Dataset Information

Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").

ABSTRACT: Reproductive genetic carrier screening aims to offer couples information about their chance of having children with certain autosomal recessive and X-linked genetic conditions. We developed a gene list for use in "Mackenzie's Mission", a research project in which 10,000 couples will undergo screening. Criteria for selecting genes were: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome. Strong evidence for gene-phenotype relationship was required. Candidate genes were identified from OMIM and via review of 23 commercial and published gene lists. Genes were reviewed by 16 clinical geneticists using a standard operating procedure, in a process overseen by a multidisciplinary committee which included clinical geneticists, genetic counselors, an ethicist, a parent of a child with a genetic condition and scientists from diagnostic and research backgrounds. 1300 genes met criteria. Genes associated with non-syndromic deafness and non-syndromic differences of sex development were not included. Our experience has highlighted that gene selection for a carrier screening panel needs to be a dynamic process with ongoing review and refinement.

SUBMITTER: Kirk EP

PROVIDER: S-EPMC7852568 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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Publications

Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").

Kirk Edwin P EP Ong Royston R Boggs Kirsten K Hardy Tristan T Righetti Sarah S Kamien Ben B Roscioli Tony T Amor David J DJ Bakshi Madhura M Chung Clara W T CWT Colley Alison A Jamieson Robyn V RV Liebelt Jan J Ma Alan A Pachter Nicholas N Rajagopalan Sulekha S Ravine Anja A Wilson Meredith M Caruana Jade J Casella Rachael R Davis Mark M Edwards Samantha S Archibald Alison A McGaughran Julie J Newson Ainsley J AJ Laing Nigel G NG Delatycki Martin B MB

European journal of human genetics : EJHG 20200716 1

Reproductive genetic carrier screening aims to offer couples information about their chance of having children with certain autosomal recessive and X-linked genetic conditions. We developed a gene list for use in "Mackenzie's Mission", a research project in which 10,000 couples will undergo screening. Criteria for selecting genes were: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/o ...[more]

PMID: 32678339

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Project description:Reproductive genetic carrier screening (RGCS) for hundreds of different genetic conditions is technically available for prospective parents, but these tests have not been integrated in a public health policy except for specific sub-groups. We aimed to provide an overview of the perspectives of multiple professional stakeholder groups in order to enhance a responsible implementation of population-based reproductive genetic carrier screening. We conducted a systematic literature search using eight online databases focussing on studies that were published from January 2009 to January 2021. We selected articles dealing with attitudes and opinions from different professional stakeholders, in particular healthcare professionals and policymakers, on how to implement a policy about carrier screening for a reproductive purpose. We identified 18 studies that met our inclusion criteria. Based on our inductive analysis, we identified ten themes categorized in both clinical and program management challenges: ensuring availability of RGCS to all couples who request the test, embedding RGCS as a test offer before pregnancy, providing clear and reliable information, ensuring voluntary participation, developing genetic counselling pre- and post-testing (after positive or negative result), avoiding psychological harm, ensuring equal access, avoiding social pressure, educating and involving a broad spectrum of non-genetic health care professionals, and promoting an independent non-commercial organisational structure. We highlight one major stumbling block on how to responsibly inform couples about hundreds different genetic conditions within constraints regarding time and ability of non-genetic professionals. We promote further research to tackle the issues brought up by this systematic review through pilot studies. Trial Registration: PROSPERO International Prospective Register of Systematic Reviews PROSPERO 2021 # CRD42021233762; https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=233762 .

Dataset Information

Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").

Publications

Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").

Similar Datasets

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