For the first time, a randomized trial was conducted to evaluate how the use of whole-genome sequencing (WGS) in asymptomatic adults affects clinical care and patient outcomes. The study was published Monday in the Annals of Internal Medicine and funded by the National Institutes of Health. Researchers found that WGS did reveal new molecular findings, and that many providers could sufficiently contend with genomic information, but there remains uncertainty as to the results’ clinical utility when weighed against costs such as patient anxiety and increased healthcare expenditures.
In an article covering the study’s release and results, The Scientist spoke to LSI’s Faculty Director Gary Marchant, who holds a Ph.D. in genetics. Though Professor Marchant acknowledged potential negatives such as insurance discrimination, his outlook is generally positive for the future of genetic testing. He notes that not only will 1-2% of large populations find a significant and potentially actionable medical result from WGS, which may be a justification in itself for including the test, but that all of the studies’ participants also had recessive carrier genes that can be important when planning to have children.