Study by Dorschner and colleagues. The authors selected 1000 random exomes from the Exome Variant Sever. The author filtered this data for 114 genes that were considered clinically actionable. They identified 239 variants in these genes reported in the Human Gene Mutation Database. The number of variants drastically decreased when the evidence was reviewed for each variant. In the end, only 23 probands (2%) had variants that were considered medically actionable.
Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany