Twin studies show that 58% of melanoma risk is heritable, and approximately, 2-5% of individuals with melanoma have a significant family history. This presentation captures the evaluation of returning rare, high-risk (50-84%) and common low-risk (odds ratios 1.2-2.5) melanoma results.
Rare variant study
Dermatologists were upskilled to offer familial melanoma testing and a quasi-randomised study evaluated whether participant-reported outcomes differed depending on whether testing was offered by a dermatologist or genetic counsellor. Questionnaires were administered pre-counselling and 3 months post-test result disclosure, to measure participants’ satisfaction and psychological outcomes. 145 and 84 participants completed the baseline survey and three-month post result disclosure questionnaires respectively. The impact of the genetic testing process on participant satisfaction, psychosocial, and risk perception outcomes was similar between provider types. However, there was a slightly higher satisfaction level amongst participants in the genetic counsellor group following the counselling appointment.
Common variant study – Pilot study
Common variant odds ratios were combined with traditional melanoma risk factors to create personalised risk scores (PeRS). PeRS can facilitate risk-stratification, to inform targeted melanoma screening. Mixed-methods assessed attitudes, acceptability, and psychosocial impact of a protocol for communicating melanoma PeRS using questionnaires (baseline and 1-month post-results) and semi-structured interviews. Affected and unaffected adults were recruited to receive their personalized risk booklets and attend a genetic counseling appointment, and 31 and 33 completed baseline and follow-up questionnaires, respectively. Participants rated the information as useful and motivational for favourable health behaviours and were satisfied with the quality and content of the booklet. All participants felt highly empowered managing melanoma risk and genetic-specific distress, and uncertainty was low for all participants post-results. Qualitative interviews echoed quantitative findings and highlighted importance of access to a clinician for results interpretation and risk-management, but suggested making a genetic counseling appointment optional.