An article in Atlantic Monthly offers real-world examples of the ways incorrectly classified genetic variants can lead to wrong treatment decisions, and what's being done to address this problem. Heidi Rehm, PhD, describes a patient who terminated her pregnancy when informed her fetus had a mutation that causes heart problems and stunted growth, based on research that was found to be incorrect. Recent scholarship has raised awareness of studies wrongly claiming certain genetic mutations are pathogenic, often based on out-of-date, poorly designed studies or those using data from non-diverse populations. To help scientists grapple with this significant challenge, Rehm is leading the development of ClinVar, an "open database of genetic variants that Nature has billed as a 'one-stop shop for disease genes.'" Rehm described her team's development of ClinVar and other resources for improving the interpretation of genetic variants in a lecture hosted by the Consortium in February, 2015. View the video here.
Wednesday, December 23, 2015