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Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data

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 pa

Citation: Easteal S, Arkell RM, ..., Pearson G, ..., Vinuesa CG; National Centre for Indigenous Genomics; Baynam G. Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data. Am J Hum Genet. 2020 Aug 6;107(2):175-182.

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.