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.

生殖遗传携带者筛查旨在为夫妇提供有关他们生育患有某些常染色体隐性遗传和 X 连锁遗传病的孩子的机会的信息。我们开发了一个基因列表，用于“麦肯齐的使命”，这是一个研究项目，其中 10,000 对夫妇将接受筛查。选择基因的标准是：病情应该是限制生命或残疾，儿童期发病，这样夫妇可能会采取措施避免生育受影响的孩子；和/或早期诊断和干预将显着改变结果的一种。需要强有力的基因-表型关系证据。候选基因是从 OMIM 和通过审查 23 个商业和已发表的基因列表确定的。基因由 16 名临床遗传学家使用标准操作程序进行审查，在一个多学科委员会监督的过程中，该委员会包括临床遗传学家、遗传顾问、伦理学家、患有遗传病的孩子的父母以及具有诊断和研究背景的科学家。1300 个基因符合标准。不包括与非综合征性耳聋和性发育的非综合征性差异相关的基因。我们的经验表明，载体筛选面板的基因选择需要是一个动态过程，不断进行审查和改进。