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This staff working paper was discussed at the Council's June 2008 meeting and was prepared by staff solely to aid discussion, and does not represent the official views of the Council or of the United States Government.

Ethical Issues in the Current Expansion of Newborn Screening

A Staff Working Paper of the President's Council on Bioethics

Adam Schulman, PhD, and Sam Crowe, PhD

Prefatory Note

This working paper is intended to form part of a White Paper on ethical issues in newborn genetic screening, to be published in the near future by the President's Council on Bioethics. We expect the White Paper to consist of three chapters, followed by personal statements by members of the Council. The first chapter will describe the current practice of newborn screening in the United States: how a blood sample is taken from each infant at birth, how the blood is tested for heritable disorders, and what is done with the information gleaned from those tests. The second chapter begins with the ethical principles that have governed the practice of newborn screening for the past 40 years; it then considers the question of whether those ethical principles have been altered or abandoned by the new regime of expanded newborn screening recently adopted by most states. The third chapter will deal with the future of newborn screening, examining the ethical implications of the vast expansion of newborn screening that can be anticipated as we enter the age of personalized genomic medicine.

The present working paper, which will form the core of the White Paper's second chapter , is chiefly an examination of the ethical principles that inform the expanded uniform screening panel recently proposed by the American College of Medical Genetics (ACMG) and promptly embraced by most of the 50 states. In particular, we consider whether, under the new regime of expanded newborn screening, the classical principle—“screen only if you can treat”—has been mostly preserved, or rather superseded by new and different principles.

I. The classical principle: screen only if you can treat

For forty years, there has been a durable consensus on the ethical principles that ought to guide the practice of newborn screening. An early and influential presentation of those principles was the 1968 World Health Organization monograph by James Wilson and Gunnar Jungner, Principles and Practice of Screening for Disease . The ten Wilson-Jungner criteria for including a condition in a screening program are as follows:

  1. The condition sought should be an important health problem.
  2. There should be an accepted treatment for patients with recognized disease.
  3. Facilities for diagnosis and treatment should be available.
  4. There should be a recognizable latent or early symptomatic stage.
  5. There should be a suitable test or examination.
  6. The test should be acceptable to the population.
  7. The natural history of the condition, including development from latent to declared disease, should be adequately understood.
  8. There should be an agreed policy on whom to treat as patients.

  9. The cost of case-finding (including diagnosis and treatment of patients diagnosed) should be economically balanced in relation to possible expenditure on medical care as a whole.
  10. Case-finding should be a continuing process and not a “once and for all” project.

Wilson and Jungner emphasized the crucial importance of their second criterion: “of all the criteria that a screening test should fulfill, the ability to treat the condition adequately, when discovered, is perhaps the most important .” We may also highlight the importance of the seventh Wilson-Jungner criterion, viz., that there must be an adequate understanding of the natural history of the disease . While not specifically formulated for pediatric screening, the Wilson-Jungner criteria have largely guided the practice of newborn screening over the past four decades. In an important 1974 paper on the principles that should govern pediatric screening, William K. Frankenburg summarized those principles as follows:

    The availability of a suitable screening test does not justify screening for a disease unless the disease is important, relatively prevalent, and amenable to early treatment. Screening for a disease which has the necessary characteristics cannot be justified unless there is an acceptable, reliable and valid test which can be carried out at reasonable cost.

    Screening which is carried out without knowledge and consideration of these criteria is likely to be wasteful of scarce medical resources and may actually do more harm than good.

Similarly, a 1994 Institute of Medicine (IOM) report on Assessing Genetic Risks recommended that “newborn screening only take place 1) for conditions for which there are indications of clear benefit to the newborn, 2) when a system is in place for confirmatory diagnosis, and 3) when treatment and follow-up are available for affected newborns.” In 1995, the American Society of Human Genetics (ASHG) and the American College of Medical Genetics (ACMG) issued a joint report affirming that “timely medical benefit to the child should be the primary justification for genetic testing in children and adolescents,” and this judgment was reaffirmed by a 1997 report by the NIH Task Force on Genetic Testing. In 2000, a report by the American Academy of Pediatrics stated that a condition is a good candidate for newborn screening only if “the treatment for the condition is effective when initiated early, accepted among health care professionals, and available to all screened newborns.” In all these statements of principle, direct benefit to the newborn child has been the paramount and indispensable criterion for inclusion of a disease in a uniform screening panel. To justify such inclusion, the natural history of the disease must also be well understood, the diagnostic test for its presence must be clear and precise, and an effective treatment must be available.

