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https://hdl.handle.net/2440/126997
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dc.contributor.author | Kirk, E.P. | - |
dc.contributor.author | Ong, R. | - |
dc.contributor.author | Boggs, K. | - |
dc.contributor.author | Hardy, T. | - |
dc.contributor.author | Righetti, S. | - |
dc.contributor.author | Ben, K. | - |
dc.contributor.author | Roscioli, T. | - |
dc.contributor.author | Amor, D.J. | - |
dc.contributor.author | Bakshi, M. | - |
dc.contributor.author | Chung, C.W.T. | - |
dc.contributor.author | Colley, A. | - |
dc.contributor.author | Jamieson, R. | - |
dc.contributor.author | Liebelt, J. | - |
dc.contributor.author | Ma, A. | - |
dc.contributor.author | Pachter, N. | - |
dc.contributor.author | Rajagopalan, S. | - |
dc.contributor.author | Ravine, A. | - |
dc.contributor.author | Wilson, M. | - |
dc.contributor.author | Caruana, J. | - |
dc.contributor.author | Casella, R. | - |
dc.contributor.author | et al. | - |
dc.date.issued | 2021 | - |
dc.identifier.citation | European Journal of Human Genetics, 2021; 29(1):79-87 | - |
dc.identifier.issn | 1018-4813 | - |
dc.identifier.issn | 1476-5438 | - |
dc.identifier.uri | http://hdl.handle.net/2440/126997 | - |
dc.description | Published online: 16 July 2020 | - |
dc.description.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. | - |
dc.description.statementofresponsibility | Edwin P. Kirk, Royston Ong, Kirsten Boggs, Tristan Hardy, Sarah Righetti, Ben Kamien ... et al. | - |
dc.language.iso | en | - |
dc.publisher | Springer Nature | - |
dc.rights | © The Author(s), under exclusive licence to European Society of Human Genetics 2020 | - |
dc.source.uri | http://dx.doi.org/10.1038/s41431-020-0685-x | - |
dc.subject | Humans | - |
dc.subject | Genetic Predisposition to Disease | - |
dc.subject | Quantitative Trait Loci | - |
dc.subject | Australia | - |
dc.subject | Consensus Development Conferences as Topic | - |
dc.subject | Genetic Carrier Screening | - |
dc.title | Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission") | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1038/s41431-020-0685-x | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/1117510 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Hardy, T. [0000-0002-5878-0340] | - |
Appears in Collections: | Aurora harvest 4 Pathology publications |
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