Advancing Understanding of Inequities in Rare Disease Genomics.
Jillian G SerranoMelanie O'LearyGrace VanNoyIngrid A HolmYarden S FraimanHeidi L RehmAnne H O'Donnell-LuriaMonica Hsiung WojcikPublished in: medRxiv : the preprint server for health sciences (2023)
We therefore describe our novel initiative to diversify RGP enrollment in order to advance equity in rare disease genetic diagnosis and research. In addition to the moral imperative of medical equity, this is also critical in order to fully understand the genomic underpinnings of rare disease. We utilize a mixed methods approach to understand the priorities and values of underrepresented communities, existing disparities, and the obstacles to addressing them: all of which is necessary to promote equity in future genomic medicine initiatives.