Despite this enduring consensus, the principle “screen only if you can treat” has not gone unchallenged. A 1975 report by a committee of the National Research Council (NRC, the working arm of the National Academy of Sciences) began by stating that newborn screening is appropriate when there is evidence that it provides “substantial public benefit,” i.e., benefit not limited to the timely and effective treatment of the infant's condition. The report went on to describe three forms of such benefit other than direct treatment: 1) to the infant (to provide management and support even when direct treatment is unavailable), 2) to the family (to inform subsequent reproductive decisions), and 3) to society (to provide knowledge of the true range and incidence of the condition). The NRC report entertained the notion that, under some circumstances, “screening should begin before any treatment is available.”

Meanwhile, in recent years some prominent figures in the world of newborn screening—including the Director of the National Institute of Child Health and Human Development (NICHD)—have openly attacked the principle that “it is appropriate to screen only for conditions for which effective treatment already exists” as a “dogma” that ought to be discarded. They favor a radically more expansive approach to newborn screening, in which all conditions—no matter how rare, poorly understood, or currently untreatable—are presumed to be eligible for screening unless specifically excluded on a case-by-case basis. At the same time, the NICHD is funding efforts to move beyond today's limited, phenotypic methods of newborn screening toward DNA-based platforms that can “offer enormous opportunities to identify staggering numbers of potentially pathogenic mutations in a very large number of disease-associated genes.” If the principle “screen only if you can treat” were discarded and if the technology of newborn screening were to shift primarily to DNA-based multiplex platforms such as gene chips or even whole genome sequencing, the stage would be set for a vast expansion in newborn screening, unconstrained by the principles that have guided newborn screening until now.  The new principle guiding newborn screening would then be “screen unless there is a compelling reason not to screen.”

II. Newborn screening today: the ACMG's expanded uniform panel

This brings us to the present moment, when the practice of newborn screening is undergoing rapid expansion throughout the United States in accordance with recommendations made by the American College of Medical Genetics (ACMG) in its 2005 report, Newborn Screening: Toward a Uniform Screening Panel and System . That document is the final report of an ACMG working group commissioned and funded in 2002 by the federal Maternal and Child Health Bureau (MCHB). The ACMG's task was to gather evidence as to the effectiveness of newborn screening, to recommend a uniform panel of conditions that ought to be screened for in every state, and to consider other critical components of the newborn screening system. In its report, the ACMG recommended that the state newborn screening programs adopt a uniform panel of twenty-nine core conditions, as well as twenty-five secondary conditions. Their recommendation was quickly endorsed by the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children in a June, 2005, letter to Michael O. Levitt, Secretary of Health and Human Services. Meanwhile, as of June, 2008, 49 of the 50 states had adopted virtually all of the ACMG's panel of twenty-nine core conditions; and most of the states had mandated screening for a majority of the twenty-five secondary conditions. As these numbers indicate, the states have moved remarkably quickly to implement a newborn screening system that is both considerably more uniform and considerably expanded compared to even a few years ago. For comparison, as recently as 2005, the states varied widely in their use of newborn screening tests, “with some mandating screening for as few as 3 conditions and others mandating as many as 43 conditions.”

As such, the question now before us is, what ethical principles are at work in the expansion of newborn screening recommended by the ACMG and implemented by most of the 50 states? In particular, is that expansion consistent with the classical principles that have governed newborn screening for the past forty years? Or has there been a break with those principles, and, if so, how radical a break? To answer these questions will require a close look at some features of the ACMG's complex and lengthy report.

Essentially, what the ACMG working group did in carrying out its mandate was to evaluate 84 heritable disorders for possible inclusion in a uniform, mandatory newborn screening program that all 50 states would be encouraged to adopt. After conducting a broad survey of expert opinion, the working group assigned a numerical score to each condition, with a high score indicating that the condition was a plausible candidate for mandatory screening. The 84 conditions were initially divided into three groups, composed of high-, middle-, and low-scoring conditions. In a second tier of analysis, each condition's initial ranking was reevaluated by a small number of experts, after which the conditions were assigned to one of three final categories: a core panel of conditions meriting mandatory screening (29 conditions); a secondary panel of conditions not meeting the standards of the core panel but deemed appropriate for screening anyway (25 conditions); and the remaining conditions, deemed not appropriate for screening at this time (27 conditions).

