In “South-Seq”, we will perform whole-genome sequencing on newborns suspected to have genetic disorders and develop and test return of results mechanisms to expand access to genetic testing to diverse, especially historically underserved, communities.
South-Seq is a collaborative effort among researchers and clinicians at the HudsonAlpha Institute, the University of Alabama-Birmingham, and the University of Mississippi at Jackson. We will enroll newborns suspected to have genetic disorders being cared for in nurseries in Alabama and Mississippi that are enriched for minority, rural, and underserved patients. We will conduct whole-genome sequencing to identify genetic variants that are contributing to the observed symptoms and which may provide diagnostic and prognostic information for the probands and their parents. We also plan to engage various individuals from key stakeholder groups to design, implement, and test a return of results mechanism that does not require a medical geneticist or genetic counselor. Our major goals are to expand the reach of genomic testing to diverse communities in a safe, effective, and equitable manner.