PEDIATRICS Vol. 106 No. 2 Supplement August 2000, pp. 389-422

Serving the Family From Birth to the Medical Home
Newborn Screening: A Blueprint for the Future  A Call for a National Agenda on State Newborn Screening Programs

	I. BACKGROUND

Newborn screening in the United States is a public health program aimed at the early identification of conditions for which early and timely interventions can lead to the elimination or reduction of associated mortality, morbidity, and disabilities. This screening takes place within the context of a newborn screening system, and involves the following components: screening, short-term follow-up, diagnosis, treatment/management, and evaluation. Inherent to each of these components is an education process.

The screening programs like these for the 4 million infants born each year in the United States have been heralded as successful and cost-effective.^1-5 The newborn screening program's efficiency and effectiveness depends on the smooth integration of sample collection, laboratory testing, follow-up, diagnosis, timely treatment, and tracking of outcomes.^6-11 The foundation and justification of newborn screening systems rest on the principles that testing procedures are readily available; technically feasible; economically sound; and clearly beneficial to affected newborns, their families, and to society.^10,12-14 The universal acceptance of newborn screening for specified conditions over the past 3 decades attests to the undeniable benefits that flow from early testing and prompt, appropriate therapy. However, although newborn screening systems have succeeded in preventing morbidity and mortality, controversies, challenges, and opportunities continue.

The History of Newborn Screening

Newborn screening programs began in the early 1960s with the original work of Dr Robert Guthrie, who developed a screening test for phenylketonuria (PKU) and a system for collection and transportation of blood samples on filter paper.^15,16 By 1962, Massachusetts launched a voluntary newborn PKU screening program that demonstrated the feasibility of mass genetic screening.¹⁷

Initially, newborn screening for PKU was not a health department role or a legislated activity. Health professionals were slow to adopt the practice of screening for PKU, and the responsibility for screening was not defined (eg, should it be the responsibility of the hospital in which the infant was born, the mother's obstetrician, or the infant's pediatrician or primary care health professional). The American Academy of Pediatrics (AAP), acting as the professional association that develops policy for the care of children, raised concerns about the sensitivity and specificity of PKU screening tests, as well as the efficacy of early intervention for PKU.^16,17 Out of these concerns, the need for further research about this testing was recognized, and the federal Children's Bureau (now the federal Maternal and Child Health Bureau [MCHB]) funded a collaborative study to address questions and concerns about the effectiveness of the PKU screening test.^16,17

At the same time, advocates for children remained concerned that children with undetected PKU were at high risk for mental retardation.^16,17 The National Association for Retarded Citizens (now the ARC) proposed model legislation for creation of public programs to address low detection rates, and also conducted an extensive grass-roots lobbying effort to support passage of mandatory PKU screening legislation.¹⁶ Many state health departments supported the adoption of such legislation. The Kennedy Administration, with the guidance of the Presidential Advisory Commission on Mental Retardation, was also supportive. The Commission hired the Advertising Council, which mounted a public campaign for mandatory PKU screening. Other advocacy groups, such as the March of Dimes Birth Defects Foundation, mobilized volunteers to lobby for passage of legislation at the state level. As a result of this multidimensional advocacy campaign, most states passed laws in the early 1960s that mandated newborn screening for PKU.^17-19 Forty-three states had formal statutes by 1973. State health departments, particularly their maternal and child health (MCH) programs (funded by Title V of the Social Security Act of 1935), assumed the central role in implementation of these new laws.^16,17

As a response to this mandate, some states set up screening laboratories or added phenylalanine analysis to their state laboratory's repertoire of tests. In other states, private laboratories played a major role. Quality control was difficult because of the number of and the variability among testing sites; and became even more difficult as states added other genetic tests to their newborn screening batteries. Early in the 1970s, the need to improve quality assurance through systematic proficiency testing was recognized. In an early proficiency-testing study, the Centers for Disease Control and Prevention (CDC) found marked variability among health department laboratories. As a result, the Newborn Screening Quality Assurance Program was begun at the CDC, with additional funding from the Health Resources and Services Administration (HRSA).²⁰ (See further discussion in Section II, Public Health Infrastructure.)

In 1976, federal legislation to support screening for genetic diseases was adopted, and in fiscal years 1979 and 1980, 34 state genetic service programs received federal funding.^21,22 This support was welcomed by the states, as the cost of screening tests and the health departments' coordination of screening activities had not been completely covered by many state budgets.

As a result of the laws mandating PKU testing, and the establishment of health department newborn screening units that occurred in the 1960s and 1970s:

• Every newborn had an opportunity to be screened for PKU when laws were properly implemented; consequently, most were screened.
• Financial barriers to screening and diagnosis were removed, but families often had to pay for the special formula, special foods, and other related treatments.
• State newborn screening programs evolved, with the goal of providing safe screening tests and appropriate follow-up to every newborn.¹⁷

During the 1980s, further systems development took place at the state and regional level. Newborn screening systems were set up by public health agencies to ensure coordination between the hospitals from which most specimens were received, the public health laboratory, the infant's pediatrician or primary care health professional to whom positive results were reported, and pediatric subspecialists to whom infants were referred for diagnosis and treatment.^7,12,23-26 Together these entities comprised the backbone of newborn screening systems. Some state newborn screening systems also played a role coordinating follow-up^25,27; depending on their public health structure, medical care structure, and available resources. In many states, the Title V Children With Special Health Care Needs (CSHCN) programs performed this role.

In 1985, the Council of Regional Networks for Genetic Services (CORN) was developed in response to the need for an organization to facilitate state genetic program efforts through coordination and special initiatives. The CORN published newborn screening system guidelines that defined a 5-part system of screening, follow-up, diagnosis, treatment/management, and evaluation.^7,9 These guidelines were not treatment guidelines or standards of care, but provided public health agencies with a detailed framework for a systems approach to newborn screening.

By 1985, 12 states had laws allowing charges or fees for screening tests.¹⁸ Today, a majority of the states have established newborn screening fees to be collected from the health care professional, birthing facility, third-party payer, or the parent of the newborn (see Section V, The Economics of Screening). Although newborn screening fees are collected in most states, financing the treatment of children identified with genetic conditions through newborn screening remains problematic. Eligible families in many states are ensured access to therapy (eg, low phenylalanine diet for PKU),^15,16 particularly when the special formula is deemed a prescription drug. Families deemed ineligible financially may be burdened by the cost of necessary treatments. However, when special PKU formula is classified as a food, many health insurers refuse to cover it at all; creating a problem for both eligible and ineligible families.

