Ethical Issues in Newborn Screening
Abstract and Keywords
Many new parents have little awareness of the battery of screening tests that are routinely conducted on newborns in the United States and the developed world. Newborn screening, one of the most significant achievements in public health over the past 50 years, invites ongoing debate over a number of ethical and legal issues that have been part of the newborn screening landscape since the inception of the programs in the 1960s. This chapter reviews the history of newborn screening, outlines some of the key ethical and legal issues raised by these programs, and offers a prediction about how new technology may change these systems over the next few decades.
Many new parents have little awareness of the battery of screening tests that are routinely conducted on newborns in the United States and the developed world. A band-aid on the infant’s heel is the most tangible sign to parents that newborn screening was done. Often referred to, inaccurately, as the “PKU test” by parents and providers alike, newborn screening actually targets a whole host of conditions through complex public health programs that represent the single largest application of genetic testing in modern medicine. Newborn screening is one of the most significant achievements in public health over the past 50 years (CDC 2011). Despite this success, the programs invite ongoing debate over a number of ethical and legal issues that have been part of the newborn screening landscape since the inception of the programs in the 1960s. This chapter will review the history of newborn screening, outline some of the key ethical and legal issues raised by these programs, and offer a prediction about how new technology may change these systems over the next few decades.
The purpose of newborn screening is to identify infants affected with a range of genetic, endocrine, and infectious diseases before the conditions cause irreversible morbidity or mortality for the child. Ideally, early detection allows preventive or therapeutic interventions before the child becomes sick. The first condition amenable to newborn screening was phenylketonuria (PKU), a condition that remains the paradigm condition for this approach to preventive health care. PKU is a genetic condition that is caused by a decrease in the function of a key enzyme in the body that metabolizes the amino acid phenylalanine to tyrosine. In the absence of the enzyme, phenylalanine accumulates in the body to high levels, causing progressive brain damage. Prior to birth, the mother’s body metabolizes phenylalanine for her fetus, but following birth, the infant’s body must handle this task. Infants with PKU appear entirely healthy at birth, but become progressively and irreversibly delayed within several months. However, if a diet low in phenylalanine is introduced when the infant is a few weeks of age, and continued through a lifetime, the adverse effects of the disease can be almost entirely prevented. (p. 252) Screening followed by dietary treatment for PKU can have an almost miraculous effect on the health of the child and the welfare of the family.
PKU was first identified by a physician, Asbørn Folling, in 1934 after a mother of two developmentally delayed children noticed a strong smell to their urine. PKU was subsequently identified as one of the most common causes of developmental delay at the time. The capability for screening for PKU was developed in the early 1960s by Robert Guthrie (Lewis 2014). Key to population screening was the ability to detect high levels of phenylalanine in dried bloodspots on filter paper cards. This enabled drops of blood to be obtained from a heelstick of the newborn, dried on filter paper, and sent through the mail in regular batches to a central laboratory. Although the test technology has evolved considerably since the early 1960s, heelsticks and bloodspots on filter paper cards remain basic elements of the programs throughout the world. The filter paper cards are called “Guthrie Cards” in honor of the inventor of this screening capability. (Currently, newborn screening programs also include hearing screening and screening for cyanotic congenital heart disease—approaches that do not involve blood tests. The focus of this discussion will be bloodspot screening.)
Once the ability to conduct screening and treat affected infants was developed, advocacy groups for individuals with developmental delay pushed for population screening. Advocates had a receptive ear in the Kennedy administration at the federal level (Brosco 2011). However, the medical profession, and the American Academy of Pediatrics specifically, were not supportive initially of population screening (Paul and Brosco 2013). The concern was that scientists and clinicians did not know enough about PKU and the about potential benefits and risks of screening. In response to the reluctance of pediatricians and hospitals to support PKU screening, advocates successfully convinced state health departments to adopt newborn screening as a public health measure. Massachusetts was the first state to adopt PKU screening in 1963, and other states came onboard with screening within the following decade.
The conduct of newborn screening as state-based public health programs has had a number of important ramifications. This is an unusual approach to medical testing or screening, tests that are usually conducted by clinicians using hospital or commercial laboratories and with the charges for testing being covered by the patient or a third party payer. The ramifications of the state-based approach are severalfold:
• Screening is provided for all newborns regardless of the family’s ability to pay.
