- FROM BIOETHICS BRIEFINGS
Framing the Issue
State newborn screening programs test nearly all infants born in the United States for selected inherited and congenital conditions that may cause disability or death. Screening is mandatory in nearly all states (although most will reluctantly allow parental refusals on religious and other grounds). In addition to screening, the programs provide education, follow-up to definitive diagnosis, and long-term treatment and management, or link affected infants and parents to these services.
The programs began in the 1960s after a simple blood test was developed for a genetic metabolic disorder called phenylketonuria (PKU). If infants with PKU are identified soon after birth and immediately put on a special diet, they can be protected from permanent mental retardation and other health problems. States began screening newborns for PKU and, over time, added other disorders in response to advocacy by parents of affected children, health professionals, and organizations concerned with child health. As individual state programs evolved, they came to vary considerably from each other in the conditions screened for, the services provided, and the modes of financing.
During the first decade of this century, a dramatic expansion of state newborn screening took place. The expansion was a response to new medical knowledge, new testing technologies, and political pressure by advocacy groups; however, its form and timing were heavily influenced by the work of a federally funded expert group convened by the American College of Medical Genetics. The group’s charge was to develop a uniform test panel that could be adopted by all states. Before the work began, the majority of states screened for fewer than 10 conditions. The ACMG group’s report recommended screening for 29 core conditions and another 25 conditions that could be detected incidentally in screening for the core group. By May 2008, most states had started screening for all or nearly all of the core conditions.
The expansion was accompanied by ethical debates related to cost, evidence, and parental consent. Supporters believed that the expanded screening was important for children’s health, but critics charged that the ACMG group made its recommendations without a solid evidence base or adequate consideration of competing demands on public resources. Critics also objected to the group’s movement away from newborn screening’s traditional reliance on significant benefit to the newborn from very early diagnosis and treatment as the criterion for adding a condition to a state screening panel. They argued that when this criterion is not met, there is no justification for omitting parental informed consent, and no obvious reason to give screening and treatment for a condition priority over other ethically important health care not readily available to all children, such as diagnosis and treatment of asthma or juvenile diabetes.
The Ethical Controversies
The issues of cost, evidence, and parental consent that arose in debates about the ethics of program expansion remain central to newborn screening policy today.
Cost. Concern about cost is often seen as opposed to ethics in debates about newborn screening policy. Many advocates say that it is wrong to consider cost at all when infants’ lives are at stake. In contrast, ethicists say that it is wrong to ignore cost. Cost is an ethical issue because newborn screening uses collective resources (public and private) to pay for the screening, as well as the follow-up and treatment. Although screening newborns may be desirable, there are always other uses for resources that would also save lives and prevent disability—there is an opportunity cost to their use. Policymakers thus have an ethical obligation of stewardship to weigh the benefits against the costs when directing resources to newborn screening.
In stewardship, the total net benefit from screening isn’t the only consideration; the fairness of the distribution of benefits and costs also matters. On the benefit side, fairness often comes up in discussions of state differences in test panels. To many people, it seems unfair that for an infant with a genetic disorder, being born in one state rather than another can be a matter of life or death. A major goal of the ACMG group was to make access to screening less variable from state to state. The variation in the quantity and quality of follow-up services received by affected children and their families is also a fairness issue. On the cost side, it is important to recognize that cost isn’t just the screening test but the entire cost of the program. Also, there are time and anxiety costs to families of newborns with “false positive” tests (infants who test positive but are shown by follow-up testing to be healthy). Currently, most people involved in newborn screening would agree that the distribution of these costs is arbitrary and does not conform to any reasonable standard of fairness. It imposes excessive burdens on some families and fails to distribute the total cost of the system equitably across the entire nation.
Evidence. Evidence is also an ethical issue. One cannot assess the opportunity cost of resources and the distributional fairness associated with a policy decision without detailed information about the decision’s positive and negative effects. Some advocates are uncomfortable with calls for evidence-based newborn screening policy, however. They argue that it sets too high a bar, given that conditions considered for screening are relatively rare and, in the absence of screening, may be underdiagnosed.
Since gathering evidence itself uses resources, everyone understands that policy must often be made without complete information. The debate is about how much information is enough. Strong advocates for screening are likely to say that screening should go ahead without any hard evidence if there is some hope of benefit. Others argue that ethics requires a cost-conscious, systematic effort before the introduction of a mandatory new test to gather and evaluate evidence on the consequences of the decision. There is less controversy over what should happen after testing is introduced: most consider cost-conscious, systematic collection and evaluation of evidence on the effects of newborn screening to be an essential part of the ongoing management of these public programs.
Parental consent. The United States has societal values that respect the rights of individuals to decide what treatments they will have, whether they will participate in research, and what can be done with their personal information and their bodily tissues, including blood samples. A newborn screening sample is collected as spots of blood on a special card. After the laboratory punches small samples from the cards for the initial screens, the cards are stored for a period of time that varies across states from as few as three months to indefinitely. Stored samples are used for the additional testing that some infants may require, newborn screening program quality assurance and improvement, research related to newborn screening, and for other health-related research.
