1 in 17 Australians will be diagnosed with melanoma in their lifetime and 10% of those will have a significant family history. A number of genes are associated with autosomal dominant melanoma and 90% of mutation positive families carry a variant in CDKN2A. Personal and family history information can assist in identifying those at greatest risk.
First-degree relatives of CDKN2A mutation carriers have a 50% risk of inheriting the variant and, if positive, a 52% lifetime risk of developing melanoma. As targeted surveillance of high risk individuals is associated with earlier detection, genetic testing has the potential to reduce morbidity and mortality.
Genetic testing for CDKN2A has been offered through clinical genetics services and research studies for twenty years. As CDKN2A is a small gene, there is a minimal risk of identifying a variant of uncertain significance which makes result interpretation straightforward. Studies have found that the testing process and result disclosure causes minimal, if any, distress. Furthermore, sun protective and surveillance motivation improved.
Melanoma genetic testing panels are now affordable and clinically available to all clinicians. As the demand for genetic testing and genetic counselling services has increased dramatically over the past 5-10 years, CDKN2A testing seems like an obvious candidate genetic test to mainstream into other disciplines. This presentation will review the indications for testing, what needs to be discussed with patients prior to testing, the types of results clinicians can expect, how to disclose them to patients and follow up surveillance.