Good Eggs, Bad Eggs

They were hardly the sort of couple you would expect to have trouble with prenatal testing. The father, Dallas geneticist Dr. Paul Billings, was the author of pioneering studies about genetic screening and its problems. The mother, Suzi, was also a physician. When she became pregnant at 37, she not only opted for amniocentesis--mainly to check for Down syndrome, an increased risk for children of mothers her age--but also for a newer genetic probe for an inheritable neuromuscular disease. She knew that a member of her family carried the gene for it and realized she might have it too. "It was a straightforward matter and deemed valid by our doctor," says Billings. "But Blue Cross adamantly refused to pay the bill--even though it was only $300."

The Billingses are now the parents of a healthy three-month-old girl. And as well-off professionals, they can afford to brush off the incident as a minor bureaucratic irritation. But for many other would-be parents, the rapidly expanding availability of genetic tests to identify inherited ailments before or after birth often raises issues that are not so easily resolved.

On the contrary, it often opens a Pandora's box of questions that tear not only into pocketbooks but at our psyches: What if the news from a test is bad? Or ambiguous? Should the fetus be aborted? Or should the child be brought into the world in hopes that a cruel disease can be managed or cured? And will insurance coverage be available if the condition was known at birth?

Beyond the poignantly personal dilemmas are broader family and societal issues. If a test is positive, should blood relatives be warned that their genes may contain the same inherited flaw? If so, should such findings become part of a permanent record, like a college transcript or an income tax return? And should doctors alert public health authorities, as they would for contagious conditions such as typhoid, hepatitis and AIDS? More disturbing, isn't there a hint of eugenics in all this picking and choosing, an attempt to shape people to our own genetic prejudices?

Indeed, the almost daily advances in our ability to forecast any of the 4,000 inherited diseases our genes might bequeath us have created such a thorny knot of private, ethical and social issues that the new genetic procedures are the subject of some 20 bills before Congress. In addition, 3% or 4% of the federal investment in the Human Genome Project--about $90 million--is now going to studies seeking to untangle them. One result is the imminent appointment of an 11-member blue-ribbon panel to advise Secretary of Health and Human Services Donna Shalala on how to guide us into this new era of genetic testing.

Testing is, of course, already commonplace. As many as 9 out of 10 pregnant women in the U.S. submit to some prenatal screening. Typically, this involves sampling the mother's blood--so-called serum-alpha-fetoprotein testing to seek out telltale proteins that may indicate spina bifida, neural-tube defects or Down syndrome--or looking directly at the fetus with ultrasound scans. For women over 35, doctors usually recommend more invasive procedures in which actual fetal cells are gathered from the womb's amniotic fluid (amniocentesis) or placenta (chorionic villus sampling).