Personal genomics: out of the bottle

Do you really want to know? That’s the question more and more people will be faced with, as personal genetic testing becomes more widespread.

Andrew Faucett discussed some of the emerging issues in “personal genomics” that will confront both doctors and patients at Emory’s Predictive Health Symposium in December. Faucett is an expert in the field of genetic testing and genetic counseling and an assistant professor in Emory’s Department of Human Genetics.

For example, does a man want to find out whether he is really the father of a baby? A recent New York Times magazine article explores this issue.

In addition, as Faucett points out, a risk factor for one condition might later be found to influence the risk for another. Good examples of this are variants of the Apolipoprotein E gene, which were first studied in relation to heart disease, but later were found to be risk factors for Alzheimer’s disease.

Many people might want to find out whether they carry mutations in the BRCA1 and BRCA2 genes, which are breast and ovarian cancer risk factors, or the clotting variant Factor V Leiden. With the continuing pace of genetics research, the list of possibilities is probably going to expand rapidly.

Here’s some perspective from the New England Journal of Medicine. One of the co-authors was Predictive Health Symposium speaker Muin Khoury from the Centers for Disease Control. At the Symposium, he explained that the usefulness doctors might get out of genetic test results — “clinical utility” — might be quite different from the value an individual puts on them — “personal utility.”

Because it’s easy to gather additional information once a DNA sample is in the lab, economics will drive the bundling of genetic tests. In this second clip, Faucett refers to services offered by consumer genetics testing companies, and how health care professionals will need to become skillful at communicating risk quantitatively.

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Quinn Eastman

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