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Put to the Test

Genetic screening is more accessible than ever, and health-care providers are scrambling to catch up.

When my children were born in the mid-1990s, new parents could already see that prenatal genetic testing was altering the terrain of pregnancy and childbirth. Growing numbers of educated women were having children at older ages, with resulting difficulties and risks. More and more parents faced challenging, deeply personal decisions about whether to engage in genetic testing and what to do if they received unfavorable results.

I remember my own anxieties when my wife, Veronica, took a blood test that searched for elevated alpha-fetoproteins, which are associated with diverse ailments ranging from spina bifida to anencephaly. The mere prospect of these rare conditions — and even the choice to undergo the tests — was surprisingly painful. At least genetic counselors and other professionals were available to help guide us.

By that point, amniocentesis had been in wide use for more than two decades. As researchers identified the genetic markers associated with a growing list of important conditions, educated, secular, and affluent communities began to embrace genetic testing. A small but lucrative market in assisted reproductive technologies quickly emerged, which provided parents with greater control over the genetic characteristics of their offspring. In some parts of America, new diagnostic technologies provoked unease regarding their eugenic potential.

In retrospect, these innovations were incredibly tame. Technological limits, cost, intrusiveness, and risk constrained the scope of screening efforts. Roughly one in every 200 amniocenteses resulted in miscarriage, which made the procedure too risky to justify screening the full population of pregnant women. The human genome had yet to be sequenced. Newborn screening was routinely used to identify a handful of important metabolic disorders, but it was a very expensive process. There was a certain clarity, too. The most common use of amniocentesis was (and remains) to detect conditions associated with very serious physical or intellectual disabilities. When such conditions were detected, most parents chose to terminate the pregnancy.

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Originally posted on The American Prospect.

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