Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test.

ABSTRACT:

Purpose

To evaluate the diagnostic yield and clinical relevance of clinical genome sequencing (cGS) as a first genetic test for patients with suspected monogenic disorders.

Methods

We conducted a prospective randomized study with pediatric and adult patients recruited from genetics clinics at Massachusetts General Hospital who were undergoing planned genetic testing. Participants were randomized into two groups: standard-of-care genetic testing (SOC) only or SOC and cGS.

Results

Two hundred four participants were enrolled, 202 were randomized to one of the intervention arms, and 99 received cGS. In total, cGS returned 16 molecular diagnoses that fully or partially explained the indication for testing in 16 individuals (16.2% of the cohort, 95% confidence interval [CI]

SUBMITTER: Brockman DG 

PROVIDER: S-EPMC8488861 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature