Clinical whole‐exome sequencing results impact medical management

• Published in: Molecular genetics & genomic medicine Vol. 6; no. 6; pp. 1068 - 1078
• Main Authors: Niguidula, Nancy, Alamillo, Christina, Shahmirzadi Mowlavi, Layla, Powis, Zöe, Cohen, Julie S., Farwell Hagman, Kelly D.
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.11.2018; John Wiley and Sons Inc
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; clinical utility; diagnostic exome sequencing; diagnostic odyssey; Diagnostic systems; Disease Management; Facilities and Services Utilization; Female; Gene sequencing; Genetic disorders; Genetic Testing - statistics & numerical data; Health services; Humans; Male; Management; medical management; Middle Aged; Original; Patients; Polls & surveys; Test procedures; Whole Exome Sequencing - statistics & numerical data; whole‐exome sequencing; diagnostic exome sequencing; diagnostic odyssey; whole-exome sequencing; clinical utility; medical management
• ISSN: 2324-9269; 2324-9269
• DOI: 10.1002/mgg3.484

Background Clinical diagnostic whole‐exome sequencing (WES) is a powerful tool for patients with undiagnosed genetic disorders. To demonstrate the clinical utility, we surveyed healthcare providers (HCP) about changes in medical management and treatment, diagnostic testing, reproductive planning, and use of educational services subsequent to WES testing. Methods For a period of 18 months, an 18‐question survey was sent to HCPs attached to the WES reports. We analyzed the molecular diagnosis, patient clinical features, and the medical management changes reported in the returned surveys. Results A total of 62 (2.2% of 2,876) surveys were returned, consisting of 37.1% patients with a positive or likely positive pathogenic alteration, 51.6% negative results, 9.7% uncertain findings, and 1 patient (1.6%) with a novel candidate finding. Overall, 100% of the HCPs of patients with positive or likely positive WES results (n = 23) and HCPs of patients with uncertain WES results (n = 6) responded positively to one of the 18 queries. Of note, 37.5% of the HCPs of patients with negative WES results (n = 32) responded positively to at least one query. Conclusion Overall, these data clearly demonstrate the clinical utility of WES by demonstrating the impact on medical management irrespective of the exome result. To demonstrate the clinical utility of whole‐exome sequencing (WES), we surveyed healthcare providers (HCP) about changes in medical management and treatment, diagnostic testing, reproductive planning, and use of educational services subsequent to WES testing. Overall, 100% of the HCPs of patients with positive or likely positive WES results (n = 23) and HCPs of patients with uncertain WES results (n = 6) responded positively to one of the 18 queries. Of note, 37.5% of the HCPs of patients with negative WES results (n = 32) responded positively to at least one query.