The Changing Moral Focus of Newborn Screening: An Ethical Analysis by the President's Council on Bioethics
The President's Council on Bioethics
Having read closely the final draft of the Council’s white paper on ethical issues in the current expansion of newborn screening, we feel obliged to add a statement of our own on the white paper’s tone and scope.
In our view, while the staff have conducted an admirable and comprehensive review of the current situation concerning the possible further consequences of continued expansion of mandatory genomic screening capacities, there is also frequent speculation about those future consequences of screening that goes too far. Worrying about logically possible but low probability outcomes down the road of the unknown has its limits. Furthermore, we think that the transition into speculating on the adverse consequences for medical practice and the “Doubts About the Power of Genomic Medicine” (Chapter Three) extends beyond both the needs of this white paper and the implications of the reality of how medicine is practiced today.
As the white paper notes early on, the expanded uniform screening panel proposed by the American College of Medical Genetics in 2005 was “promptly endorsed by the Advisory Committee [to the Secretary of Health and Human Services] on Heritable Disorders and Genetic Diseases in Newborns and Children,” and, “by November 2008, almost all of the states had adopted the ACMG’s panel of twenty-nine core conditions, and most had initiated screening for a majority of the twenty-five secondary conditions.” Given that state of adoption, any practical utility to be gained by having the Council speak out on the ethical issues that may be consequences of the transition from a “screen only if you can intervene” to “screen unless there is some reason not to” must be reliant upon only the most scientifically based arguments. We are extremely skeptical that at this point in the national discussion we can expect to mount ethical arguments sufficiently persuasive to have 50 state legislatures reverse their prior commitments to the screening process.
When the white paper states (Chapter Three) that “doubts have been expressed about the potential of genomic studies to find markers for susceptibility to the most common diseases afflicting mankind, as opposed to the rare metabolic disorders that are the primary target of newborn screening today,” it moves well beyond the focus on newborn screening that we took to be the focus of the report. While we acknowledge that it is the potential benefit to societal health that drives the quest for identifying the heritable factors that can enhance or reduce vulnerabilities to disease pathways, raising the specter that such genomic information is irrelevant goes well beyond any existing science and prematurely casts doubt on that which will be knowable when more data have been gathered and analyzed. Forestalling knowledge strikes us as a blatantly anti-intellectual fear of knowledge. The NIH has, after all, already completed the major inventory of the human genome and extended it into inter-individual analysis, established the HapMap consortium, and facilitated the early stages of commercialization of complete individual genomes with their unique SNPs and HapMaps. How long it may take to convert those efforts into useful treatments or preventions may be unknowable now, but questioning that end seems to us to be well beyond the issues of newborn screening.
The ongoing difficulty of finding genomic markers for common diseases should not be misinterpreted as an indication that such markers do not exist. For instance, while some observers may be astounded that the analysis of the human genome to date reveals only minor inter-individual bases for identifying the “causes” of type 2 Diabetes Mellitus, the heritability of this and other genetically complex medical diseases is scarcely in doubt.
In addition and with specific regard to the example of Duchenne Muscular Dystrophy, it strikes us as illogical to question screening of newborns on the basis of the current treatment protocol, which would delay treatment with corticosteroids since it is not presently possible to institute such treatment until later in life. In our view, the inclusion of this genetic identifier in the newborn screening panel is already more than justified by the low cost to gain this potential diagnostic insight, and further, by the opportunity for future research to reveal better ways to treat earlier to reverse the disease.
The white paper poses the question, “Suppose that expanded screening of an infant reveals not a fatal and incurable disease but instead a host of genetic variants, each of which merely confers elevated risk for some condition or other? Who is to say at what point an uncovered defect becomes serious enough to warrant preventing the birth of other children who might carry it? At what point have we crossed the line from legitimate family planning to capricious and morally dubious eugenics?” In our view, it may be legitimate to pose the question, but it is not appropriate to narrowly focus the consequence of such discoveries to a sinister eugenics decision. Knowing the means by which a new discovery confers elevated risk may simply be the first step in knowing how to stem that and future individuals’ journey down an unhealthful pathway to disease, and may eventually lead to new methods of prevention or more effective treatments. In raising these questions in this anti-intellectual manner, the white paper seems to us to go much further down the road of unknown consequences than the facts offer and to un-heuristically constrain the grounds on which to imagine our future.
That overly constrained view of the future potential of genomic insights into disease prevention is further demonstrated in the white paper’s statement asserting—without any evidence to support it—the doubtfulness of the scientific perspective: “The presumption of modern science, including medical genetics, has always been that knowledge is fundamentally good for human beings, and that the more we know about ourselves the better we will be able to live the kind of lives we want to live.”
While we do agree that “there is…the possibility that such knowledge will be misused or misinterpreted,” that has historically always been the case when new knowledge becomes available, at least as far back as the invention of the printing press. Having informed the society of this potential danger, it is society’s responsibility to keep that danger, but not the potential benefit, from happening. To that end, this discourse should benefit the public discussion of future newborn screening.
However, when the white paper asserts that “we as a nation have not been in the habit of subjecting individuals to compulsory screening merely for research purposes,” we again see anti-scientific thinking at play. The phrase “subjecting individuals to compulsory screening” depicts a far more invasive procedure than the sampling of heel stick or cord blood that occurs, while “merely for research purposes” greatly diminishes the fundamental quest for self-knowledge. To the white paper’s assertion that, “In the wake of the ACMG report and its enthusiastic reception by the states, our approach to newborn screening seems to be heading into uncharted territory,” we ask: should Lewis and Clark have stayed home?