EP513: “Doctors shouldn’t have to cheat the system”: Clinicians’ real-world experiences of the utility of genomic sequencing

Abstract

There is a chasm between policymakers who evaluate and fund new genetic tests and clinicians’ real-world use and experiences of these tests. In the policy world, emerging genetic tests are generally evaluated based on diagnostic rate and clinical management changes, often referred to as clinical utility, to inform funding and adoption. However, in clinical practice, genomic tests are often used and valued for benefits beyond diagnosis and management. Genomic medicine has reached a watershed moment: emerging tests are becoming more comprehensive, identifying diagnoses for a broader range of conditions, and opening up the possibilities of more benefits for patients but frameworks remain limited to diagnosis and clinical management in their evaluations.