For all the promises of genomics ushering in a new era in medicine, with scientists regularly urging people to get their DNA sequenced, it appears that the revolution will be postponed: A first-of-its-kind study published Monday found that most of the adults who underwent genome sequencing and were told they had a disease-causing DNA variant did not in fact have that disease. And few of them got information that improved their health.
The pilot study, in the Annals of Internal Medicine, found that 11 out of 50 volunteers (aged 41 to 68) who had their genome sequenced were told they had a mutation that definitely or possibly causes a particular disease, ranging from pituitary thyroid insufficiency to the rare cardiovascular disorder Romano-Ward syndrome. Yet only 2 of the 11 actually had the disease, which in every case should have appeared by adulthood.
“We were surprised” by the high incidence of disease-causing mutations, said Dr. Jason Vassy, of Brigham and Women’s Hospital in Boston, the study’s lead author. “But we were surprised even more” by how few people with “disease-causing mutations” had...