Newborn Screening
Characteristics of State Programs Gao ID: GAO-03-449 March 17, 2003Each year state newborn screening programs test 4 million newborns for disorders that require early detection and treatment to prevent serious illness or death. GAO was asked to provide the Congress with information on the variations among state newborn screening programs, including information on criteria considered in selecting disorders to include in state programs, education for parents and providers about newborn screening programs, and programs' expenditures and funding sources. To collect this information, GAO surveyed newborn screening programs for genetic and metabolic disorders in all 50 states and the District of Columbia. GAO was also asked to provide information on efforts by the Department of Health and Human Services (HHS) and states to evaluate the quality of newborn screening programs, state laws and regulations that address parental consent for newborn screening, and state laws and regulations that address confidentiality issues.
While the number of genetic and metabolic disorders included in state newborn screening programs ranges from 4 to 36, most states screen for 8 or fewer disorders. In deciding which disorders to include, states generally consider similar criteria, such as whether the disorder is treatable. States also consider the cost of screening for additional disorders. HHS's Health Resources and Services Administration is funding an expert group to assist it in developing a recommended set of disorders for which all states should screen and criteria for selecting disorders. Most state newborn screening programs have similar practices for administering and funding their programs. Almost all states provide education on their newborn screening program for parents and providers, but fewer than one-fourth inform parents of their option to obtain tests for additional disorders not included in the state's program. State programs are primarily funded through fees collected from health care providers, who may receive payments from Medicaid and other third-party payers. Nationwide, fees funded 64 percent of states' 2001 fiscal year program expenditures of over $120 million. All newborn screening laboratories participate in a quality assurance program offered by HHS's Centers for Disease Control and Prevention, which assists programs in evaluating the quality of their laboratories. All states require newborn screening, and state statutes that govern screening usually do not require parental consent. However, 33 states' newborn screening statutes or regulations allow exemptions from screening for religious reasons, and 13 additional states' newborn screening statutes or regulations allow exemptions for any reason. Newborn screening statutes and regulations in over half the states contain confidentiality provisions, but these provisions are often subject to exceptions. HHS said that the report presents a thorough summary of state newborn screening programs' current practices.
GAO-03-449, Newborn Screening: Characteristics of State Programs
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Report to Congressional Requesters:
United States General Accounting Office:
GAO:
March 2003:
Newborn Screening:
Characteristics of State Programs:
State Newborn Screening Programs:
GAO-03-449:
GAO Highlights:
Highlights of GAO-03-449, a report to Congressional Requesters
Why GAO Did This Study:
Each year state newborn screening programs test 4 million newborns for
disorders that require early detection and treatment to prevent serious
illness or death. GAO was asked to provide the Congress with
information on the variations among state newborn screening programs,
including information on criteria considered in selecting disorders to
include in state programs, education for parents and providers about
newborn screening programs, and programs‘ expenditures and funding
sources. To collect this information, GAO surveyed newborn screening
programs for genetic and metabolic disorders in all 50 states and the
District of Columbia. GAO was also asked to provide information on
efforts by the Department of Health and Human Services (HHS) and states
to evaluate the quality of newborn screening programs, state laws and
regulations that address parental consent for newborn screening, and
state laws and regulations that address confidentiality issues.
What GAO Found:
While the number of genetic and metabolic disorders included in state
newborn screening programs ranges from 4 to 36, most states screen for
8 or fewer disorders. In deciding which disorders to include, states
generally consider similar criteria, such as whether the disorder is
treatable. States also consider the cost of screening for additional
disorders. HHS‘s Health Resources and Services Administration is
funding an expert group to assist it in developing a recommended set of
disorders for which all states should screen and criteria for selecting
disorders.
Most state newborn screening programs have similar practices for
administering and funding their programs. Almost all states provide
education on their newborn screening program for parents and providers,
but fewer than one-fourth inform parents of their option to obtain
tests
for additional disorders not included in the state‘s program. State
programs are primarily funded through fees collected from health care
providers, who may receive payments from Medicaid and other third-party
payers. Nationwide, fees funded 64 percent of states‘ 2001 fiscal year
program expenditures of over $120 million.
All newborn screening laboratories participate in a quality assurance
program offered by HHS‘s Centers for Disease Control and Prevention,
which assists programs in evaluating the quality of their laboratories.
All states require newborn screening, and state statutes that govern
screening usually do not require parental consent. However, 33 states‘
newborn screening statutes or regulations allow exemptions from
screening for religious reasons, and 13 additional states‘ newborn
screening statutes or regulations allow exemptions for any reason.
Newborn screening statutes and regulations in over half the states
contain confidentiality provisions, but these provisions are often
subject to exceptions.
HHS said that the report presents a thorough summary of state newborn
screening programs‘ current practices.
www.gao.gov/cgi-bin/getrpt?GAO-03-449.
To view the full report, including the scope
and methodology, click on the link above.
For more information, contact Marjorie Kanof at (202) 512-7119.
[End of section]
Contents:
Letter:
Results in Brief:
Background:
Disorders Included in State Newborn Screening Programs Vary, but
Administration of Program Components Is Similar:
State Spending on Newborn Screening Varies, and Majority of State
Programs Receive Most Funding from Fees:
Newborn Screening Quality Assurance Efforts Focus on Laboratory Testing
and Performance Monitoring:
States Generally Do Not Require Consent for Newborn Screening and Most
Limit Disclosure of Screening Information:
Agency Comments:
Appendix I: Scope and Methodology:
Appendix II: Number of Disorders Included in State Newborn Screening
Programs, December 2002:
Appendix III: Information on Disorders Most Commonly
Included in State Newborn Screening Programs:
Appendix IV: Selected Disorders States Screen for Using
MS/MS and Number of States That Screen for
Each, December 2002:
Appendix V: State Newborn Screening Program Fees and Expenditures Per
Infant Screened:
Appendix VI: Comments from the Department of Health and
Human Services:
Appendix VII: GAO Contact and Staff Acknowledgments:
GAO Contact:
Acknowledgments:
Tables:
Table 1: Disorders Most Commonly Included in State Newborn Screening
Programs, December 2002:
Table 2: Categories of Individuals Represented on States‘ Newborn
Screening Advisory Committees:
Table 3: Number of States Notifying Specific Parties of Newborn
Screening Results:
Table 4: Funding Sources for State Newborn Screening Programs, as
Percentage of Nationwide Program Expenditures, State Fiscal Year 2001:
Table 5: Basis on Which Newborn Screening Exemption Is Granted, by
State:
Table 6: Exceptions to Confidentiality Requirements in States‘ Genetic
Privacy Laws:
Abbreviations:
AAP: American Academy of Pediatrics
APHL: Association of Public Health Laboratories
CDCC: enters for Disease Control and Prevention
CLIA: Clinical Laboratory Improvement Amendments of 1988
CMSC: enters for Medicare & Medicaid Services
CORN: Council of Regional Networks for Genetic Services
HHS: Department of Health and Human Services
HRSA: Health Resources and Services Administration
MCAD: medium-chain acyl-CoA dehydrogenase deficiency
MS/MS: tandem mass spectrometry
NCSL: National Conference of State Legislatures
NIH: National Institutes of Health
NSQAP: Newborn Screening Quality Assurance Program
PKU: phenylketonuria:
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United States General Accounting Office:
Washington, DC 20548:
March 17, 2003:
The Honorable Christopher J. Dodd
The Honorable Mike DeWine
United States Senate:
Each year newborn screening programs in all the states test 4 million
newborns to identify those who may have specific genetic and metabolic
disorders that could threaten their life or long-term health.[Footnote
1] Early detection, diagnosis, and treatment of these disorders may
prevent a child‘s death, serious illness, or disability. For example,
children with the metabolic disorder phenylketonuria (commonly referred
to as PKU) cannot properly metabolize common foods, including milk and
meat, and need to be placed on a special diet to avoid mental
retardation. Children with sickle cell diseases, which are genetic
blood disorders, can receive antibiotic treatment to reduce the risk of
bacterial infections.
Newborn screening is a state public health activity, with each state
responsible for designing and implementing its own program. For
example, each state decides which disorders to include in its screening
program. To assist the Congress as it considers actions related to
newborn screening, you asked us to provide information on the
variations among state newborn screening programs. In response to your
request, this report provides information on (1) the disorders tested
for in each state; how disorders are selected, including the use of
advisory committees; and how states educate parents and health care
providers about newborn screening, notify them of screening results,
and follow up on abnormal results, (2) state newborn screening
programs‘ expenditures and funding sources, (3) efforts by the
Department of Health and Human Services (HHS) and states to monitor and
evaluate the quality of state newborn screening programs, and (4) how
state laws address consent and privacy issues related to newborn
screening. As you requested, this report focuses only on newborn
screening for genetic and metabolic disorders and does not include
information on screening programs for hearing and infectious diseases.
To provide information on state newborn screening programs, we surveyed
state health officers in all the states during October and November
2002. The survey collected information on the laboratory and program
administration/follow-up components of states‘ newborn screening
programs, including their expenditures and funding sources. For the
purposes of the survey and this report, follow-up activities include
activities that are provided in response to abnormal screening results,
such as confirmation of diagnosis and referral for treatment. We did
not ask for information on disease management and treatment services.
We spoke with staff of several states‘ newborn screening programs to
clarify survey responses and to obtain additional, more detailed
information. We also reviewed information compiled by the National
Newborn Screening and Genetics Resource Center, a project funded by
HHS‘s Health Resources and Services Administration (HRSA), which
collects information on state newborn screening programs. In addition,
we reviewed documents and interviewed Centers for Disease Control and
Prevention (CDC) and HRSA staff on their efforts to monitor and
evaluate the quality of state newborn screening programs. To determine
how state laws address consent and privacy issues related to newborn
screening, we analyzed state statutes and selected regulations that
provide for newborn screening for genetic and metabolic disorders, and
state statutes that relate to privacy of genetic information generally.
To identify state newborn screening statutes and regulations and state
genetic privacy statutes, we relied on research material provided by
the National Conference of State Legislatures. (For additional
information on our scope and methodology, see app. I.):
We conducted our work from June 2002 through March 2003 in accordance
with generally accepted government auditing standards.
Results in Brief:
While the number of genetic and metabolic disorders included in state
newborn screening programs ranges from 4 to 36, most states screen for
8 or fewer disorders. Authority for deciding which disorders to include
in programs often rests with state health departments or boards of
health, which generally receive input from advisory committees.
Screening for certain disorders may also be mandated by state law. In
deciding which disorders to include in their programs, states generally
consider similar criteria, such as how often the disorder occurs in the
population, whether an effective screening test exists, and whether the
disorder is treatable. States also reported that they consider the cost
of screening for additional disorders, which may include costs
associated with performing more tests, acquiring and implementing new
technology, and following up on abnormal results. With the exception of
federal recommendations that newborns be screened for PKU, congenital
hypothyroidism, and sickle cell diseases, there are no federal
guidelines on the set of disorders that should be included in state
screening programs. HRSA is funding an expert group to assist it in
developing a recommended set of disorders for which all states should
screen and criteria for selecting disorders. Almost all states provide
education on their screening program for parents and providers.
However, fewer than one-fourth of the states inform parents of their
option to obtain testing for additional genetic and metabolic disorders
not included in the state‘s program. All state programs notify a health
care provider, such as a physician or hospital, of abnormal newborn
screening results; fewer than half routinely notify parents directly of
abnormal results. All states also follow up on abnormal results; their
follow-up activities may include obtaining additional laboratory
information, referring the infant for treatment, or confirming that
treatment has begun.
States spent over $120 million on newborn screening in their 2001
fiscal year, with most states spending from $20 to $40 for each infant
screened. Most of these expenditures supported the laboratory component
of screening programs, including the processing and analysis of
specimens. Nationwide, newborn screening fees funded 64 percent of
programs‘ expenditures. The fees are generally paid by the health care
providers submitting specimens, who in turn may receive payments from
Medicaid and other third-party payers, including private insurers.
Other funding sources included HRSA‘s Maternal and Child Health
Services Block Grant, direct payments from Medicaid, and other state
and federal funds.
CDC and HRSA offer services to help states monitor and evaluate the
quality of their newborn screening programs. All laboratories that
perform testing for state newborn screening programs voluntarily
participate in CDC‘s Newborn Screening Quality Assurance Program
(NSQAP). This enables them to meet the federal regulatory requirement
under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) to
have a process for verifying the accuracy of tests they perform. HRSA‘s
National Newborn Screening and Genetics Resource Center conducts
technical reviews of individual state newborn screening programs that
request them; the Resource Center has conducted nine reviews since
January 2000. These reviews respond to specific questions raised by
state officials, such as how to implement an expansion of the state‘s
program. The reviewing team also analyzes the overall state newborn
screening program and provides the state with findings and
recommendations that could improve the program. States are not
obligated to implement these recommendations. In addition to
participating in federal quality assurance programs, most state newborn
screening programs reported that they evaluate the quality of the
laboratory testing or program administration/follow-up components of
their programs.
