An American College of Medical Genetics and Genomics (ACMG) working group recommended this month that patients whose genomes are sequenced for a medical condition be told whether they have a predisposition to other diseases. The recommendations, the first from a professional society about how to handle so-called “incidental findings,” apply to all children and adults, even those who do not wish to learn of other disease risks. The ACMG encouraged labs to seek out mutations in all DNA samples they analyze. The recommendations encompass mutations in 57 genes, including predispositions to breast, ovarian and colon cancer, aneurysms and cardiomyopathies. The list is comprised of mutations that considerably raise the risk for disease and those for which treatment or a recommended response is available. It is estimated that a predisposition to the covered mutations would be detected in about 1% of patients. Experts remain at odds regarding the recommendations.

Source: Science Magazine