Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/126997
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Type: Journal article
Title: Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")
Author: Kirk, E.P.
Ong, R.
Boggs, K.
Hardy, T.
Righetti, S.
Ben, K.
Roscioli, T.
Amor, D.J.
Bakshi, M.
Chung, C.W.T.
Colley, A.
Jamieson, R.
Liebelt, J.
Ma, A.
Pachter, N.
Rajagopalan, S.
Ravine, A.
Wilson, M.
Caruana, J.
Casella, R.
et al.
Citation: European Journal of Human Genetics, 2021; 29(1):79-87
Publisher: Springer Nature
Issue Date: 2021
ISSN: 1018-4813
1476-5438
Statement of
Responsibility: 
Edwin P. Kirk, Royston Ong, Kirsten Boggs, Tristan Hardy, Sarah Righetti, Ben Kamien ... et al.
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.
Description: Published online: 16 July 2020
Rights: © The Author(s), under exclusive licence to European Society of Human Genetics 2020
RMID: 1000023970
DOI: 10.1038/s41431-020-0685-x
Grant ID: http://purl.org/au-research/grants/nhmrc/1117510
Appears in Collections:Molecular and Biomedical Science publications

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