• Until the last decade, the state-based approach permitted substantial variation from state to state on what conditions were targeted.
• Newborn screening is “mandatory” in most states, meaning that parental permission is not required for screening.
• The mandatory approach to screening, and other factors, has led to poor family and professional education about newborn screening.
• The state-based, public health approach to screening has not fostered the development of a national infrastructure for research on screening for these rare conditions.
The following sections will address each of these features in turn.
(p. 253) Provision of Services Regardless of the Ability to Pay
A great strength of the newborn screening system is that the screening services are provided for every infant in the United States regardless of the parent’s ability to pay. This was an important element of the programs since their inception and has remained a key feature ever since. States vary in how newborn screening is funded (American Academy of Pediatrics 2000). The majority of states charge the birthing facilities for the newborn screening “kits” that provide the Guthrie cards and cover the laboratory testing and short-term follow-up for infants who test positive. Currently, the state charges birthing facilities about $100 for the kit. Birthing facilities typically then charge new parents (or their third-party payers) for the kit and for obtaining and managing the bloodspot sample. These facilities typically charge parents more than $100, although these charges are bundled in the overall delivery charges. If the parents are not insured, the cost of newborn screening will be covered by the hospital and the state. The net result of this system is that parents are not aware that they are being billed for this service and every newborn is provided service without attention to cost issues.
Most states will cover services for infants who screen positive until a definitive diagnosis is made and the child is entered into a professional relationship with a generalist or specialist who will provide long-term services. Long-term services are not provided through the system, meaning that parents and affected children are subject to the potential gaps and inequities of the US health system. Clearly the efficacy of the newborn screening system itself will only be as good as the services provided for affected children. For many conditions like PKU, the primary intervention is dietary and special foods are poorly covered by many health insurance providers. Inadequate coverage of special foods for children affected with rare metabolic conditions remains a major challenge for these families (Camp, Lloyd-Puryear, and Huntington 2012).
Variation from State to State
Within a few years, states began to add additional tests to the newborn screening panel, including congenital hypothyroidism, galactosemia, and hemoglobinopathies, including sickle cell disease. States made these determinations largely independently with the well-known Wilson and Jungner criteria for population screening as the guiding standard for most states. (See Figure 11.1) These criteria were articulated in 1968 to address population screening in general, but the concepts were relevant to newborn screening (Wilson and Jungner 1968).
However, the criteria are subjective enough that, over time, state screening programs diverged in the nature and number of tests conducted. What does it mean to say, for example, that a condition is an “important health problem”? Many conditions for which (p. 254) screening is conducted are relatively rare, with a population prevalence in the range of 1 in 10,000 to 1 in 100,000 infants. Obviously these diseases represent important health problems to the families affected. Furthermore, state populations vary in racial makeup, and some heritable conditions have substantially different frequencies in different racial groups. If a state has a small proportion of, say, African Americans in the population, would it be appropriate to conclude that sickle cell disease is not “an important health problem” in the state? Due to considerations of justice, states have implemented screening for rare conditions and conditions for which only a small subpopulation in the state is at increased risk.
By 2000, the variation between states in newborn screening programs had become substantial and lay and professional advocates successfully pushed for a uniform screening panel (American Academy of Pediatrics 2000). In 2004, the American College of Medical Genetics (ACMG) published a recommended list for a uniform panel (ACMG 2006) and, at about that same time, the Secretary of HHS, pursuant to federal legislation, established an advisory panel to make recommendations for the addition of new conditions to state panels. Subsequently, the Secretary’s Advisory Committee on Heritable Diseases in Newborns and Children has conducted evidence reviews and made recommendations for states (Secretary’s Advisory Committee 2015). Although the Secretary of HHS must approve the recommendations of the Advisory Committee, states remain free to add new conditions as they think appropriate. This system has resulted in substantially more uniformity between states in how newborn screening is conducted.
In all areas of the United States but the State of Wyoming and the District of Columbia, newborn screening is considered “mandatory.” That is, screening can be conducted without the explicit consent of the parents. Most states permit parents to opt out of screening for religious or philosophical reasons, although there are no major religious (p. 255) traditions that have doctrines that preclude newborn screening. Approximately eight states do not permit parents to opt out under state law, but, in practice, parents are almost never forced to accept screening over their objections. The single exception was a recent case in Nebraska in which state officials brought charges of child neglect against a family who refused newborn screening based on their idiosyncratic religious beliefs (Harrell 2009). The state took physical custody of the child for several days in order to conduct screening (with normal results). Subsequently, the Nebraska Supreme Court determined that a failure to permit newborn screening was not, in and of itself, sufficient to uphold a determination of child neglect. The actual number of parents who object to newborn screening is extremely low, both because a large majority of parents support newborn screening and because parents are not effectively informed of their ability to opt out in many states.
