P616: Genome-wide Sequencing Ontario (GSO): Insight into Ontario’s rare disease landscape

Résumé fourni par la source

Genome-wide sequencing (GWS) has been identified as a key strategy for achieving a timely diagnosis for patients with rare diseases. Prior to April 2021, access to all clinical GWS for Ontarians was facilitated by a Ministry of Health (MOH) out-of-country testing program. While this program provided access to testing not available at clinical laboratories in Canada, it was labor-intensive and did not provide knowledge of diagnostic outcomes from GWS. Establishment of local infrastructure was essential to increase access to GWS, enabling a locally representative knowledge base and a performance measurement system that could guide technical and policy decisions related to the use of GWS over time.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.