Now the methods by which the ACMG working group arrived at their recommended screening panels have been criticized on a number of grounds, leading some critics to conclude that the expansion of newborn screening is proceeding too rapidly and without sufficient caution. Some of these criticisms are presented in two of the Hastings Center Report articles that accompany this working paper. Here, however, our focus will be on two distinctive features of the ACMG's approach: their use of an expansive conception of benefit to justify newborn screening, and their readiness to allow progress in multiplex screening technology to dictate the pace and scope of the expansion of newborn screening. Let us first consider the principles the guided the composition of the ACMG's core and secondary screening panels.

A. The core or primary conditions

On a first reading, the ACMG report conveys a strong impression of having followed accepted screening principles in recommending its expanded uniform panel. Consider the following clear statement of a “basic principle developed at the onset of the project”:

    To be included as a primary target condition in a newborn screening program, a condition should meet the following minimum criteria:

      • It can be identified at a period of time (24 to 48 hours after birth) at which it would not ordinarily be clinically detected.
      • A test with appropriate sensitivity and specificity is available.
      • There are demonstrated benefits of early detection, timely intervention, and efficacious treatment.

Elsewhere the report affirms that, when evaluating a disorder for inclusion in the screening panel, “benefit to the child being screened is the overriding consideration.” Ultimately, the twenty-nine conditions included in the core panel were those that, in the judgment of the ACMG, met three final criteria. All of them had

    1.      Specific and sensitive screening tests;

    2.      A sufficiently well understood natural history; and

    3.      Available and efficacious treatments.

And indeed, a review of the twenty-nine conditions designated “core” or “primary” reveals that, in every case, the ACMG working group concluded that effective treatment was available that could prevent all (4 conditions), most (10), or, at any rate, some (15) of the disease's symptoms; they also determined that there was clear (14) or some (15) evidence that treatment would benefit the affected newborn. Finally, for twenty-five of the twenty-nine core conditions, the ACMG concluded that the available treatment was efficacious at preventing mortality, independent of any reduction in morbidity.

Whether all twenty-nine of the core conditions do actually meet the chief criterion—the availability of an effective treatment that will clearly benefit those newborns who test positive for the condition—is certainly open to debate. Nevertheless, on first inspection, the ACMG's recommended panel of twenty-nine core conditions would seem to conform, at least in aspiration, to the Wilson and Jungner criteria.

B. The secondary conditions

The ACMG report also recommended mandatory screening for twenty-five “secondary” conditions that did not meet the three numbered criteria listed above for inclusion among the core conditions. More precisely, these are conditions that, despite the availability of a specific and sensitive screening test, lacked either a well-understood natural history or an efficacious treatment or both. Why then were they recommended for mandatory screening?

When first introduced in the ACMG report, the secondary conditions are described as “conditions that are part of the differential diagnosis of a core panel condition.” What this means is that some core conditions, in order to be diagnosed with precision, require the gathering of data that would also reveal the presence in the newborn of one or more other conditions—conditions whose natural history is poorly understood or for which effective treatment is not currently available. The necessity of screening for these secondary conditions would therefore seem to be a mere accident of the testing protocol, an unintended consequence of the determination to screen for the core conditions. The ACMG working group concluded that positive results for these secondary conditions ought to be reported by the laboratory to the health care provider and to the family of the infant, presumably on the grounds that clinically significant results, once obtained, could not ethically be withheld from the newborn ' s physician and parents.

 So far, at least, it would seem that the recommendation to screen for a panel of secondary conditions—poorly understood or not clearly treatable or both—is merely an artifact of the way some primary conditions are detected, an unfortunate necessity that would be avoided altogether if there were a way to screen only for the primary condition. But it turns out that only twenty of the twenty-five secondary conditions were included in the panel on this basis. When spelled out fully, the ACMG's standard for including a condition in the secondary panel is that the condition must be either “ part of the differential diagnosis of a primary target conditionÓ or merely Òapparent in the result of the multiplex assay.Ó In fact, five conditions were evidently added to the secondary panel on this less stringent basis. Each of these five conditions is very far from meeting the classical standards for inclusion in a newborn screening program.