Now, after >30 years of experience with PKU, it is clear that knowledge regarding PKU and the approach to newborn screening were rudimentary when the programs were first launched. Studies to validate the screening test, and to assess the safety and effectiveness of a special diet to prevent mental retardation, were completed after laws were implemented. However, the history of these efforts has set the context for the role of public health in newborn screening and genetics.

Setting the Framework for State Newborn Screening Systems

Guidance for newborn screening systems have been in place for 2 decades. These guidelines are inextricably linked to ethical, legal, and social considerations and based on the premise that screening should be conducted only when science and technology can serve both the individual and public good. Three landmark reports emphasize the criteria that should be used to justify population-based newborn screening systems, and include: the National Academy of Sciences' (NAS) Genetic Screening: Programs, Principles, and Research in 1975²⁰; the Institute of Medicine (IOM) report, Assessing Genetic Risks: Implications for Health and Social Policy in 1994²⁸; and Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing, in 1997.²⁹

The NAS Report The 1975 NAS report set forth rigorous guidelines about the criteria for newborn screening including: evidence of substantial public benefit and acceptance (including acceptance by health care professionals); previous feasibility study; satisfactory test methods; appropriate laboratory facilities and quality control; resources for counseling, treatment, and follow-up; acceptable costs; effective education; informed consent; and the means to evaluate the effectiveness and success of each step. The National Research Council raised concerns about what it saw as the potential risks of inappropriate newborn screening. The NAS report was critical of how PKU screening had developed and suggested the establishment of patient advisory committees made up of individuals with medical and nonmedical expertise.²⁰

The IOM Report The 1994 IOM Committee on Assessing Genetic Risks recommended that:

"Newborn screening only take place 1) for conditions for which there are indications of clear benefit to the newborn, 2) when a system is in place for confirmatory diagnosis, and 3) when treatment and follow-up are available for affected newborns...

The Committee believes that mandatory offering of established tests (eg, PKU, congenital hypothyroidism) that lead to the diagnosis of a treatable condition, is appropriate. If there is no other way to ensure that affected newborns will be identified and have access to effective treatment (eg, in PKU, congenital hypothyroidism), then mandatory newborn screening is acceptable...

Mandatory newborn screening should only be undertaken if there is strong evidence of benefit to the newborn from effective treatment at the earliest possible age (eg, PKU and congenital hypothyroidism)."²⁸

The Final Report of the Task Force on Genetic Testing The 1997 report entitled Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing pointed out that newborn screening should be of primary benefit to the infant identified. Like the IOM report, the Task Force on Genetic Testing report stated that it would be inappropriate to use traditional newborn screening solely to determine the carrier status of the infant. Moreover, the test should have analytical and clinical validity and utility. Interventions to improve the outcomes for an infant must be safe and effective.

New Challenges Facing Today's State Newborn Screening Systems

As a population-based public health activity, newborn screening systems are housed in state public health agencies. They operate under policies determined at the state level, and ideally, within the framework of the public health core functions of assessment, assurance, and policy development. States vary in public health infrastructure, newborn screening policy establishment, laboratory capacity, screening techniques, as well as in the laws that define the scope of services mandated in response to the identification of a condition. State newborn screening systems also vary in available system components, and in financing mechanisms to pay for these components.

Notably, the array of screening tests performed by each state varies and changes periodically. All state programs now include screening tests for PKU and congenital hypothyroidism. More than 40 programs screen for sickle cell disease and 48 screen for galactosemia. Some newborn screening systems include tests for congenital adrenal hyperplasia, homocystinuria, maple syrup urine disease, and biotinidase deficiency^6,30 (see Fig 1 and Table 1 

[View Larger Version of this Image (56K GIF file)]

). A few states also include screening tests for cystic fibrosis, tyrosinemia, additional metabolic conditions, and/or other conditions such as congenital infections (ie, HIV). Over half of the states now require all newborns be screened for hearing loss.^31-33

View larger version (38K): [in this window] [in a new window]   Fig. 1.   Conditions included in state newborn screening programs, 2000.

The mechanism for deciding which screening tests to include as part of a population-based newborn screening system varies among programs. Thus, the disorders screened for vary from state to state.^6,18,35-37 These inconsistencies reflect differences in community values, in state political and economic environments, and in public health technical capabilities. Inequities regarding the selection of disorders for newborn screening panels are illustrated by sickle cell disease, a condition for which neonatal screening markedly reduces morbidity and mortality during early childhood. Nationally, sickle cell disease is the most prevalent condition included in newborn screening programs; however, disease prevalence within states varies more than 50-fold because of the widely differing ethnic populations of states. Currently, 41 states and the District of Columbia conduct universal screening for sickle cell disease. Three states conduct screening in infants of high-risk ethnic groups, and 6 states conduct no routine screening. These 9 states are among those with the lowest prevalence of sickle cell disease. Concerns about prevalence, cost-effectiveness, as well as concerns about the acceptability of screening to health professionals and the general public, have hindered implementation of this test despite an NIH-consensus conference recommendation for universal screening.^3,38-41 In some cases, misperceptions about the benefits of screening, misperceptions about the prevalence of the disease in various ethnic groups, and/or the lack of effective advocacy for the disease have also contributed.^42-45 Thus, while an African-American infant born in a state that does not universally screen for sickle cell disease has the same risk for sickle cell disease as an African-American infant born in a state with universal screening for sickle cell disease, the infant born in the non-screening state is denied the important benefit of screening. In this regard, it is interesting to note that the relatively low prevalence of sickle cell disease in each of the 9 states without universal screening for the disorder (estimated to be >1:40 000) is still higher than the prevalence of galactosemia (estimated to be about 1:60 000-80 000), a disorder included in the screening panels of all 9 states.^30,46-48 This situation highlights the need for a more uniform national policy for the selection of newborn screening tests.⁴⁹

Because advances in science and technology are continually making it possible to screen for additional conditions, the decision about which tests to include in a newborn screening panel are complex.^50-54 Moreover, in an era of accountability, decision-making is hampered by the lack of studies of and data about test validity and health outcomes. With existing variations between state newborn screening systems, a national model of the structure and function of newborn screening systems has not yet been embraced. Furthermore, there are no uniform guidelines for the periodic assessment of conditions for which screening is performed.^7,9 As a result, infants across the country do not have equal access to newborn screening and its potential to prevent morbidity and mortality. The US Surgeon General, Dr David Satcher, has emphasized the need for the nation to address unequal access to health care, and the health disparities created by these inequalities. National standards are needed to promote greater comparability of newborn screening programs and address such inequities.⁵⁵

The work of David Hall and his colleagues in the United Kingdom provides useful guidance about creating equitable, sustainable, and effective newborn screening programs.^56,57 Speaking in Washington, DC, on May 10, 1999, Dr Hall reminded the Task Force of the responsibility to do more than provide screening tests, saying: "If it is important enough to screen for, it is important enough to follow-up." He also spoke on the issues of quality assurance and adequate funding for newborn screening systems stating, "The balance is fine between good and harm in screening. Unless a screening program is a good one, it can do more harm than good."

