Given the rapid drop in price of whole genome sequencing — a technology that allows doctors to get information on your entire DNA — one day relatively soon you may get a chance to find out about your risks for different diseases.
But do you really want to know?
This question once seemed more appropriate in the context of a parlor game, something fun to think about but not relevant to real life. Increasingly, however, it will be an actual discussion between a physician and patient. As WSJ reports, efforts are already underway to study and offer full sequencing as a clinical test.
To get the discussion started, a group of 16 geneticists recently took a survey on what results they think labs should report.
The study, published in March in Genetics in Medicine, has several limits. For one thing, the geneticists were focusing on conditions that might be found unexpectedly after a doctor orders full sequencing while looking for the cause of some other problem — a so-called “incidental” finding.
In addition, the geneticists (some run labs, some treat patients) weren’t weighing in on whether patients have the right to know something. Rather, they were making decisions under the assumption that patients weren’t getting the information directly, but from lab reports sent back to their doctors.
Still, the survey offers a good way to start thinking about the issue.
Jonathan Berg, an assistant professor of genetics at the University of North Carolina at Chapel Hill, says he ruled against labs giving back findings on Huntington’s disease and other mutations like APOE, which is linked to Alzheimer’s disease, because there aren’t any effective interventions yet.
Berg, a physician who evaluates people with family histories of cancer, says these kinds of findings should only be returned if specifically requested by the patient. (He co-authored a widely read commentary published last year in Genetics in Medicine on how to apply genetic data in clinical practice.)
But Bruce Korf, a geneticist who chairs the genetics department at the University of Alabama at Birmingham, says he took a fairly liberal view on what a lab should give back, figuring the patient’s doctor would have a better understanding of the patient’s wishes.
He was one of 10 of the 16 geneticists who said the lab should return results to the doctor on Huntington’s disease. Given the strong family history of the disease, he says, “it is unlikely someone at risk for Huntington will show up in a doctor’s office completely oblivious.”
Many of the same people involved in the study are now working with the American College of Medical Genetics and Genomics to come up a minimum list of conditions that labs should give back. The paper was a kind of social experiment, Korf says.
Source: The Wall Street Journal