Dataset Information

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 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.

SUBMITTER: Easteal S

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

REPOSITORIES: biostudies-literature

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

Easteal Simon S Arkell Ruth M RM Balboa Renzo F RF Bellingham Shayne A SA Brown Alex D AD Calma Tom T Cook Matthew C MC Davis Megan M Dawkins Hugh J S HJS Dinger Marcel E ME Dobbie Michael S MS Farlow Ashley A Gwynne Kylie G KG Hermes Azure A Hoy Wendy E WE Jenkins Misty R MR Jiang Simon H SH Kaplan Warren W Leslie Stephen S Llamas Bastien B Mann Graham J GJ McMorran Brendan J BJ McWhirter Rebekah E RE Meldrum Cliff J CJ Nagaraj Shivashankar H SH Newman Saul J SJ Nunn Jack S JS Ormond-Parker Lyndon L Orr Neil J NJ Paliwal Devashi D Patel Hardip R HR Pearson Glenn G Pratt Greg R GR Rambaldini Boe B Russell Lynette W LW Savarirayan Ravi R Silcocks Matthew M Skinner John C JC Souilmi Yassine Y Vinuesa Carola G CG Baynam Gareth G

American journal of human genetics 20200801 2

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 Indig ...[more]

PMID: 32763188

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Project description:Study questionWhat are the sperm and egg donor rejection rates after expanded carrier screening (ECS)?Summary answerUsing an ECS panel looking at 46/47 genes, 17.6% of donors were rejected.What is known alreadyThe use of ECS is becoming commonplace in assisted reproductive technology, including testing of egg and sperm donors. Most national guidelines recommend rejection of donors if they are carriers of a genetic disease. If the use of ECS increases, there will be a decline in the number of donors available.Study design, size, durationA review of the current preconception ECS panels available to donors was carried out through an online search. The genetic testing results of donors from Cryos International were analysed to determine how many were rejected on the basis of the ECS.Participants/materials, setting, methodsData on gamete donors and their carrier status was provided by Cryos International, who screen donors using their own bespoke ECS panel. The ECS panels identified through the review were compared to the Cryos International panel and data.Main results and the role of chanceA total of 16 companies and 42 associated ECS panels were reviewed. There were a total of 2673 unique disorders covered by the panels examined, with a mean of 329 disorders screened. None of these disorders were common to all panels. Cryos International screen 46 disorders in males and 47 in females. From 883 candidate donors, 17.6% (155/883) were rejected based on their ECS result. Carriers of alpha-thalassaemia represented the largest proportion of those rejected (19.4%, 30/155), then spinal muscular atrophy (15.5%, 24/155) and cystic fibrosis (14.8%, 23/155).Limitations, reasons for cautionPanel information was found on company websites and may not have been accurate.Wider implications of the findingsThis study highlights the need for consistent EU regulations and guidelines that allow genetic matching of gamete donors to their recipients, preventing the need to reject donors who are known carriers. A larger ECS panel would be most beneficial; however, this would not be viable without matching of donors and recipients.Study funding/competing interest(s)No specific funding was obtained. J.C.H. is the founder of Global Women Connected, a platform to discuss women's health issues and the Embryology and PGD Academy, who deliver education in clinical embryology. She has been paid to give a lecture by Cryos in 2019. A-B.S. is an employee of Cryos International.Trial registration numberN/A.

Dataset Information

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

Publications

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

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