In the United States, technological advances have had, and will continue to have a significant impact on the sensitivity, specificity, and scope of newborn screening. Pressure is mounting to deploy new diagnostic capabilities despite possessing limited knowledge of their risk and benefit, or their analytical or clinical validity and utility. Presently, tandem mass spectrometry offers, and shortly, DNA-based technology will offer the possibility of using one test or simpler tests to detect a larger group of genetic conditions.^58-61 Furthermore, as the Human Genome Project is completed, the impetus and opportunity to translate genetic knowledge and technology into public health practice will increase.⁶² With these new technologies comes the ability to detect individuals affected by genetic conditions for which there is no clear advantage to early testing, no early or effective treatment, or no available treatment.⁶³ How should we best use these emerging diagnostic capabilities in our newborn screening systems and, more generally, in improving the health outcomes of our children?

An updated, consistent national agenda is needed to ensure that state-based newborn screening systems understand and keep pace with new technology. State policymakers and program managers cannot be expected to make optimal decisions in isolation. The process of setting a national agenda for state newborn screening systems requires the involvement of experts in science, medicine, public health, law and ethics, as well as the public and government officials from the federal, state, and local level. The process for these deliberations must take into account public concerns about privacy, confidentiality and discrimination, recent changes in the public health and health care delivery systems, the impact of new advances in science and technology, and the potential cost-effectiveness of revised policies and programs. Such a national agenda can serve as a guide for states seeking to strengthen their newborn screening systems, and provide more equitable access to this public health preventive program for our neonates.

The Task Force on Newborn Screening

To address these and other issues, a national Task Force on Newborn Screening was convened by the AAP, with funding from and at the request of the MCHB, HRSA, and the US Department of Health and Human Services (HHS). Co-sponsors of this effort were: other HHS agencies, the National Institutes of Health (NIH), the CDC, and the Agency for Healthcare Research and Quality (AHRQ); the Genetic Alliance, a consortium of consumer groups; and national public health organizations including the Association of State and Territorial Health Officials, the Association of Maternal and Child Health Programs, and the Association of Public Health Laboratories (APHL).

The AAP was asked to convene the Task Force in recognition that pediatricians and other primary care health professionals must take a lead in partnering with public health organizations to examine the many issues that have arisen around the state newborn screening programs. To ensure that children who are screened are linked to a medical home, it was essential that pediatricians and other primary care health professionals be involved. The AAP defines the medical home as care that is accessible, family-centered, continuous, comprehensive, coordinated, compassionate, and culturally competent. A child who has a medical home, has a pediatrician or other primary care health professional who is working in partnership with the child's family to ensure that all medical, nonmedical, psychosocial, and educational needs of the child and family are met in the local community.⁶⁴

Task Force members were appointed to represent many perspectives and interests among those who operate programs, conduct research, and are affected by newborn screening (See credits page). This report has been approved by the AAP Board of Directors. It does not necessarily reflect the sponsoring organizations' viewpoints, nor do the sponsoring organizations that provided support for the Task Force necessarily endorse all of the recommendations of the Task Force.

The purpose of the Task Force was to review issues and challenges for these newborn screening programs. The review process was structured to further expand representation. Task Force members were divided into 5 work groups, and additional individuals were invited to participate in each work group's examination of key issues. The work groups were:

• Newborn Screening and Its Role in Public Health,
• Medical Home and Systems of Care,
• Economics of Screening,
• Ethical, Legal, and Social Issues, and
• Implementation and Assessment Issues.

Over the course of 6 months, questions, concerns, and issues were collected from state public health agencies, state public health laboratory directors, MCH programs, pediatricians and other health professionals, families and other consumers, bioethicists, scientists, and health services researchers. Each work group formulated conclusions and developed consensus recommendations. On May 10-11, 1999, the Task Force heard presentations from the 5 work groups, along with public comment on the reports and recommendations. A set of recommendations was developed incorporating key elements of the work group reports, issues raised by the public, and other related information.

Principles and Underlying Assumptions Used to Develop the Task Force Recommendations Through the past 37 years of experience with newborn screening in the United States and around the world, certain underlying principles and criteria have become widely accepted. The Task Force recommendations are based on the following principles and underlying assumptions.

• Infants should benefit from and be protected by newborn screening systems.
• Not all conditions are good candidates for newborn screening. The criteria for inclusion of a screening test are: a) the condition is an important health problem that occurs frequently enough to justify screening an entire population; b) the treatment for the condition is effective when initiated early, accepted among health care professionals, and available to all screened newborns; and c) the test is simple, safe, precise, validated, and acceptable.
• Newborn screening is more than testingit should always be part of a system that includes screening tests, follow-up, diagnosis, treatment, and evaluation as necessary. The primary objective of each state's newborn screening system should be to ensure that every newborn receives appropriate and timely services.
• Newborn screening is an essential public health prevention activity that requires integration of parent education, sample collection, laboratory analysis, primary and specialty medical care, and related services for families with affected children.
• State public health agencies should assume responsibility for assessment, assurance, and policy development in the context of newborn screening, giving particular attention to the adequacy of system structures, oversight, and funding.
• The complete newborn screening system (testing, follow-up, diagnostic procedures, treatment, and evaluation) should be clinically, socially, and ethically acceptable to the public and health professionals.
• Infants should have a "medical home" (identified by parents before or after birth) that is linked to a newborn screening system and includes access to appropriate care and treatment, if a condition is diagnosed.
• Infants born anywhere in the United States should have access to screening tests and procedures that meet accepted national standards and guidelines. New screening tests should meet national criteria for newborn screening, with data on the validity of new tests and the clinical utility of screening new diseases collected through pilot programs.
• Before newborn screening, parents (on behalf of their children) have a right to be informed about screening, and have the right to refuse screening. They also have a right to confidentiality and privacy protections for information contained in all newborn screening results.
• Increased coordination and uniformity, among state newborn screening systems and other child health programs, will greatly benefit families, health care professionals, and public health agencies.
• Parents and consumers must be involved in all parts of the policy-making and implementation process.

