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Emily Singer

A View from Emily Singer

Genetic Tests Already Becoming Obsolete

  • June 11, 2008

Genetic testing may be even worse than flat screens when it comes to the speed at which they become out of date. Last fall, I took a genetic test for a recently identified genetic variation linked to a significantly increased risk of type 2 diabetes. With a family history of the disease and other risk factors, I was curious about my own genetic status. Fortunately, I didn’t have that high-risk allele–but given my family history, I likely have other disease-linked variants.

At the Beyond Genome conference in San Francisco yesterday, I discovered that the test I took a year ago now screens for four genetic variants that boost risk for the disease. Those new additions are part of a flood of genome-wide association screens that have been reported over the past year. The rate may slow down as variants with the biggest impact on common diseases are identified.

The test I took was focused on a single disease, type 2 diabetes. Genome-wide screens, such as those offered by Navigenics, DeCode, and 23andMe, offer updates–either included in the initial fee or for an annual subscription–to their customers as additional information becomes available.

The issue led to an interesting panel discussion about who is responsible for tracking patients who do show an increased risk for disease. The problem is so new that there is no consensus yet. But Steve Murphy, founder of the personalized-medicine practice Helix Health, argued that it is the physician’s job, just as it is his or her responsibility to make sure that patients with high cholesterol and other risk factors are properly monitored.

Here’s an unrelated but fascinating fact that you may have heard before: a full 10 percent of fathers may not be the biological parent of their children, according to Charles Lee, director of cytogenetics at the Harvard Cancer Center. Lee’s group didn’t set out to examine these rates specifically–researchers do paternity testing as part of their standard genetic-testing process. In the process, they discovered that one in ten men are not the biological fathers of their children.

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