TY - JOUR
T1 - Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data
AU - The National Centre for Indigenous Genomics
AU - Easteal, Simon
AU - Arkell, Ruth M.
AU - Balboa, Renzo F.
AU - Bellingham, Shayne A.
AU - Brown, Alex D.
AU - Calma, Tom
AU - Cook, Matthew C.
AU - Davis, Megan
AU - Dawkins, Hugh J.S.
AU - Dinger, Marcel E.
AU - Dobbie, Michael S.
AU - Farlow, Ashley
AU - Gwynne, Kylie G.
AU - Hermes, Azure
AU - Hoy, Wendy E.
AU - Jenkins, Misty R.
AU - Jiang, Simon H.
AU - Kaplan, Warren
AU - Leslie, Stephen
AU - Llamas, Bastien
AU - Mann, Graham J.
AU - McMorran, Brendan J.
AU - McWhirter, Rebekah E.
AU - Meldrum, Cliff J.
AU - Nagaraj, Shivashankar H.
AU - Newman, Saul J.
AU - Nunn, Jack S.
AU - Ormond-Parker, Lyndon
AU - Orr, Neil J.
AU - Paliwal, Devashi
AU - Patel, Hardip R.
AU - Pearson, Glenn
AU - Pratt, Greg R.
AU - Rambaldini, Boe
AU - Russell, Lynette W.
AU - Savarirayan, Ravi
AU - Silcocks, Matthew
AU - Skinner, John C.
AU - Souilmi, Yassine
AU - Vinuesa, Carola G.
AU - Baynam, Gareth
PY - 2020/8/6
Y1 - 2020/8/6
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85089005936&partnerID=8YFLogxK
U2 - 10.1016/j.ajhg.2020.06.005
DO - 10.1016/j.ajhg.2020.06.005
M3 - Article
C2 - 32763188
AN - SCOPUS:85089005936
VL - 107
SP - 175
EP - 182
JO - The American Journal of Human Genetics
JF - The American Journal of Human Genetics
SN - 0002-9297
IS - 2
ER -