The Changing Moral Focus of Newborn Screening: An Ethical Analysis by the President's Council on Bioethics
The President's Council on Bioethics
Congratulations to the staff for this white paper. It is lucid, clearly written, admiral in its judiciousness, a model of how to lay out complex and controversial issues in a way that opens up rather than shuts down essential debate.
The basic question is: What ethical principles should guide the practice of newborn screening in the United States?
Reading over the paper, I was reminded of the film Gattaca,1 not a great film but an instructive one. Gattaca imagines a future world dominated by genetic screening. At birth, infants are screened and are either declared “valids” or “invalids.” The “invalids” are also known as “de-gene-erates.” As a result, they do the society’s “grunt work” and are denied access to what the society values most highly and rewards most generously. The film’s protagonist, by the way, is near-sighted—that is his most egregious genetic “sin.” But such a flaw is bound to happen, we learn, because he is a “faith birth”—a child born the old-fashioned way without the benefit of the pre-pregnancy rules and regulations of the eugenic society in which he lives. (Needless to say, these rules and regulations mandate abortion for all “imperfections,” however slight.)
Let’s turn to our own society at present. We learn that the “great majority of babies born in the United States each year undergo screening soon after birth to identify genetic defects that could cause serious illness if left undetected and untreated.” What is the goal? To detect diseases as early as possible in order that effective treatment can be initiated. This, at least, has been the dominant model and rationale.
Over the years there has been a nigh-exponential leap in the number of disorders for which infants are screened, and nearly all infants today are screened for between “thirty and fifty genetic disorders.” This includes screening for genetic disorders that are extremely rare and for which there is no known treatment. The natural history of such disorders is not well understood.
In the once prevailing model, the infant’s good was the moral focus: screening must be of direct medical benefit to the infant if screening itself is to be justified. In the emergent model, newborns are turned into research subjects and the emphasis is no longer the well-being of a singular child but the genetic profile of entire populations in a situation in which efficacious treatment is not available for a whole range of potential disorders. To “screen for” is not the same as to “diagnose” a disease.
With more promiscuous screening, dilemmas involving screening grow more pronounced and serious—for example, the problem of false positives. As we learn, the large majority of initially positive results for the conditions states now screen for “will turn out to be incorrect.” There are thousands of false positives each year, and extraordinary expense is involved in eliciting such erroneous, misleading, and potentially damaging information. Every screening program is an experiment and, as with any program—whether in the medical, social, or economic realm—there are always unintended consequences. (So much is this the case that social scientists actually speak of a law of unintended consequences.)
The white paper takes us through the changing ethical principles governing newborn screening practices. The consensus that once pertained—a medical model with the goal of treatment held as the overall raison d'être—has given way, or is giving way, to a research protocol model. Under the earlier consensus, large-scale programs were not justified unless resources existed to confirm diagnoses and to treat maladies. Screening when no established treatment was available was considered ethically dubious and rarely justified. Otherwise, screening was a waste of scarce resources and likely to do more harm than good to both parents and their children. A “substantial benefit” to the infant and the family guided screening criteria.
Now, however, the older ethical norms are called “dogma”—in the language of critics. This is an interesting rhetorical move. When we hear “dogma” we think of those who criticize religion as something uncritically clung to when no “evidence” exists. We are told that dogma involves irrationality and stubborn immovability, especially from those who stand in the way of “progress.” The rhetoric of “dogma” is not deployed unthinkingly, one must assume, as those hoping to break down the earlier ethical and medical consensus strive to remove barriers to a vast research protocol involving tens of thousands of human infants.
Screening within a research paradigm holds forth vague future prospects of benefits to populations although there is no known improvement to be realized for any single individual at present. Justifications include a broadened concept of benefit and rationalizations for allowing technology to dictate the “pace and scope of the expansion of newborn screening.” Benefit remains at a hypothetical level. But the claim—held “dogmatically,” one might suggest—is that broad benefits will be derived at some future point. Critical consideration of knowledge in the absence of treatment is not foregrounded as a major concern.
My view is that one should not screen in the absence of any available treatment or when the benefits of treatment are insignificant; that families should not be overly burdened with anxiety, dread, “vulnerable child syndrome”—a sense that a genetic Sword of Damocles is hanging over their heads. The child’s life may be prematurely medicalized to no good or decent end. To this one must add the extraordinary, runaway costs of such screening in a society in which many are not receiving the immediate, necessary health care they require.
Babies should not be fodder for biomedical research if there is no available benefit to them as a result of that research. Although the foundation has been laid for radical expansion of newborn testing, it is critical at this juncture to raise questions and to mount challenges. One should always take care when radical changes in “the ethical framework of newborn screening” are proposed. Should we not consider the possibility that earlier ethical guidelines contained some wisdom that we dare not lose or overthrow altogether in favor of a radical refashioning that undercuts the historic gravamen of infant care?
Above all, as thoughtful human beings, we cannot and must not permit what we do in medicine to be driven by the possession of technologies. We must keep technology in its proper place, which is a subordinate one to the overarching goal—if medicine is the focus—of the well-being of the individual patient. Here, surely, do no harm remains the surest guide.
I concur, therefore, with the recommendations proposed to the President’s Council on Bioethics, with this caveat: I would cast recommendation #3 in somewhat stronger language so that parents understand their baby is being tested as part of a research, not a medical, protocol.
1. Columbia Pictures (1997), dir. Andrew Niccol.