EP431: Applying the clinician-reported genetic testing utility InDEx (C-GUIDE) to genome sequencing

Abstract

Genome sequencing (GS) technology currently outperforms other testing modalities for establishing a genetic diagnosis in patients with rare diseases, but access remains limited while payors seek evidence demonstrating appropriate indications, utility, and value to justify the expense. The previously published Clinician-reported Genetic testing Utility InDEx (C-GUIDE) was developed to capture the informational value of genetic testing from a clinician’s perspective and was validated in a cohort of patients who received microarray, single-gene, or multi-gene panels, but had not yet been studied in the context of GS.