Screening and Counseling for Genetic Conditions in 1983 The President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research made recommendations entitled "Screening and Counseling for Genetic Conditions" in 1983.¹⁶ Many of these earlier recommendations have striking resonance today, despite the advances in science, technology, and medical care. The following findings (excerpted from that report) illustrate the continuity between earlier consideration of ethical issues in screening, and the work of the Task Force on Newborn Screening. The Commission found that:

• The parties involved, including regulators, funding agency administrators, industry representatives, researchers, and public health officials, should meet to discuss their respective roles in ensuring that a prospective test is studied adequately before screening programs are introduced.
• Successful programs require concrete goals and specific procedural guidelines that are founded on sound ethical and public policy principles.
• If ethical and policy goals are to be promoted, every screening program should have an evaluation component.
• Oversight bodies can provide an important focus for the successful provision of services.
• Public screening programs should not be implemented until they have first demonstrated their value in well-conducted pilot studies.
• Cost-benefit analysis must be regarded as a technical instrument to be used within an ethical framework, rather than as a method of avoiding difficult ethical judgments.

Task Force Assumptions Regarding the Future of Newborn Screening The value of a blueprint depends in large part on how well the architects understand the setting. Although many unforeseeable events may change the landscape, an assessment of the environment is essential. The Task Force anticipates that the following trends will affect the future of newborn screening over the next 5 to 10 years.

• The newborn screening system affects many people and institutions, which in turn creates potential for problems related to conflicts and gaps in follow-up and services. With changes in the health care delivery system, financing, medical practice, and public health agency structures, such problems are likely to increase.
• The dramatic advances in genetic science are changing the environment for newborn screening. As the Human Genome Project is completed, the expansion of genetic knowledge and technology into public health will continue, presenting opportunities for understanding and promoting better health, lowering mortality and morbidity, and preventing diseases. As the Human Genome Project reaches fruition, medical genetics and the number of genetic risk factors for diseases that can be detected will grow rapidly. New DNA-based testing technology will be one outgrowth of applied research.
• Technological advances have had and will continue to have a significant impact on the sensitivity, specificity, and scope of newborn screening. Tandem mass spectrometry offers the possibility of detecting a larger group of metabolic conditions. With this new technology comes the ability to detect individuals with metabolic conditions for which there are no effective treatments at this time.
• With recent and future technological advances, newborn screening can also be used for more than testing for hematologic, endocrine, metabolic, and other genetic conditions. For example, newborn hearing screening is a widespread newborn screening procedure in the United States that currently does not use a blood sample or DNA-based testing technology (although hearing loss may be genetic in origin and blood samples may be used for DNA confirmation in the future). The future will bring more opportunities for early screening and systems integration.
• States will continue to be the policy innovators and primary regulators for health care, including insurance, public health, patient rights, and professional and facility licensure.
• Partnerships and collaborations between medicine and public health will be expanded and better developed. For newborn screening, immunization, and other services that operate at the intersection of clinical medicine and public health, effective collaboration is essential to achieving positive outcomes.
• Newborn screening will operate in a health care marketplace that depends on public-private ventures. State agencies will further expand private sector purchases and contracts for health-related services.
• The demand for consumer protections in health care will continue to be high; including demands for privacy and confidentiality protections of medical records and health information. These demands, along with parental opinions, will influence the future of newborn screening.
• Public perception of genetics in medicine and technology will lag behind scientific advances. Even among the better-educated general public, the perception of risks and benefits may differ from the views of health care professionals.
• Policymakers will continue to respond to concerns about the health of children and show some willingness to make investments in child health protections and prevention tools such as screening.
• Broader child health issues will continue to influence newborn screening systems; as newborn screening is only one part of child health surveillance, and infants with identified conditions are only one set of CSHCN.
• Health care cost containment pressures will continue to have substantial influence in health policy. If premiums for health coverage continue to rise, purchasers (eg, employers and government) and policymakers will take action. The response may lead to reduced coverage for new tests and treatments, greater inequities based on income level, and/or greater numbers of uninsured individuals and families. The result will be continued reduction in the quality of care.
• Health professionals will require ongoing training and education in newborn screening and new technologies. Additionally, pediatricians and other primary care health professionals who care for children should receive training on their role as the source of a child's medical home.

Advancing a National Agenda for Newborn Screening

The CORN guidelines^7,9 and recommendations from previous expert panels and task forces form a foundation for advancing newborn screening. Despite some areas of disagreement (particularly on the topic of informed consent and parental permission), these documents together outline similar principles for conducting newborn screening (eg, the condition is serious, early screening would benefit infants, a reliable test is available, treatment is available, and early diagnosis and treatment are important to the infant). However, even when there is consensus, some state newborn screening systems have not applied these recommended standards and guidelines when setting policy and program structures.

In recommending model regulations and national standards, the Task Force recognizes that the translation of any models would have to conform to a state's particular infrastructure and infrastructure needs. The Task Force believes that public health agencies (federal and state), in partnership with health professionals and consumers, should continue a process that will:

• Better define public health responsibilities for federal and state public health agencies;
• Develop and disseminate model state regulations to guide implementation of state newborn screening systems (including disease and test selection criteria);
• Develop and evaluate innovative testing technologies;
• Design and apply minimum standards for newborn screening activities (eg, sample collection, laboratory quality, sample storage, and information systems);
• Develop and disseminate model follow-up, diagnosis and treatment guidelines, and protocols for health professionals and other participants in the newborn screening system;
• Design and evaluate model systems of care with services and supports from infancy to adulthood that are consistent with national guidelines for CSHCN (ie, family-centered, community-based, and coordinated systems of care);
• Design and evaluate tools and strategies to inform families and the general public more effectively; and
• Fund demonstration projects to evaluate technology, quality assurance, and health outcomes.