Mandatory screening has been a feature of newborn screening programs since their inception in the 1960s and has been controversial since that time. The justification has been that screening for conditions like PKU provides such substantial benefit to affected children that our traditional respect for parental authority over health care decisions for their children need not be honored in this context. However, in 1994, the Institute of Medicine recommended a consent model for newborn screening (Andrews et al. 1994) and in 2013, the American Academy of Pediatrics along with the American College of Medical Genetics recommended that parents provide permission for newborn screening, although they did not necessarily advocate for use of a signed consent form (American Academy of Pediatrics 2013). The primary arguments in favor of parental permission include a respect for parental authority, the role of informed consent in enhancing parental knowledge about newborn screening, and low probability that any particular newborn, absent a family history, will be affected by a targeted condition. There is also the clear expectation that the large majority of parents will provide permission for screening, meaning that mandates are not necessary.
Arguments in support of the current “opt-out” approach were presented by the American Society of Human Genetics in a 2015 statement on ethical and legal issues in genetic testing in children (Botkin et al. 2015). A key point is that newborn screening is rather complex in some respects and that fostering a truly informed decision in the context of the hectic environment of postpartum care is not feasible. The suggestion is that neither the staff nor new parents are likely to attend to informed decision making when many other issues about the care of a new baby and postdelivery mothers have higher priority. The consent process and signature on a form are likely to become perfunctory, undermining the primary value in the informed consent process. Surveys that have asked members of the lay public about this issue have found that respondents are largely split over whether an opt-in or opt-out approach is most appropriate (Botkin et al. 2012).
An emerging element in the debate over parental permission is the perception that some conditions being added to the state newborn screening panels do not clearly fit the original criteria promoted for mandatory, state-based screening. The benefits from screening for PKU are substantial and the risks are minimal, arguably justifying a mandatory state policy. But the benefits associated with screening for some conditions being (p. 256) considered for newborn screening are much less dramatic. Fragile X disease is a good example (Bailey et al. 2008). Fragile X is a genetic condition that is manifest primarily in boys as developmental delay. However, there are some implications for girls who may have some developmental delay and who may have health problems like ovarian dysfunction decades later. There is no definitive treatment for Fragile X, although early intervention may help families address social and behavioral challenges at a younger age for the child, potentially enhancing their efficacy. Furthermore, parents, if informed of an affected newborn, will be forewarned of their risk of bearing an affected child with future pregnancies. Third, parents may benefit from eliminating the so-called “diagnostic odyssey,” the difficult path many parents follow from provider to provider in their attempt to find a diagnosis for their child’s rare and unfamiliar condition. So there are benefits to screening newborns and to their parents even in the absence of a definitive treatment, but these benefits are much less compelling than those for PKU, congenital hypothyroidism, or sickle cell disease. Furthermore, Fragile X is a complex condition, and screening can yield information that is hard to interpret. Should conditions like Fragile X be on newborn screening panels and, if so, should the state mandate such testing along with all the other conditions on the newborn screening panels?
One consideration is to create a “second tier” of conditions amenable to newborn screening but not mandated by the state. These conditions would be offered to parents but not mandated by the state. This approach was endorsed by the President’s Council on Bioethics in its 2008 statement on newborn screening (President’s Council on Bioethics 2008; Fleischman, Lin & Howse 2009). Other scholars are pursing this concept (Bailey and Gehtland 2015). Whether these second-tier tests would be administered through state programs or be purchased separately on the commercial market is an open question. Clearly this approach raises some justice issues because if these tests are not covered under the state program, access for families with limited means would be reduced. This lack of access may not be of critical concern if screening for these conditions is not associated with clear and substantial benefits, however.
