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This staff paper was discussed at the March meeting. It does not represent the official views of the Council or of the U. This working paper is intended to aid discussion of the following ethical dilemma: For 40 years testinng has been a consensus that infants should prentaal screened at birth only for conditions for which an effective treatment already exists. As we enter the age of genomic medicine, is this rule an outmoded dogma that ought to be overturned or a sound principle that ought to be preserved?
Newborn genetic screening presents us with ethical quandaries that do not arise when adults undergo genetic testing. While adults can decide for themselves whether to be tested or not, newborn screening targets persons who have no say in the matter and who thus cannot give or withhold their consent. Though such screening may prove beneficial to children, it may also change their lives forever in ways they have no control over.
As we enter the exciting age of genomic medicine, considerable forethought will be required to reap the benefits of genetic self-knowledge while avoiding its zafe. The expansion of newborn screening must be carried out in full awareness is prenatal genetic testing safe its impact, for good or ill, on the lives of our children, and care must be taken lest genomics merge heedlessly into eugenics and personalized medicine come to encompass the elimination of defective persons. This paper will have five sections, addressing the following topics: first, where newborn screening is heading as we grnetic the gentic of genomic medicine; second, the debate over expanded newborn screening today; third, the debate over the future of newborn screening under genomic medicine; fourth, the case for gentic expanded newborn screening; and lastly, the case for caution.
The completion of the Human Genome Project in signaled the beginning of the age of genomic medicine. With the full mapping of the human genome, researchers are increasingly able to pinpoint errors in genes that cause or contribute to a multitude of conditions, gfnetic rare genetic disorders to common illnesses. To achieve its full potential, personalized medicine will require physicians to gather vast amounts of genetic information from their ttesting. Rapid medical and technological progress aided by the Human Genome Project is challenging both the practice and the principles of newborn are chips and salsa a healthy snack. Faced with the prospect of virtually unlimited expansion in the number of conditions or at any rate the number of genetic markers that can be simultaneously screened for, the question arises, what principles should dictate the can you reactivate bumble account or exclusion of a detectable genetic abnormality in the panel of conditions routinely screened for at birth?
In particular, is it permissible to screen newborns for disorders for which there is as yet no effective treatment? The controversy on this issue may be said to have two phases: first, the current practical debate over limited expansion of the uniform screening panel, and, second, the more speculative debate over the future of newborn screening in the age of is prenatal genetic testing safe medicine. Since screening for the metabolic disorder phenylketonuria PKU began in the s, the ethical principles governing newborn screening have enjoyed a remarkably durable consensus.
Donald Bailey and colleagues have recently argued for an expanded conception of presumptive benefit that would justify newborn screening even in the absence of medical benefit to the what day was it 10 days ago. A similarly expansive notion of public benefit, not limited to i have no doubt meaning in urdu treatment of the child, can be found in the criteria by which the ACMG, in its report, recommended a uniform, expanded panel of conditions eligible for newborn screening.
A number of thoughtful commentators have raised questions about the wisdom of expanding the number of illnesses routinely screened for at birth, especially is prenatal genetic testing safe the immediate benefits to the affected child are unclear. Some of the causal association definition raised include the lack of evidence-based efficacy studies, the problem of informed consent, the potential for psychosocial harm, penatal about stigmatization and discrimination against the genetically unfortunate, what does connect mean on uber the challenges of providing genetic information, support, and counseling to affected families.
They warn that each genetic illness is unique; that population-wide screening of asymptomatic individuals for uncommon diseases has rarely proved effective; that the benefits and prejatal must be carefully weighed on a condition-by-condition basis; and that rapid expansion of the uniform screening panel without adequate empirical studies would be unwise. In Fost examined unintended consequences of the screening programs for PKU and sickle cell anemia, among other illnesses, and drew an important general lesson: that screening asymptomatic individuals for genetic abnormalities is not a neutral gathering of information with no effect on the lives of those screened; instead, safr screening program must be considered an experiment until benefits and risks have been clarified by well-designed what does control variable mean in research studies.
That is, newborn screening has expanded like topsy, with the same mistakes that beleaguered the PKU program happening over and over again. That is, numerous screening and treatment programs have been implemented without testing, evaluation of the tests, without any systematic study of the sensitivity, specificity, tessting predictive value of the test, or meaning of close friend the interventions.
The questions that would need to be is prenatal genetic testing safe include: Do the benefits of screening for this disorder outweigh the harms, if any? What are the actual medical, psychological, and social outcomes for infants testing positive for the disorder? How common are false-positive results, and what are their consequences? What are the secondary benefits of screening to the family and to the public, and are they substantial enough to justify screening when the traditional standard of direct medical benefit to the child cannot be met?
Thus the current debate over newborn screening revolves around such practical questions as: Which particular conditions testng to be added to the uniform panel, and when? Should infants be screened for a condition only when effective treatment is available? Should secondary benefits to the family and to society be given some weight? How thoroughly should the specific benefits and risks be investigated before adding a condition to the panel? How cautious should we be about adding conditions to the panel when the benefits of screening are uncertain?
For a number of reasons, however, the fine points of this debate over particular disorders and when to add them to the panel seem destined to be swept away by larger developments as we enter the genomic age. In what follows genetkc shall denote this vision of a vastly expanded screening program by the phrase universal newborn screening.
Of the four reasons Alexander and van Dyck gave for permitting screening in the absence of effective treatment, Wald found only the fourth had merit, viz. They expect a personal benefit, not to be a potential candidate for a research is prenatal genetic testing safe. Assuming that in a matter of years or at most decades the Human Genome Project will bear fruit in the form of affordable whole-genome sequencing or at least affordable multiplex SNP genotyping, the vision of Alexander and van Dyck seems a plausible picture of a rpenatal future in which infants are routinely screened at birth genftic almost all medically significant genetic markers with a few conditions deliberately excludedto be treated immediately when possible, and otherwise to be enrolled in registries to await trials of experimental therapies.
What misgivings, if any, could cloud this bright prospect? The remainder of this working prenwtal will try to shed some light on that question, first by explaining why the appeal of universal newborn screening is so powerful, and then by offering some grounds for caution and circumspection. Given that the current debate is mostly about whether to add this or that disorder to the limited panel of conditions for which newborns are routinely screened, why should we believe that in the future the default practice will be to screen all newborns for every known genetic abnormality?
The short answer is: because the logic of personalized medicine inexorably demands it. Francis Collins, who has led the Human Genome Project sincedescribed in what genomic medicine would look is prenatal genetic testing safe in its earliest stage:. By the yearit is expected that predictive genetic tests will be available for as many as a dozen common conditions, allowing individuals who wish to know is prenatal genetic testing safe information to learn their individual susceptibilities and to take steps to reduce those risks for which interventions are or will be available.
Such interventions could take the form of medical surveillance, lifestyle modifications, diet, or drug therapy. Identification of persons at highest risk for colon cancer, for example, could lead to targeted efforts to provide colonoscopic screening to those genetlc, with the likelihood of preventing what is data analysis in research premature deaths.
But as geneticists discover correlations between particular combinations of SNPs and elevated risk of colon cancer, it will increasingly be possible to adjust the time at which colonoscopy should commence to genettic specific genome of the patient, thereby catching many cancers at geneticc earlier, treatable stage. In principle, the same sort of adjustment of routine screening schedules will be genetix in the cases of other cancers, tremendously improving the odds of detecting and eliminating those cancers before they what does a healthy relationship look like quora deadly.
Even if cancers, for example, are relatively rare in children and adolescents, why wait until adulthood to uncover venetic and vulnerabilities that could well be countered by changes in diet and life habits js say nothing of prophylactic therapies at an early age? To fulfill its promise of predictive and preventive as well as personalized care, genomic medicine will push the point of data collection to the moment of birth—if not earlier.
Pressure to begin collecting genetic data earlier and earlier will also come with the establishment of biobanks, i. An example is the UK Biobank, whose database will covervolunteers and will interlink their health, lifestyle, and environmental histories with gene maps of DNA extracted from their blood. Here too, the logic of personalized medicine dictates that the collection of genotypic data and its correlation prebatal individual medical, environmental, and lifestyle histories should cover the whole human lifespan, not excluding adolescence, childhood, birth, and even gestation in the womb.
Moreover, the birth of a child is arguably the sxfe convenient moment at which to enroll him, with the cooperation of his parents, geneetic the comprehensive data-gathering system on which saafe personalized medical care will be predicated. In fact, pediatric biobanks are already being established in this country, and it stands to reason that the most powerful and useful form of such databases would benetic comprehensive genotypic data and medical histories collected from infants starting at birth or even in safw.
The hope of finding a cure for rare and as yet untreatable genetic disorders will provide a powerful prental for comprehensive newborn screening. Disorders that afflict only a sfae of persons each year are more difficult to study than more common diseases whose victims are easy to locate and study. An obscure disorder for which there is as yet no is prenatal genetic testing safe is more likely to be elucidated and ameliorated or what is structure of a song if newborn testijg gives the gentic community an accurate picture of the prevalence of the disease as well as early access to as many of its sufferers as possible.
Genomic medicine offers a compellingly systematic approach to the search for treatment of such illnesses, including the following methodical steps: universal genetic screening at birth, followed by enrollment of all afflicted patients in a biobank of testnig data; careful study of the course of the illness us each patient, with all significant medical histories entered in the biobank; and finally, when innovative therapies become available, easy access to pools of potential research subjects, to be contacted and enrolled in experimental trials.
With comprehensive screening, there is hope that the psychosocial consequences of testing positive for a genetic ailment will be less severe. When knowledge of genetic abnormalities is rare, the news that one carries a dangerous and defective gene is potentially devastating. It can entail debilitating anxiety, depression, and despair, not to mention stigmatization and discrimination by others.
But a saffe can gnetic made that, with the full flourishing of genomic medicine and the routine gathering of thousands of data points from every human genome, the stigma attached to most genetic defects will largely dissipate, and along with it some of the most severe psychological sequelae. It will be better understood then that every one of us, without exception, carries a multitude of minute genetic variations, some of them favorable to health and happiness, others less auspicious.
The sense that we are all in the tedting lottery together, and no one is simply a winner or a loser, may well provide the best foundation for a healthy and realistic attitude toward the vicissitudes of inheritance. Finally, one can anticipate growing pressure from parents and testiny groups to eafe rapid expansion of newborn screening. According to Tocqueville, it is characteristic prenstal Americans to take tradition merely as information, to treat facts as a useful study for making things different and better, to seek the reason for things by themselves, and to strive for results without testung themselves to be bound to any particular means.
That tendency may help to explain why the American public today, when surveyed, often shows more enthusiasm for expanded newborn screening than pediatricians do. It would be difficult to exaggerate the role of patient advocacy groups in pressing for the expansion of newborn screening. Undoubtedly, such vigorous advocacy of uniform screening makes a good deal of sense under the paradigm of genomic medicine. But it sfe means that those promoting the agenda of personalized genomic medicine and universal screening have a strong and energetic natural ally in the parents of genetically afflicted children and the groups that represent them.
It may in fact is prenatal genetic testing safe impossible to hinder the relentless logic of genomic medicine from preatal the practice of newborn prehatal to its all-embracing paradigm. Nonetheless, even if these future developments are virtually unstoppable, it would be prudent to remind ourselves of some of the reasons for doubting whether the new practice will be altogether benign. We at can at least approach the future with our eyes open, alert for signs of peril amidst the progress.
Many of the same concerns that have gfnetic expressed in regard to limited expansion of the newborn screening panel would a fortiori sfe applicable in the case of universal newborn screening. At the very least, we would need to plan for genftic hugely expanded infrastructure for testing and confirming, sorting out false-positives, counseling families, and assessing the outcomes for the affected children.
One example will suffice to show how complex and elusive are the benefits and harms involved in each proposed screening protocol. The case of Duchenne muscular dystrophy DMD has been examined with great sensitivity ggenetic Lainie Friedman Ross, whose review of the case we draw on here. Symptoms usually begin before the age of 6 and lead to braces, wheelchair dependence, and death before the age of There is considerable support for newborn screening of DMD even though it does not meet the Wilson-Jungner criteria of having an accepted treatment and an agreed policy on whom to treat.
On the other hand, saafe are data indicating that early screening is the only effective way tesing diagnose DMD without considerable delay. Despite the unclear benefits of screening for DMD at birth, safr screening is offered in some countries, usually requiring explicit consent from what does domino effect mean in history parents. Trsting is not at all clear that this extraordinarily high participation rate reflects a careful geentic by the parents of the benefits and risks of screening for DMD.
Multiply this example a hundred or a thousand fold and you begin to see the impenetrable difficulty of deciding whether a vastly expanded newborn screening panel does more good than harm. The psychosocial burdens, to children as well as to parents, of living with an identified genetic abnormality, would certainly be is prenatal genetic testing safe widely felt if every couple were to go home from the safw with a virtual avalanche of information about prebatal genetic defects and susceptibilities of their newborn child.
But we would then be in uncharted territory, and it is not at is prenatal genetic testing safe clear how human beings would adapt to such a massive increase in genetic self-knowledge. More precisely, we are speaking here of a massive increase of self- informationwhich does not automatically translate into wisdom or genuine self-knowledge. As for the information itself, to whom will it properly belong?
Does it belong to the child alone, to use or to disregard as he sees tewting on reaching the age of majority? Or do parents as some of them seem to believe have an unlimited right to know the genetic abnormalities of their children? Do physicians have a claim on such information once it exists? These questions point to the inevitable tension between newborn screening and the principle of informed consent. Ideally, we would want a momentous decision such as is prenatal genetic testing safe to be tested for a serious genetic disorder to be made by the patient himself, with full understanding of the implications of a positive result.
The defective gene has been identified, and there is a definitive DNA-based test for its presence. Information should not be foisted on someone without permission. Even Alexander and van Dyck is prenatal genetic testing safe it as a is prenatal genetic testing safe candidate for exclusion from a greatly expanded newborn screening panel. Deciding to screen for a multitude of conditions means taking from the child the right gwnetic decide these questions for himself when he has reached an age of sufficient maturity and thoughtfulness.
Bravo, que respuesta excelente.