The Task Force has made further recommendations to address specific concerns and has identified needs for program and policy development in 4 key areas: Public Health Infrastructure; Professional and Consumer Involvement; Surveillance and Research; and The Economics of Screening. (Each topic is discussed extensively in later sections of this report.)

By outlining these recommendations, the Task Force seeks to further advance consensus. The Task Force recommendations call for change in many facets of state-based newborn screening systems. This work is intended to inform policy decision-makers about the possible strategies for enhancing newborn screening systems. The Secretary's Advisory Committee on Genetic Testing (SACGT) is expected to develop recommendations for the US Secretary of HHS regarding the oversight of genetic tests with respect to the accuracy, meaningfulness, and appropriate use. Newborn screening is among the issues the SACGT is addressing. Infant hearing screening, and other types of newborn screening, deserve similar attention from the federal and state policy communities. State legislators and executives face the challenge of deciding what tests, what testing technology, and what resources to use in protecting their pediatric populations.

Parents have served as advocates to advance newborn screening policy since the 1960s, and this continues to be an important role for them. Also, pediatricians and other primary care health professionals who care for children must participate in the development of guidelines for practice and policy. Joint leadership from government, health professionals, and parents will be essential if a nationwide approach to newborn screening is to be designed for the future, and if changes are to be implemented in each state.

Success of Newborn Screening

Newborn screening has been one of the nation's most impressive recent public health achievements and one of the most reliable components of child health services. The Task Force reaffirms that our nation's programs for newborn screening have improved the health and well-being of our children. The Task Force recommendations for newborn screening call for changes in many facets of these state-based systems, because the achievements of the past are not sufficient to carry newborn screening systems into the 21st century. Much has changed since most newborn screening systems were designed 30 to 40 years ago. Success in the future will depend on the adequacy of our response to new genetic science, advances in knowledge about infant development, evolving biomedical technology, and changes in health care delivery and financing. Strengthening the newborn screening systems, as laid out in this blueprint, will require attention to the need for an improved public health infrastructure, the gaps in public and professional involvement, the challenging research agenda, and adequate financing. The intellectual and fiscal resources needed to achieve continued success are within our means and can be dedicated to the tasks ahead if there is political will to do so. Leadership from government, health professionals, and parents will be equally important to craft a national agenda for newborn screening and to implement changes in each state. Newborn screening can lead to early identification and treatment of about a dozen conditions today and perhaps scores of conditions by the year 2010. Well-functioning newborn screening systems are important to the 4 million US children born each year, and deserve the nation's attention.

	II. PUBLIC HEALTH INFRASTRUCTURE

Newborn screening systems must be placed within an adequate public health infrastructure, since newborn screening involves more than testing. A screening test will be effective only if it is placed within an appropriate infrastructure that includes: education for the consumer and public, sample collection, laboratory tests, follow-up, diagnosis, appropriate treatment, information management, and system evaluation. The primary objective of each state's newborn screening system is to ensure that every newborn receives appropriate services. Public health agencies, at both the state and federal level, have a responsibility to ensure the quality of the newborn screening system. This section explores the history of newborn screening in public health agencies, the impact of new technologies in the evolution of screening programs, and the roles that can best be played by public health agencies in newborn screening systems.

The History of Newborn Screening as a Public Health Agency Role

Public Health Mission and Core Functions To define the role of public health in newborn screening, one must understand how the level of scientific and technical knowledge, as well as public values, has changed over the past 37 years.

• Policy developmentthe responsibility to serve the public interest by promoting use of scientific knowledge in decision-making and policy development.
• Assurancethe responsibility to ensure that services are provided, either by encouraging action by other entities, requiring action through regulation, subsidizing services, or providing services directly.
• Assessmentthe regular and systematic collection and analysis of information on the health of the community.⁶⁵

Newborn Screening Becomes a Public Health Agency Role With the advent of tests for PKU and other metabolic conditions in the 1960s, the responsibility to implement newborn screening systems was assumed by state public health agencies.^12,17,18 Only public health agenciesusing their authority to protect the public's healthcould implement systems that would assess the prevalence of conditions, mandate newborn screening for all infants, ensure the quality and availability of testing, and provide follow-up on a population basis. Today, with new genetic technology and changing public opinions about the role of the government, the public health agencies' role in newborn screening systems is evolving.^66-69

Challenges Facing Today's Public Health Agencies

State health agencies of the 1990s are different from those of the 1970s.^65,70 They face the challenges of keeping up with new testing technology, responding to emerging infections and a resurgence of old diseases (ie, tuberculosis), coping with budget cutbacks or windfalls (eg, tobacco legislation funds), and operating in a new health care delivery system (eg, managed care arrangements, integrated health systems).^71-73 At the same time, state public health agencies remain charged with assessment, policy development, and assurance functions.

Challenges Related to Newborn Screening Some challenges most directly related to newborn screening include:

• Laboratory capacity is sometimes inadequate. The methods used by some health department laboratories are in need of enhancement. In addition, public health laboratories are often under competitive pressure from commercial laboratories.⁷⁴
• Budget constraints make it more difficult for health departments to cope with the current workload, let alone with new tests that require additional equipment and personnel.
• Benefits of some screening tests have not been appropriately validated.
• State public health agencies screen for different conditions. These differences are not always based on the prevalence of the disorders in the respective states, or proof of the tests' utility and validity.
• Funding is insufficient for newborn screening quality assurance and evaluation, particularly for laboratory and database information systems.
• State policymakers possess an incomplete understanding of the conditions for which newborn screening can be conducted, and/or of testing technology.
• Informing and educating consumers is often challenging, and meaningful public and consumer involvement is not always considered.
• Adequate funding is needed for comprehensive care by multidisciplinary teams in medical homes, including resources that ensure the availability of special formula, special foods, and other treatments for all affected children and adults.

Lack of Uniform Public Health Policy on Newborn Screening Since newborn screening began, all states and territories of the United States have included newborn screening as part of their preventive public health system.^75,76 Considerable variability exists in: the systems available for follow-up, the genetic conditions included as part of the screening system, the laboratory capability within the state, the treatment protocols, and the scope of follow-up services mandated as part of the newborn screening system.^{6,7,18,27,38,77} This situation highlights the need for uniform national policy on the selection of newborn screening tests, as well as common guidelines for newborn screening systems. Without nationally observed standards, infants across the country do not have equitable access to newborn screening, and its potential benefits. State legislators, health commissioners, and newborn screening system managers benefit from nationally recognized standards and guidelines by having recognized and well-considered benchmarks for the development of their programs.