State newborn screening statutes usually do not require that parental
consent be obtained before screening occurs. While all states require
newborn screening, 33 states‘ newborn screening statutes or regulations
allow exemptions from screening for religious reasons, and 13
additional states‘ newborn screening statutes or regulations allow
exemptions for any reason. Newborn screening statutes and regulations
in over half the states specify that newborn screening information is
confidential, but these confidentiality provisions are often subject to
exceptions, which vary across states. The most common exception allows
disclosure of information for research purposes, provided that the
child‘s identity is not revealed and researchers comply with applicable
laws for the protection of humans in research activities. Other
exceptions include use of information for law enforcement and for
establishing paternity. Over half the states have statutes that govern
the collection, use, or disclosure of genetic information, which may
also apply to genetic information obtained from newborn screening.
While few newborn screening statutes provide penalties for violation of
confidentiality provisions, 17 states‘ genetic privacy statutes provide
specific penalties for violating genetic privacy laws.
In commenting on a draft of this report, HHS said that the report
presents a thorough summary of state newborn screening programs‘
current practices.
Background:
Newborn screening programs in the United States began in the early
1960s with the development of a screening test for PKU and a system for
collecting and transporting blood specimens on filter paper. All
newborn screening begins with a health care provider collecting a blood
specimen during a newborn‘s first few days of life.[Footnote 2] The
baby‘s heel is pricked to obtain a few drops of blood, which are placed
on a specimen collection card and sent to a laboratory for analysis.
State departments of health may use their own laboratory to test
samples from the dried blood spots or may have a contract with a
private laboratory, a laboratory at a university medical school, or
another state‘s public laboratory.
Laboratories may choose among a variety of testing methods to maximize
the efficiency and effectiveness of their testing. A major technical
advance in newborn screening is use of the tandem mass spectrometer, an
analytical instrument that can precisely measure small amounts of
material and enable detection of multiple disorders from a single
analysis of a blood sample. Tandem mass spectrometry (MS/MS) has
greatly increased the number of disorders that can be detected, but it
cannot completely replace other analysis methods because it cannot
screen for all disorders included in state newborn screening programs.
After initial testing, state newborn screening program staff notify
health care providers of abnormal results because it may be necessary
to verify the accuracy of the initial screening result by testing a
sample from a second specimen or to ensure that the infant receives
more extensive diagnostic testing to confirm the presence of a
disorder. The infant may also need immediate treatment. Laboratories
and state maternal and child health programs generally carry out the
notification process.
Primary care and specialty physicians are involved in various stages of
the newborn screening process. They generally are responsible for
notifying the family of abnormal screening results and may confirm
initial results through additional testing. If necessary, they identify
appropriate management and treatment options for the child. State
maternal and child health program staff may follow up to ensure that
these activities occur.
Federal Role in Newborn Screening:
Several HHS agencies carry out activities related to newborn screening,
including collecting and sharing information about state newborn
screening programs, promoting quality assurance, and funding screening
services. HRSA‘s Maternal and Child Health Bureau has primary
responsibility for promoting and improving the health of infants and
mothers. HRSA offers grants to states, including the Maternal and Child
Health Services Block Grant, that state newborn screening programs may
use to support their newborn screening services. HRSA also funded the
development of the Council of Regional Networks for Genetic Services
(CORN) in 1985 to provide a forum for information exchange among groups
concerned with public health aspects of genetic services. The newborn
screening committee of CORN identified several areas of importance to
programs, including the process of selecting disorders for screening,
communication, quality assurance, and funding. It developed guidelines
in these areas to increase consistency among state newborn screening
programs[Footnote 3] and also began collecting data on state programs.
In 1999, CORN was disbanded, and HRSA established the National Newborn
Screening and Genetics Resource Center--the Resource Center. The
Resource Center is supported by a cooperative agreement between the
Genetic Services Branch of HRSA‘s Maternal and Child Health Bureau and
the University of Texas Health Science Center at San Antonio Department
of Pediatrics. The Resource Center develops annual reports on state
newborn screening activities and provides technical assistance to state
newborn screening programs. It also provides information and
educational resources to health professionals, consumers, and the
public health community.
CDC‘s Newborn Screening Branch,[Footnote 4] in partnership with the
Association of Public Health Laboratories (APHL), operates
NSQAP.[Footnote 5] NSQAP is a voluntary, nonregulatory program that is
designed to help state health departments and their laboratories
maintain and enhance the quality of their newborn screening test
results. In addition, CDC‘s National Center on Birth Defects and
Developmental Disabilities funds research related to newborn screening.
The Centers for Medicare & Medicaid Services‘ (CMS) involvement in
newborn screening relates to its Medicaid and CLIA programs. CMS
administers Medicaid, a jointly funded, federal-state health insurance
program for certain low-income individuals, which covers newborn
screening for eligible infants. Nationwide, Medicaid finances services
for one in three births each year. Through the CLIA program,[Footnote
6] CMS also regulates laboratory testing performed on specimens
obtained from humans, including the dried blood spots used for newborn
screening. CLIA‘s purpose is to ensure the accuracy, reliability, and
timeliness of laboratory test results. CLIA requires that laboratories
comply with quality requirements in five major areas: personnel
qualifications and responsibilities, quality control, patient test
management, quality assurance, and proficiency testing.[Footnote 7]
Laboratories that fail to meet CLIA‘s quality requirements are subject
to sanctions, including denial of Medicaid payments.[Footnote 8]
Through the CLIA program, laboratories that test dried blood spots in
connection with newborn screening must have a process for verifying the
accuracy of their tests at least two times each year. State newborn
screening laboratories can meet this requirement through participation
in the proficiency testing program offered by NSQAP.
The National Institutes of Health‘s (NIH) National Institute of Child
Health and Human Development has sponsored research on disorders
identified through newborn screening, including PKU, congenital
hypothyroidism, and galactosemia. Research has addressed issues such as
the effectiveness of screening and treatments and the application of
new technologies for identifying additional disorders.
The Children‘s Health Act of 2000 authorized HHS to award grants to
improve or expand the ability of states and localities to provide
screening, counseling, or health care services for newborns and
children who have, or are at risk for, heritable disorders and to
evaluate the effectiveness of these services.[Footnote 9] As of
February 2003, funds had not been appropriated to fund these grants.
The act also authorized the establishment of a committee to advise the
Secretary of HHS on reducing the mortality and morbidity of newborns
born with disorders. The Secretary of HHS signed the charter for this
committee in February 2003.
Federal Privacy Standards:
Under the Health Insurance Portability and Accountability Act of
1996,[Footnote 10] HHS developed regulations to protect the privacy of
health information, which as defined in the regulations, would include
the results of testing of newborns. The regulations give individuals
the right, in most cases, to inspect and obtain copies of health
information about themselves. In addition, the regulations generally
restrict health plans and certain health care providers from disclosing
such information to others without the patient‘s consent, except for
purposes of treatment, payment, or healthcare operations.[Footnote 11]
While the federal regulations preempt state requirements that conflict
with them, states are free to enact and enforce more stringent privacy
protections. Most entities and individuals that are covered by the
regulations must be in compliance by April 14, 2003.
Disorders Included in State Newborn Screening Programs Vary, but
Administration of Program Components Is Similar:
Although state newborn screening programs vary in the number of
disorders for which they screen, states generally follow similar
practices and criteria in selecting disorders for their programs.
States also conduct most other aspects of their programs in similar
ways. Almost all state programs provide information for parents and
conduct provider education, but fewer than one-fourth of the states
provide information for parents on their option to test for additional
disorders not included in the state‘s program. All state programs
notify health care providers--and some also notify parents--about
abnormal screening results, and all states reported following up on
abnormal results.
Most States Screen for Eight Disorders or Fewer:
Most state newborn screening programs screen for 8 disorders or fewer.
The number of disorders included in state programs ranges from 4 to 36.
(See app. II for the number of disorders screened for by each state.)
Programs are implemented through state statutes and/or regulations,
which often require screening for certain disorders. According to the
Resource Center, all states require screening for PKU and congenital
hypothyroidism, and 50 states require screening for galactosemia. Table
1 lists the disorders most commonly included in state newborn screening
programs. (See app. III for information on these disorders.) Some
states provide screening for certain disorders to selected populations,
through pilot programs, or by request. For example, in addition to the
44 states that require screening for sickle cell diseases for all
newborns, 6 states provide screening for sickle cell diseases to
selected populations or through pilot programs. Some states are taking
steps that could expand the number of disorders included in their
programs.[Footnote 12]
Table 1: Disorders Most Commonly Included in State Newborn Screening
Programs, December 2002:
Disorder: PKU; Number of states[A]: 51.
Disorder: Congenital hypothyroidism; Number of states[A]: 51.
Disorder: Galactosemia; Number of states[A]: 50.
Disorder: Sickle cell diseases; Number of states[A]: 44.
Disorder: Congenital adrenal hyperplasia; Number of states[A]: 32.
Disorder: Biotinidase deficiency; Number of states[A]: 24.
Disorder: Maple syrup urine disease; Number of states[A]: 24.
Disorder: Homocystinuria; Number of states[A]: 17.
Source: National Newborn Screening and Genetics Resource Center.
Note: This table does not include states that provide screening for the
disorders to selected populations, as part of pilot programs, or by
request.
[A] ’States“ refers to the 50 states and the District of Columbia.
[End of table]
The criteria that state newborn screening programs reported they
consider in selecting disorders to include in their programs are
generally consistent across states. For example, they generally include
how often the disorder occurs in the population, whether an effective
screening test exists to identify the disorder, and whether the
disorder is treatable. These criteria are also consistent with
recommendations of the American Academy of Pediatrics (AAP) newborn
screening task force.[Footnote 13] Neither the criteria states use nor
AAP‘s recommendations include benchmarks, such as the lowest incidence
or prevalence rate that would be acceptable for population-based
newborn screening or measurements of treatment effectiveness or
screening reliability.
Some states reported that they are considering revising their criteria
because MS/MS can identify disorders for which treatment is not
currently available. Because MS/MS technology can be used for screening
multiple disorders in a single analysis, states may choose to include
such disorders in their testing along with disorders that can be
treated.[Footnote 14] Twenty-one states use MS/MS in their screening
programs (see app. II);[Footnote 15] the number of disorders for which
screening is conducted using MS/MS ranges from 1 to 28. (See app. IV
for a list of selected disorders for which screening is conducted using
MS/MS.):
Many states consider cost when selecting disorders to include in their
newborn screening program. In addition, several states told us that
they would need additional funding to expand the number of disorders in
their program. The costs associated with adding disorders include costs
of additional testing, educating parents and providers, and following
up on abnormal results. Additional costs may also be associated with
acquiring and implementing new technology, such as purchasing MS/MS
technology and training staff in its use.
With the exception of federal recommendations that newborns be screened
for three specific disorders, there are no federal guidelines on the
set of disorders that should be included in state screening programs.
The U.S. Preventive Services Task Force, which is supported by HHS‘s
Agency for Healthcare Research and Quality, has recommended screening
for sickle cell diseases, PKU, and congenital hypothyroidism. In
addition, NIH issued a consensus statement recommending that all
newborns be screened for sickle cell diseases, as well as a consensus
statement concluding that genetic testing for PKU has been very
successful in the prevention of severe mental retardation.[Footnote 16]
AAP‘s newborn screening task force reported that infants born anywhere
in the U.S. should have access to screening tests and procedures that
meet accepted national standards and guidelines. The task force
recommended that federal and state public health agencies, in
partnership with health professionals and consumers, develop and
disseminate model state regulations to guide implementation of state
newborn screening systems, including the development of criteria for
selecting disorders. In 2001, HRSA awarded a contract to the American
College of Medical Genetics to convene an expert group to assist it in
developing a recommended set of disorders for which all states should
screen and criteria that states should consider when adding to or
revising the disorders in their newborn screening programs.[Footnote
17] The expert group is expected to make recommendations to HRSA in
spring 2004. Some state officials told us they have concerns about the
development of a uniform set of disorders because states differ in
incidence rates for disorders and capacity for providing follow-up and
treatment.
Most states reported that the state health department or board of
health has authority to select the disorders included in newborn
screening programs. Six states reported that they could not modify the
disorders included in their newborn screening programs without
legislation. Forty-five states reported that they have an advisory
committee that is involved in selecting disorders; such a committee
generally makes recommendations to the state health department or board
of health. Most states reported that their advisory committee is not
required by state statute or regulation. We found that most newborn
screening advisory committees are multidisciplinary and include
physicians, other health workers, and individuals with disorders or
parents of children with disorders. (See table 2.):
Table 2: Categories of Individuals Represented on States‘ Newborn
Screening Advisory Committees:
Category: Specialty medical care physicians[B]; Number of states[A]:
44.
Category: Laboratory specialists; Number of states[A]: 41.
Category: Pediatricians and/or other primary health care providers;
Number of states[A]: 40.
Category: Health department staff who conduct follow-up activities;
Number of states[A]: 38.
Category: Individuals with disorders or parents of children with
disorders; Number of states[A]: 35.
Category: Ethicists; Number of states[A]: 16.
Category: Other[C]; Number of states[A]: 28.
Source: GAO Survey of State Newborn Screening Programs for Genetic and
Metabolic Disorders, October 21, 2002.
[A] Forty-four states and the District of Columbia reported that they
have an advisory committee.
[B] Includes metabolic specialists, endocrinologists, geneticists, and
hematologists.
[C] Includes representatives from state hospital associations, state
March of Dimes chapters, social workers, lawyers, other state and local
health department staff, dieticians, and state legislators.