For example, one of the five is the fatty acid oxidation defect Dienoyl-CoA reductase deficiency (DE-RED). The incidence of this disorder is unknown, but it must be extremely rare, as only one case of it has ever been reported. It is therefore impossible to be certain whether the symptoms exhibited by that one infant were coincidental or caused by the genetic defect. The ACMG report comments that “the sensitivity and specificity of the primary marker are also unknown,” as are the availability, cost, and potential efficacy of treatment. DE-RED is not detected as part of the differential diagnosis of any other condition; nonetheless, simply because it is possible to detect DE-RED using tandem mass spectrometry (MS/MS), the ACMG report recommends that DE-RED screening be included in the mandatory (secondary) screening panel in all 50 states. As of June 2008, newborn screening for DE-RED is mandated by law in sixteen states.

C. The significance of multiplex screening platforms

To understand why these five rare and poorly understood conditions were included in the ACMG's secondary target category, it is necessary to go a little more deeply into the technology of present-day newborn screening. While some conditions that are candidates for newborn screening are identified by way of unique testing methodologies, many can be detected using multiplex platforms that screen simultaneously for several conditions. Of the twenty-nine core conditions, twenty-three are identified using multiplex platforms: MS/MS for the six amino acid disorders, the nine organic acid disorders, and the five fatty acid oxidation disorders; and either high pressure liquid chromatography (HPLC) or isoelectric focusing (IEF) for the three hemoglobinopathies. Only six of the core conditions require unique “singleton” tests. Of the twenty-five secondary conditions, all but two are detectable using multiplex platforms. The two conditions are included in the secondary panel because they are a part of the differential diagnosis of the primary target Galactosemia (GALT).

The ACMG report emphasizes the virtues of multiplex screening technology:

    Particularly notable is the implementation of multiplex platforms that allow a single type of specimen preparation and simultaneous (or nearly simultaneous) screening for multiple different disorders. Going from one test for one disorder to one test for multiple disorders has the potential to reduce costs per condition tested and can lead to test expansion if these new technologies can be integrated safely and effectively into newborn screening programs.

The report notes that, with some multiplex platforms, the screener must select specific targets for inclusion in the test (this is known as “selective reaction monitoring” or SRM), while for others the test automatically screens for multiple targets without the need for specific target selection (this is known as “full profile testing”). MS/MS in particular can be used in either selective or full profile mode. Selective monitoring means using the multiplex platform to target only those conditions deemed appropriate for screening ; in contrast, the full profile approach means making maximum use of the technology's information-gathering powers, without regard to the distinction between appropriate and inappropriate target conditions .

Remarkably, the ACMG report makes a forceful case that, whenever possible, MS/MS screening should be carried out in full profile mode. The report gives several reasons for this judgment, one of which is simply that “the use of MS/MS profiles allows for the maximal use of the technology for the identification of clinically significant conditions.” Elsewhere the report extols “the inherent value of multiplex technologies to public health.” But why should “maximal use of the technology for the identification of clinically significant conditions” be considered inherently good, when some of the conditions that will be detected are considered inappropriate for screening? Here is the report's answer to that question:

    Although information about conditions for which treatment options are scarce or not yet reported can lead to increased stresses on families and the health care system, early information can also lead to knowledge of the condition for the family, thus avoiding a potential diagnostic odyssey or inappropriate therapies. In addition, early information provides opportunity for better understanding of disease history and characteristics, and for earlier medical interventions that might be systematically studied to determine the risks and benefits . Multiplex testing and the identification of conditions falling outside of the uniform screening panel provides the opportunity for such conditions to be included in research protocols .

In other words, screening for a condition that fails to meet the classical criteria can be justified under an expanded conception of benefit that includes not only helping the family avoid “the diagnostic odyssey” but also helping society by providing opportunities for biomedical research aimed at understanding the natural history of the disorder and finding an effective treatment for it.

D. Expansive conception of benefit

The ACMG's emphatic preference for the use of multiplex platforms in “full profile” mode is thus indicative of an expansive conception of benefit that could justify screening for a particular condition. Traditionally, as we have seen, the only relevant benefit was understood to be the benefit to the infant of a timely and effective treatment for a serious illness. The ACMG report, on the other hand, is quite explicit in embracing an expansive notion of public benefit , not limited to direct treatment of the child. In assessing each testable condition for inclusion in the uniform panel, the authors of the ACMG report gave “overriding consideration” to benefits of early intervention for the individual screened (chiefly when there is a known and effective treatment), but they also gave weight to “benefits of early intervention for family and society”:

    Families could benefit from establishing that there may be a genetic risk to others in the family. Society could benefit by a reduction in medical diagnostic odysseys that are costly to the healthcare system.

