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

• Published in: European journal of human genetics : EJHG Vol. 30; no. 2; pp. 194 - 202
• Main Authors: King, Emily, Halliday, Jane, Archibald, Alison D, Delatycki, Martin, Barlow-Stewart, Kristine, Newson, Ainsley J, McClaren, Belinda J
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01-02-2022; Springer International Publishing
• Subjects: Australia; Children; Cognitive ability; Decision Making; Decision Support Techniques; Female; Genetic Carrier Screening; Genetic screening; Humans; Mass Screening; Pilot Projects; Pregnancy; Australia
• DOI: 10.1038/s41431-021-00991-x
• EISSN: 1476-5438
• ISSN: 1018-4813

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.