Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.

ABSTRACT: Expanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The composition of pathogenic variants differs greatly among human populations, but historically, research about monogenic diseases has focused mainly on people with European ancestry. By comparison, less is known about pathogenic DNA variants in people from other parts of the world. Consequently, inclusion of currently underrepresented Indigenous and other minority population groups in genomic research is essential to enable equitable outcomes in ECS and other areas of genomic medicine. Here, we discuss this issue in relation to the implementation of ECS in Australia, which is currently being evaluated as part of the national Governmen

SUBMITTER: Easteal S 

PROVIDER: S-EPMC7413856 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature