ArticleEuropean journal of human genetics : EJHG2021
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").
Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
65 citing papers in PubMed, 2 syntheses or guidelines pooled it, 109 citations in OpenAlex.
- Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews.Molecular genetics and metabolism · 2025Pooled it
- Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.The Cochrane database of systematic reviews · 2021Pooled it
- Considering seriousness in preconception carrier screening: a framework to support policy deliberation.Journal of community genetics · 2026Review
- Article
- The clinical utility of carrier screening.NPJ genomic medicine · 2026Article
- Burden of heterozygote carriers for autosomal recessive conditions in the Middle East: A study of 14,392 genomes.HGG advances · 2026Article
- Psychosocial outcomes of reproductive genetic carrier screening up to five years post-result.European journal of human genetics : EJHG · 2026Article
- Developing general practitioner and consumer supports for genomics in Australian primary care: a mixed-methods protocol.BMJ open · 2026Article
- Integrating preconception carrier screening into public health: lessons learned from a pilot implementation study.Journal of assisted reproduction and genetics · 2026Article
- Population-scale genomic medicine with the Hong Kong Genome Project.Nature medicine · 2026Article
- Facing suffering honestly: On severity, utility, and the public good in reproductive genetic carrier screening.European journal of human genetics : EJHG · 2026Article
- Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders.Genome medicine · 2026Article
- "We've done our due diligence": Experiences of reproductive genetic carrier screening in people with experiential knowledge of a genetic condition.European journal of human genetics : EJHG · 2026Article
- Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.European journal of human genetics : EJHG · 2026Observational
- Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study.European journal of human genetics : EJHG · 2026Article
- From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testing.European journal of human genetics : EJHG · 2026Article
- Expanding carrier screening: beyond the genes, to include underrepresented ancestries.NPJ genomic medicine · 2025Article
- The Intersection Between Genetic Reproductive Carrier Screening and Genomic Newborn Screening: Implications for Clinical Practice.Prenatal diagnosis · 2025Article
- Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants.Nature human behaviour · 2025Article
- A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screening.Data in brief · 2025Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors at 14 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.