Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

ABSTRACT:

Background

Approximately two third of patients with a rare genetic disease remain undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures, patients without a conclusive diagnosis are advised to recontact their referring clinician to discuss new diagnostic opportunities in due time. We performed a systematic study of genetically undiagnosed patients 5 years after their initial negative ES report to determine the efficiency of diverse reanalysis strategies.

Methods

We revisited a cohort of 150 pediatric neurology patients originally enrolled at Radboud University Medical Center, of whom 103 initially remained genetically undiagnosed. We monitored uptake of physician-initiated routine clinical and/or genetic re-evaluation (ad hoc re-evaluation) a

SUBMITTER: Schobers G 

PROVIDER: S-EPMC9204949 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature