Is it time for dermatologists to learn genomics?
Friday, 12 May, 2017
Researchers at the (UQ) have reviewed the key genes affecting pigmentation, in what could be the first step towards using genomics to identify patients genetically predisposed to skin cancer.
The research team included Associate Professor Rick Sturm, from UQ鈥檚 Dermatology Research Centre, who said the future of clinical practice will be directed towards personal or precision medicine.
鈥淭his will require clinicians to understand their patients鈥 genetic background, so we really needed a primer for the dermatologists on the genes they should know about,鈥 he said.
Published in the journal , the review gives an overview of 15 genes which affect pigmentation of the skin, eyes and hair or melanoma risk. As explained by Dr Sturm, 鈥淭hese include the most important genes for pigment which, when they are mutated, have a manifestation of genetic disease.
鈥淒ermatologists might already have some knowledge of the gene associated with red hair and freckling, which is , but there are many others.鈥
Dr Sturm said there are now three major genes associated with naevi or moles.
鈥淥ne of these genes 鈥 IRF4 鈥 has a big effect on naevi count, and recently it鈥檚 been suggested the gene can have a significant effect on the type of melanoma a patient may get,鈥 he said.
鈥淭his gene usually affects a patient鈥檚 presentation in the clinic 鈥 they have lots of moles as children and not so many as adults, and they get their melanoma later in life.
鈥淚n the future, clinicians will have to know the genes affecting their patients鈥 pigmentation and naevi presentation, and that will affect how they examine or treat them.鈥
Dr Sturm noted that there has been 鈥渞apid progress鈥 in recent years in our knowledge of the genetics underlying skin cancer and pigmentation, but little means of keeping dermatologists updated.
鈥淥ur review is a stepping stone to incorporating genomics into the clinic to identify the patients that need management and surveillance,鈥 he said.
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