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Genetics and its role in melanoma risk

Saturday 15 August 2020

How much of a role does genetics play in Melanoma?

Genetics and its role in melanoma risk

University of Queensland Dermatology Research Centre (DRC) researcher Dr Aideen McInerney-Leo is on a mission to raise awareness of the role genetics plays in melanoma risk.

With 1 in 10 men and 1 in 17 women in Queensland being diagnosed with melanoma in their lifetime, the genetic counsellor feels growing awareness of the role genetics plays in melanoma development has the potential to save thousands of lives.

"Everybody talks about the role of the sun in melanoma risk, and rightly so, because we know that UV-exposure is associated with increased risk, what fewer people realise is the role that genetics plays in our melanoma risk," she said.

"Twin studies have shown that about 55 per cent of our melanoma risk is due to a person's genetic background."

UQ DRC Researcher, Dr Aideen McInerney-Leo

Previous research has shown that when people are offered genetic testing it changes their sun related behaviour for the better, including reducing their UV exposure, increasing their use of sunscreen and keeping a better eye on their skin, resulting in melanomas being identified earlier and leading to better outcomes.

Dr McInerney-Leo said a key goal for her is expanding testing to the extended families of patients with melanomas through by training dermatologists to offer genetic testing.

"We know that, in high-risk individuals, regular surveillance results in earlier detection, which improves the prognosis and saves lives," she said.

"Furthermore, we then offer testing to their at-risk family members to make sure that they get the appropriate level of surveillance.

"This is important because doctors closely follow people who have already been diagnosed with melanoma, but their family members are not always followed as carefully."

A primary focus for Dr McInerney-Leo is the integration of genetic testing into dermatology clinics so that more people who are eligible for testing are able to access it and in turn genetic health services can grow.

"Dermatologists are already seeing melanoma patients, so they are the ideal people to offer genetic testing for this disease. At the PA Hospital campus, we are conducting a cutting-edge research study which involves training dermatologists to offer genetic testing to high-risk individuals," she said.

"If this study shows that consumers are satisfied and are not psychologically distressed, whether they receive genetic testing from a dermatologist or a genetic counsellor, then we would have strong evidence for rolling out this training for dermatologists throughout Australia.

"This would result in genetic testing being mainstreamed into dermatological practice, which would democratise access. This, in turn, should improve sun-protective behaviours in high-risk individuals, thus decreasing their risk of developing melanoma and ensure optimal surveillance which will increase the probability of any melanomas being detected as early as possible.

"This will mean fewer melanomas overall and a better outcome for those diagnosed which aligns with the DRC's goal of a World Without Melanoma."

Importantly for the public genetic testing for melanoma has become increasingly more affordable and pain free as it is just a bit of saliva in a tube.

Dr McInerney-Leo said PA Research Foundation funding has been crucially important to the ongoing research of the DRC. It has supported their work to save the lives of cancer patients and prevent more Queenslanders from developing high-risk melanomas and skin cancers by allowing the team to be agile and stay on the cutting edge of research by hiring staff for short term projects which advance their work and allow them to apply for further funding and government grants.

Working at the Translational Research Institute at the PA Hospital Campus is a unique opportunity for a medical researcher like Dr McInerney-Leo.

"Working at the TRI is amazing, everybody who works there feels so incredibly fortunate because we have this beautiful building that has all the amenities possible that you could imagine.

You also have all these brains in one spot, so if you come up with an idea someone will invariably say 'do you know such and such on level three they are doing just that right now', and you go and collaborate with them, so it just facilitates collaboration," she said.

"Having the hospital right there means it keeps to the forefront of our minds that it's important not to get esoteric and get caught up in the academic side of things, you're always thinking how does this translate, how can we impact clinical care.

Aideen emphasises that ongoing public support of all medical research is vital, especially with the changing funding landscape this year. "In 2020 some government grant schemes for general medical research were cancelled and there were specific calls for COVID-19 research instead. This is 100% understandable in these unprecedented times, however, for those of us who are working in other disease areas, such as cancer, the competition for research funding became even more challenging. This means that public support is more crucial than ever.

"In recent months, despite fears and anxiety, we have had an overwhelming sense of the community coming together for the greater good. Hopefully, we will see the same spirit evident in the support of medical research now, and continuing into the future. We are incredibly proud of all we have achieved at DRC to date and excited about extending this research to make a difference in the lives of individuals with melanoma and their families. "

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