P540: Genome-wide Sequencing Ontario (GSO): Canada’s first provincial clinical genome-wide sequencing service

Résumé fourni par la source

In Ontario, the most populated province in Canada (15M), access to clinical exome sequencing (ES) has historically been facilitated by a Ministry of Health (MOH) out-of-country exceptional access program. This process presented challenges to the healthcare system, namely, such as a burdensome funding approval process for clinical providers which added several months to patients’ diagnostic journeys, overall test performance was unknown, genome-wide sequencing (GWS) data was lost for future reanalysis or data sharing, healthcare dollars were spent outside of the country, and there remained uncertainty regarding the most appropriate approach to GWS.

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