A clinical laboratory's experience using GeneMatcher -- building
stronger gene-disease relationships.
Abstract
The use of whole-genome sequencing (WGS) has accelerated the pace of
gene discovery and highlighted the need for open and collaborative data
sharing in the search for novel disease genes and variants. GeneMatcher
(GM) is designed to facilitate connections between researchers,
clinicians, health-care providers and others to help in the
identification of additional patients with variants in the same
candidate disease genes. The Illumina Clinical Services Laboratory
offers a WGS test for patients with suspected rare and undiagnosed
genetic disease and regularly submits potential candidate genes to GM to
strengthen gene-disease relationships. We describe our experience with
GM, including criteria for evaluation of candidate genes, and our
workflow for the submission and review process. We have made 69
submissions, 36 of which are currently active. Ten per cent of
submissions have resulted in publications, with an additional 14
submissions part of ongoing collaborations and expected to result in a
publication.