Not so many months ago, I wrote a post about the “Wild West Marketplace” of consumer genetic testing. That description came from Laura Hercher, a highly respected genetics counselor whom I interviewed for the piece. Though our focus primarily was on the entertainment aspect of consumer DNA testing (tracing one’s ancestry, etc.), we also discussed the more serious health implications. I find the topic fascinating, but I thought I’d leave it there. Hercher pointed out many of the flaws and potentially false results that these tests may yield. Then events made me take a second look at the feasibility of genetic testing in my own life: my sister died of pancreatic cancer, only 43 days after she’d been diagnosed... I began to think about my likelihood of developing a heritable cancer.... As a former health writer/editor and continuing catastrophizer, I immediately felt I needed more information...
Category: genetic testing
Navigating “The Wild West” Marketplace of Consumer Genetic Testing–and Other Needed Information About Our DNA
In an article in The New York Times Sunday Review, genetics counselor Laura Hercher described a man named Matthew Fender, who—after searching for heredity data through 23andMe—had placed his genetic test results into Promethease, a DNA search engine that probes such data for variants cited in the medical literature. Fender had sought to learn his risk for developing a pulmonary embolism, the condition that had killed his sister, a seemingly healthy young woman of 23. The report didn’t mention that, but it did provide the alarming news that he carried a mutation (PSEN1) strongly associated with early onset Alzheimer’s, as well as two copies of a gene variant (ApoE4) that indicates greatly increased chances of developing late-onset Alzheimer’s. After getting no satisfactory guidance from his primary care doctor and other professionals, Fender checked out a competing genetics company, Ancestry DNA, to see what his results there would say about the PSEN1 variant. They said nothing. He then persuaded his doctor to order the test, which proved negative.... It’s worth noting that both companies claimed their tests were 99.9% accurate. Yet a 23andMe representative told Hercher that “a 99.9% accuracy can still mean errors.”
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