The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

ABSTRACT:

Purpose

Evaluation of the clinician's role in the optimal interpretation of clinical exome sequencing (ES) results.

Methods

Retrospective chart review of the first 155 patients who underwent clinical ES in our Exome Clinic and direct interaction with the ordering geneticist to evaluate the process of interpretation of results.

Results

The most common primary indication was neurodevelopmental problems (~66%), followed by multiple congenital anomalies (~10%). Based on sequencing data, the overall diagnostic yield was 36%. After assessment by the medical geneticist, incorporation of detailed phenotypic and molecular data, and utilization of additional diagnostic modalities, the final diagnostic yield increased to 43%. Seven patients in our cohort were included in initial

SUBMITTER: Baldridge D 

PROVIDER: S-EPMC5581723 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature