Sharne Limb

TL;DR: The Human Genetics Society of Australasia (HGSA) as mentioned in this paper provides the viewpoint of the human genetics society of Australia regarding the clinical application of disease-associated polygenic scores in both individual patients and population health.

TL;DR: In this article , a mixed-methods study aimed to assess the acceptability of a genetic counselor (GC) phone call in communicating polygenic risk information in the Melanoma Genomics Managing Your Risk randomized controlled trial.

Abstract: PURPOSE Professional perspectives on polygenic risk scores (PGS) have surged in-line with significant research investment. It is unclear whether these perspectives are leading the healthcare sector toward a comprehensive implementation approach. This scoping review addresses this knowledge gap, analysing available publications for concurring and discordant perspectives. METHODS Methodology followed the Arksey and O'Malley framework. Six databases were systematically searched alongside screening of professional websites. Descriptive and deductive content analyses were completed using the Consolidated Framework for Implementation Research and the Expert Recommendations for Implementing Change compilation. RESULTS 28 perspectives were analysed. Implementation was supportable if evidentiary thresholds for clinical utility could be met, with exceptions being in-vitro fertilisation and prenatal settings. Evidence-base and relative advantage of PGS were the strongest determinants of implementation success, with resourcing also emphasised. Key strategies included ongoing research, developing education materials, and facilitating relay of information. Attention was not paid to leadership, nor to stakeholder inter-relationships. There was no recommended framework to facilitate the clinical implementation of PGS. CONCLUSION The steps towards executing implementation remain vague. Commonalities in perspectives suggest value in a transferable approach. If PGS are to be successful, policy makers and leaders must consider effective resource allocation by addressing priority barriers and utilising implementation methodologies. Continuing efforts to establish PGS clinical utility and value, guidelines and policies, and educational materials are needed.

TL;DR: Rec retrospective genetic testing to identify PVs in previously untested deceased probands with TOC is demonstrated to be feasible, overcame ethical and logistic challenges, and allows identification of at-risk families for cancer prevention.