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Screening Newborn Screening

New Report from Bioethics Council: Cautious or Antiscientific?

It’s been so long since science got any respect from the Bush Administration that I, for one, find myself a bit brazen these days in my willingness to defend all things scientific. As a science guy, I feel like the parent of a kid who’s been bullied all term: You take one more swing at my kid and I’m gonna let you have it.

That at least was my initial stance as I started to read the latest report from President George W. Bush’s President’s Council on Bioethics. “The Changing Moral Focus of Newborn Screening” focuses on something that happens to virtually every newborn in this country, typically with little or no knowledge of the exhausted and usually delighted parents—the quick prick of the baby’s heel with a lancet and the collection of a few drops of blood to screen for hidden genetic defects.

Such tests have saved countless children from awful outcomes by, for example, informing parents that their child has a rare, invisible, metabolic glitch that, if left unaddressed, would result in mental retardation or other serious problems but that can be completely averted with proper dietary adjustment. The Council’s report offers a solemn warning, however, that this practice has quietly expanded in recent years to include dozens of inherited ailments, including some for which no treatment yet exists and others that may occur later in life and cannot be prevented. This expanded testing is done on the same tiny sample of blood with no added medical risk to the child. Yet the report concludes that many of these tests should probably not be done because they offer no direct benefit to the child. Rather, the potential benefits accrue to society in general, in the form of new knowledge about health, disease, and genetics.

Broad genetic testing could cause real harm, the Council warns. Parents might worry unnecessarily if a test comes up positive. Gene testing could even speed the arrival of a new era of eugenics in which people are discriminated against, or fetuses aborted, just because of the patterns in their genes.

“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?”

As I said, I am more than a little sensitized to science-bashing these days, so my first reaction upon reading this was to ridicule the writers as overwrought hand-wringers. And, it turns out, some members of the President’s Council had the same reaction. The report ends with an appendix of “personal statements” written by various Council members, and one such statement makes for a particularly remarkable read. It was jointly penned by Michael Gazzaniga, a professor of psychology at the University of California, Santa Barbara, and Floyd Bloom, a neuropharmacologist at the Scripps Research Institute in La Jolla, California.

Gazzaniga and Bloom decry the report’s heavy focus on the potential negative outcomes of broadened genetic screening, including the report’s pedestrian declaration that “there is…the possibility that such knowledge will be misused or misinterpreted.” Isn’t that true of all new science, they ask?

Is it always anti-intellectual to want “not to know”?

They also find some language in the report to be “anti-intellectual.” For example: “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. The truth of this supposition remains in doubt as we lift the lid of the Pandora’s box of our genomic inheritance.” To the report’s similarly ostrich-like warning that U.S. newborn screening “seems to be heading into uncharted territory,” Gazzaniga and Bloom rhetorically respond: “Should Lewis and Clark have stayed home?”

Yet even I have to wonder if Gazzaniga and Bloom are perhaps going too far in their argument. I wonder if by defending current newborn testing trends in the name of intellectual freedom they may be saving the bath water along with the baby.

Of course we don’t want fear of possible negative consequences to keep us from pursuing the unknown. But is it always anti-intellectual to want “not to know”? Some people may want to know everything there is to be known about their medical future, including what will kill them and when. Others may prefer a few surprises, for any number of reasons—especially when that information is uncertain. I am concerned about a presumption that people should want to know such stuff, and the corollary presumption that anyone who does not pursue such knowledge is either a Luddite or, worse, a burden on society.

Now, it is difficult to argue against routine testing for the genetic underpinnings of diseases that can be prevented or that will take less of a toll when treated early. A few decades ago those were the only diseases anyone tested for. But as the Council report documents, the rules have stretched considerably, sometimes with the dubious rationale of gaining generalized knowledge for society.

“We as a nation have not been in the habit of subjecting individuals to compulsory screening merely for research purposes,” the report says. It’s an idea that Gazzaniga and Bloom belittle as “anti-scientific thinking,” saying in their personal statement that the phrase “‘compulsory screening’ depicts a far more invasive procedure than the sampling of heel stick … while ‘merely for research purposes’ greatly diminishes the fundamental quest for self-knowledge.”

Yet as they well know, even low-risk research cannot ethically be done on people—especially children—without informed consent (by the parents in the case of minors), and there are real questions about whether whatever consent is being collected from labor-stressed mothers can rightly be counted as informed at all. At the heart of the issue: even if states have technical avenues by which parents can opt out of certain newborn tests—the ones for genes or diseases that nothing can be done about anyway—are there practical means for those parents to learn of this right and take advantage of it?

Finally there is the issue of false positives, which are common in most screening programs since screening tests are designed to err on the side of catching every case. In 2007, the Council report notes, some 3.4 million U.S. infants were tested for maple syrup urine disease, a metabolic disorder. Of those, 1,249 were positive. But upon further testing, just 18 were confirmed; the other 1,231 were false positives.

Ultimately, the parents of those children got the right answers. But speaking as one who has lived (second-hand) through a pregnancy in which the developing child, my daughter, was wrongly identified by a prenatal test as having severe abnormalities, only to learn at birth that the “diagnosis” was a false positive, I can say with some authority that although such outcomes are happy, false positives can be emotionally and financially costly errors and not just the minor accounting hiccups with which they are sometimes equated.

Ultimately, whether widespread genetic screening’s costs to parents and children are justified by the benefits of new, generalized knowledge for society is a question that different cultures answer differently. When British and American medical experts looked at the same data a few years ago, the Brits decided there was justification to routinely screen newborns for two inborn metabolic disorders, while the American panel decided to recommend 20 and encouraged states to seriously consider an additional 22.

The President’s Council recommends that newborns be screened only for diseases for which there are effective treatments. Beyond that, it says, states should implement pilot studies aimed at assessing the real costs and benefits of screening for other conditions—participation in which should be voluntary, with informed consent.

It seems to me there is room for some leeway in the middle—for the routine inclusion of at least some diseases for which the benefits of early diagnosis are not in hand but are under development, and may come to fruition faster with better data. And I cannot at all abide by the Garden-of-Eden idea that knowledge is something humanity should fear. But while society deserves a big menu of knowledge, individuals should have the right to decide what they want to know about themselves. In that respect the Council is right to raise the question of whether newborn screening is suffering from mission creep.

Rick Weiss is a Senior Fellow at the Center for American Progress and Science Progress.

Tags: bioethics

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