[End of table]
Most States Provide Information for Parents and Conduct Provider
Education, but Few Provide Information to Parents on Screening Not
Included in State Program:
Almost all states reported they offer information for parents and
education for providers on their newborn screening program. Eleven
states have newborn screening statutes requiring that parents of
newborns be informed of the program at the time of screening.[Footnote
18] In most states, information for parents includes how the blood
specimen is obtained, the disorders included in the state program, and
how parents will be notified of testing results. Seven states reported
they include information for parents on their option to obtain testing
for additional disorders that are not included in the state‘s program,
but that may be available to them through other laboratories.[Footnote
19] Provider education offered by states includes information on the
collection and submission of specimens, the management of the
disorders, and medical specialists available to treat the disorders.
While state newborn screening programs produce or compile materials for
parents, they generally do not provide them directly to parents and are
unable to say when, or if, parents actually receive them. Rather, the
state provides materials to other individuals, including hospital
staff, midwives, pediatricians, primary care providers, and local
health department staff, who are expected to share them with parents.
Over half the states reported that their materials for parents are
available in English and one or more other languages.
States Generally Notify Multiple Parties of Abnormal and Normal
Screening Results and Follow Up on Abnormal Results:
The parties states notify about newborn screening results vary,
depending on whether the result is abnormal[Footnote 20] or normal.
(See table 3.) All states reported that for abnormal results, they
notify the physician of record or the birth or submitting hospital. The
physician or hospital, in turn, is generally responsible for notifying
parents. Most states reported they notify physicians and hospitals by
telephone; many states reported also notifying them by letter, fax, or
E-mail. While the AAP newborn screening task force recommended that
programs notify parents or guardians, fewer than half the states
routinely notify parents directly of abnormal results, and no state
routinely notifies parents directly of normal results. States that
notify parents generally said that notification of parents was by
letter.
Table 3: Number of States Notifying Specific Parties of Newborn
Screening Results:
Party notified: Birth or submitting hospital; Number of states:
Abnormal results: 50; Number of states: Normal results: 49.
Party notified: Physician of record; Number of states: Abnormal
results: 51; Number of states: Normal results: 34.
Party notified: Specialty provider; Number of states: Abnormal results:
34; Number of states: Normal results: [A].
Party notified: Parent; Number of states: Abnormal results: 22; Number
of states: Normal results: 0.
Party notified: Other[B]; Number of states: Abnormal results: 16;
Number of states: Normal results: 7.
Source: GAO Survey of State Newborn Screening Programs for Genetic and
Metabolic Disorders, October 21, 2002.
[A] ’States“ refers to the 50 states and the District of Columbia.
[B] Because specialty care is not necessary for children with normal
results, we did not ask states if a specialty provider was notified.
[C] Includes midwives, county and local health departments, and the
infant‘s primary care physician.
[End of table]
States also reported that they take other actions in response to
abnormal screening results. About three-fourths of states reported
testing samples from second specimens when the initial specimen is
abnormal or unsatisfactory.[Footnote 21] All states reported conducting
follow-up activities. Over 90 percent of states said that their follow-
up activities include obtaining additional laboratory information to
confirm the presence of a disorder, which could include obtaining the
results of diagnostic tests performed by other laboratories. Almost all
states reported that they refer infants with disorders for treatment
and most follow up to confirm that treatment has begun. About two-
thirds of the states reported that they conduct or fund periodic
follow-up of newborns diagnosed with a disorder, which could include
ensuring that they continue to receive treatment and monitoring their
health status. According to Resource Center data on state newborn
screening programs, the length of the follow-up period varies among
disorders and across states.[Footnote 22]
State Spending on Newborn Screening Varies, and Majority of State
Programs Receive Most Funding from Fees:
States reported that they spent over $120 million on newborn screening
in state fiscal year 2001, with individual states‘ expenditures ranging
from $87,000 to about $27 million. Seventy-four percent of these
expenditures supported laboratory activities. The primary funding
source for most states‘ newborn screening expenditures was newborn
screening fees. The fees are generally paid by health care providers
submitting specimens; they in turn may receive payments from Medicaid
and other third-party payers, including private insurers. Other funding
sources that states identified included the Maternal and Child Health
Services Block Grant, direct payments from Medicaid, and other state
and federal funds.
Newborn Screening Expenditures Vary by State:
States reported they spent over $120 million on laboratory and program
administration/follow-up activities in state fiscal year
2001.[Footnote 23],[Footnote 24] Individual states‘ expenditures
ranged from $87,000 to about $27 million. Based on information provided
by 46 states, we found that, on average, states spent $29.44 for each
infant screened in state fiscal year 2001.[Footnote 25] Two-thirds of
these states spent from $20 to $40 per infant. (See app. V for
expenditures per infant screened in each state.):
Laboratory expenditures accounted for 74 percent of states‘
expenditures; program administration/follow-up expenditures accounted
for 26 percent.[Footnote 26] States reported that laboratory
expenditures generally supported activities such as processing and
analyzing specimens, notifying health care providers and parents of
screening test results, and evaluating the quality of laboratory
activities. Program administration/follow-up expenditures generally
supported activities such as notifying appropriate parties of test
results, confirming that infants received additional laboratory
testing, confirming that infants diagnosed with disorders received
treatment, and providing education to parents and health care
providers. In addition, almost half the states reported that laboratory
expenditures supported education of parents and health care providers.
State Newborn Screening Programs Are Funded Primarily through Fees:
Fees are the largest funding source for most states‘ newborn screening
programs. Forty-three states reported they charge a newborn screening
fee to support all or part of program expenditures.[Footnote 27] The
fees are generally paid by health care providers submitting specimens;
they in turn may receive payments from Medicaid and other third-party
payers, including private insurers. Some states collect the fees
through the sale of specimen collection kits to hospitals and birthing
centers. Other states may bill hospitals, patients, physicians,
Medicaid, or other third-party payers for the fee. Nationwide, newborn
screening fees funded 64 percent of newborn screening program
expenditures in state fiscal year 2001.[Footnote 28],[Footnote 29] (See
table 4.) Thirteen state programs reported that fees were their sole
source of funding in fiscal year 2001, and 19 additional states
reported that fees funded at least 60 percent of their newborn
screening expenditures. As of The average fee in the states that
charged a fee was about $31, with fees ranging from $10 to $60.
Table 4: Funding Sources for State Newborn Screening Programs, as
Percentage of Nationwide Program Expenditures, State Fiscal Year 2001:
Funding source: Fees; Percentage of program expenditures: 64.
Funding source: Maternal and Child Health Services Block Grant;
Percentage of program expenditures: 5.
Funding source: Medicaid[A]; Percentage of program expenditures: 10.
Funding source: Other state funds; Percentage of program expenditures:
19.
Funding source: Other funds[B]; Percentage of program expenditures: 2.
Source: GAO Survey of State Newborn Screening Programs for Genetic and
Metabolic Disorders, October 21, 2002.
Note: This table includes information for 50 states; South Dakota
reported that information on state fiscal year 2001 funding sources was
not available. We asked states to provide us expenditure information
for laboratory and program administration/follow-up components and
instructed them to include only those follow-up activities that are
conducted through confirmation of diagnosis and referral for treatment.
We did not ask for expenditure information for disease management and
treatment services.
[A] Includes federal and state contributions.
[B] Includes, for example, the Preventive Health and Health Services
Block Grant.
[End of table]
Seven state newborn screening programs identified Medicaid as a direct
funding source in state fiscal year 2001. These screening programs bill
the state Medicaid agency directly for laboratory services or receive a
transfer of funds from the state Medicaid agency for screening services
provided to Medicaid-enrolled infants. The percentage of expenditures
the states reported as directly funded by Medicaid does not include
Medicaid payments to hospitals for services provided to
newborns.[Footnote 30]
Other funding sources that states identified for newborn screening
program expenditures include state funds and the Maternal and Child
Health Services Block Grant. About half the states reported that state
funds supported laboratory or program administration/follow-up
expenditures. In addition, about half the states reported that they
rely on the Maternal and Child Health Services Block Grant as a funding
source for laboratory or program administration/follow-up
expenditures. Seven states identified other funding sources, such as
the Preventive Health and Health Services Block Grant.
Newborn Screening Quality Assurance Efforts Focus on Laboratory Testing
and Performance Monitoring:
CDC and HRSA offer services to assist states in evaluating the quality
of their newborn screening programs. For example, CDC‘s NSQAP provides
proficiency testing for almost all disorders included in state newborn
screening programs, enabling states to meet the CLIA regulatory
requirement that laboratories have a process for verifying the accuracy
of tests they perform. Through the Resource Center, HRSA supports
technical reviews of state newborn screening programs. These voluntary
programwide reviews are conducted at the request of state health
officials and focus primarily on areas of concern identified by state
officials. In addition to these federally supported efforts, most state
newborn screening programs reported that they evaluate the quality of
the laboratory testing and/or program administration/follow-up
components of their newborn screening programs.
CDC Provides Proficiency Testing and Other Quality Assurance Services
to Newborn Screening Laboratories:
CDC‘s NSQAP is the only program in the country that conducts
proficiency testing on the dried blood spots used in newborn
screening.[Footnote 31] While NSQAP is voluntary, as of January 2003,
all laboratories that perform testing for state newborn screening
programs participated in the proficiency testing program. Participation
in NSQAP allows laboratories to meet the CLIA regulatory requirement
that they have a process for verifying the accuracy of tests they
perform. NSQAP offers proficiency testing for over 30 disorders,
including the disorders most commonly included in state newborn
screening programs.
When a laboratory misclassifies a specimen during proficiency testing,
NSQAP notifies the laboratory of the problem. When an abnormal specimen
is classified as normal, NSQAP officials work with the laboratory to
identify and solve the problem that led to the misclassification. NSQAP
provides information on the specimen that was misclassified, gives
supplemental specimens to the laboratory to test, and may visit the
laboratory, if necessary, to provide additional assistance.[Footnote
32]
In addition to proficiency testing, NSQAP provides other types of
quality assurance assistance, including training, guidelines, and
consultation to laboratories that participate in the program. For
example, in September 2001, NSQAP cosponsored a meeting of laboratory
and medical scientists to discuss issues related to the use of MS/MS in
newborn screening.[Footnote 33] In addition, NSQAP provides state
newborn screening programs with quality control specimens--test
specimens designed to be run over a period of time to ensure the
stability of the testing methods--and works with the manufacturers of
the filter papers used in the collection of dried blood spots to ensure
their quality.[Footnote 34] NSQAP also publishes quarterly and annual
reports on the aggregate performance of participating laboratories.
These reports include information on the results of the proficiency
testing program. The annual reports also include information on NSQAP‘s
quality control effort and describe other activities undertaken during
the year.
HRSA Funds Voluntary Technical Reviews of State Newborn Screening
Programs:
HRSA‘s Resource Center offers technical reviews to states at their
request to help them refine and improve their newborn screening
activities.[Footnote 35] The team that visits the state program
typically includes a representative of the Resource Center, a
representative from CDC‘s NSQAP to focus on laboratory quality
assurance, a health care provider to focus on medical and genetic
issues, a follow-up coordinator from another state program to focus on
the follow-up component of the program, and a representative from HRSA
to focus on financial and administrative issues. The Resource Center‘s
reviews concentrate primarily on areas state officials ask the team to
review. For example, states have asked the review team to look at
whether or how the set of disorders included in their programs should
be expanded, how to incorporate MS/MS into a program, and whether
current program staffing levels are appropriate. The review team also
assesses the degree to which the state program follows the 1992 CORN
guidelines in areas such as public, professional, and patient
education, laboratory proficiency testing, and consumer representation
on advisory committees.
After reviewing a state newborn screening program, the team provides
the state with a final report that includes its findings and
recommendations to improve the program. Recent findings have included
newborn screening advisory committees that were not sufficiently
multidisciplinary and programs that did not have a systemwide quality
assurance program. Review teams have also identified the need for
additional program administration/follow-up staff and for provider
education programs to include information on collecting and submitting
specimens and reporting screening results. The state newborn screening
program is not obligated to accept or implement the team‘s
recommendations, and HRSA and the Resource Center have no authority to
require states to make changes to their program. However, according to
the Resource Center, most participating states have made some
modifications to their program in response to recommendations. State
officials told us, for example, that they have expanded or diversified
the membership of their advisory committees, revised practitioner
manuals, developed a programwide quality assurance system, and hired
additional program administration/follow-up staff. In addition, state
newborn screening program staff told us that the recommendations of the
review teams helped inform program staff, state legislators, and health
department staff as they assessed program needs.
HRSA has funded 26 technical reviews in 22 states since the program
began in 1987;[Footnote 36] 9 of these reviews have occurred since
January 2000. Every state that has requested a review has been able to
receive one.
Most State Newborn Screening Programs Reported Evaluating Laboratory or
Program Administration/Follow-up Activities:
Most states reported evaluating the quality of the laboratory testing
and/or program administration/follow-up components of their newborn
screening programs. For example, laboratories monitor performance by
defining criteria for achieving quality results and designing a
monitoring program to evaluate whether they are meeting these criteria.