The Task Force's Response to These Challenges A continued role for state health departments in management, coordination, and evaluation of newborn screening programs is vital to sustaining and improving newborn screening systems. The Task Force concludes that a public health role is essential to continue newborn screening programs at their current levels. In facing current and future challenges, states and their public health agencies need to address the following questions:

• What steps are necessary to assist state policymakers in making decisions about tests and testing technology?
• How could a national, minimum set of newborn screening tests and standards be developed for use by states and their public health agencies?
• How can quality assurance and evaluation be better financed and utilized by public health agencies?
• How can public health agencies best carry out their quality assurance responsibilities in conjunction with private sector health care professionals, laboratories, and other entities?
• How could data and information efforts be improved to ensure the follow-up, tracking, and evaluation needs of newborn screening systems?
• What is the role of public health agencies in coordinating these efforts to ensure that they serve families in the most efficient and effective manner?
• How can public health agencies ensure that the pediatrician or primary care health professional who is the source of the child's medical home receives newborn screening results in a timely and efficient fashion, even when the results are negative?
• How can public health agencies play a more active role in long-term management and follow-up from infancy to adulthood?

Designing and Developing Newborn Screening Systems

Decisions Regarding Tests and Testing Technology In all states today, every infant is screened for 2 disorders: PKU and congenital hypothyroidism.^{6,7,9,18,30,48} Beyond these 2 tests, there is inconsistency between states in the panel of conditions screened. In addition, new advances in science and technology are continually making it possible to screen for additional conditions. The decision about which tests to include in a newborn screening panel is becoming increasingly complex. As a result, one role of the public health agency is to ensure that adequate data are available to decide whether a screening test should be included in the repertoire of routine tests.

• Demonstrated value to the affected patient and to the public through screening, detection, diagnosis, and treatment in a pilot program;
• A publicly accepted mechanism for funding the change which ensures that screening, follow-up, diagnosis, and treatment services will be available even if the family is unable to pay;
• Demonstrated cost utility, showing benefit in quality-adjusted years of life and reduced public health impact (prevalence × severity × effectiveness of intervention = public health impact);
• A mechanism for evaluating and ensuring quality throughout all elements of the screening system^80,81; and
• A system for educating all stakeholders as to the benefits of the program and its changes.

• Recommended for screening (a demonstrated benefit from early diagnosis exists that is balanced against financial and other costs, and for which suitable tests and follow-up services exist);
• Recommended if resources permit (a demonstrated benefit from early diagnosis exists that may not be balanced against financial and other costs depending on the available technology, the frequency of the disorder in the region, and other local circumstances);
• Pilot-screening recommended (benefit to the individual from early diagnosis appears likely, it is likely to be balanced against financial and other costs if suitable technology is available, there are tests available that are likely to be suitable, and there are follow-up services available);
• Screening tests are available but not currently recommended (proof of advantage from early diagnosis is absent or uncertain or the test is unsuitable or does not detect those cases in which there might be an advantage); and
• Conditions that may be detected incidental to screening for a recommended disorder (properly constituted research programs into the utility of screening for the disorder is encouraged).

Developing Adequate Follow-up Systems Deciding which screening tests to include is just one aspect of the newborn screening system. To attain the greatest possible benefits of newborn screening, careful follow-up and continuity of care must also be ensured.^7,9

Developing Newborn Screening Systems Through Education and Collaboration Another public health agency role is to increase awareness of newborn screening among health professionals, parents, and the public. The success of newborn screening systems depends on the knowledge and behaviors of these individuals. An improved understanding of newborn screening and genetic medicine, and the benefits of the newborn screening public health program are essential.

Quality Assurance and Evaluation

Ensuring the Quality of Newborn Screening Laboratories Laboratories performing testing, in the public interest, are generally driven by 2 principal factors: cost-efficiency and quality. Ideally, newborn screening testing is inexpensive, produces high-quality results, and is technically advanced. In reality, it is often difficult to balance all of these factors within the political and economic environment of a state and a public health program.^7,14,29 Therefore, it is incumbent on all programs to monitor laboratory performance and technological progress. It is thought that to maintain optimal quality, sufficient positive testing results should be encountered so that a positive test is easily recognized. There is no universally accepted standard in this regard, and high-quality laboratories exist with both low and high volumes of testing. In newborn screening, it has been recommended that the threshold number of samples should be 30 000 annually.⁷

Evaluation of the Newborn Screening System States play an active role in developing the structuring and financing mechanisms for quality assurance, accountability, and oversight of newborn screening systems. Although many state MCH programs, using their federal Title V Block Grant and state matching funds, play a key role in quality assurance for each of the first 4 components of the newborn screening system (screening, short-term follow-up, diagnosis, and treatment/management), the fifth component, evaluation will need to be addressed.

Ensuring the Quality of Private Sector Activities Related to Newborn Screening Private professionals and facilities carry out a number of newborn screening activities. These include specimen collection in hospitals, specimen transport by private courier, laboratory tests by private laboratories, follow-up by private contractors, diagnosis and treatment at private specialty centers, and research by private institutions.¹³ Where the state health agency has only indirect responsibility, it has legislative and regulatory powers to ensure newborn screening system quality.^18,19,53,104 This may come in the form of licensure requirements, reporting requirements, public health guidelines, contract specifications, and so forth. State public health agencies must develop collaborative approaches and linkages to private physicians, hospitals, laboratories, and others to ensure optimal coordination.

Integrating and Coordinating Related Programs

A Review of Related Programs Public health agencies and other government programs have multiple programs designed to serve infants in the first month (neonatal period) or first year of life.^105,106 The following programs are among those that logically could be connected to newborn heelstick screening programs. Each provides screening for other conditions, includes follow-up and tracking components, or is aimed at serving CSHCN.