Parent and Professional Education About Newborn Screening
The education of both clinicians and parents is seen as an important component of newborn screening systems that may enhance the efficacy of programs and reduce adverse impacts. Yet it has been broadly recognized that current approaches to parental education are largely ineffective (Arnold, Davis, and Ohene-Frempong et al. 2006). The lack of effective education for parents is an important problem in the United States for several reasons. Of primary significance is the parents’ role as key participants in state newborn screening programs. Prompt collaboration between professionals and parents is critical to providing initial screening, confirmatory testing and evaluation, and follow-up (p. 257) services for affected children. In addition, the literature clearly documents that some parents and families are harmed through an inadequate understanding of false-positive test results (Waisbren 2003). Second, as recognized by the American Academy of Pediatrics, parents have a right to basic information about medical interventions conducted on their children, regardless of the mandatory nature of newborn screening in almost all states (American Academy of Pediatrics 2000). Third, surveys and focus groups document that, when made better aware of newborn screening programs, parents indicate a strong preference for better education about newborn screening and for this information to be provided prenatally (Davis et al. 2006; Botkin et al. 2014). Fourth, 21 states require parental education through their newborn screening legislation, and all states prepare educational materials for parents. Fifth, the research use of residual specimens cannot be justified under state mandates for clinical screening, so there is a new expectation, established by federal law, that parents be offered information and choice about this practice at least for research funded by the federal government (Lewis 2015).
All newborn screening programs offer information to parents, primarily through printed material provided in the newborn nursery. However, as noted, most states do not have an informed permission requirement for newborn screening services, meaning that informational requirements for screening can be met through passive mechanisms such as brochures. That is, there is no requirement that parents understand the nature of newborn screening services or approve the testing of their child. The literature clearly documents the limited efficacy of this traditional approach (Arnold et al. 2006). Recognizing this problem, the American Academy of Pediatrics Task Force on Newborn Screening outlined a national agenda for strengthening state newborn screening systems and specifically called for the development and assessment of new educational tools for parents and professionals (American Academy of Pediatrics 2000). Subsequent research has shown that parents do not need or expect a detailed explanation of the conditions targeted or the complexities of the screening program. A set of simple facts about the program and what to expect regarding results is sufficient (Davis, Humiston, and Arnold et al. 2006).
Given the problems in effectively engaging parents in the immediate postpartum time period, there is a growing consensus that education of parents regarding newborn screening and residual specimens should occur as a part of prenatal care, rather than in the postpartum period alone (Farrell and Mischler 1992; Campbell and Ross 2004; Botkin 2005). The prenatal period is a potentially more effective time for education due to a longer timeframe and the parents’ eagerness to learn about anything related to the health of their future child (Diem 2004; Rothwell et al. 2013).
Our own research group conducted a randomized, controlled trial of two computer tablet–based educational videos for pregnant women at about 36 weeks gestation. Women were recruited in three US cities and included a diverse set of participants with respect to income, education, and racial/ethnic heritage. Whereas the educational interventions improved knowledge of newborn screening when measured post delivery of the infant, the more remarkable finding was that the educational interventions enhanced the support of parents for newborn screening programs. Our findings were (p. 258) similar with respect to mothers’ knowledge and support for research uses of residual dried bloodspots, a practice that has been controversial in several states in recent years (Botkin et al. 2016). Whereas educational interventions appear to be effective in such controlled circumstances, there are substantial challenges to implementing effective education about a complex topic on a population-wide basis. However, the almost universal use of tools like smartphones, tablets, and computers offers the possibility of innovative approaches to education that are not dependent on the time and expertise of clinicians in busy office or hospital settings.
Research Relevant to Newborn Screening
As noted earlier, the original introduction of the PKU screening program was controversial and was not supported by many professionals because many felt that the condition was not adequately understood. Most of the conditions targeted by newborn screening are quite rare, posing serious challenges to gaining an adequate understanding of the condition and its treatment. Even clinicians at referral centers are likely to see only a limited number of affected children during the course of a career, and these patients will be spaced over time. This means it is virtually impossible to undertake a controlled clinical trial of a treatment intervention at only one or a few centers. This results in substantial variation between centers in treatment strategies and, often, assessments of efficacy by comparison to historical controls (Botkin 2005).