One state told us that it has criteria related to calibration of
equipment, personnel training and education, and recordkeeping and
documentation. Other measures that programs may monitor include
percentage of births screened, number of unusable specimens,
demographic information missing from specimen collection cards, and
number of children lost to follow-up. Several state officials told us
that they use some of these measures to monitor quality of specimens
received from hospitals and to identify hospitals that may need
education regarding the newborn screening process. In addition, states
voluntarily report many of these measures to the Resource Center for
inclusion in its annual National Newborn Screening Report, enabling
states to compare their program over time with other states‘ programs.
Moreover, all states report annually to HRSA on the percentage of
newborns in the state who are screened for selected disorders,
including PKU and congenital hypothyroidism, as part of the Maternal
and Child Health Services Block Grant reporting requirements.[Footnote
37]
About half the states reported to us that they have a mechanism for
learning of abnormal cases that were misclassified as normal,
information that can alert a state to problems with its program.
According to experts in the field of newborn screening, these cases
occur infrequently but can have serious results when children develop a
life-threatening condition that might have been prevented if treated
early. Most of these states learn about these cases through their
communications with the specialists in their state who manage and treat
the disorders identified by newborn screening. If a child is referred
to one of these specialists from a source other than the newborn
screening program, the specialist will usually contact program
officials, who then determine whether the screening program
misclassified the child‘s screening result as normal. Four states
reported that they can learn of abnormal cases misclassified as normal
through reports made to state birth defects or disease registries. For
example, one state reported that staff at the state birth defects
registry notify the newborn screening program of children reported to
them, and the newborn screening program then checks whether or not
these children were identified through the screening process.
States Generally Do Not Require Consent for Newborn Screening and Most
Limit Disclosure of Screening Information:
State newborn screening statutes usually do not require that parental
consent be obtained before screening occurs. However, most state
newborn screening statutes or regulations allow exemptions from
screening for religious reasons, and several states allow exemptions
for any reason. Provisions regarding the confidentiality of screening
results are included in state newborn screening statutes and
regulations and state genetic privacy laws, but are often subject to
exceptions, which vary across states. The most common exceptions allow
disclosure of information for research purposes, for use in law
enforcement, and for establishing paternity. While few newborn
screening statutes provide penalties for violation of confidentiality
provisions, many states‘ genetic privacy statutes provide criminal
sanctions and penalties for violating their provisions, including those
related to confidentiality.
Consent Is Generally Not Required for Newborn Screening, but Many
States Allow Religious Exemptions:
All states require newborn screening, and state newborn screening
statutes usually do not require consent for screening. Only Wyoming‘s
newborn screening statute expressly requires that persons responsible
for collecting the blood specimen obtain consent prior to screening. In
addition, of the three states with only regulations requiring newborn
screening,[Footnote 38] Maryland‘s regulations on newborn screening
require consent for screening.[Footnote 39]
While all states require newborn screening, most newborn screening
statutes or regulations provide exemptions in certain situations. In 33
states, newborn screening statutes or regulations provide an exemption
from screening if it is contrary to parents‘ religious beliefs or
practices. Thirteen additional states provide an exemption for any
reason. (See table 5.):
Table 5: Basis on Which Newborn Screening Exemption Is Granted, by
State:
Alabama; Basis for exemption: Religious objection: ; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Alaska; Basis for exemption: Religious objection: [Empty]; Basis for
exemption: Any objection: Yes; No exemption: [Empty].
Arizona; Basis for exemption: Religious objection: [Empty]; Basis for
exemption: Any objection: [Empty]; No exemption: Yes.
Arkansas; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
California; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Colorado; Basis for exemption: Religious objection: [Empty]; Basis for
exemption: Any objection: Yes; No exemption: [Empty].
Connecticut; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Delaware; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
District of Columbia; Basis for exemption: Religious objection:
[Empty]; Basis for exemption: Any objection: Yes; No exemption:
[Empty].
Florida; Basis for exemption: Religious objection: [Empty]; Basis for
exemption: Any objection: Yes; No exemption: [Empty].
Georgia; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Hawaii; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Idaho; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Illinois; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Indiana; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Iowa; Basis for exemption: Religious objection: [Empty]; Basis for
exemption: Any objection: Yes; No exemption: [Empty].
Kansas; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Kentucky; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Louisiana; Basis for exemption: Religious objection: [Empty]; Basis for
exemption: Any objection: Yes; No exemption: [Empty].
Maine; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Maryland; Basis for exemption: Religious objection: [Empty]; Basis for
exemption: Any objection: Yes; No exemption: [Empty].
Massachusetts; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Michigan; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Minnesota; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Mississippi; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Missouri; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Montana; Basis for exemption: Religious objection: [Empty]; Basis for
exemption: Any objection: [Empty]; No exemption: Yes.
Nebraska; Basis for exemption: Religious objection: [Empty]; Basis for
exemption: Any objection: [Empty]; No exemption: Yes.
Nevada; Basis for exemption: Religious objection: [Empty]; Basis for
exemption: Any objection: Yes; No exemption: [Empty].
New Hampshire; Basis for exemption: Religious objection: [Empty]; Basis
for exemption: Any objection: Yes; No exemption: [Empty].
New Jersey; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
New Mexico; Basis for exemption: Religious objection: [Empty]; Basis
for exemption: Any objection: Yes; No exemption: [Empty].
New York; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
North Carolina; Basis for exemption: Religious objection: [Empty];
Basis for exemption: Any objection: Yes; No exemption: [Empty].
North Dakota; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Ohio; Basis for exemption: Religious objection: Yes; Basis for
exemption:
Any objection: [Empty]; No exemption: [Empty].
Oklahoma; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Oregon; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Pennsylvania; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Rhode island; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
South Carolina; Basis for exemption: Religious objection: Yes; Basis
for
exemption: Any objection: [Empty]; No exemption: [Empty].
South Dakota; Basis for exemption: Religious objection: [Empty]; Basis
for exemption: Any objection: [Empty]; No exemption: Yes.
Tennessee; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Texas; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Utah; Basis for exemption: Religious objection: Yes; Basis for
exemption:
Any objection: [Empty]; No exemption: [Empty].
Vermont; Basis for exemption: Religious objection: [Empty]; Basis for
exemption: Any objection: Yes; No exemption: [Empty].
Virginia; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Washington; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
West Virginia; Basis for exemption: Religious objection: [Empty]; Basis
for exemption: Any objection: [Empty]; No exemption: Yes.
Wisconsin[A]; Basis for exemption: Religious objection: Yes; Basis for
exemption: Any objection: [Empty]; No exemption: [Empty].
Wyoming; Basis for exemption: Religious objection: [Empty]; Basis for
exemption: Any objection: Yes; No exemption: [Empty].
Sources: State newborn screening statutes and newborn screening
regulations.
Note: GAO analysis of state newborn screening statutes and newborn
screening regulations.
[A] Wisconsin‘s screening statute also authorizes a urine test program
to test infants for causes of congenital disorders, but provides that
no person may be required to participate in that program.
[End of table]
Most States Have Privacy Laws or Regulations That Protect Newborn
Screening Information to Some Extent:
In over half the states, newborn screening statutes and regulations
have provisions that indicate that information collected from newborn
screening is confidential.[Footnote 40],[Footnote 41] However, they
permit information to be released without authorization from the
child‘s legal representative in some circumstances. The most common
provision for release of screening information is for use in
statistical analysis or research, generally with a requirement that the
identity of the subject is not revealed and/or that the researchers
comply with applicable state and federal laws for the protection of
humans in research activities. Some state screening statutes have
additional provisions that allow screening information to be released.
Wisconsin‘s screening statute, for example, allows the information to
be released for use by health care facilities staff and accreditation
organizations for audit, evaluation, and accreditation activities; and
for billing, collection, or payment of claims. A few states have more
restrictive provisions. South Carolina‘s screening statute, for
example, limits disclosure of the information obtained from screening
to the physician, the parents of the child, and the child when he or
she reaches age 18.
State statutes that govern the collection, use, or disclosure of
genetic information may also apply to genetic information obtained from
newborn screening. Twenty-five states have laws that prohibit
disclosure of genetic information without the consent of the
individual; in 23 of these states, the statutes have exceptions that
permit disclosure without consent.[Footnote 42] (See table 6.) For
example, 14 states‘ genetic privacy laws permit disclosure of genetic
information without consent for the purpose of research, provided that
individuals‘ identities are not revealed and/or the research complies
with applicable state and federal laws for the protection of humans in
research activities.
Table 6: Exceptions to Confidentiality Requirements in States‘ Genetic
Privacy Laws:
State with genetic privacy law: Arizona; Exception: Research[A]: Yes;
Exception: Disclosure to health care provider: Yes; Exception: Peer
review or quality assurance activity: Yes; Exception: Establishing
paternity: [Empty]; Exception: In connection with law enforcement or
legal proceedings: [Empty].
State with genetic privacy law: Arkansas; Exception: Research[A]: Yes;
Exception: Disclosure to health care provider: [Empty]; Exception: Peer
review or quality assurance activity: [Empty]; Exception: Establishing
paternity: [Empty]; Exception: In connection with law enforcement or
legal proceedings: [Empty].
State with genetic privacy law: Colorado; Exception: Research[A]: Yes;
Exception: Disclosure to health care provider: [Empty]; Exception: Peer
review or quality assurance activity: [Empty]; Exception: Establishing
paternity: Yes; Exception: In connection with law enforcement or legal
proceedings: [Empty].
State with genetic privacy law: Delaware; Exception: Research[A]:
[Empty]; Exception: Disclosure to health care provider: [Empty];
Exception: Peer review or quality assurance activity: [Empty];
Exception: Establishing paternity: Yes; Exception: In connection with
law enforcement or legal proceedings: Yes.
State with genetic privacy law: Florida; Exception: Research[A]:
[Empty]; Exception: Disclosure to health care provider: [Empty];
Exception: Peer review or quality assurance activity: [Empty];
Exception: Establishing paternity: Yes; Exception: In connection with
law enforcement or legal proceedings: Yes.
State with genetic privacy law: Georgia; Exception: Research[A]: Yes;
Exception: Disclosure to health care provider: [Empty]; Exception: Peer
review or quality assurance activity: [Empty]; Exception: Establishing
paternity: [Empty]; Exception: In connection with law enforcement or
legal proceedings: Yes.
State with genetic privacy law: Illinois; Exception: Research[A]:
[Empty]; Exception: Disclosure to health care provider: Yes; Exception:
Peer review or quality assurance activity: Yes; Exception: Establishing
paternity: Yes; Exception: In connection with law enforcement or legal
proceedings: Yes.
State with genetic privacy law: Louisiana; Exception: Research[A]: Yes;
Exception: Disclosure to health care provider: [Empty]; Exception: Peer
review or quality assurance activity: [Empty]; Exception: Establishing
paternity: Yes; Exception: In connection with law enforcement or legal
proceedings: Yes.
State with genetic privacy law: Maryland; Exception: Research[A]: Yes;
Exception: Disclosure to health care provider: Yes; Exception: Peer
review or quality assurance activity: [Empty]; Exception: Establishing
paternity: [Empty]; Exception: In connection with law enforcement or
legal proceedings: [Empty].
State with genetic privacy law: Massachusetts; Exception: Research[A]:
Yes; Exception: Disclosure to health care provider: [Empty]; Exception:
Peer review or quality assurance activity: [Empty]; Exception:
Establishing paternity: [Empty]; Exception: In connection with law
enforcement or legal proceedings: Yes.
State with genetic privacy law: Missouri; Exception: Research[A]: Yes;
Exception: Disclosure to health care provider: [Empty]; Exception: Peer
review or quality assurance activity: [Empty]; Exception: Establishing
paternity: [Empty]; Exception: In connection with law enforcement or
legal proceedings: Yes.
State with genetic privacy law: Nevada; Exception: Research[A]:
[Empty]; Exception: Disclosure to health care provider: Yes; Exception:
Peer review or quality assurance activity: [Empty]; Exception:
Establishing paternity: Yes; Exception: In connection with law
enforcement or legal proceedings: Yes.
State with genetic privacy law: New Hampshire; Exception: Research[A]:
[Empty]; Exception: Disclosure to health care provider: Yes; Exception:
Peer review or quality assurance activity: [Empty]; Exception:
Establishing paternity: Yes; Exception: In connection with law
enforcement or legal proceedings: Yes.
State with genetic privacy law: New Jersey; Exception: Research[A]:
[Empty]; Exception: Disclosure to health care provider: [Empty];
Exception: Peer review or quality assurance activity: [Empty];
Exception: Establishing paternity: Yes; Exception: In connection with
law enforcement or legal proceedings: Yes.
State with genetic privacy law: New Mexico; Exception: Research[A]:
Yes;
Exception: Disclosure to health care provider: Yes; Exception: Peer
review or quality assurance activity: [Empty]; Exception: Establishing
paternity: Yes; Exception: In connection with law enforcement or legal
proceedings: Yes.
State with genetic privacy law: New York; Exception: Research[A]:
[Empty]; Exception: Disclosure to health care provider: [Empty];
Exception: Peer review or quality assurance activity: [Empty];
Exception: Establishing paternity: [Empty]; Exception: In connection
with law enforcement or legal proceedings: Yes.