Elsewhere, the report makes clear that the societal benefits of newborn screening include the opportunity for progress in biomedical research : note the phrase “understanding prevalence and natural history” in Table 2 on page 44, as well as the earlier reference (p. 20, cited above) to the “opportunity for better understanding of disease history and characteristics, and for earlier medical interventions that might be systematically studied to determine the risks and benefits.” It seems clear that, in extolling the virtues of multiplex platforms and in calling for their use in “full profile” mode—even when some of the conditions detected are rare, poorly understood, and as yet untreatable—the ACMG working group was thinking expansively about benefits to family and society, and especially about the value of studying rare and obscure disorders in order to understand them and to find an effective treatment . As Nicholas Wald has commented (in response to the Alexander-van Dyck paper cited in footnote 11 above): “this is not what most people expect from screening. They expect a personal benefit, not to be a potential candidate for a research study.”

E. Impact of expansive conception of benefit on the ACMG recommendations

It makes sense to ask what was the actual impact of this expanded conception of benefit on the ACMG's final recommendations. That impact can be seen in two different places: in the initial scoring of the conditions that assigned them to one of three categories (low-, middle-, and high-scoring), and in the way certain conditions found their way into the secondary panel.

When surveying expert opinion for the initial ranking of the 84 conditions that were candidates for screening, the ACMG asked a series of questions and assigned points to each condition based on the answers of hundreds of experts. With the most favorable answers from the experts, a condition could score a maximum of 2100 points. Of these, up to 700 points were awarded to a condition for attributes of the condition (incidence, burden if untreated, benefits of intervention, etc.), up to 700 points for attributes of the screening test (sensitivity, specificity, multiplex versus singleton, etc.), and up to 700 points for aspects of treatment and management (availability, cost, efficacy, etc.). Among many other criteria, up to 200 points were awarded to a condition for evidence of “individual benefits of early intervention.” But up to 100 points were awarded to a condition for evidence of “family and societal benefits of early intervention.” Moreover, another 200 points were awarded to a condition just for being detectable using a multiplex platform , and 50 additional points were awarded to condition if, in the course of detecting it, other conditions were also identified. In other words, a condition might well be bumped up to the middle- or even to the high-scoring division despite showing scant evidence of benefit to the newborn child.

After the initial scoring, the 84 conditions were reevaluated using a decision tree that is depicted in Figure 9 of the ACMG report (and reproduced below). High-scoring (>1,200) conditions were added to the core panel if, on further review, experts determined that a treatment was available and necessary and that the natural history of the disease was well understood. But high-scoring conditions for which there was no treatment still ended up in the secondary panel if they were part of the differential diagnosis of a core condition, or even if they were merely detectable as part of a multiplex assay in full profile mode. If a treatment was available but the natural history of the disease was poorly understood, the high-scoring condition still ended up in the secondary panel. And indeed, the report notes that three conditions that initially scored high on the survey “were moved to the secondary target category on the basis of scientific evidence indicating that the natural history was not sufficiently well understood.” In other words, the lack of an effective treatment or of an adequate understanding of the disease's natural history (or both) was not sufficient to remove a condition from the mandatory screening panel; it merely led to the disease being classified as a secondary rather than a primary target.

Meanwhile, middle-scoring conditions (1,000-1,200) were added to the secondary panel as long as they were part of a differential diagnosis or were detectable by multiplex assay. And even low-scoring conditions (<1,000) were to be bumped up to the secondary panel if they were detectable in a multiplex assay.

Chart on Newborn Screening

(Figure 9 from the ACMG's Newborn Screening report, p. 121)

F. Significance of the ACMG recommended screening panel

In considering this decision-making process, it is important to bear in mind that whether a state program mandates screening for a condition as part of the core panel or part of the secondary panel makes no practical difference as far as the infant and family are concerned. Assuming that a state screening program embraces the ACMG's recommendation of mandatory screening for both primary and secondary conditions (and most states seem to be on their way to doing so), a positive screening result will be reported out to the physician and the family regardless of which target category the condition happened to be included under. With this in mind, the ACMG report's decision tree seems to depart much more radically from classical screening principles than it first appeared to do.

