Diagnostic Clinical Genome and Exome Sequencing

To the Editor: Biesecker and Green (June 19 issue)¹ mention the recommendations by the American College of Medical Genetics and Genomics (ACMG) for laboratories to report incidental findings in clinical genome and exome sequencing (CGES) in a total of 56 genes (which, when mutated, cause an aggregate total of 24 disorders). Most of these conditions are associated with cancer or death from cardiovascular causes.² Instead of focusing on relatively rare but treatable high-impact diseases, we suggest a greater focus on genetic causes of perhaps less threatening but treatable disorders that require specific treatments. Examples include diabetes caused by mutated HNF1A, . . .