State with genetic privacy law: Oregon; Exception: Research[A]: Yes;
Exception: Disclosure to health care provider: [Empty]; Exception: Peer
review or quality assurance activity: [Empty]; Exception: Establishing
paternity: Yes; Exception: In connection with law enforcement or legal
proceedings: Yes.
State with genetic privacy law: Rhode Island; Exception: Research[A]:
Yes; Exception: Disclosure to health care provider: [Empty]; Exception:
Peer review or quality assurance activity: [Empty]; Exception:
Establishing paternity: [Empty]; Exception: In connection with law
enforcement or legal proceedings: [Empty].
State with genetic privacy law: South Carolina; Exception: Research[A]:
[Empty]; Exception: Disclosure to health care provider: [Empty];
Exception: Peer review or quality assurance activity: [Empty];
Exception: Establishing paternity: Yes; Exception: In connection with
law enforcement or legal proceedings: Yes.
State with genetic privacy law: Texas; Exception: Research[A]: Yes;
Exception: Disclosure to health care provider: [Empty]; Exception: Peer
review or quality assurance activity: [Empty]; Exception: Establishing
paternity: Yes; Exception: In connection with law enforcement or legal
proceedings: Yes.
State with genetic privacy law: Utah; Exception: Research[A]: [Empty];
Exception: Disclosure to health care provider: [Empty]; Exception: Peer
review or quality assurance activity: [Empty]; Exception: Establishing
paternity: [Empty]; Exception: In connection with law enforcement or
legal proceedings: Yes.
State with genetic privacy law: Vermont; Exception: Research[A]: Yes;
Exception: Disclosure to health care provider: [Empty]; Exception: Peer
review or quality assurance activity: [Empty]; Exception: Establishing
paternity: Yes; Exception: In connection with law enforcement or legal
proceedings: Yes.
State with genetic privacy law: Washington; Exception: Research[A]:
Yes;
Exception: Disclosure to health care provider: Yes; Exception: Peer
review or quality assurance activity: Yes; Exception: Establishing
paternity: [Empty]; Exception: In connection with law enforcement or
legal proceedings: [Empty].
Sources: State statutes.
Notes: GAO analysis of state statutes. States‘ genetic privacy laws may
also apply to genetic information obtained from newborn screening.
[A] Information may be disclosed for research, subject to conditions
concerning the release of individuals‘ identities and/or compliance
with state and federal laws for the protection of humans in research
activities.
[End of table]
Most state newborn screening statutes and genetic privacy laws do not
include penalties for lack of compliance. According to the National
Conference of State Legislatures, 17 states have laws that provide
specific penalties for violating genetic privacy laws. In 6 of these
states, violations of genetic privacy statutes are punishable by fine
and/or imprisonment. In addition, the statutes authorize civil lawsuits
to obtain damages and, in most instances, court costs and attorneys‘
fees. In 10 of these states, the statutes provide for civil liability
only. In 1 state, violation is punishable only as a crime.
Agency Comments:
We provided a draft of this report to HHS for comment. Overall, HHS
said that the report presents a thorough summary of state newborn
screening programs‘ current practices. (HHS‘s comments are reprinted in
app. VI.) HHS said that the report needed to reflect that newborn
screening is a system that, in addition to testing, includes follow-up,
diagnosis, disease management and treatment, evaluation, and education.
However, the draft report did identify the various components of the
newborn screening system. HHS said that there is a need to more
comprehensively address components of the system beyond testing. For
example, HHS commented that there is a need for a coordinated effort in
states to train and educate health professionals and state newborn
screening program directors in the use of newer technologies. In
addition, it stated that there is a need to provide information to
families and parents about the screening their state provides and the
screening options available to them outside of their state‘s program.
HHS said that it anticipated that the report would, among other things,
include recommendations to improve state newborn screening programs. As
we noted in the draft report, HRSA has initiated a process to develop
recommendations for state newborn screening programs. The scope of our
review focused on providing the Congress with descriptive information
about state programs.
HHS supported the development of benchmarks to help states evaluate the
quality of the various components of the newborn screening system. It
added that one of the most effective ways the federal government can
support state newborn screening programs is by strengthening the
scientific basis for newborn screening through funding of systematic
evaluation of outcomes and the quality of all components of the newborn
screening system.
In its comments, HHS provided information on its efforts related to
newborn screening. For example, HHS described demonstration projects it
funded to examine the use of new technology and initiatives to improve
family and provider education. In addition, HHS indicated that all of
its programs address the recommendations of the AAP newborn screening
task force and encourage the integration of various newborn screening
and genetics services into systems of care. HHS provided technical
comments. We incorporated the technical comments and other information
HHS provided on its programs where appropriate.
As arranged with your offices, unless you publicly announce its
contents earlier, we will not distribute this report until 30 days
after its issue date. We will then send copies of this report to the
Secretary of Health and Human Services, the Administrators of the
Health Resources and Services Administration and the Centers for
Medicare & Medicaid Services, the Directors of the Centers for Disease
Control and Prevention and the National Institutes of Health,
appropriate congressional committees, and others who are interested. We
will also make copies available to others upon request. In addition,
the report will be available at no charge on the GAO Web site at http:/
/www.gao.gov.
If you or your staff have any questions, please contact me at (202)
512-7119. An additional contact and the names of other staff members
who made contributions to this report are listed in appendix VII.
Marjorie Kanof
Director, Health Care--Clinical and Military Health Care Issues:
Signed by Marjorie Kanof
[End of section]
Appendix I: Scope and Methodology:
To do our work, we surveyed the health officers in all the states
during October and November 2002 about their newborn screening
programs.[Footnote 43] We asked each state health officer to work with
laboratory and program administration/follow-up staff in responding to
the questions. The survey asked for information on the process for
selecting disorders to include in newborn screening programs;
laboratory and follow-up activities; parent and provider education
efforts; expenditures and funding sources; efforts to evaluate the
quality of laboratory testing and program administration/follow-up; and
states‘ retention and sharing of screening results. The survey focused
only on screening for metabolic and genetic disorders. We did not ask
for information on disease management and treatment services provided
by state newborn screening programs, and the survey did not collect
information on newborn screening for hearing and infectious diseases.
We pretested the survey in person with laboratory and program
administration/follow-up staff from the Virginia and Delaware newborn
screening programs. In addition, the survey instrument was reviewed by
staff at the Department of Health and Human Services‘ (HHS) Centers for
Disease Control and Prevention (CDC), National Center for Environmental
Health, Newborn Screening Branch, and the National Newborn Screening
and Genetics Resource Center, a project funded by HHS‘s Health
Resources and Services Administration (HRSA). We refined the
questionnaire in response to their comments. We received responses from
all the states. After reviewing the completed questionnaires and
checking the data for consistency, we contacted certain states to
clarify responses and edited survey responses as appropriate. In
addition, we followed up with four states to obtain more detailed
information on their processes for selecting disorders, evaluations of
parent and provider education, evaluations of the quality of laboratory
testing and program administration/follow-up, and mechanisms for
identifying abnormal cases misclassified as normal.
To identify which genetic and metabolic disorders are included in
states‘ newborn screening programs, we reviewed the Resource Center‘s
U.S. National Screening Status Reports. These reports provide
information on the disorders for which states require screening and the
disorders for which screening is provided to selected populations,
through pilot programs, or by request.
To report on efforts by HHS and states to monitor and evaluate the
quality of state newborn screening programs, we reviewed annual summary
reports, proficiency testing results, and other documents from the
Newborn Screening Quality Assurance Program (NSQAP), which CDC operates
with the Association of Public Health Laboratories, and interviewed CDC
staff on states‘ participation. We also reviewed report findings from
the seven technical reviews of state newborn screening programs that
HRSA, CDC, and the Resource Center conducted from 1999 to 2001. We
interviewed Resource Center staff about the content and findings of
these reviews and interviewed officials in five states about actions
taken in response to the review staff‘s findings and recommendations.
To determine how state laws address consent and privacy issues related
to newborn screening, we analyzed state statutes that provide for
newborn screening for genetic and metabolic disorders and state
statutes that relate to privacy of genetic information generally. We
also reviewed state newborn screening regulations as appropriate. The
information on states that require consent for newborn screening is
based on our analysis of state newborn screening and genetic privacy
statutes and the newborn screening regulations in states that do not
have newborn screening statutes. The information on exemptions from
screening is based on our review of state newborn screening statutes
and newborn screening regulations. Information on privacy is based on
our analysis of confidentiality provisions in state newborn screening
statutes and, for those states that do not have confidentiality
provisions in their newborn screening statutes, on confidentiality
provisions in newborn screening regulations. We also analyzed
confidentiality provisions in state genetic privacy statutes.
To identify the newborn screening statutes and regulations that were
within the scope of our review, we relied on research provided by the
National Conference of State Legislatures (NCSL) in fall 2002 and
analyzed only those newborn screening statutes and regulations
identified through that research. With regard to genetic privacy
statutes, we analyzed only those statutes identified by NCSL in an
April 2002 report identifying state genetic privacy laws.[Footnote 44]
We contacted state officials as appropriate to obtain assistance in
locating and interpreting statutory authorities. We also relied on
NCSL‘s determination of the number of states that provide penalties for
the violation of those statutes.
Newborn screening programs are governed by a variety of legal
authorities. We did not research or analyze any case law interpreting
state newborn screening statutes and regulations or genetic privacy
statutes, and we did not research or analyze any written interpretive
guidance issued by states.
We also reviewed relevant literature and obtained information from
individual experts, newborn screening laboratory and maternal and child
health staff in several states, and representatives of organizations
interested in newborn screening, including the American Academy of
Pediatrics, American College of Medical Genetics, American College of
Obstetricians and Gynecologists, American Medical Association,
Association of Maternal and Child Health Programs, Association of
Public Health Laboratories, Association of State and Territorial Health
Officials, and the March of Dimes.
We conducted our work from June 2002 through March 2003 in accordance
with generally accepted government auditing standards.
[End of section]
Appendix II: Number of Disorders Included in State Newborn Screening
Programs, December 2002:
Table 7:
Alabama; Number of disorders: Screening required for all newborns: 5;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Alaska; Number of disorders: Screening required for all newborns: 6;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 1; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Arizona; Number of disorders: Screening required for all newborns: 8;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Arkansas; Number of disorders: Screening required for all newborns: 4;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
California; Number of disorders: Screening required for all newborns:
4; Number of disorders: Screening conducted for selected populations,
as pilot program, or by request: 28; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 0; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 28.
Colorado; Number of disorders: Screening required for all newborns: 7;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Connecticut; Number of disorders: Screening required for all newborns:
8; Number of disorders: Screening conducted for selected populations,
as pilot program, or by request: 1; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 0; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 0.
Delaware; Number of disorders: Screening required for all newborns: 5;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
District of Columbia; Number of disorders: Screening required for all
newborns: 7; Number of disorders: Screening conducted for selected
populations, as pilot program, or by request: 0; [Empty]; Number of
disorders for which screening is conducted using tandem mass
spectrometry (MS/MS)[A,B]: Screening required for all newborns: 0;
Number of disorders for which screening is conducted using tandem mass
spectrometry (MS/MS)[A,B]: Screening conducted for selected
populations, as pilot program, or by request: 0.
Florida; Number of disorders: Screening required for all newborns: 5;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Georgia; Number of disorders: Screening required for all newborns: 8;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Hawaii; Number of disorders: Screening required for all newborns: 7;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 28; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 0; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 28.
Idaho; Number of disorders: Screening required for all newborns: 5;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 27; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 0; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 26.
Illinois; Number of disorders: Screening required for all newborns: 27;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 19; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Indiana; Number of disorders: Screening required for all newborns: 9;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 1; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Iowa; Number of disorders: Screening required for all newborns: 6;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 30; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 1; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 27.
Kansas; Number of disorders: Screening required for all newborns: 4;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Kentucky; Number of disorders: Screening required for all newborns: 4;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Louisiana; Number of disorders: Screening required for all newborns: 5;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Maine; Number of disorders: Screening required for all newborns: 9;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 18; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 1; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 18.
Maryland; Number of disorders: Screening required for all newborns: 9;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Massachusetts; Number of disorders: Screening required for all
newborns: 10; Number of disorders: Screening conducted for selected
populations, as pilot program, or by request: 20; [Empty]; Number of
disorders for which screening is conducted using tandem mass
spectrometry (MS/MS)[A,B]: Screening required for all newborns: 1;
Number of disorders for which screening is conducted using tandem mass
spectrometry (MS/MS)[A,B]: Screening conducted for selected
populations, as pilot program, or by request: 19.
Michigan; Number of disorders: Screening required for all newborns: 7;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Minnesota; Number of disorders: Screening required for all newborns: 5;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 21; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 0; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 19.
Mississippi; Number of disorders: Screening required for all newborns:
5; Number of disorders: Screening conducted for selected populations,
as pilot program, or by request: 0; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 0; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 0.
Missouri; Number of disorders: Screening required for all newborns: 5;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Montana; Number of disorders: Screening required for all newborns: 3;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 18; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 0; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 14.
Nebraska; Number of disorders: Screening required for all newborns: 5;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 28; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 0; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 26.
