FLICKR, JOHN GOODEIn a review of medical records, Dan Roden and Sara Van Driest of Vanderbilt University Medical Center and their colleagues found that some genetic variations linked to cardiac disorders do not always translate to increased risk of disease, according to a study published yesterday (January 5) in JAMA.
The question of whether findings of such disease-linked genetic variants in patients’ genomes—which are often poorly defined in terms of how frequently pathogenic symptoms of such variants arise—should be returned to patients as “incidental findings,” including those discovered as part of new, noninvasive prenatal testing, has been hotly debated. Surveys have suggested that patients want to know, and both the American College of Medical Genetics and Genomics (ACMG) and the Presidential Commission for the Study of Bioethical Issues have stated that patients have the right to decide whether or not to be told about incidental findings.
Turning to data from electronic medical records of more than 2,000 patients, the Vanderbilt team assessed the clinical manifestations of variants in two arrhythmia susceptibility genes, SCN5A and KCNH2. ...
