Ethics and Newborn Screening

Selected resources from The Hastings Center.

Bioethics Briefings:

Newborn Screening

Newborn screening programs test nearly all infants born in this country for selected inherited and congenital conditions that can cause disability or death. A dramatic expansion of newborn screening programs has taken place, with most states now testing for at least 37 core conditions, up from fewer than 10 in the early 2000s. The expansion of newborn screening has raised ethical controversies about its cost, evidence of its efficacy, and parental informed consent. Read our briefing to consider: what are the benefits and costs of directing resources to newborn screening?

From Hastings Bioethics Forum:

From Hastings Center Report:

First published: 24 April 2023

Abstract

Over the past several decades in which access to abortion has become increasingly restricted, parents’ autonomy in medical decision-making in the realms of fetal care and neonatal intensive care has expanded. Today, parents can decide against invasive medical interventions at gestational ages where abortions are forbidden, even in cases where neonates are expected to be seriously ill. Although a declared state interest in protecting the lives of fetuses and newborns contributes to justifications for restricting women’s autonomy with regards to abortion, it does not fully explain this discrepancy. We believe that social portrayals of women as complying with or shirking their reproductive function play a major role in explaining it. The growing divide between a woman’s rights as a reproductive being and as a parent suggest that abortion restriction is rooted in a historical societal desire for women to serve as reproducers and in the corresponding fear of them abandoning this allotted role in pursuit of social equality. The Dobbs v. Jackson (2022) decision is not based in a view of abortion as a medical act occurring between a doctor and patient, as Roe v. Wade (1973) did, but decision-making about fetal therapy or NICU care is still viewed as occurring between a doctor and patient or surrogate because in this act a woman is seen as fulfilling her role as mother.

Genomic Testing, Unexpected Consanguinity, and Adolescent Parents

First published: 05 August 2021

Abstract

This case study about an infant with epidermolysis bullosa and his fourteen-year-old mother involves pediatric genomic testing and concerns about the adolescent parent’s decision-making capacity. Four commentaries explore ethics issues in the case, including the following challenges: The current ethics guidelines regarding informed decision-making for genomic testing and return of results have been relatively silent on how to involve parents who are minors in decision-making on behalf of their children. This lack of guidance can be particularly difficult for physicians when genetic test results revealing consanguinity raise concerns about sexual abuse of a minor, provoking questions about mandatory reporting requirements. Finally, medical teams may find themselves having to evaluate an adolescent parent’s capacity in making medical decisions for her child while questioning the role and relationship of her support person.

Qualitative Research on Expanded Prenatal and Newborn Screening: Robust but Marginalized

First published: 03 July 2019

Abstract

If I told you that screening technologies are iteratively transforming how people experience pregnancy and early parenting, you might take notice. If I mentioned that a new class of newborn patients was being created and that particular forms of parental vigilance were emerging, you might want to know more. If I described how the particular stories told about screening in public, combined with parents’ fierce commitment to safeguarding their children’s health, make it difficult for problematic experiences with screening to translate into negative opinions about it, you would most likely be intrigued. An extensive qualitative literature documents all these social phenomena, and more, in connection with the spread of prenatal and newborn screening. So why is it, then, that commentators frequently assert that the predicted psychosocial impact of increased screening and testing associated with “the genomic revolution” has been far less severe and worthy of attention than predicted? How can or should social science “evidence” that sits outside adopted measurement conventions be considered? Why is it that summary statements about the psychosocial impact of genomic information often ignore qualitative evidence, or sideline it as relevant only for improving communication among patients, clinicians, and public health systems? This essay addresses such questions, using qualitative research on prenatal and newborn screening as a case study for illustrating the broad methodological, ideological, and dialogical issues at stake.

Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies

First published: 14 August 2018

Abstract

Many scientists and doctors hope that affordable genome sequencing will lead to more personalized medical care and improve public health in ways that will benefit children, families, and society more broadly. One hope in particular is that all newborns could be sequenced at birth, thereby setting the stage for a lifetime of medical care and self-directed preventive actions tailored to each child’s genome. Indeed, commentators often suggest that universal genome sequencing is inevitable. Such optimism can come with the presumption that discussing the potential limits, cost, and downsides of widespread application of genomic technologies is pointless, excessively pessimistic, or overly cautious. We disagree. Given the pragmatic challenges associated with determining what sequencing data mean for the health of individuals, the economic costs associated with interpreting and acting on such data, and the psychosocial costs of predicting one’s own or one’s child’s future life plans based on uncertain testing results, we think this hope and optimism deserve to be tempered.

