Newborn Screening: Characteristics of State Programs
Released: 2003-04-16T00:00:00

Letter

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. 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 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, in partnership with the Association of Public Health Laboratories (APHL), operates NSQAP. 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, 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. Laboratories that fail to meet CLIA’s quality requirements are subject to sanctions, including denial of Medicaid payments. 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. 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, 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. 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.

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. 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. Twenty-one states use MS/MS in their screening programs (see app. II); 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. 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. 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.)

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. 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. 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 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.

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. 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.

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 2001.23, 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. 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. 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.

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.

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.

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. 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 2001.28, 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. The average fee in the states that charged a fee was about $31, with fees ranging from $10 to $60.

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.

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. 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.

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. 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. 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. 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; 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.

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, Maryland’s regulations on newborn screening require consent for screening.

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.)

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.40, 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. (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.

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.

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.

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.

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. 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. 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.

Appendix II: Number of Disorders Included in State Newborn Screening Programs, December 2002

Number of disorders for which screening is conducted using tandem mass spectrometry (MS/MS)

Number of disorders for which screening is conducted using tandem mass spectrometry (MS/MS)

Appendix III: Information on Disorders Most Commonly Included in State Newborn Screening Programs

National incidence Description

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

Expenditure per infant screened not calculated because state did not report number of infants screened.

Expenditure information not available for state fiscal year 2001.

Appendix VI: Comments from the Department of Health and Human Services

Appendix VII: GAO Contact and Staff Acknowledgments

GAO Contact

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.