As noted above, the twenty-nine core conditions were each judged by the ACMG to meet the traditional standard of having 1) a specific and sensitive screening test, 2) a sufficiently well understood natural history, and 3) an available and efficacious treatment. Moreover, for twenty of the twenty-five secondary conditions, screening could be considered justified on the grounds that it was necessary for the differential diagnosis of one of the core conditions. Only five exceedingly rare conditions were added to the secondary panel without that compelling justification. Seen in this light, the expansion in newborn screening recommended by the ACMG looks rather moderate and fairly consonant with accepted screening principles.

But a careful examination of the ACMG working group's decision tree—and, above all, of its procedures for adding conditions to the secondary panel—makes it clear that the foundations have been laid for a much more radical expansion of newborn screening in the future, and for a significant loosening—not to say abandonment—of the traditional screening standards. Under the ACMG's procedures, a rare and poorly understood genetic condition, even one with no available treatment, will routinely be added to the secondary target panel (recommended for mandatory screening in all 50 states) as soon as it becomes possible to detect that disorder using a multiplex assay in full profile mode. Even if only a handful of conditions have so far qualified for the secondary panel under that rubric, it is clear that many more conditions could be added to the panel in the future, especially if rapid progress is made in the exploitation of DNA-based multiplex screening platforms, with their potential to detect hundreds of thousands of genetic abnormalities at one stroke.  In short, it seems fair to conclude from a careful reading of their report that the ACMG working group has effectively institutionalized mandatory newborn screening for two categories of condition: the relatively small number of treatable and well understood disorders that satisfy the classical Wilson-Jungner criteria, and the potentially much larger set of untreatable and poorly understood disorders that fall short of those criteria but are detectable by multiplex profiling. If the chief purpose of screening conditions in the former category is to benefit the affected newborn with timely and effective treatment, the chief purpose of screening conditions in the latter category would seem to be to advance the scientific study of the disorder, with the ultimate goal of finding a treatment. That is certainly a laudable goal, but as a basis for including conditions in a uniform newborn screening panel it represents a sharp departure from accepted principles of screening. Hitherto, for diseases that were poorly understood or for which no effective treatment was available, we as a nation have not been in the habit of subjecting individuals to mandatory screening merely for research purposes. 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.  

III. The contribution of the President's Council on Bioethics

The Council's purpose, in publishing a White Paper on newborn genetic screening, is to encourage thoughtful public discussion of serious ethical issues that have already arisen and that are likely to become only more urgent and perplexing as newborn screening relentlessly expands, as it seems destined to do in the United States. If the ethical principles that have hitherto restrained the expansion of newborn screening are to be altered or abolished, that is a decision that should be made deliberately and with full awareness of its implications and consequences. The availability, in the not too distant future, of affordable DNA-based multiplex genetic screening platforms will make possible a vast expansion in the number of genetic conditions that can be detected simultaneously with a single assay (in full profile mode). In the meantime, the protocols for expanding newborn screening that were recently recommended by the ACMG, and that are now being implemented by most of the states, appear to have quietly instituted a revolution in the principles of newborn screening. Alongside the traditional purpose of newborn screening—direct medical benefit to the infant suffering from an illness—a new purpose has been elevated and made authoritative: the advancement of scientific research in order to understand rare disorders and develop treatments for them.

Accordingly, the Council's White Paper will offer to the interested public, first, a useful overview of the practice of newborn screening today; second, an account of the ethical principles that have guided newborn screening until now, together with an investigation of how those principles are being altered (the present working paper); and third, a forward-looking exploration of ethical challenges that are likely to accompany the expansion of newborn screening as we enter the age of personalized genomic medicine.

At the June 2008 meeting, Council members will be challenged to discuss the following question, which captures the arguably central ethical issue engendered by the expansion of newborn screening:

    For 40 years there has been a consensus that infants should be screened at birth only for conditions for which an effective treatment already exists. Now, however, state newborn screening programs are expanding rapidly, and the principles guiding that expansion permit conditions to be added to the screening panel chiefly to advance medical research, even in the absence of an effective treatment.  Is this loosening of the standards for adding conditions to the newborn screening panel a good idea? Is the traditional rule—“screen only if you can treat”—an outdated dogma that ought to be discarded, or a sound principle that ought to be preserved?

The results of this discussion will, of course, help to shape the final content of the Council's White Paper on newborn screening.  In keeping with past practice and the Council's reports to date, any Council member may contribute a personal statement that expresses his or her views on this question or, for that matter, any other ethical issue(s) in newborn screening.

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