Poster Presentation Australasian Society for Dermatology Research Annual Scientific Meeting 2024

Mainstreaming genetic testing for melanoma: quantitatively evaluating whether provider type impacts participant outcomes (#95)

Emily DeBortoli 1 , Clare Primiero 1 , Courtney Wallingford 1 , Tatiane Yanes 1 , Lisa Dive 2 , Anna Finnane 1 , Peter Soyer 1 , Aideen McInerney-Leo 1
  1. University of Queensland , Woolloongabba, Qld
  2. Graduate School of Health , University of Technology Sydney , Sydney

Background: Approximately 2-5% of melanoma is familial. Pathogenic variants in melanoma genes account for 40% of familial cases, increasing lifetime melanoma risk by 50-84%. When offered by a genetic counsellor, familial melanoma genetic testing facilitates early detection and improves preventative behaviours without causing psychological distress. However, there is a limited genetic counselling workforce. Upskilling dermatologically-trained clinicians could increase the accessibility of melanoma genetic testing, however the impact on patient outcomes is unknown.

Aim: To determine if provider type (genetic counsellor versus dermatologically-trained clinician) impacts psychosocial outcomes and satisfaction with the testing process in high-risk individuals undergoing melanoma genetic testing.

Methods: Participants consented to a quasi-randomised study allocating high-risk individuals to receive pre- and post-genetic test appointments from a genetic counsellor or dermatologically-trained clinician. Questionnaires comprised of validated scales (e.g., disease-specific cancer worry scale) were administered at four time points (baseline before the pre-test appointment, post-baseline after the pre-test appoitment, two weeks after result disclosure, and three months post result disclosure).

Results: 147 and 100 participants completed the baseline and three-month post-result disclosure questionnaire, respectively. We found that the impact of the genetic testing process on participant satisfaction and psychosocial outcomes was similar between provider types across all time points. However, there was a modestly higher (statistically significant) satisfaction level amongst participants in the genetic counsellor group immediately following the pre-counselling appointment (post-baseline).

Conclusions: Provisional results indicate that high-risk melanoma patients’ psychosocial outcomes and satisfaction with the testing process are comparable when genetic testing for melanoma is offered by an upskilled dermatologically-trained clinician and a genetic counsellor. Replication in a larger cohort could support mainstreaming melanoma genetic testing into dermatology practice.