Nevada; Number of disorders: Screening required for all newborns: 6;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
New Hampshire; Number of disorders: Screening required for all
newborns: 6; Number of disorders: Screening conducted for selected
populations, as pilot program, or by request: 1; [Empty]; Number of
disorders for which screening is conducted using tandem mass
spectrometry (MS/MS)[A,B]: Screening required for all newborns: 0;
Number of disorders for which screening is conducted using tandem mass
spectrometry (MS/MS)[A,B]: Screening conducted for selected
populations, as pilot program, or by request: 0.
New Jersey; Number of disorders: Screening required for all newborns:
14; Number of disorders: Screening conducted for selected populations,
as pilot program, or by request: 0; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 6; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 0.
New Mexico; Number of disorders: Screening required for all newborns:
6; Number of disorders: Screening conducted for selected populations,
as pilot program, or by request: 0; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 0; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 0.
New York; Number of disorders: Screening required for all newborns: 10;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 1; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
North Carolina; Number of disorders: Screening required for all
newborns: 32; Number of disorders: Screening conducted for selected
populations, as pilot program, or by request: 0; [Empty]; Number of
disorders for which screening is conducted using tandem mass
spectrometry (MS/MS)[A,B]: Screening required for all newborns: 25;
Number of disorders for which screening is conducted using tandem mass
spectrometry (MS/MS)[A,B]: Screening conducted for selected
populations, as pilot program, or by request: 0.
North Dakota; Number of disorders: Screening required for all newborns:
4; Number of disorders: Screening conducted for selected populations,
as pilot program, or by request: 2; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 0; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 1.
Ohio; Number of disorders: Screening required for all newborns: 12;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 15; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 6; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 15.
Oklahoma; Number of disorders: Screening required for all newborns: 4;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Oregon; Number of disorders: Screening required for all newborns: 33;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 26; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Pennsylvania; Number of disorders: Screening required for all newborns:
6; Number of disorders: Screening conducted for selected populations,
as pilot program, or by request: 0; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 0; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 0.
Rhode Island; Number of disorders: Screening required for all newborns:
9; Number of disorders: Screening conducted for selected populations,
as pilot program, or by request: 0; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 1; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 0.
South Carolina; Number of disorders: Screening required for all
newborns: 6; Number of disorders: Screening conducted for selected
populations, as pilot program, or by request: 0; [Empty]; Number of
disorders for which screening is conducted using tandem mass
spectrometry (MS/MS)[A,B]: Screening required for all newborns: 1;
Number of disorders for which screening is conducted using tandem mass
spectrometry (MS/MS)[A,B]: Screening conducted for selected
populations, as pilot program, or by request: 0.
South Dakota; Number of disorders: Screening required for all newborns:
3; Number of disorders: Screening conducted for selected populations,
as pilot program, or by request: 29; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 0; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 26.
Tennessee; Number of disorders: Screening required for all newborns: 5;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Texas; Number of disorders: Screening required for all newborns: 5;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Utah; Number of disorders: Screening required for all newborns: 4;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Vermont; Number of disorders: Screening required for all newborns: 7;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Virginia; Number of disorders: Screening required for all newborns: 8;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Washington; Number of disorders: Screening required for all newborns:
4; Number of disorders: Screening conducted for selected populations,
as pilot program, or by request: 0; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 0; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 0.
West Virginia; Number of disorders: Screening required for all
newborns: 3; Number of disorders: Screening conducted for selected
populations, as pilot program, or by request: 1; [Empty]; Number of
disorders for which screening is conducted using tandem mass
spectrometry (MS/MS)[A,B]: Screening required for all newborns: 0;
Number of disorders for which screening is conducted using tandem mass
spectrometry (MS/MS)[A,B]: Screening conducted for selected
populations, as pilot program, or by request: 0.
Wisconsin; Number of disorders: Screening required for all newborns:
21; Number of disorders: Screening conducted for selected populations,
as pilot program, or by request: 5; [Empty]; Number of disorders for
which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening required for all newborns: 14; Number of disorders
for which screening is conducted using tandem mass spectrometry (MS/
MS)[A,B]: Screening conducted for selected populations, as pilot
program, or by request: 3.
Wyoming; Number of disorders: Screening required for all newborns: 6;
Number of disorders: Screening conducted for selected populations, as
pilot program, or by request: 0; [Empty]; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening required for all newborns: 0; Number of disorders for which
screening is conducted using tandem mass spectrometry (MS/MS)[A,B]:
Screening conducted for selected populations, as pilot program, or by
request: 0.
Source: National Newborn Screening and Genetics Resource Center
websites: http://genes-r-us.uthsca.edu/resources/newborn/
screenstatus.htm, downloaded on January 9, 2003, and http://genes-r-
us.uthsca.edu/resources/newborn/msmstests.htm, downloaded on January
8, 2003.
[A] States may use their own laboratory to conduct MS/MS screening or
contract with other laboratories.
[B] Numbers exclude MS/MS screening for phenylketonuria, maple syrup
urine disease, and homocystinuria.
[End of table]
[End of section]
Appendix III: Information on Disorders Most Commonly Included in State
Newborn Screening Programs:
Table 8:
Disorder: Phenylketonuria; National incidence[A]: 1 in 13,947[B];
Description: Deficiency of an enzyme needed to break down the amino
acid phenylalanine; Potential outcomes: Mental retardation, seizures;
Treatment: Low-phenylalanine diet.
Disorder: Congenital hypothyroidism; National incidence[A]: 1 in
3,044[C]; Description: Inability to produce adequate amount of thyroid
hormone; Potential outcomes: Mental retardation, stunted growth;
Treatment: Thyroid hormone.
Disorder: Galactosemia; National incidence[A]: 1 in 53,261[D];
Description: Deficiency of an enzyme needed to break down the milk
sugar galactose; Potential outcomes: Brain damage, liver damage,
cataracts, death; Treatment: Galactose-free diet.
Disorder: Sickle cell diseases; National incidence[A]: 1 in 3,721/; 1
in 7,386[E]; Description: Inherited blood disorder causing hemoglobin
abnormalities; Potential outcomes: Organ damage, delayed growth,
stroke; Treatment: Penicillin, vaccinations.
Disorder: Congenital adrenal hyperplasia; National incidence[A]: 1 in
18,987; Description: Deficiency of an adrenal enzyme needed to produce
cortisol and aldosterone; Potential outcomes: Death due to salt loss,
reproductive and growth difficulties; Treatment: Hormone replacement
and salt replacement.
Disorder: Biotinidase deficiency; National incidence[A]: 1 in 61,319;
Description: Deficiency of the enzyme biotinidase, needed to recycle
the vitamin biotin; Potential outcomes: Mental retardation,
developmental delay, seizures, hearing loss; Treatment: Biotin
supplements.
Disorder: Maple syrup urine disease; National incidence[A]: 1 in
230,028; Description: Deficiency of the enzyme needed to metabolize
leucine, isoleucine, and valine; Potential outcomes: Mental
retardation, seizures, coma, death; Treatment: Dietary management and
supplements.
Disorder: Homocystinuria; National incidence[A]: 1 in 343,650;
Description: Deficiency of the enzyme needed to metabolize the amino
acid homocysteine; Potential outcomes: Mental retardation, eye
problems, skeletal abnormalities, stroke; Treatment: Dietary
management and vitamin supplements.
Sources: National Newborn Screening and Genetics Resource Center and
newborn screening literature.
[A] Preliminary data on disorder incidence presented by the National
Newborn Screening and Genetics Resource Center at the 2002 Newborn
Screening and Genetic Testing Symposium. Incidence rates are based on
data from 1990 to 1999.
[B] Incidence rate is for clinically significant hyperphenylalaninemia,
which includes classical phenylketonuria and clinically significant
phenylketonuria variant.
[C] Incidence rate is for primary congenital hypothyroidism and does
not include other forms of hypothyroidism.
[D] Incidence rate is for classical galactosemia and does not include
other forms of galactosemia.
[E] Sickle cell anemia has an incidence of 1 in 3,721, while Hemoglobin
sickle C disease has an incidence of 1 in 7,386.
[End of table]
[End of section]
Appendix IV: Selected Disorders States Screen for Using MS/MS and
Number
of States That Screen for Each, December 2002:
Table 9:
Disorder: Fatty acid oxidation defects; Number of states[A]: Screening
required for all newborns: [Empty]; Number of states[A]: Screening
conducted for selected populations, as pilot program, or by request:
[Empty].
Disorder: Carnitine palmitoyl transferase deficiency type I (CPT-1);
Number of states[A]: Screening required for all newborns: 2; Number of
states[A]: Screening conducted for selected populations, as pilot
program, or by request: 4.
Disorder: Carnitine palmitoyl transferase deficiency type II (CPT-2);
Number of states[A]: Screening required for all newborns: 4; Number of
states[A]: Screening conducted for selected populations, as pilot
program, or by request: 11.
Disorder: Carnitine/acylcarnitine translocase deficiency (CAT); Number
of states[A]: Screening required for all newborns: 3; Number of
states[A]: Screening conducted for selected populations, as pilot
program, or by request: 8.
Disorder: Long-chain hydroxy acyl-CoA dehydrogenase deficiency
(LCHAD); Number of states[A]: Screening required for all newborns: 4;
Number of states[A]: Screening conducted for selected populations, as
pilot program, or by request: 11.
Disorder: Multiple acyl-CoA dehydrogenase deficiency (GA-II); Number of
states[A]: Screening required for all newborns: 4; Number of states[A]:
Screening conducted for selected populations, as pilot program, or by
request: 11.
Disorder: Short-chain acyl-CoA dehydrogenase deficiency (SCAD); Number
of states[A]: Screening required for all newborns: 5; Number of
states[A]: Screening conducted for selected populations, as pilot
program, or by request: 11.
Disorder: Medium-chain acyl-CoA dehydrogenase deficiency (MCAD);
Number of states[A]: Screening required for all newborns: 13; Number of
states[A]: Screening conducted for selected populations, as pilot
program, or by request: 8.
Disorder: Trifunctional protein deficiency; Number of states[A]:
Screening required for all newborns: 3; Number of states[A]: Screening
conducted for selected populations, as pilot program, or by request: 8.
Disorder: Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD);
Number of states[A]: Screening required for all newborns: 4; Number of
states[A]: Screening conducted for selected populations, as pilot
program, or by request: 11.
Disorder: Long-chain acyl-CoA dehydrogenase deficiency (LCAD); Number
of states[A]: Screening required for all newborns: 4; Number of
states[A]: Screening conducted for selected populations, as pilot
program, or by request: 6.
Disorder: 2,4 dienoyl-CoA reductase deficiency; Number of states[A]:
Screening required for all newborns: 2; Number of states[A]: Screening
conducted for selected populations, as pilot program, or by request: 2.
Disorder: Organic acidemias; Number of states[A]: Screening required
for all newborns: [Empty]; Number of states[A]: Screening conducted for
selected populations, as pilot program, or by request: [Empty].
Disorder: Glutaric aciduria type I (GA-1); Number of states[A]:
Screening required for all newborns: 4; Number of states[A]: Screening
conducted for selected populations, as pilot program, or by request:
11.
Disorder: 3-hydroxy-3-methylglutaryl CoA lyase deficiency (HMG);
Number of states[A]: Screening required for all newborns: 4; Number of
states[A]: Screening conducted for selected populations, as pilot
program, or by request: 11.
Disorder: Isobutyryl-CoA dehydrogenase deficiency; Number of
states[A]: Screening required for all newborns: 1; Number of states[A]:
Screening conducted for selected populations, as pilot program, or by
request: 6.
Disorder: Isovaleric acidemia (IVA); Number of states[A]: Screening
required for all newborns: 5; Number of states[A]: Screening conducted
for selected populations, as pilot program, or by request: 10.
Disorder: Malonic aciduria; Number of states[A]: Screening required for
all newborns: 0; Number of states[A]: Screening conducted for selected
populations, as pilot program, or by request: 5.
Disorder: 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC); Number
of states[A]: Screening required for all newborns: 4; Number of
states[A]: Screening conducted for selected populations, as pilot
program, or by request: 11.
Disorder: Methylmalonic acidemia (MMA); Number of states[A]: Screening
required for all newborns: 5; Number of states[A]: Screening conducted
for selected populations, as pilot program, or by request: 10.
Disorder: Mitochondrial acetoacetyl-CoA thiolase deficiency (3-
ketothiolase); Number of states[A]: Screening required for all
newborns: 3; Number of states[A]: Screening conducted for selected
populations, as pilot program, or by request: 10.
Disorder: Propionic acidemia (PA); Number of states[A]: Screening
required for all newborns: 5; Number of states[A]: Screening conducted
for selected populations, as pilot program, or by request: 10.
Disorder: 2-methylbutyrl-CoA dehydrogenase deficiency; Number of
states[A]: Screening required for all newborns: 2; Number of states[A]:
Screening conducted for selected populations, as pilot program, or by
request: 6.
Disorder: Multiple CoA carboxylase deficiency; Number of states[A]:
Screening required for all newborns: 1; Number of states[A]: Screening
conducted for selected populations, as pilot program, or by request: 4.
Disorder: Other amino acidemias; Number of states[A]: Screening
required for all newborns: [Empty]; Number of states[A]: Screening
conducted for selected populations, as pilot program, or by request:
[Empty].
Disorder: Argininemia; Number of states[A]: Screening required for all
newborns: 2; Number of states[A]: Screening conducted for selected
populations, as pilot program, or by request: 10.
Disorder: Argininosuccinate lyase deficiency (ASA); Number of
states[A]: Screening required for all newborns: 5; Number of states[A]:
Screening conducted for selected populations, as pilot program, or by
request: 10.
Disorder: Citrullinemia; Number of states[A]: Screening required for
all newborns: 5; Number of states[A]: Screening conducted for selected
populations, as pilot program, or by request: 10.
Disorder: Hyperammonemia, hyperornithinemia, homocitrullinuria (HHH);
Number of states[A]: Screening required for all newborns: 2; Number of
states[A]: Screening conducted for selected populations, as pilot
program, or by request: 8.
Disorder: Nonketotic hyperglycinemia; Number of states[A]: Screening
required for all newborns: 1; Number of states[A]: Screening conducted
for selected populations, as pilot program, or by request: 6.
Disorder: 5-oxoprolinuria; Number of states[A]: Screening required for
all newborns: 1; Number of states[A]: Screening conducted for selected
populations, as pilot program, or by request: 4.
Disorder: Tyrosinemia type I; Number of states[A]: Screening required
for all newborns: 3; Number of states[A]: Screening conducted for
selected populations, as pilot program, or by request: 10.
Disorder: Tyrosinemia type II; Number of states[A]: Screening required
for all newborns: 2; Number of states[A]: Screening conducted for
selected populations, as pilot program, or by request: 7.
Source: National Newborn Screening and Genetics Resource Center
website, http://genes-r-us.uthsca.edu/resources/newborn/msmstests.htm,
downloaded January 14, 2003.
[A] ’States“ refers to the 50 states and the District of Columbia.
[End of table]
[End of section]
Appendix V: State Newborn Screening Program Fees and Expenditures Per
Infant Screened:
Table 10:
Alabama; Newborn screening fee[A]: $34.00; Expenditures per infant
screened[B]: $32.11[C].
Alaska; Newborn screening fee[A]: 24.00; Expenditures per infant
screened[B]: 28.78.
Arizona; Newborn screening fee[A]: 20.00/20.00[D]; Expenditures per
infant screened[B]: 25.99[E].
Arkansas; Newborn screening fee[A]: 14.83; Expenditures per infant
screened[B]: 17.95.
California; Newborn screening fee[A]: 60.00; Expenditures per infant
screened[B]: 50.85.
Colorado; Newborn screening fee[A]: 43.47; Expenditures per infant
screened[B]: 30.63.
Connecticut; Newborn screening fee[A]: 28.00; Expenditures per infant
screened[B]: 39.20.
Delaware; Newborn screening fee[A]: 40.69; Expenditures per infant
screened[B]: 61.28.
District of Columbia; Newborn screening fee[A]: No fee; Expenditures
per infant screened[B]: 25.96.
Florida; Newborn screening fee[A]: 20.00; Expenditures per infant
screened[B]: [F].
Georgia; Newborn screening fee[A]: No fee; Expenditures per infant
screened[B]: [F].
Hawaii; Newborn screening fee[A]: 27.00; Expenditures per infant
screened[B]: 26.65.
Idaho; Newborn screening fee[A]: 18.00; Expenditures per infant
screened[B]: 16.11.
Illinois; Newborn screening fee[A]: 32.00; Expenditures per infant
screened[B]: 31.00.
Indiana; Newborn screening fee[A]: 39.50; Expenditures per infant
screened[B]: 28.16[C].
Iowa; Newborn screening fee[A]: 46.00; Expenditures per infant
screened[B]: 32.73.
Kansas; Newborn screening fee[A]: No fee; Expenditures per infant
screened[B]: 17.37.
Kentucky; Newborn screening fee[A]: 14.50; Expenditures per infant
screened[B]: [F].
Louisiana; Newborn screening fee[A]: 18.00; Expenditures per infant
screened[B]: 25.62.
Maine; Newborn screening fee[A]: 33.00; Expenditures per infant
screened[B]: 34.37.
Maryland; Newborn screening fee[A]: 30.00; Expenditures per infant
screened[B]: 30.90[C].
Massachusetts; Newborn screening fee[A]: 49.55; Expenditures per infant
screened[B]: 50.12.
Michigan; Newborn screening fee[A]: 42.61; Expenditures per infant
screened[B]: 25.69[C].
Minnesota; Newborn screening fee[A]: 21.00; Expenditures per infant
screened[B]: [F].
Mississippi; Newborn screening fee[A]: 25.00; Expenditures per infant
screened[B]: 25.00.
Missouri; Newborn screening fee[A]: 25.00; Expenditures per infant
screened[B]: 26.02.
Montana; Newborn screening fee[A]: 36.92; Expenditures per infant
screened[B]: 48.35.
Nebraska; Newborn screening fee[A]: 50.00/54.60[G]; Expenditures per
infant screened[B]: 44.01.
Nevada; Newborn screening fee[A]: 30.00; Expenditures per infant
screened[B]: 22.96.
New Hampshire; Newborn screening fee[A]: 18.00; Expenditures per infant
screened[B]: 22.24.
New Jersey; Newborn screening fee[A]: 34.00; Expenditures per infant
screened[B]: 38.27[C].
New Mexico; Newborn screening fee[A]: 32.00; Expenditures per infant
screened[B]: 31.59.
New York; Newborn screening fee[A]: No fee; Expenditures per infant
screened[B]: 39.92.
North Carolina; Newborn screening fee[A]: 10.00; Expenditures per
infant screened[B]: 14.75.
North Dakota; Newborn screening fee[A]: 18.00; Expenditures per infant
screened[B]: 20.81.
Ohio; Newborn screening fee[A]: 33.75; Expenditures per infant
screened[B]: 21.77[C].
Oklahoma; Newborn screening fee[A]: 10.50; Expenditures per infant
screened[B]: 23.43.
Oregon; Newborn screening fee[A]: 27.00; Expenditures per infant
screened[B]: 25.05.
Pennsylvania; Newborn screening fee[A]: No fee; Expenditures per infant
screened[B]: 19.91.
Rhode Island; Newborn screening fee[A]: 59.00; Expenditures per infant
screened[B]: 38.52.
South Carolina; Newborn screening fee[A]: 21.00; Expenditures per
infant screened[B]: 38.28.
South Dakota; Newborn screening fee[A]: No fee; Expenditures per infant
screened[B]: [H].
Tennessee; Newborn screening fee[A]: 17.50; Expenditures per infant
screened[B]: 19.34.
Texas; Newborn screening fee[A]: 19.50; Expenditures per infant
screened[B]: 19.74.
Utah; Newborn screening fee[A]: 31.00; Expenditures per infant
screened[B]: 19.62.
Vermont; Newborn screening fee[A]: 27.00; Expenditures per infant
screened[B]: 27.60.
Virginia; Newborn screening fee[A]: 27.00; Expenditures per infant
screened[B]: 30.89.
Washington; Newborn screening fee[A]: 40.40; Expenditures per infant
screened[B]: 39.31.
West Virginia; Newborn screening fee[A]: No fee; Expenditures per
infant screened[B]: 15.98.
Wisconsin; Newborn screening fee[A]: 59.50; Expenditures per infant
screened[B]: 33.35.
Wyoming; Newborn screening fee[A]: No fee; Expenditures per infant
screened[B]: 16.23.
Source: GAO Survey of State Newborn Screening Programs for Genetic and
Metabolic Disorders, October 21, 2002.
[A] We asked states to report their current fee. States responded to
the survey in October and November 2002.
[B] State fiscal year 2001.
[C] State‘s expenditures per infant screened may not reflect a typical
year because the state reported that its expenditures for state fiscal
year 2001 included a significant, nonrecurring expenditure.
[D] State charges two fees, one at initial screening and another at the
second screening.
[E] Expenditures include disease management and treatment services.
[F] Expenditure per infant screened not calculated because state did
not report number of infants screened.
[G] Fee varies depending on laboratory conducting the screening.
[H] Expenditure information not available for state fiscal year 2001.
[End of table]
[End of section]
Appendix VI: Comments from the Department of Health and Human Services:
DEPARTMENT OF HEALTH & HUMAN SERVICES Office of Inspector General:
Washington, D.C. 20201:
MAR 6 2003:
Ms. Marjorie E. Kanof Director, Health Care - Clinical and Military
Health Care Issues United States General Accounting Office Washington,
D.C. 20548:
Dear Ms. Kanof:
Enclosed are the department‘s comments on your draft report entitled,
’Newborn Screening: Characteristics of State Programs.“ The comments
represent the tentative position of the department and are subject to
reevaluation when the final version of this report is received.
The department also provided several technical comments directly to
your staff.
The department appreciates the opportunity to comment on this draft
report before its publication.
Sincerely,
Janet Rehnquist Inspector General:
Signed by Janet Rehnquist:
Enclosure:
The Office of Inspector General (OIG) is transmitting the department‘s
response to this draft report in our capacity as the department‘s
designated focal point and coordinator for General Accounting Office
reports. The OIG has not conducted an independent assessment of these
comments and therefore expresses no opinion on them.
Comments of the Department of Health and Human Services on the General
Accounting Office‘s Draft Report, ’New horn Screening: Characteristics
of State Programs“ (GAO-03-449):
The Department of Health and Human Services (HHS) appreciates the
opportunity to comment on the GAO‘s draft report, ’Newborn Screening:
Characteristics of State Programs.“ Overall, the report presents a
thorough summary of the current practices and the successes of and
challenges to newborn screening programs. A summary of general comments
from the Office of the Assistant Secretary for Planning and Evaluation,
the Health Resources and Services Administration (HRSA), the Centers
for Disease Control and Prevention (CDC), and the National Institutes
of Health (NIH) are presented below.
General Comments:
Newborn screening is more than a screening test; this conceptual
framework needs to be reflected in the report. The screening test is
only part of a newborn screening system that includes follow-up,
diagnosis, management„ treatment, evaluation, and education. In the
coming years, there will be a need to more comprehensively address
these additional components of the system. For example, there is a need
for concerted, coordinated effort at the state levels to train and
educate health professionals and state newborn screening program
directors in the use of newer technologies such as tandem mass
spectrometry. A similar effort needs to be made with families and
parents. They need to understand what newborn screening is, how it is
done, who performs it, and where. They also need information about the
medical conditions their state mandates and offers in its screening
program, and the options available for screening for conditions in
addition to those for which the state screens.
The HHS anticipated a report that would review the functioning of state
newborn screening programs, identify gaps, and make recommendations for
improvements to ensure the health of our nation‘s children. Although
the GAO report does point to the lack of uniformity between states, HHS
would hope that the report‘s recommendations also address identified
needs listed above. In addition, HHS would like to see benchmarks which
states could use to evaluate the various components of the newborn
screening system (and although beyond the scope of the report,
including treatment and long-term follow-up). Both the National
Committee for Clinical Laboratory Standards and the HRSA-funded Council
of Regional Genetic Services Networks (CORN) have published national
standards for the various components of newborn screening, including
standards for specimen collection for newborn screening programs. The
HHS would like to see additional work on the application of these
standards. The following is an example of an area that might have been
addressed in greater detail:
Turnaround Time - Little is known regarding the time to the receipt of
repeat specimens in cases where the initial specimen was either not
collected, was improperly collected, or resulted in am abnormal initial
screen.
The HHS believes strengthening the scientific basis for newborn
screening through funding of systematic evaluation of outcomes and the
quality of all components of the newborn screening system is one of the
most effective ways the federal government can support state newborn
screening programs.
HHS Support of State Newborn Screening Programs:
The HHS has supported the development of newborn screening programs
since the 1960‘s. Research at both NIH, specifically that of the
National Institute of Child Health and Human Development and the HRSA‘s
Maternal and Child Health Bureau (MCHB) have provided the groundwork
for newborn screening. The National Center for Environmental Health‘s
Newborn Screening Quality Assurance Program at CDC has served to
facilitate quality assurance of the state laboratories. The CDC‘s
National Center on Birth Defects and Developmental Disabilities
(NCBDDD) provides expertise in the areas of epidemiologic surveillance
and evaluation. In collaboration with research, laboratory quality
assurance and surveillance activities supported by NIH and CDC, the
discretionary grants portion of HRSA‘s Maternal and Child Health Block
Grant Program, which is funded under Title V of the Social Security Act
as a Special Project of Regional and National Significance (SPRANS),
has borne primary responsibility for funding federal newborn and other
genetic screening, counseling, and information projects.
In 1981 newborn screening programs became a SPRANS funding category.
For a 3-year period during the mid-1980s, MCHB state grant allotments
were also supplemented to encourage statewide newborn screening for
sickle cell disease, which led to the rapid spread of these programs.
Federal funding was welcomed by the states, whose health department
budgets rarely covered such activities. By 1990, all 50 states, the
District of Columbia, Puerto Rico, and the Virgin Islands had begun to
develop statewide capacity for testing, counseling, education, and
referral for sickle cell and other genetic disorders. By the late
1990‘s all states had their own newborn screening laws. As a result of
the laws mandating phenylketonuria (PKU) testing and the establishment
of health department newborn heelstick screening units, state newborn
heelstick screening programs evolved with the goal of providing safe
screening tests and appropriate follow-up to every newborn. In 1998,
HRSA requested the American Academy of Pediatrics to convene a Newborn
Screening Task Force (co-sponsored by NIH, CDC, the Agency for
Healthcare Research and Quality [AHRQ], and national public health
organizations), which provided recommendations on:
* The use of new and evolving technologies such as mass spectrometry
and
DNA-based technologies in newborn screening programs. These
technologies enable:
screening for many conditions for which there is no effective
treatment. Uniformity of standards across states to assure access to
screening tests and procedures that meet national standards and
guidelines.
