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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 Government's Genomics Health Futures Mission. We argue that significant effort is required to build an evidence base and genomic reference data so that ECS can bring significant clinical benefit for many Aboriginal and/or Torres Strait Islander Australians. These efforts are essential steps to achieving the Australian Government's objectives and its commitment “to leveraging the benefits of genomics in the health system for all Australians.†They require culturally safe, community-led research and community involvement embedded within national health and medical genomics programs to ensure that new knowledge is integrated into medicine and health services in ways that address the specific and articulated cultural and health needs of Indigenous people. Until this occurs, people who do not have European ancestry are at risk of being, in relative terms, further disadvantaged. 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 Government's Genomics Health Futures Mission. We argue that significant effort is required to build an evidence base and genomic reference data so that ECS can bring significant clinical benefit for many Aboriginal and/or Torres Strait Islander Australians. These efforts are essential steps to achieving the Australian Government's objectives and its commitment “to leveraging the benefits of genomics in the health system for all Australians.†They require culturally safe, community-led research and community involvement embedded within national health and medical genomics programs to ensure that new knowledge is integrated into medicine and health services in ways that address the specific and articulated cultural and health needs of Indigenous people. Until this occurs, people who do not have European ancestry are at risk of being, in relative terms, further disadvantaged.

Item Type:	Article
Authors/Creators:	Easteal, S and Arkell, RM and Balboa, RF and Bellingham, SA and Brown, AD and Calma, T and Cook, MC and Davis, M and Dawkins, HJS and Dinger, ME and Dobbie, MS and Farlow, A and Gwynne, KG and Hermes, A and Hoy, WE and Jenkins, MR and Jiang, SH and Kaplan, W and Leslie, S and Llamas, B and Mann, GJ and McMorran, BJ and McWhirter, RE and Meldrum, CJ and Nagaraj, SH and Newman, SJ and Nunn, JS and Ormond-Parker, L and Orr, NJ and Paliwal, D and Patel, HR and Pearson, G and Pratt, GR and Rambaldini, B and Russell, LW and Savarirayan, R and Silcocks, M and Skinner, JC and Souilmi, Y and Vinuesa, CG and Baynam, G
Keywords:	clinical genomics, Aboriginal and Torres Strait Islander health, health equity
Journal or Publication Title:	American Journal of Human Genetics
Publisher:	Univ Chicago Press
ISSN:	0002-9297
DOI / ID Number:	10.1016/j.ajhg.2020.06.005
Copyright Information:	Copyright 2020 American Society of Human Genetics
Related URLs:	Google Scholar: McWhirter, RE UTAS Profile: McWhirter, RE
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