This same set of challenges pertains to research on screening programs to determine whether early detection and intervention improve the outcomes for affected children. Carefully designed trials of screening are particularly important due to the way in which population screening changes the known clinical spectrum of the conditions targeted. Most medical conditions have a wide range of severity. When conditions are first identified and characterized by clinicians, they describe individuals who tend to be more severely affected. This is simply because mild cases tend to go unnoticed or not recognized as distinctly different from other conditions. However, when population screening is conducted, affected individuals across the range of severity are found because they are identified through a biochemical abnormality and not by clinical symptoms. Therefore, screening programs identify many more “affected” individuals that are detected from clinical symptoms alone. This creates an “ascertainment bias” when comparing outcomes of individuals identified through screening to those identified by clinical presentation. If we compare the outcomes of these two groups (screening identification vs. clinical identification), the outcomes of the screened group will appear better simply because the screened group is enriched with less severe cases. A result may be that professionals and public policy experts will falsely conclude that screening improves outcomes.
(p. 259) Ascertainment bias creates serious challenges in conducting research on newborn screening. From a scientific perspective, it would be ideal to randomize newborns to screening versus clinical identification when there is equipoise about the efficacy of screening, and then to compare the outcomes of these two groups. Yet if there is reasonable confidence that early detection and intervention will improve the lives of affected children and their families, it becomes an ethical challenge to randomize children to a clinical detection group. Lay advocacy groups that are organized around certain conditions are often convinced of the value of population screening before the professional community, raising a political challenge to conducting a randomized trial, in addition to the barriers of cost and complexity.
To date, the only newborn screening research project that randomized population screening was the cystic fibrosis trial in Wisconsin started in the 1980s (Farrell and Mischler 1992). In this project, all newborns were screened for cystic fibrosis at birth, but investigators only looked at a random half of the results. Infants with cystic fibrosis in the group with early results were identified early and treatment begun. The other half of infants had their results read at 4 years of age. Children with a positive cystic fibrosis result were tracked down, families were informed of the result (if the children had not been clinically diagnosed already), and treatment was initiated. By comparing the early detection group with the later detection group, critical data were obtained on the efficacy and impact of newborn screening for cystic fibrosis. However, the ethics of this trial were much debated, and one set of parents entered a lawsuit against the state because they had a second child born with cystic fibrosis before the trial read the results of their first affected child. This suit was unsuccessful because of the extensive review and approval of the trial design. Nevertheless, due to these types of ethical concerns, randomized controlled trials of screening will be difficult to perform. As screening capabilities evolve and become more powerful and accurate, public health programs may be stuck with making critical decisions regarding population screening using comparisons of outcomes from screened infants with historical controls—a poor evidence base for programs that impact 4 million children per year.
Virtually all of the tests used for bloodspot screening at the present time target metabolic products that are variously found at increased or decreased concentration in affected infants. Given the fact that most conditions detected through newborn screening are genetic, theoretically, newborn screening could transition to DNA-based tests. However, the genetics of such conditions are often complex with gene dysfunction arising from numerous different variants in different individuals. The CF gene, for example, has thousands of mutations that cause the disease, some of which are common but many of which have been found in only one or a few individuals. So while DNA-based analysis for the common CF mutations is used in newborn screening programs, the definitive (p. 260) test remains the sweat test. For these reasons, at the present time, tests for metabolic abnormalities remain the test of choice for these rare conditions because testing for these end products reflects a final common pathway for hundreds of different mutations and interactions between multiple genes. It is certainly possible that, with time and research, we will know enough about the underlying genetics of these conditions to target DNA variants directly. If so, it is possible that the rapid, automated analysis of DNA will move the analysis from public health laboratories to hospital-based or even bedside testing.
Consider the scene in the 1997 movie GATTACA when, from a drop of blood, the technician reads out predictions for the future health of the baby when he is only minutes old. This scenario is appearing to be less a science fiction story and more a realistic possibility if we choose to pursue this course. Such a change in technology could have profound impacts on various aspects of the programs, including the central role of public health programs and the features that flow from that foundation, including universal access as well as mandatory implementation.
The rapid expansion of newborn screening has occurred because new tests can be efficiently added to the existing program infrastructure. Yet as the number of tests expands, the original justifications for the program infrastructure weaken. That is, when the benefits to the child become less compelling, the justification for the mandatory, public health approach to screening becomes more difficult to maintain (Gross et al. 2006). At the same time, a stronger justification for individual parental choice about screening is challenged by the enormous difficulty of adequately educating each and every new parent about these complex choices. Making public policy in the context of such value trade-offs requires much more transparency and public engagement than has been a feature of newborn screening programs traditionally.
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