P868: How many lost diagnoses? Addressing inequitable access to genomic testing for rare diseases in rural populations

• DOI: 10.1016/j.gimo.2024.101782
• Publication Date: 2024-03-08T10:54:40Z
• Authors: Ana S.A. Cohen; Cassandra Barrett; Tricia Zion; Riley Moore; Emelia Boillat; Bradley Belden; Emily Farrow; Isabelle Thiffault; Courtney Berrios; Britton Zuccarelli; Tomi Pastinen
• Keywords: Genetics; R; Medicine; QH426-470

How many children are struggling in their day-to-day life due to having an undiagnosed rare genetic disorder? We know that next generation sequencing has revolutionized the speed of disease (RD) diagnoses and supplementation by additional technologies such as long-read genome (lrGS), offered now clinically at Children's Mercy Hospital (CMH), holds promise increase diagnostic rates beyond 50%. However, benefits these only apply RD patients who receive testing, current shortage maldistribution clinical services United States leads regional disparities access genomic testing.