In the analysis that follows, we distinguish between two reasons for using sequencing: to diagnose individual infants who have been identified as sick and to screen populations of infants who appear to be healthy. We also distinguish among three contexts in which sequencing for either diagnosis or screening could be deployed: in clinical medicine, in public health programs, and as a direct-to-consumer service. Each of these contexts comes with different professional norms, policy considerations, and public expectations. Finally, we distinguish between two main types of genome sequencing: targeted sequencing, where only specific genes are sequenced or analyzed, and whole-exome or whole-genome sequencing, where all the DNA or all the coding segments of all genes are sequenced and analyzed.

In a symptomatic newborn, targeted or genome-wide sequencing can help guide other tests for diagnosis or for specific treatment that is urgently needed. Clinicians use the infant’s symptoms (or phenotype) to interrogate the sequencing data. These same complexities and uncertainties, however, limit the usefulness of genome-wide sequencing as a population screening tool. While we recognize considerable benefit in using targeted sequencing to screen for or detect specific conditions that meet the criteria for inclusion in newborn screening panels, use of genome-wide sequencing as a sole screening tool for newborns is at best premature. We conclude that sequencing technology can be beneficially used in newborns when that use is nuanced and attentive to context.

Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels

First published: 14 August 2018

Abstract

Now widely adopted, SCID newborn screening has proven effective for early identification and treatment of SCID. In addition, screening has improved our understanding of SCID and related disorders, which are more diverse than originally believed. Newborn screening for SCID illustrates how adding new disorders to newborn screening panels can be enormously beneficial if evidence-based guidelines are adhered to and if mechanisms are in place to track outcomes and learn along the way. These lessons should guide all additions to newborn screening, including those involving sequencing.

Eugenics Redux: “Reproductive Benefit” as a Rationale for Newborn Screening

First published: 14 August 2018

Abstract

In recent years, as newborn screening has expanded to include conditions for which treatment is questionable, new rationales for screening have proliferated. One such rationale is the potential reproductive benefit to parents from the detection of a genetic condition or carrier status in infants. An unanticipated consequence of invoking knowledge of reproductive risk as a major benefit of screening has been to open newborn screening to the charge that it constitutes state-sanctioned eugenics. Thus, an endeavor that had been viewed as the converse of state programs of selective breeding has come to be seen in some quarters as yet another of its incarnations. The result has been serious and self-inflected harm to the reputation of newborn screening programs.

What Genomic Sequencing Can Offer Universal Newborn Screening Programs

First published: 14 August 2018

Abstract

Massively parallel sequencing, also known as next-generation sequencing, has the potential to significantly improve newborn screening programs in the United States and around the world. Compared to genetic tests whose use is well established, sequencing allows for the analysis of large amounts of DNA, providing more comprehensive and rapid results at a lower cost. It is already being used in limited ways by some public health newborn screening laboratories in the United States and other countries—and it is under study for broader and more widespread use, including as a core part of newborn screening programs. Sequencing technology has the potential to significantly improve these essential public health programs. For many of the conditions that newborns are already screened for, sequencing can return more specific and more sensitive results. The technology could also enable newborn screening programs to expand the list of rare pediatric conditions that they look for, thereby identifying more infants who can benefit from immediate care.

Families’ Experiences with Newborn Screening: A Critical Source of Evidence

First published: 14 August 2018

Abstract

Debates about expanding newborn screening with whole genome sequencing are fueled by data about public perception, public opinion, and the positions taken by public advocates and advocacy groups. One form of evidence that merits attention as we consider possible uses of whole-genome sequencing during the newborn period is parents’ (and children’s) diverse experiences with existing expanded screening protocols. What do we know about this experience base? And what implications might these data have for decisions about how we use whole genome sequencing and how we assess its impact in the future? Although the broader literature on genetic susceptibility testing suggests that testing usually does not have adverse effects on children’s psychosocial well-being, certain newborn screening results have been demonstrated to cause distress, alter behavior, and even to influence the formation of new parental and family identities.

