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 usi

SUBMITTER: Kirk EP 

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

REPOSITORIES: biostudies-literature