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

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
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article

Mainstreaming melanoma genetic testing: Participant outcomes comparable when testing is provided by dermatologists and genetic counsellors

Clare Primiero, Tatiane Yanes, J. Berkman, H. Peter Soyer et al.
EJC Skin Cancer
Cutaneous Melanoma Detection and Management
article

Mainstreaming melanoma genetic testing: Participant outcomes comparable when testing is provided by dermatologists and genetic counsellors

Clare Primiero, Tatiane Yanes, J. Berkman, H. Peter Soyer, Anna Finnane, Emily DeBortoli, Courtney K. Wallingford, Aideen M McInerney-Leo
article en

Abstract

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.

EJC Skin CancerVol. 3
Gender equality
Openalex Percentile: Top 90%
Cutaneous Melanoma Detection and Management
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Mainstreaming melanoma genetic testing: Participant outcomes comparable when testing is provided by dermatologists and genetic counsellors — Clare Primiero, Tatiane Yanes, et al. · EJC Skin Cancer (2025) | TGRS Research Map | TGRS