A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.

ABSTRACT:

Purpose

We evaluated clinical and genetic features enriched in patients with multiple Mendelian conditions to determine which patients are more likely to have multiple potentially relevant genetic findings (MPRF).

Methods

Results of the first 7698 patients who underwent exome sequencing at Ambry Genetics were reviewed. Clinical and genetic features were examined and degree of phenotypic overlap between the genetic diagnoses was evaluated.

Results

Among patients referred for exome sequencing, 2% had MPRF. MPRF were more common in patients from consanguineous families and patients with greater clinical complexity. The difference in average number of organ systems affected is small: 4.3 (multiple findings) vs. 3.9 (single finding) and may not be distinguished in clinic.<

SUBMITTER: Smith ED 

PROVIDER: S-EPMC6774997 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature