Poster Presentation Australasian Society for Dermatology Research 2022 Annual Scientific Meeting

Models of communication for Polygenic Scores and associated behavioural and psychological impacts on recipients: A Systematic Review  (#21)

Courtney K Wallingford 1 , Hannah Kovilpillai 2 , Chris Jacobs 2 , Erin Turbitt 2 , Clare A Primiero 1 , Mary-Anne Young 3 4 , Deanna G Brockman 5 , Peter Soyer 1 6 , Aideen M McInerney-Leo 1 , Tatiane Yanes 1
  1. Dermatology Research Centre, University of Queensland, Woolloongabba, QLD, Australia
  2. Graduate School of Health, University of Technology Queensland, Sydney, NSW, Australia
  3. Garvan Institute of Medical Research, Kinghorn Centre for Clinical Genomics, Darlinghurst , NSW, Australia
  4. St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia
  5. Color Health, Burlingame, California, USA
  6. Dermatology Department, Princess Alexandra Hospital, Woolloongabba, QLD, Australia

Purpose: Systematically review current models for communicating polygenic scores (PGS) and psycho-behavioural outcomes of receiving PGS.

Methods: This review included original research which communicated PGS to participants and reported on psycho-behavioural outcomes.  Search terms were applied to five databases and limited by date (2009-2021).

Results: Of 3215 search results, twenty-eight articles, representing 16 unique studies were identified. Studies provided PGS in multiple disease settings including cancer, cardiology, diabetes and psychiatric conditions. There was limited consistency in communication, evaluation, and reporting of outcomes. Most studies (n=13) presented risk numerically, verbally and/or visually. Only three studies provided personalized lifestyle advice and additional resources to facilitate favourable health behaviours. Only 1/16 studies reported using behaviour change theory to inform PGS delivery. Eight studies found no evidence of long-term negative psychosocial impacts, up to 12 months post-result. Of 13 studies reporting on behaviour, nine found at least one preventative behaviour change following receipt of PGS including screening (n=2), lifestyle (n=8), and medication changes (n=2), especially in high-risk PGS. Most studies which reported no change in behaviour noted that participants were already engaging in appropriate preventative/management behaviours prior to receiving PGS (n=3/4). Low-risk PGS was not associated with uptake of harmful behaviours (n=3).

Conclusion: PGS has the potential to benefit health behaviour. High variability among studies emphasizes the need for developing standardized guidelines for communicating PGS and evaluating psycho-behavioural patient outcomes. Our findings call for development of best communication practices and high-quality interventions informed by behaviour change theories.