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Publish Date: 
Wednesday, July 8, 2020 - 09:15

Improving genetic testing for skin cancer

Genetic researcher and counsellor, Dr Aideen McInerney-Leo is leading a series of multifaceted studies aimed at improving genetic testing for skin cancer.

  • Searching for an array of genes that can increase a person’s risk of developing the disease, in particular melanoma
  • Trialling a world-first program to train dermatologists to provide genetic testing
  • Running a study to evaluate the psychosocial impact of genetic testing, which is part of a bigger study of assessing genetic testing and patient education tools

Based at TRI with The University of Queensland Diamantina Institute, Dr McInerney-Leo is interested in every aspect of genetic testing. Through her work, she wants to help mainstream genetic testing and empower patients.

According to Dr McInerney-Leo, interactions with patients continually shape her research questions and fuel her enthusiasm for the importance of clinical research.

“When it comes to my research it’s patients and their families that motivate me,” she says.

“I really want to empower both clinicians and patients to make informed decisions about genetic testing and assess the impact of those tests on people’s psychological wellbeing and health behaviours.”

As you would expect from a genetic researcher, Dr McInerney-Leo and her team are delving into the genetics of skin cancer, searching for an array of genes that can increase a person’s risk of developing the disease, in particular melanoma.

“I’m really motivated to help people get an answer, and that includes finding new genes so individuals have a better understanding of their genetic risk,” says McInerney-Leo.

“When it comes to melanoma, we know that 55 per cent of melanoma is inherited but we have yet to identify most of the genes that are involved. My team and I are trying to uncover new genes, which are involved in melanoma, and understand how they modify risk.

Drawing on her many years in genetic counselling, Dr McInerney-Leo is hoping to increase the prevalence of genetic testing among Australians at risk of developing melanomas. To this end, her team is trialling a world-first program to train dermatologists to provide genetic testing.

“We are really pushing the envelope on mainstreaming genetic counselling through this trial,” says Dr McInerney-Leo.

“We are looking to upskill dermatologists so that they can offer genetic testing in their practice for patients with familial or heritable skin cancer.

“Routine genetic testing for skin cancer patients makes a lot of sense because if you know you learn that you have a genetic risk, you are in a great position to avoid sun exposure, use sun protective measures and get regular screening. All of these really limit the chances of the cancer developing, and if one does occur, ensures that it is removed at an early stage.

“Previous research shows that people aren’t distressed by having genetic testing for melanoma and it can actually improve their behaviour. They are more driven to take precautions, do self-examinations and see their dermatologist more regularly. However, there is a problem. There are simply not enough genetic counsellors and clinical geneticists available to offer testing all the melanoma patients who meet the personal and/or family history criteria. Approximately, 5-10% of the estimated 15,600 individuals diagnosed with melanoma in 2020 alone would be eligible for genetic testing.

“Therefore, we need more people in the front line offering testing. To do this well, we do need to train dermatologists so they feel confident and competent to discuss testing. That way there are no surprises for the patient when the results come in from the genetic test. It is very important that clinicians be able to talk through all the outcomes and the implications. They also need enough knowledge and training to identify those rare cases where they will need to bring in a genetic counsellor for a more in-depth discussion with the patient.

“I’m really driven to make sure genetic testing is introduced widely into clinical practice in a way that benefits patients and mitigates risks.”

Dr McInerney-Leo is also running a study to evaluate the psychosocial impact of genetic testing. It turns out that some of us are prone to ‘genetic fatalism’ i.e. the belief that the genetic contribution to a disease outweighs all other factors like lifestyle and environment.  

“When someone is told they have a genetic predisposition to melanoma, will they do everything they can to prevent getting the disease, or will they think they’re doomed and not employ protective behaviours like applying sunscreen?,” asks Dr McInerney-Leo.

“We see people assume that because they look like their dad, they’ll get the same condition he had, or think they are ‘off the hook’ because they look like mum.

“This way of thinking is particularly common in adult onset conditions like hereditary cancers or neurological conditions.

Dr McInerney-Leo suspects that genetic testing combined with education and counselling can shift people’s fatalistic beliefs.

In her study, Dr McInerney-Leo will offer members of high-risk melanoma families genetic testing and health education for melanoma genes. She, and her team, will use surveys to capture changes in risk perception, psychological wellbeing and health behaviours. Her aim is to learn the extent to which they can shift people’s behaviour and ultimately, develop a scale designed specifically to measure genetic fatalism.

The trial is part of a bigger study of assessing genetic testing and patient education tools.

As for the future, Dr McInerney-Leo hopes that being based at TRI will lead to her collaborating more widely on a range of other diseases with researchers involved in genetic testing on germline or somatic cells.

“It’s one of the nice things about being at TRI, there is such a diversity in medical research happening at the Institute. If you have a research idea there is bound to be someone in the building who is using, or has used, a relevant methodology. I’m really hoping to become involved in a lot more collaborations,” she says.

Additional copy for this story thanks to UQ Medicine.

Images: (Banner): photo by Chermiti Mohamed from Pexels; Inaurguarl team meeting for Dr Aideen MCInerney-Leo and her team including DrTatiane Yanes, Erin McMeniman and Claire Primiero; Cartoon by Danika Wadey, @deewadey_art

About Dr McInerney-Leo BSc, MSc (Genetic Counselling), PhD

An NHMRC Early Career Fellow with The University of Queensland Diamantina Institute, Dr McInerney-Leo is a clinician-academic whose interactions with patients has shaped her research questions and fuelled her enthusiasm for the importance of clinical research.

Born and raised in Ireland, Dr McInerney-Leo moved to London to study for a Bachelor of Science at the University College London. During her undergraduate studies, Dr McInerney-Leo realised she wanted to work in genetics with children and began working as a research assistant with the Institute of Child Health at the University of London. Dr McInerney-Leo gained a Master of Science in Genetic Counselling with The University of Manchester. Following this, Dr McInerney-Leo moved to the United States, where she conducted research at the National Institutes of Health for eight years and was Associate Director of the Master of Genetic Counselling program at Johns Hopkins University.

Dr McInerney-Leo relocated to Brisbane in 2006 where she initially practiced clinically. In 2011, she returned to clinical research at The University of Queensland Diamantina Institute and completed her PhD on the analysis of whole exome sequencing for rare disorders. Her first post-doctoral position was with QUT focusing on genomics education, genomics research and facilitating the integration of genomics into healthcare. In January 2019, Dr McInerney-Leo commenced an NHMRC fellowship at The University of Queensland on the genetics of melanoma and the psychological factors influencing risk perception and adherence.

Research projects

  • Using Exome sequencing to identify new genes in families with inherited melanoma, negative for mutations in known genes.
  • Mainstreaming Genetic Testing for Melanoma into Dermatology Practice.
  • Exploring whether genetic fatalism affects sun-related health behaviours in high-risk individuals following genetic testing.
  • Exploring the referral journey to genetic services for individuals with rare diseases
  • Assessing Human Research Ethics Committee (HREC) members' confidence in reviewing genomic research applications.

Recent journal publications

Graphic: Created by Danika Wadely. View her art on Instagram @deewadey_art