Mainstreaming Melanoma Genetic Testing

Familial Melanoma:

Melanoma heritability is estimated to be around 58%, with 10% of melanoma cases occurring in individuals with a positive family history. Around 20-40% of familial melanoma cases are caused by an inherited genetic variant, which are associated with earlier melanoma onset, multiple primary melanomas, multiples cases in a family, and increased risk of other cancers. Genetic testing for melanoma promotes early detection, personalised screening, and preventative behaviours without causing psychological harm. However, access to testing is limited, thus alternate models-of-care are needed.

About the study:

This study aims to:

  • Establish a novel model of care, offering genetic testing for melanoma in a mainstream dermatology setting

  • Upskill dermatologists to provide genetic testing for familial melanoma 

  • Evaluate whether provider type (i.e., upskilled dermatologist vs genetic counsellor) of melanoma genetic testing impacts patients test-related satisfaction, melanoma related worry and sun-protective behaviours

  • Evaluating the cost-effectiveness of mainstreaming melanoma genomic testing

Contact us: igmgenomics@uq.edu.au

Research outputs

Publications

  1. Primiero CA, et al. (2021) A Systematic Review on the Impact of Genetic Testing for Familial Melanoma II: Psychosocial Outcomes and Attitudes. Dermatology. 237(5):816-26. https://doi.org/10.1159/000513576

  2. Primiero CA, et al., (2021) A Systematic Review on the Impact of Genetic Testing for Familial Melanoma I: Primary and Secondary Preventative Behaviours. Dermatology. 237(5):806-15. https://doi.org/10.1159/000513919

  3. Primiero et al. (2022) Attitudes of Australian dermatologists on the use of genetic testing: A cross-sectional survey with a focus on melanoma. Frontiers Genetic. 919134. https://doi.org/10.3389/fgene.2022.919134

  4. Primiero CA, et al., Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma. PLoS One. 17(12):e0275926. https://doi.org/10.1371/journal.pone.0275926

In the news

Australasia’s first Familial Melanoma Clinic at PA Hospital taking genetic testing to the next level

Funding

Queensland Health Office of Research Innovation

The Metro South Health Research Support Scheme