Single-Gene Sequencing in Newborn Screening: Success, Challenge, Hope

First published: 14 August 2018

Abstract

Some state-based newborn screening programs in the United States already use sequencing technology, as a secondary screening test for individual conditions rather than as a broad screening tool. Newborn screening programs sequence an individual gene, such as the cystic fibrosis transmembrane conductance regulator, which causes cystic fibrosis, after an initial biochemical test suggests that a baby might have a condition related to that gene. The experiences of state public health departments with individual-gene sequencing illustrate both the usefulness of the technology and its complexities. Here I discuss how newborn screening programs investigate cystic fibrosis and, as another example, adrenoleukodystrophy through individual gene sequencing.

First published: 14 August 2018

Abstract

The possible integration of genomic sequencing (including whole-genome and whole-exome sequencing) into the three contexts addressed in this special report—state-mandated screening programs, clinical care, and direct-to-consumer services—raises related but distinct legal issues. This essay will outline the legal issues surrounding the integration of genomic sequencing into state newborn screening programs, parental rights to refuse and access sequencing for their newborns in clinical and direct-to-consumer care, and privacy-related legal issues attending the use of sequencing in newborns.

Commercial Interests, the Technological Imperative, and Advocates: Three Forces Driving Genomic Sequencing in Newborns

First published: 14 August 2018

Abstract

While the NSIGHT program was driven by a desire to define and gather data about both the benefits and harms of introducing genomic sequencing into the care of newborns, it remains to be seen how much influence these data will have in shaping the use of this technology in newborns. Ultimately, three additional forces—commercial interests, the technological imperative, and advocates—may play a significant role in shaping the use of sequencing in newborns. Policy-makers and clinicians should be aware of the effects of these additional forces when considering the appropriate use of this technology in clinical practice and public health screening programs.

Using Newborn Sequencing to Advance Understanding of the Natural History of Disease

First published: 14 August 2018

Abstract

A significant portion of newborns cared for in the neonatal intensive care unit or other ICUs, such as the cardiac ICU, have a medical condition with a genetic component, including congenital malformations, the leading cause of death in the NICU. In many cases, however, it is not clear which condition the child has or what can be done to help him or her. Genomic sequencing of sick newborns has the potential to bypass the prolonged journey to a diagnosis, improving the medical care of individual infants. Sequencing also has the potential to benefit others beyond the child whose genome is sequenced and his or her immediate family. Sequence data from sick newborns will expand medicine’s understanding of genetic diseases, leading to improvements in clinicians’ ability to counsel family and to provide even more targeted care. Not only will more frequent use of sequencing lead to discovery of new genes; it will also provide unique insights into the full spectrum of known Mendelian genetic diseases, so-called phenotypic expansion, when a gene previously recognized as associated with a phenotype is found to be associated with an expanded set of clinical features. Genetic and environmental changes that modify the expression of a genetic disease may also be elucidated.

Little people, big problems

First published: 20 January 2016

Abstract

This November I spent three days in Washington, D.C., splitting my time between The March of Dimes Prematurity Prevention Conference and a National Institutes of Health meeting about the use of genome sequencing technology in newborns. The trip was a powerful reminder for me of a problem I’ve confronted before.

Maintaining Trust in Newborn Screening

First published: 13 September 2012

Abstract

Newborn screening consists of taking a few drops of blood from a baby’s heel in the first week of life and testing it for a list of disorders. In the United States and most countries in Europe, newborn screening programs began in the 1960s and 1970s with screening for phenylketonuria (PKU), a rare metabolic disease that causes severe and irreversible mental retardation unless treated before problems arise. As knowledge about rare diseases expanded and new screening technologies were introduced—such as the tandem mass spectrometer and high-performance liquid chromatography—the same blood sample could be used to test for a whole list of disorders.

In general, screening programs in most countries have tended to expand, but in different countries they have expanded in different ways. Regulation also varies. In some states, screening is mandatory, whereas in others—Wyoming and Maryland—parents are asked for their informed consent. Germany and France have adopted an explicit informed consent procedure, whereas other European countries have a more informal “opt-out” procedure that does not require signing an informed consent form.

Whether newborn screening requires informed consent is an ongoing issue in bioethics. In this article, we will focus on the tension between informed consent and the problem of compliance in newborn screening. Asking for informed consent—allowing parents to opt out—is often thought to pose a threat to compliance. Building on the work of Onora O’Neill on informed consent and trust, however, as well as on work she coauthored with Neil Manson, we will argue that informed consent procedures may actually help maintain trust in newborn screening and may therefore support compliance.