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By Karen Springen
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The patient is in the bloom of her early 30s, blessed by good health and cursed by a bleak future. Thanks to a rare genetic mutation--a single misplaced nucleotide among the billions that constitute a chromosome--she is almost sure to develop Alzheimer's disease by 40. Medical science will be of little help once her brain starts to fail, but she recently found some consolation. Using a procedure called pre-implantation genetic diagnosis, or PGD, specialists in Chicago helped her bear a child who will escape her awful fate. This is not the first time specialists have used genetic tests to screen embryos for a life-threatening defect; PGD has helped high-risk couples spare their kids conditions ranging from cystic fibrosis to sickle-cell anemia. But preventing Alzheimer's is a new feat for reproductive medicine--and it raises large questions about the future of prenatal screening.
The woman at the center of this story had seen her father and two siblings stricken at young ages. And when researchers linked the family curse to a genetic anomaly, she discovered she was a carrier. Knowing that her own decline was imminent--and that any child she conceived naturally would have a 50 percent chance of inheriting the bad gene--she consulted specialists at Chicago's Reproductive Genetics Institute. They proposed using in vitro fertilization to create a child who wouldn't share her fate.
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By the researchers' account, the effort was fairly straightforward. An initial IVF cycle yielded only two mature eggs, and tests showed that both carried the mutation. But a second cycle yielded 13, including six that were unaffected. Doctors placed four of the six in the woman's uterus, and one of them took. The result was a healthy baby girl, now nearly a year and a half old. Eight decades from now, the child will be as prone to dementia as other people her age. But unlike her mother, she won't spend her 30s or 40s watching her world slip away.
Despite its happy first chapter, the story makes some experts squeamish. In a commentary published with the new report, obstetrician Dena Towner and ethicist Roberta Springer Loewy question the wisdom of creating a child whose mother is destined for incompetence. If the same child were orphaned, they observe, current regulations would bar the couple from adopting her. But the gene doctors didn't make this pregnancy possible--they merely brightened the outcome. Most analysts agree that unless the child is neglected or abused, her mother's health is none of society's business.
The real danger in PGD is not that dying people will spawn healthy kids but that our definition of "healthy kid" will contract. It's one thing to test pre-embryos for a fatal disease. But should parents be free to screen them for prospective cholesterol levels or SAT scores? And should labs market tests for susceptibilities (a 30 percent increase in breast-cancer risk) as well as inevitabilities? "With the genome mapped and new tests coming out every day," says University of Pennsylvania bioethicist Arthur Caplan, "the quest for better babies is inevitable." Though auspicious in itself, the news from Chicago suggests we could soon face bigger choices than we're prepared for.
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