May 9, 2013
Your Genes, Your Choice?
Critics say the American College of Medical Genetics and Genomics’ recent recommendations for reporting incidental clinical sequencing results undermine patient autonomy.
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You’ve done some reading, really thought it through, spoken with your doctor, talked it over with your family and friends, and decided to have your exome sequenced. You’d like to know more about your risk of developing the breast cancer that looms within your family’s history. But, before learning this, consider: Do you also want to know whether you have a heightened risk of developing colorectal cancer later in life? That patients who opt to have their genomes sequenced—in part or whole—in a clinical setting would not be able to ignore such a so-called incidental finding is the major implication of guidelines issued by an American College of Medical Genetics and Genomics (ACMG)-appointed working group in March. In a dramatic shift away from the patient’s “right-not-to-know” message pervading clinical genetics since the field’s inception, the new ACMG guidelines suggest that anyone undergoing genome sequencing for any reason should also be screened for dozens of variants associated with life-threatening but treatable conditions. “Clinicians and laboratory personnel have a fiduciary duty to prevent harm by warning patients and their families about certain incidental findings…. This principle supersedes concerns about autonomy, just as it does in the reporting of incidental findings elsewhere in medical practice,” the group behind these new recommendations wrote. Last week, ACMG issued a statement to clarify some of the more hotly debated issues related to its recommendations, including prediction of disease likelihood, returning results to pediatric patients and their families, and billing and reimbursement considerations, among other things. In a blog entry over at the Huffington Post, report co-author Robert Green, associate professor of medicine at Brigham and Women’s Hospital and Harvard Medical School, elaborated on his team’s position, calling the recommendations “a controversial but necessary step towards genomic medicine.” Scanning for additional disease-associated variants when searching an exome sequence for some other anomaly, he said, is much like a radiologist scrutinizing an entire chest x-ray, even if it was ordered to be interpreted with respect to a particular anatomical focus. “The search for rare incidental findings is routine in medical practice,” Green wrote at HuffPost. “Exceptionalizing the incidental information discovered through genetics has no rational basis except to maintain traditions that are becoming increasingly impractical as genomics [sic] medicine arrives,” he added.