Newborn Screening: Characteristics of State Programs
Published: 2003-03-17T00:00:00

Fast Facts:

Highlights:
section_title: Why GAO Did This Study
paragraphs: 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.
section_title: What GAO Found
paragraphs: 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.

section_title: Letter
paragraphs: 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. 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.
subsections: section_title: Background
paragraphs: 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.
subsections: section_title: Federal Role in Newborn Screening
paragraphs: 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.
section_title: Federal Privacy Standards
paragraphs: 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.
section_title: Disorders Included in State Newborn Screening Programs Vary, but Administration of Program Components Is Similar
paragraphs: 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.
subsections: section_title: Most States Screen for Eight Disorders or Fewer
paragraphs: 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.)
section_title: Most States Provide Information for Parents and Conduct Provider Education, but Few Provide Information to Parents on Screening Not Included in State Program
paragraphs: 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.
section_title: States Generally Notify Multiple Parties of Abnormal and Normal Screening Results and Follow Up on Abnormal Results
paragraphs: 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.
section_title: State Spending on Newborn Screening Varies, and Majority of State Programs Receive Most Funding from Fees
paragraphs: 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.
subsections: section_title: Newborn Screening Expenditures Vary by State
paragraphs: 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.
section_title: State Newborn Screening Programs Are Funded Primarily through Fees
paragraphs: 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.
section_title: Newborn Screening Quality Assurance Efforts Focus on Laboratory Testing and Performance Monitoring
paragraphs: 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.
subsections: section_title: CDC Provides Proficiency Testing and Other Quality Assurance Services to Newborn Screening Laboratories
paragraphs: 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.
section_title: HRSA Funds Voluntary Technical Reviews of State Newborn Screening Programs
paragraphs: 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.
section_title: Most State Newborn Screening Programs Reported Evaluating Laboratory or Program Administration/Follow-up Activities
paragraphs: 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.
section_title: States Generally Do Not Require Consent for Newborn Screening and Most Limit Disclosure of Screening Information
paragraphs: 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.
subsections: section_title: Consent Is Generally Not Required for Newborn Screening, but Many States Allow Religious Exemptions
paragraphs: 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.)
section_title: Most States Have Privacy Laws or Regulations That Protect Newborn Screening Information to Some Extent
paragraphs: 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.
section_title: Agency Comments
paragraphs: 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.
section_title: Appendix I: Scope and Methodology
paragraphs: 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.
section_title: Appendix II: Number of Disorders Included in State Newborn Screening Programs, December 2002
paragraphs: 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)
section_title: Appendix III: Information on Disorders Most Commonly Included in State Newborn Screening Programs
subsections: section_title: National incidence Description
section_title: Appendix IV: Selected Disorders States Screen for Using MS/MS and Number of States That Screen for Each, December 2002
section_title: Appendix V: State Newborn Screening Program Fees and Expenditures Per Infant Screened
paragraphs: Expenditure per infant screened not calculated because state did not report number of infants  screened.
Expenditure information not available for state fiscal year 2001.
section_title: Appendix VI: Comments from the Department of Health and Human Services
section_title: Appendix VII: GAO Contact and Staff Acknowledgments
subsections: section_title: GAO Contact
section_title: Acknowledgments
paragraphs: 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.