Since parents typically make decisions on behalf of their children, parental informed consent is ethically required for the medical treatment of children and for the involvement of children in research. Because parental consent is the ethical standard, the mandatory status of public newborn screening has always been controversial. Mandatory screening for PKU was originally sought on the grounds that the urgent need for early diagnosis and the great benefit of the treatment justified omitting parental informed consent. This criterion guided newborn screening programs for many years (although some ethicists maintained that states should obtain parental consent even in these circumstances). The ACMG report argued that it was appropriate to depart from this criterion and consider benefits to the family or society, rather than to the infant. For example, early diagnosis of an untreatable genetic condition may allow parents to plan for the time when the child’s symptoms appear and perhaps to alter their reproductive decisions to avoid the birth of another affected child. Early identification of affected children can also benefit research on the condition by providing potential human research subjects and residual blood samples. When the traditional criterion is modified in these ways, however, parental informed consent to screening would normally be the ethical standard.
Sickle cell anemia
Amino acid disorders
Maple syrup urine disease
Tyrosinemia type I
Fatty acid disorders
Medium-chain acyl-CoA dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase deficiency
Long-chain L-3-OH acyl-CoA dehydrogenase deficiency
Trifunctional protein deficiency
Carnitine uptake defect
Organic acid disorders
Glutaric acidemia type I
Hydroxymethylglutaric aciduria (also called HMG-CoA lyase deficiency or 3-OH 3-CH3 glutaric aciduria)
Multiple carboxylase deficiency
Methylmalonic acidemia due to mutase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Methylmalonic acidemia cblA and cblB forms
Congenital adrenal hyperplasia
Severe combined immunodeficiencies
Critical congenital heart disease
Glycogen storage disease type II (Pompe)
Mucopolysaccharidosis type 1
Policy Responses to the Ethical Controversies
Newborn screening policy is set at both the state and federal levels. State governments create and manage the programs, but the federal government has played a supportive role in newborn screening from the beginning. This role includes funding research on newborn screening, promoting the development of policies and guidelines, and partnering with states to improve their programs’ performance. The federal government also supports newborn screening indirectly through Medicaid, a medical assistance program for certain categories of the poor that is financed with federal and state funds. Many state newborn screening programs charge fees to third party payers for testing and diagnostic services, and Medicaid is the payer for nearly half of the babies born in the United States.
The federal Health Resources and Services Administration (HRSA) funded the ACMG expert group’s work. Through the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), which advises the Secretary of Health and Human Services, HRSA and other federal agencies have worked with states to implement the recommendations. Many states already had difficulty providing adequate follow-up services for the conditions in their existing test panels, and for all states, expanding programs to cover so many conditions has been a major challenge. The federal Newborn Screening Saves Lives Act of 2008 and Newborn Screening Saves Lives Reauthorization Act of 2014 have been instrumental in supporting state efforts to coordinate and improve their programs.
In response to criticism of the methodology used to add conditions to the Recommended Universal Screening Panel, the ACHDNC has developed and implemented a rigorous, evidence-based decision process. The process includes the criteria a condition must meet, a procedure for proposing a condition for consideration, and a working group tasked with the collection and evaluation of the strength of the evidence needed to confirm that the condition qualifies. The working group reports its findings to the full ACHDNC, which then votes on whether to recommend inclusion of the condition to the Secretary of Health and Human Services. If the vote is for inclusion and the Secretary accepts the recommendation, the condition is added to the screening panel. Five new core conditions and one new secondary condition have been added since 2008, bringing the totals to 34 core and 26 secondary conditions. (See “Core Conditions.”)
The decision process has lessened the variation in testing across states. Variation has not been eliminated, however. Not all states have chosen to test for all Recommended Universal Screening Panel conditions, and some states have added conditions to their test panels that have not been approved by the ACHDNC. Debate continues over the extent to which priority should be given to newborn screening given the constraints on the resources available for children’s health. In today’s health care system, there is no institutional structure that forces consideration of opportunity cost and ensures responsible stewardship. Without stewardship, special interest groups such as health professional organizations, consumer groups, and makers of screening technologies can exercise disproportionate influence on policy.
An unnerving development for newborn screening programs in recent years has been a fierce public controversy regarding parental consent. The main driver of the controversy seems to be the storage and use of residual blood spots without explicit consent, not the lack of explicit informed consent to the testing itself. A newborn’s DNA can be extracted from dried blood spots and DNA-based methods are part of the testing process for some conditions, for the initial screen and/or in the follow-up to definitive diagnosis. Fear of personal harm resulting from the use of one’s genetic information is common, and the public has been roused to action by advocates claiming that the state is “warehousing baby DNA” without permission and can do whatever it wants with it. One result has been litigation in three states (Minnesota, Texas, and Indiana) and the destruction of millions of stored blood spots.
The controversy highlights the importance of transparency and public education to the success of state newborn screening programs, for both ethical and practical reasons. Education has always been a key component of the programs. As they have expanded their test panels, they have worked hard to educate parents and the general public. However, they focused primarily on providing better information about the conditions and the testing process. They did not try to develop deliberate policies on retention and use of blood spots, or to educate the public on the nature and purpose of the policies. Parents and the public need to be well informed about the benefits of screening to infants as well as the benefits to society from the use of blood spots in research. Providing this information is not only the right thing to do, it can also encourage parents to support newborn screening, which is needed for the benefits to be realized. Ideally, it will be possible to work out compromise solutions based on public education about the benefits of testing and research with blood spots and a robust system of management and ethical oversight.
Mary Ann Baily, PhD, is a The Hastings Center Fellow.
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