  Programs screening infants for other health and developmental risks

Prenatal screening and follow-up. Screening tests done prenatally may require follow-up treatment of the newborn infant.^{102,103,107-109}

Newborn hearing screening. An increasing number of states are implementing universal newborn hearing screening, shifting from policies that had previously emphasized hearing screening only for those infants with recognized risk factors for hearing deficits.^{31-33,84,110-114}

Supplemental Nutrition Program for Women, Infants, and Children (WIC). Substantial proportions of pregnant women and newborn infants receive nutrition support through the WIC. (In some states and cities, from 50% to 75% of infants meet income eligibility guidelines for the WIC.) Screening for nutritional risk is a core function of the WIC programs, and some also screen for immunization status and/or development risk.¹¹⁵ Historically, WIC programs have supported formula for management of PKU (ie, Colorado).

Outreach, case management, and home visiting programs. Child health programs that seek to identify children with varying levels of social or medical risk may involve outreach, case management services, or home visiting. In some areas, public health nurses may seek to provide a home visit for a large proportion, or all, infants and families shortly after birth. Such services may be a continuation of support initiated for mothers in the prenatal period.^116-121

  Programs for infants with or at risk for special health care needs

High-risk infant follow-up programs. Many states provide programs through which children discharged from newborn intensive care units receive follow-up services and may be enrolled in special developmental follow-up clinics.^122-124

Early intervention programs. PL 99-457 and subsequent amendment in the Individuals With Disabilities Education Act led to creation of programs designed to identify and provide services for children birth to age 3 with, or at risk for, potentially disabling conditions. While states may choose among the categories of children to be served, screening for eligible children and development of an "Individualized Family Service Plan" for follow-up and treatment is required in every state. These very young CSHCN may be linked to both health care and related developmental and educational services.^125-127

State genetics services programs. Genetics programs may provide evaluation, diagnosis, long-term treatment, and case management for children with genetic disorders, including those identified by population-based heelstick newborn screening and birth defects registries.¹²⁸

  Registry and data programs that include infants

Vital registration. Birth certificates are increasingly filed electronically. These electronically filed certificates may serve as the foundation for an electronic health record, including newborn screening status, and might be populated from newborn screening contacts.

Immunization registries. Infant immunization services may begin in the newborn nursery and continue throughout life. With substantial federal support and the involvement of private foundation and corporate resources, states are developing computerized immunization registries, using electronically filed birth certificates as the basis for initiating entry into the registry.¹²⁹

Birth defects registries. Increasingly states use birth defects registries to identify children with congenital abnormalities that require treatment and follow-up, to study the causes of these conditions, and to plan for services.¹³⁰

Challenges Involved in Coordinating Programs and Information Systems

Publicly funded infant and child health programs often operate independently of one another. The resulting duplication of effort can increase costs, burden families and health professionals, and create redundancy in data management systems. Improved coordination and integration of information systems is needed.^131,132

State agencies attempting to coordinate infant or other public health programs face a variety of challenges. These programs serving infants each operate with potentially varying time frames (ie, filing electronic birth certificates may take 2 to 3 weeks, but data for newborn heelstick screening needs to be entered within days of birth), definitions of eligibility (ie, universal heelstick screening versus means-defined WIC eligibility), demands and constraints imposed by categorical funding agencies, and priorities. In addition, they may be administered by different agencies within state governments.

As a result, services may not be well-integrated or coordinated. This can lead to the inefficient use of resources and frustration among families who are frequently asked to provide the same information on multiple forms of varying formats or categories. Information systems that support these programs may be insufficient, redundant, or independent of one another. Program integration and coordination cannot be achieved without a substantial new investment in infrastructure, and without addressing complex policy issues such as the confidentiality of health information.⁹⁰

Ironically, one of the unintended effects of this lack of coordination and/or communication among programs and data systems may be a form of greater confidentiality protection; the current system does not allow easy aggregation of personal information. This scenario leads to the following questions: 1) What is the optimal framework for integrating or coordinating public health systems for newborn assessment and follow-up? and 2) What is the role of information systems as part of efforts to improve program coordination? Technically, it is now feasible to link data systems; however, ensuring the proper use of data and adequate privacy protections may be difficult. Parents, health professionals, program managers, and public health officials may each have different goals and perspectives.^132,133 Thus, in considering whether to integrate programs and their informations systems, and how to go about this, it is essential to take into account the benefits, as well as the liabilities and costs to each group.

The value of efforts to link, coordinate, and integrate programs should be measured against the following criteria:

• Is duplication of effort reduced?
• Is the knowledge of resources and services improved?
• Is access to resources and services improved?
• Is the quality of services for children and families improved?
• Can appropriate privacy and confidentiality protections be ensured?
• Is the work of service and health care professionals facilitated?
• Is program management improved?
• Can improvements in public health be documented?
• Is there an improvement in child health?

Family perspective. Priorities from the perspective of families are likely to include:

Access to relevant information about the child. Parents and families are not apt to be concerned about the architecture of information systems. However, they are interested in having the information they need to make informed decisions in the interest of their child's health.^134,135 They also desire timely access to various forms required for documentation of need or service, such as documentation of immunizations for school enrollment. In some instances, parents may have to balance their conflicting desires for easy access to services and protection of privacy (ie, a registry that gives ready access to immunization records requires that parents give permission to store the record).

Services ensured with continuity. A family's primary concern is that access to services is ensured, and that the array of services that children require be provided as seamlessly as possible, with minimal effort required in negotiating the system of care. A family also needs to know what services are available as they make choices for their child.

Privacy protection. The protection of privacy is often a paramount concern among families. Some may object entirely to their child being included in a government-sponsored registry.

Health care professional's perspective. As advocates for their patients, health care professionals will share many of the same interests as their patients and the patients' families. Health care professionals also are likely to have these additional interests^136,137:

Timely and ready access to accurate information about their patients. The health care professional wants the relevant screening information about that child readily available. For some professionals, or their staff, whether data are available through electronic systems may be less important than simply being ensured that the information can be obtained. For others, access to electronic child health records would facilitate their work. To the extent that computerized and other electronic systems are being developed as sources for program information, the health care professional (or staff) would prefer to tap into a single system to obtain data from different programs, rather than having to check multiple data systems to obtain information. For example, information from a single point of contact would ideally include: immunization status, and the results of hearing screening and heelstick screening. Easy access to equivocal, positive, or negative results of newborn screening is desirable, but is only one type of information a medical home may need.

