ArticleEuropean journal of human genetics : EJHG2022
Development and use of the Australian reproductive genetic carrier screening decision aid.
Article in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 22 citations in OpenAlex.
- Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening.European journal of human genetics : EJHG · 2026Review
- 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
- Impact of a digital platform on genetic counselling encounters in the screening context.European journal of human genetics : EJHG · 2026Article
- Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation.European journal of human genetics : EJHG · 2025Review
- Review
- Editorial: severity in a genomic age.European journal of human genetics : EJHG · 2025Article
- Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions.European journal of human genetics : EJHG · 2025Article
- Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening.European journal of human genetics : EJHG · 2025Article
- Returning raw genomic data to research participants in a pediatric cancer precision medicine trial.NPJ genomic medicine · 2025Article
- Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study.Journal of assisted reproduction and genetics · 2024Article
- Development and early-stage evaluation of a patient portal to enhance familial communication about hereditary cancer susceptibility testing: A patient-driven approach.Health expectations : an international journal of public participation in health care and health policy · 2023Article
- Genetic Counsellors play a key role in supporting ethically responsible expanded universal carrier screening.European journal of human genetics : EJHG · 2023Article
- Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?Pharmacogenomics and personalized medicine · 2023Review
- The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.Journal of personalized medicine · 2022Article
- Outcomes of Importance to Patients in Reproductive Genetic Carrier Screening: A Qualitative Study to Inform a Core Outcome Set.Journal of personalized medicine · 2022Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Reproductive genetic carrier screening (RGCS) may be offered to all individuals and couples, regardless of family history or ethnicity. "Mackenzie's Mission" (MM) is an Australian RGCS pilot study, evaluating the offer of couple-based screening for ~1300 genes associated with around 750 autosomal and X-linked recessive childhood-onset conditions. Each member of the couple makes an individual decision about RGCS and provides consent. We developed a decision aid (RGCS-DA) to support informed decision-making in MM, suitable for couples who were either non-pregnant or in early pregnancy. A Delphi approach invited experts to review values statements related to various concepts of RGCS. Three review rounds were completed, seeking consensus for relevance and clarity of statements, incorporating recommended modifications in subsequent iterations. The final RGCS-DA contains 14 statements that achieved Delphi consensus plus the attitude scale of the measure of informed choice. This was then evaluated in cognitive talk aloud interviews with potential users to assess face and content validity. Minimal wording changes were required at this stage. After this process, the RGCS-DA was piloted with 15 couples participating in MM who were then interviewed about their decision-making. The RGCS-DA prompted discussion within couples and facilitated in depth consideration of screening. There was reassurance when values aligned and a sense of shared decision-making within the couple. This RGCS-DA may become a very useful tool in supporting couples' decision making and contribute to RGCS being feasible for scaled-up implementation.
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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.