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Development and use of the Australian reproductive genetic carrier screening decision aid

European Journal of Human Genetics volume 30, pages 194–202 (2022)Cite this article

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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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Fig. 1: The development process of the RGCS-DA using a modified, reactive Delphi review by experts of a draft version based on an existing DA developed for use in prenatal screening.

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Acknowledgements

The authors acknowledge Rachael, Jonathan and Mackenzie Casella; and the MM program leads Edwin Kirk, Nigel Laing and Martin Delatycki for the conception of the MM program. The initiation and drafting of the RGCS-DA was the responsibility of the MM Education and Engagement Committee and the MM Psychosocial and Epidemiology subcommittee members. We also acknowledge the contribution of the MM Operations team for the development of the study protocol and build of the website which hosts the RGCS-DA. A full list of committee and team members can be found at https://www.mackenziesmission.org.au/our-team/. The authors acknowledge the Delphi experts; and interview participants for their contribution to the final RGCS-DA. We thank Nigel Laing and Lisa Dive who provided critical review of this paper.

Funding

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission) is funded by the Australian Government’s Medical Research Future Fund as part of the Australian Genomics Health Futures Mission (GHFM), grant GHFM73390 (MRFF- G-MM). The grant is administered by the Murdoch Children’s Research Institute through Australian Genomics. This work was supported by the Victorian Government’s Operational Infrastructure Support Program.

Author information

Authors and Affiliations

  1. Australian Genomics Health Alliance, Melbourne, VIC, Australia

    Emily King, Ainsley J. Newson & Belinda J. McClaren

  2. Genomics in Society, Murdoch Children’s Research Institute, Melbourne, VIC, Australia

    Emily King & Belinda J. McClaren

  3. Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia

    Emily King, Jane Halliday, Alison D. Archibald, Martin Delatycki & Belinda J. McClaren

  4. Bruce Lefroy Centre for Genetic Health, Murdoch Children’s Research Institute, Melbourne, VIC, Australia

    Emily King, Martin Delatycki & Belinda J. McClaren

  5. Reproductive Epidemiology, Murdoch Children’s Research Institute, Melbourne, VIC, Australia

    Jane Halliday

  6. Victorian Clinical Genetics Services, The Royal Children’s Hospital, Melbourne, VIC, Australia

    Alison D. Archibald & Martin Delatycki

  7. Northern Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia

    Kristine Barlow-Stewart

  8. Faculty of Medicine and Health, Sydney School of Public Health, Sydney Health Ethics, University of Sydney, Sydney, NSW, Australia

    Ainsley J. Newson

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  1. Emily King
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Contributions

EK and JH led the adaptation of the DA and the Delphi review. EK conducted development interviews and modified the DA. BM and AA conducted experience interviews and EK, JH and BM co-coded the interviews. EK drafted the paper and all authors revised drafts and approved the final version.

Corresponding author

Correspondence to Belinda J. McClaren.

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Competing interests

The authors declare no competing interests.

Ethical approval

This study has Human Research Ethics Committee approval (The Royal Children’s Hospital, 2019.097_V3).

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King, E., Halliday, J., Archibald, A.D. et al. Development and use of the Australian reproductive genetic carrier screening decision aid. Eur J Hum Genet 30, 194–202 (2022). https://doi.org/10.1038/s41431-021-00991-x

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