Please use this identifier to cite or link to this item:
|Scopus||Web of Science®||Altmetric|
|Title:||Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")|
|Citation:||European Journal of Human Genetics, 2021; 29(1):79-87|
|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|
|Appears in Collections:||Molecular and Biomedical Science publications|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.