Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study.

ABSTRACT:

Background

Genetics is an important contributor to autism spectrum disorder (ASD). Clinical guidelines endorse genetic testing in the medical workup of ASD, particularly tests that use whole genome sequencing (WGS) technology. While the clinical utility of genetic testing in ASD is demonstrated, the breadth of impact of results can depend on the variant and/or gene being reported.

Methods

We reviewed research results returned to families enrolled in our ASD WGS study between 2012 and 2023. For significant results, we grouped the outcome of each genetic finding into three outcome categories: (1) genetic diagnosis, (2) counselling benefits and (3) support to family.

Results

Out of 202 families who received genome sequencing results, 100 had at least one clinically relev

SUBMITTER: Selvanayagam T 

PROVIDER: S-EPMC12116238 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature