Newborn Screening: Ethical and Policy Challenges

In the late 1960s the United States and other countries began to do ―universal newborn screening,‖ primarily as a result of the work of Dr. Robert Guthrie, a microbiologist. The term ―universal‖ denotes that every newborn infant was screened by taking a small sample of blood. Infants were screened for rare metabolic disorders that if treated immediately avoided devastating health consequences (an early death or profound neurological disabilities), e.g. phenylketonuria (PKU). PKU is an autosomal recessive inborn error of metabolism with an approximate incidence of one case in 15,000 births. Infants with this disorder are unable to process phenylalanine, which leads to severe mental retardation, seizures, and other neurological problems all of which can be avoided with the introduction of a very special diet shortly after birth. This is the beginning of the ethical and policy issues we address in this essay. In the US several hundred infants are born each year vulnerable to PKU. We emphasize that the dietary intervention designed to address PKU is completely effective in preventing otherwise devastating consequences. It is difficult to imagine any caring rational parent refusing the ―heel stick‖ that takes the few drops of blood needed to do this screening. Consequently, informed consent has not been part of doing this blood draw. Parents are often (not always) told why blood is being drawn, but they are not asked to give permission. From the perspective of public health authorities this seems reasonable since there are no risks to the child from the blood draw and this intervention clearly protects the best interests of each potentially ill child. Over the next several decades a small number of other screening tests were added as medical research identified more of these metabolic disorders that were rare and that needed prompt medical intervention to prevent otherwise devastating health consequences. Initially, cost was an issue since each test for each disorder was distinct, but in the 1980s a new technology was introduced, tandem mass spectrometry, which permitted doing dozens of these tests all at once. This technology was widely disseminated by the turn of the century. In just a few years after that the number of conditions for which we screened jumped from ten to fifty. Those inherited conditions now included endocrine, hematologic, and expanded metabolic disorders. From an ethical perspective making newborn screening mandatory for PKU was clearly morally defensible because of both the certainty of the disastrous medical consequences and the availability of an effective therapeutic response. However, for some number of the newborn screening tests that have been added to the panel over the past several decades we have neither the certainty of the disastrous medical consequences nor the assuredness that an effective therapeutic response was available and affordable. We have discovered of late that (as with many medical disorders that are genetically linked) there are degrees of expression, both in terms of a span of time and degrees of seriousness. Hence, an infant might test positive for one of these disorders, but then the disorder might not actually manifest itself for this infant until the third, fifth or sixth decade of life (or never). If the relevant therapeutic intervention were very cheap and very safe (no matter what the actual disease expression might prove to be), then we could in good conscience provide the therapy no matter what. However, some of these therapies will themselves prove deadly for infants that are not imminently vulnerable to some specific disorder. Another large problem is the false positives connected to the screening process. Approximately 4,000 infants each year in the US are identified correctly as being afflicted with one or another of these very rare disorders. However, approximately 12,000 false-positive results are obtained as well. Correcting this error may take anywhere from several weeks to several months. This can cause considerable anxiety in the minds of parents. It’s tempting to treat this outcome somewhat casually; perhaps thinking that a little anxiety is a small price to pay to save 4,000 infants. But the anxiety is not a trivial matter. Parents in these circumstances are faced with the immediate decision of whether or not to start some treatment needed to save the life of the infant or to prevent irreversible neurologic damage when it might turn out that the treatment itself could be harmful if their infant is not a true positive. Should our conclusion be that we should require explicit informed consent from parents for these tests? This would be extraordinarily time-consuming (and this not morally trivial when you consider how limited professional time is for caregiving). If we put that concern aside for the moment, are there other moral costs associated with seeking explicit informed consent for newborn screening? The short answer is that many parents who were just somewhat risk-averse might say, ―There is only a very remote chance that our baby would have any of these disorders. Why risk the anxiety of a false positive result? Skip doing the newborn