Avoiding missed opportunities for follow-up at multiple points of contact with the child. Many children receive services at multiple locations or facilities. Ideally, information would be available to each health care professional, as necessary. Moreover, each professional should be aware of the need for follow-up on newborn screening and other conditions, regardless of the purpose of a particular visit. For example, if one of your colleague's patients is being seen in your office, you should have the ability to identify that the child needs a repeat PKU screening test, or that the child has failed their first hearing screen. This will allow the health care professional to take advantage of the opportunity for follow-up.

Minimizing duplication. Health care professionals and their staff, including hospital staff, are often frustrated by having to complete multiple forms requesting the same or similar information.

Minimizing liability. Health care professionals may be concerned about their liability if a registry exists. What is their responsibility and liability for checking a database to determine if a child needs a particular service? What is their responsibility and liability for updating a registry after a patient encounter? How timely should those updates be?

Compatibility with existing systems. Many health care professionals have installed computerized office management software. Incompatibility between office and registry software could lead to extra time and costs.

System perspective. The "system" refers to the agencies or organizations that have the following responsibilities: the health of populations living within certain geographic boundaries, the health of those who receive care at a particular facility, and/or the health of those who are enrolled or covered by various insurance programs.¹³⁸ For agencies or organizations with these broad responsibilities, the ideal would include:

Capacity to monitor system performance. This includes the ability to monitor screening coverage, follow-up rates, and health outcomes affected by screening and care programs. It would also include the capacity to provide feedback to individuals or facilities responsible for managing or providing services at each stage in the screening and care cascade. This would enable identification of strengths and weaknesses in the programs to improve overall system performance.

Promotion of collaboration across agencies and organizations. Screening programs encompass a mix of public and private providers; from hospitals where screening tests are performed, to laboratories, to clinics that provide follow-up services. The information system that accompanies a screening program should foster communication and collaboration across the agencies and organizations from family to follow-up program.

Public health monitoring. Public health agencies have a responsibility to track trends in the occurrence and pattern of diseases in the populations they serve. The information system should allow monitoring of the prevalence of disease and the definition of the impact of the screening program on morbidity. It should also allow identification of disease in children not identified by screening (ie, "missed" cases), as well as trends in false-positive results.

Optimal use of resources. Multiple entry of the same or similar information into data systems for different programs represents a duplication of effort and thus extra cost.

Health services research. Monitoring the performance of the overall screening program may yield generalizable information that can be used not only locally but also by others to improve programs.

Data access and confidentiality. Public health agencies have a legal mandate to collect information about programs that they support and diseases that are under their jurisdiction. This requires appropriate access to health information. It may or may not require access to information with personal identifiers. When personal identifiers are stored with health information, it is essential that security measures and confidentiality policies, which protect against unauthorized access and violations of privacy, be in place.

Barriers to Program Integration There are a variety of challenges to improve the integration of data systems that support different programs. These challenges include state variations, program-specific systems, costs, independence of heelstick screening programs, and public concerns about government data systems. A number of these issues are being addressed as states implement immunization registries. Topics being addressed in developing these registries include development of policies that define politically permissible levels of integration with other programs as well as responsibilities and liabilities for using and updating registries by health professionals and others.

Response of the Task Force The Task Force supports efforts to improve the integration and coordination of public programs that serve infants. The current approach to newborn programs has inherent costs arising from duplication of information collection and fragmentation of activities. Efforts to make programs more cohesive have associated costs as well. Given these costs, initial efforts toward improving integration and coordination should focus on a core group of activities and build, to the extent possible, on existing and successful state models. Although states may be the location for pilot efforts, national leadership and support can assist in development of new models for program integration. Two strategies are sound first steps toward improved coordination and integration:

  Assess status of state newborn screening systems

Information is needed on the status of state newborn screening systems. Within heelstick screening programs, information is needed on the capacity to manage and integrate information at each stage of the system. More broadly, information is needed on the relationships among newborn programs, particularly the relationship between screening programs and immunization registries. Substantial effort toward development of information systems is being made in a number of states, including activities funded by the CDC through the development of immunization registries. In October 1998, the directors of the CDC, HRSA, and HCFA sent a letter to state health and Medicaid directors in support of states' sharing of information across programs, and states' use of categorical funds to enable infrastructure development. To support the improvement of newborn screening systems, it would be useful to know how, whether, and to what extent these programs are involved in activities that are supporting infrastructure development and information-sharing.

  Support program integration models

Grants from the HRSA could facilitate and foster the involvement of newborn screening systems in infrastructure development activities in states. Flexible grants would permit states to take advantage of individual strengths and assets. Such grants should encourage states to consider integration of heelstick screening programs with a core set of other newborn programs, including birth registration, immunization, newborn hearing screening, and possibly the WIC program. Because these various activities are supported by different federal agencies, it would be important for the HRSA to collaborate with these other federal agencies such as the CDC and HCFA in developing the grant program.

Task Force Recommendations for Public Health Infrastructure Development

National leadership and federal support are critical to strengthening the public health infrastructure. Flexible funding to support experimentation with activities such as program integration is needed. States with the best practices may lead the way, but a national process to share and promote such practices can facilitate these innovative efforts.

• Federal agencies must take action to strengthen the public health infrastructure for newborn screening.
  - The federal governmentacting through the HRSA, CDC, HCFA, AHRQ, NIH, and other agenciesshould collaborate to provide ongoing leadership and support for development of newborn screening standards, guidelines, and policies. - As the federal unit with most responsibility for newborn screening system development, the HRSA should engage in a national process involving government, professionals, and consumers to advance the recommendations of this Task Force and assist in the development and implementation of nationally-recognized newborn screening system standards and policies. - Federal resources should be identified to sustain a NSQAP to assist state public health laboratories. Such assistance must be both sustained and expanded as states adopt new screening technologies and modalities. - The HRSA's MCHB should strengthen current mechanisms to improve coordination of infant health programs and initiatives within the state and/or between states, including continuation of funding in support of newborn screening program reviews.

• State public health agencies should direct their newborn screening program to be consistent with professional guidelines and recommendations. Each state public health agency should take responsibility for systems development. Specifically, states and their agencies have responsibility to: - Design and coordinate the newborn screening system; - Adhere to nationally recognized recommendations and standards for the validity and utility of tests. State newborn screening systems have a responsibility to review the appropriateness of existing tests, tests for additional conditions, and new screening technology and modalities; and - Adopt standards for laboratories, health professionals, and health care financing plans based on nationally recognized standards and guidelines for follow-up, diagnosis, and treatment.

• State public health agencies, working under legislative authority, have t