Mainstreaming melanoma genetic testing: Participant outcomes comparable when testing is provided by dermatologists and genetic counsellors
Background: Approximately 10% of melanoma cases occur in individuals with a significant family history of melanoma. High-penetrance pathogenic germline variants account for 20 to 40% of familial cases. Genetic testing for familial melanoma can promote early detection, facilitate personalised screening, and improve preventative behaviours without causing psychological harm. There is increasing recognition of the clinical and personal utility of melanoma genomic testing. However, access to melanoma genomic testing is currently limited due to the high prevalence of melanoma in Australia and limited capacity of clinical genetics services.
Authors
- Clare Primiero (ORCID: https://orcid.org/0000-0002-2944-0013)
- Tatiane Yanes (ORCID: https://orcid.org/0000-0002-3905-3025)
- J. Berkman
- H. Peter Soyer (ORCID: https://orcid.org/0000-0002-4770-561X)
- Anna Finnane (ORCID: https://orcid.org/0000-0002-5661-8681)
- Emily DeBortoli (ORCID: https://orcid.org/0000-0002-9284-9110)
- Courtney K. Wallingford (ORCID: https://orcid.org/0000-0001-6529-7528)
- Aideen M McInerney-Leo (ORCID: https://orcid.org/0000-0002-0059-5732)
Publication Details
- Journal
- EJC Skin Cancer
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.ejcskn.2025.100505
- Primary Topic
- Cutaneous Melanoma Detection and Management
- Type
- article
- Field-Weighted Citation Impact
- 0.00