Strategies for family/public information about newborn screening.
All of HHS‘ programs are addressing the Task Force recommendations and
have been developed to encourage the integration of various types of
federal, state, and community:
funded newborn screening and genetics services into systems of care
that are responsive to the individual needs of the people being served.
Relevant to newborn screening, most HHS programs (HRSA‘s MCHB and CDC‘s
Newborn Screening Quality Assurance Program [NSQAP] and NCBDDD) fund
state public health agencies and have included:
Technical Assistance to States:
In fiscal year (FY) 2001, MCHB began funding a National Newborn
Screening and Genetics Resource Center (Center). This Center is funded
under a cooperative agreement with the University of Texas Health
Science Center, San Antonio. The Center provides technical assistance
to the states around newborn screening and genetics issues. The Center
also provides a forum for interaction between consumers, health care
professionals, researchers, organizations, and policy makers involved
in refining and developing public health newborn screening, and
genetics programs. In addition, through its website, http://genes-r-
us.uthscsa.edu/, it serves as a national resource for information and
education on newborn screening and public health genetics.
All state newborn screening laboratories voluntarily participate in
CDC‘s NSQAP for proficiency testing and quality assurance. The NCBDDD
is currently devoting staff resources to studies of the effectiveness
and cost-effectiveness of newborn screening and is working in
collaboration with state governments on these studies. The CDC staff
has published studies assessing the benefits of newborn screening for a
range of disorders, including metabolic disorders, sickle cell disease,
and cystic fibrosis. The CDC is also currently funding four states to
conduct long-term follow up of children identified through newborn
screening programs.
Guidelines for Uniformity:
In FY 2001, MCHB contracted with the American College of Medical
Genetics (ACMG) to convene a group of experts to standardize: outcomes
and guidelines for state newborn screening programs, and to define
responsibilities for collecting and evaluating outcome data. The MCHB
expects this contract to produce a recommendation for a uniform panel
of conditions for states to adopt in their newborn screening programs.
Representatives from HRSA, NIH, CDC and AHRQ, as organizational
liaisons, are participating in this process. In addition, HHS has
issued a charter for an Advisory Committee on Heritable Disorders and
Genetic Diseases in Infants and Children, which was authorized by the
Children‘s Health Act of 2000 to provide advice to the Secretary on
newborn screening issues. The committee will be informed by the report
of the ACMG expert group, but substantial further work may be needed
prier to the issuance of recommendations to states. The HHS supports
the development of federal screening recommendations that will be
preceded by rigorous systematic reviiews of scientific evidence
conducted under open peer review.
Use of New Technology:
In FY 2001, MCHB funded demonstration projects to identify strategies
and develop materials for examining the clinical validity and utility
of new and emerging technologies within newborn screening programs.
In 2003, HRSA and the National Newborn Screening and Genetics Resource
Center have conducted six sessions to train state newbom, screening
program laboratory scientists and program coordinators in the use of
tandem mass spectrometry. These sessions are co-sponsored by CDC and
the Association of Public Health Laboratory Directors.
Family Education:
In FY 2001 and 2002, MCHB funded cooperative agreements with the March
of Dimes and the Genetic Alliance to educate families about newborn
screening and genetics.
Coordination:
In FY 1998, MCHB began a pilot initiative to stimulate the integration
of newborn screening programs and their information systems among the
hospitals, the state laboratories and diagnostic centers, the infant‘s
medical home, and the subspecialists who give the infant further
diagnosis and treatment. These pilot projects have enhanced states‘
capacity to monitor access to care and outcomes; and to better
integrate state newborn screening programs with the state Title V
system of services for children with special health care needs, thereby
better coordinating the delivery of early treatment and intervention.
Partnerships among Health Care Professionals:
Since FY 1999, MCHB has funded the American Academy of Pediatrics to
educate its membership about newborn screening. The Academy maintains a
member website dedicated to screening.
[End of section]
Appendix VII: GAO Contact and Staff Acknowledgments:
GAO Contact:
Helene F. Toiv, (202) 512-7162:
Acknowledgments:
In addition to the person named above, key contributors to this report
were Janina Austin, Emily Gamble Gardiner, Ann Tynan, Ariel Hill, Kevin
Milne, Cindy Moon, and Susan Lawes.
[End of section]
FOOTNOTES
[1] In this report, ’states“ refers to the 50 states and the District
of Columbia.
[2] All states have screening statutes or regulations that specify
certain health care providers who are responsible for ensuring that
newborns are screened, such as the attending physician, nurse, midwife,
hospital, or other institution caring for the infant. Some state
screening statutes and regulations include a child‘s parent among those
who are responsible for ensuring that screening occurs.
[3] Council of Regional Networks for Genetic Services, ’U.S. Newborn
Screening System Guidelines: Statement of the Council of Regional
Networks for Genetic Services,“ Screening, vol. 1 (1992). Additional
CORN guidelines were published in 2000; see Council of Regional
Networks for Genetic Services, ’U.S. Newborn Screening System
Guidelines II: Follow-up of Children, Diagnosis, Management, and
Evaluation--Statement of the Council of Regional Networks for Genetic
Services,“ Supplement to The Journal of Pediatrics, vol. 137, no. 4
(2000).
[4] The Newborn Screening Branch is in the National Center for
Environmental Health‘s Department of Laboratory Services.
[5] NSQAP has a memorandum of understanding with APHL. APHL provides
assistance to NSQAP on how the program operates, including input on how
to report data and which disorders to include in NSQAP.
[6] Pub. L. No. 100-578 § 2, 102 Stat. 2903, 2907.
[7] Proficiency testing is the process of sending sample specimens to
laboratories to verify the accuracy and reliability of their tests.
[8] This could also result in denial of Medicare payments.
[9] Pub. L. No. 106-310, § 2601, 114 Stat. 1101, 1164.
[10] Pub. L. No. 104-191 § 264, 110 Stat. 1939, 2033-2034.
[11] There are additional exceptions to facilitate compliance with
state reporting requirements and other public health purposes.
[12] For example, Connecticut, which screens for 8 disorders, plans to
add 3 disorders to its program in March 2003 and is considering adding
others. Mississippi, which screens for 5 disorders, is in the process
of reviewing proposals from laboratories to conduct screening for 35
additional disorders. Virginia, which screens for 8 disorders, has
added medium-chain acyl-CoA dehydrogenase deficiency (MCAD) to the
state‘s newborn screening program, contingent on the program‘s
acquiring funding to support follow-up staff and the purchase of
necessary equipment. Children with MCAD cannot convert fat to energy,
and must avoid fasting, which might occur when the child is ill. To
avoid risk of seizures, brain damage, or death, these children must
either continue eating while ill or receive nutrients under medical
supervision.
[13] American Academy of Pediatrics Newborn Screening Task Force,
’Serving the Family From Birth to the Medical Home: Newborn Screening:
A Blueprint for the Future--A Call for a National Agenda on State
Newborn Screening Programs,“ Pediatrics, vol. 106, no. 2 (2000). HRSA
funded the task force.
[14] There has been discussion among experts about the appropriate use
of MS/MS in newborn screening. This has focused on several issues,
including whether the incidence and severity of the disorders detected
by MS/MS justifies screening and whether effective treatment would be
available for disorders detected.
[15] Twelve additional states reported they plan to begin using MS/MS
by the end of 2003.
[16] NIH consensus statements are prepared by a nonfederal panel of
experts and reflect the panel‘s assessment of medical knowledge
available at the time the statement is written.
[17] The expert group is also charged with recommending minimum
standards for state newborn screening programs to use in assessing and
evaluating their programs, and with recommending health outcomes that
would be appropriate to use in monitoring and evaluating newborn
screening. In addition, it is to consider the value of establishing a
national process for the evaluation and oversight of newborn screening
programs.
[18] The 11 states are California, the District of Columbia, Delaware,
Maryland, Missouri, Nebraska, New Mexico, Oregon, Vermont, Wisconsin,
and Wyoming. Some of these state statutes require that specific
information be provided to parents, such as the purpose of the
screening and the risks involved. Other statutes do not specify the
type of information that should be communicated to parents.
[19] Five of these states and five additional states reported that they
communicate information to health care providers on parents‘ option to
obtain testing for additional disorders that are not included in the
state‘s program.
[20] There are two types of abnormal results. Those that are strongly
positive require the newborn to immediately receive diagnostic tests or
treatment. Those for which the reliability of the result is
questionable require testing of a sample from a second specimen, which
is less time-critical.
[21] One state reported that testing samples from second specimens is
required if the first specimen is collected before the newborn is 48
hours old, regardless of whether the initial test result was normal or
abnormal. Thirteen states reported testing samples from second
specimens for all newborns for all tests included in the initial
screen.
[22] National Newborn Screening and Genetics Resource Center, National
Newborn Screening Report - 1999, (Austin, Tex.: July 2002).
[23] We asked states to provide us expenditure information for
laboratory and program administration/follow-up; we instructed states
to include only those follow-up activities that are conducted through
confirmation of diagnosis and referral for treatment. We did not ask
for expenditure information for disease management and treatment
services.
[24] Expenditure calculations were based on responses from 50 states;
South Dakota reported that expenditure information was not available
for state fiscal year 2001. Six states reported that their expenditures
included significant, nonrecurring expenses in state fiscal year 2001,
such as for the purchase of MS/MS equipment or computer software. These
expenditures ranged from $22,645 to $415,835, totaling about $1
million. In addition, one state told us that the program
administration/follow-up expenditures it reported included
approximately $50,000 to $75,000 for disease management and treatment
services.
[25] We were unable to calculate expenditures per infant screened for
five states. South Dakota reported that expenditure information was not
available for state fiscal year 2001. Florida, Georgia, Kentucky, and
Minnesota did not provide information on the number of infants
screened.
[26] Expenditure calculations are based on responses from 49 states.
South Dakota reported that expenditure information was not available
for state fiscal year 2001. New York provided total expenditure
information but did not separately identify expenditures for the
laboratory and program administration/follow-up components.
[27] We asked states to report whether they currently charge a fee, and
if so, the amount of that fee. States responded to the survey in
October and November 2002.
[28] States may have also used fees to support disease management and
treatment activities.
[29] South Dakota is not included in any of the calculations related to
funding sources; it reported that information on state fiscal year 2001
funding sources was not available.
[30] Medicaid may reimburse hospitals for newborn screening services on
a fee-for-service basis or as part of a maternity care package.
[31] To conduct proficiency testing, NSQAP prepares and distributes
specimens quarterly to participating laboratories. NSQAP does not
include information on the expected results with these specimens.
Laboratories analyze samples from the specimens and return their
analytical results and clinical assessments to NSQAP for review. NSQAP
compares the laboratory‘s results to the expected results for the
specimen. All laboratories receive at least two abnormal specimens for
each disorder for which they test during the course of the year. These
proficiency testing services are provided at no charge to laboratories.
[32] According to NSQAP officials, when a laboratory misclassifies a
normal specimen as abnormal, they inform the laboratory of the
misclassification, but do not offer additional assistance. This
misclassification is not considered a serious problem because the
additional laboratory testing that should follow an abnormal screening
result would confirm that the newborn does not have the disorder.
[33] NSQAP cosponsored this meeting with HRSA, APHL, and the Wisconsin
Department of Health.
[34] The manufacturers of the filter paper voluntarily send
statistically valid sample sets of production lots for evaluation
against specific NSQAP criteria.
[35] Prior to 1999, HRSA contracted with an expert panel to conduct
these reviews.
[36] Four states requested a second review several years after
receiving the first review. In addition to these 22 states, Guam and
Saipan have also participated in the program.
[37] In addition, some states have developed other performance measures
related to newborn screening, which they submit to HRSA as part of
their Maternal and Child Health Services Block Grant annual report. For
example, one state reports on the percentage of newborns with abnormal
screening results who receive follow-up.
[38] These states do not have newborn screening statutes.
[39] Both Wyoming‘s newborn screening statute and Maryland‘s newborn
screening regulation expressly require informed consent; however,
neither state‘s newborn screening statute or regulation defines this
term.
[40] We found no limitation on the ability of laboratories or state
agencies to inform health care providers attending newborns with
abnormal screening results. On the contrary, many statutes and
regulations require laboratories and state agencies to inform providers
of abnormal screening results.
[41] As defined in federal regulations implementing the Health
Insurance Portability and Accountability Act of 1996, the term health
information would also include newborn screening information.
[42] This analysis is based on National Conference of State
Legislatures‘ information indicating that 29 states have laws that
govern the privacy of genetic information. In 4 of these states, the
statutes relate only to collection and/or use of genetic information.
[43] ’States“ refers to the 50 states and the District of Columbia.
[44] National Conference of State Legislatures, Genetics Policy Report,
Privacy (Washington, D.C.: April 2002).
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