Medical genomics: Gather and use genetic data in health care

More and more people are getting their DNA sequenced. But the use of genetic data to inform medical decisions is lagging. More than a decade since the Human Genome Project was declared complete, fewer than 60 genetic variants are deemed worthy for use in clinical care, most for severe conditions in very young children¹. These genetic variants can guide medical decisions (see ‘Genes that doctors use’). By some estimates, women with certain variants in theBRCA genes have about an 80% chance of developing breast cancer, leading some who carry the mutation to opt for preventive mastectomies. Screening for faulty genes involved in iron transport can alert affected individuals to a need to alter their diets to avoid developing haemochromatosis, a toxic build-up of iron that damages the liver, heart and other organs. Mutations in the EGFR gene can indicate whether lung cancer will respond to expensive drugs with fewer side effects than standard chemotherapy. But five years after EGFRtests were commercialized, only around 6% of appropriate US patients were being genotyped, partly because their physicians were unaware of the tests². Read more.