Genetic conditions

Genetic testing understanding and uptake is a slow burn in dermatology


Many dermatologists don’t see that genetic testing is relevant to their current practice, according to a nationwide survey of the profession.

The survey, conducted last year and presented at the recent ACD ASM, found only 44% of the 256 respondents agreed or strongly agreed that genetic testing was relevant to their current practice.

However many more dermatologists (84%) agreed that genetic testing would be relevant for their future practice.

PhD candidate Clare Primiero, from the Dermatology Research Centre at the University of Queensland, told the limbic the results weren’t entirely unexpected given that dermatologists were not ordering genetic testing frequently.

Yet there were good reasons for taking advantage of genetic testing.

She said the CDKN2A mutation, for example, increased the lifetime risk of melanoma to 55-70% compared to the Queensland average lifetime risk of about 6%.

“So it’s quite a significant leap and then also this type of mutation is inherited in an autosomal dominant manner so all first degree relatives then have a 50% chance of all having that same mutation.”

Ms Primiero said a systematic review of the evidence in familial melanoma showed that when a person is informed by genetic testing that they are at much higher risk of melanoma, there is a modest increase in sun protective behaviours and screening adherence.

Yet another systematic review refuted long held concerns that genetic test results might be too distressing for some patients.

“That review found that there was little to no adverse psychosocial impacts of genetic testing.”

The survey found most respondents said they had previously discussed (96%) or offered (91%) genetic testing but fewer had actually ordered such tests. The majority of dermatologists (63%) ordered tests less than 5 times a year while 29% reported never ordering testing.

Ms Primiero said the survey revealed that dermatologists who never or rarely used genetic testing either felt it was not relevant to their practice, was not their role or they didn’t have access to genetic testing services.

“The costs definitely came up as well. A number of people brought up concerns about cost such as who pays for it.”

Almost two thirds of respondents reported no prior training in genetics.

She said that part of the motivation behind the survey was to inform the development of training materials on genetic testing.

“Genetic testing needs to be given with informed consent as well. I think a lot of the concerns are they haven’t been trained in that and the other concern of course is insurance discrimination.”

She said the survey also showed that dermatologists don’t have much knowledge on what protections are in place for patients.

“For instance there is some protection in place but if you are applying for a new policy for life insurance for over $500,000, insurers can ask about genetic test results and about genetic test results for first degree relatives as well.”

“So there is room there for genetic discrimination…Australia is a bit behind America, Canada and most of Europe who have a lot more protections in place than other countries including Australia.”

She said the survey confirmed dermatologists wanted further training in genetic testing or educational resources. Face-to-face courses were the most preferred learning modality and there was a preference for it to be offered through the College.

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