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Genetics
It ’ s in the Genes . Or Is It ?
We all hear about the value of genetic testing . Genetic pathologist Dr James Harraway provides some insights on where genetic testing sits in the scheme of things .
Dr James Harraway , on the Genetics Advisory Committee of the Royal College of Pathologists of Australasia ( RCPA ), is one of about a dozen genetic pathologists nationally . RCPA has recently reported that the 39 labs that do DNA or RNA testing in Australia have been trying to cope with a 27 % increase in test volume and a 5 % increase in the type of genetic tests per year . “ Genetic pathology is a relatively new subspecialty . It ’ s a small field that is hopefully growing , with a small number [ seven , nationally ] going through training now ,” he highlighted , adding that consultant positions were limited .
Genetic testing , while black and white in some cases , has focussed doctors on a growing number of interpretive tests , where good advice on the possible meaning of test results can be as important as the test itself . In fact , formal genetic counselling and informed consent is a prerequisite before doing some genetic tests . This explains the emerging role of clinical geneticists and the decisions James grapples with regularly in his lab .
“ For a lot of single gene inherited disorders that might be late onset or severe , there is a requirement that informed consent be obtained by a specialist in this area , a clinical geneticist in most cases , to discuss implications for the patient and family members . This is for things like Huntington ’ s chorea or breast or ovarian cancers – BRCA1 or BRCA2 mutations . Additional post-test counselling is important as results can be complex or ambiguous – for example the ‘ variants of uncertain clinical significance ’ that are sometimes found .”
“ Most days we will receive a test request from say , a GP or surgeon , because a patient mentions a family history and the doctor writes the disorder on the request form . Often the patient isn ’ t as informed about the test ramifications as they should be . Occasionally , colleagues are really clued up on it , but laboratory accreditation by NATA stipulates for some complex tests – level 2 tests – the patient must have written informed consent , and the test has to come from a specialist in the area ” he explained . If circumstances indicate , he would ring the doctor to discuss some of the complexities and potential referral to a specialist .
www . lawleypharm . com . au
��Genetic Pathologist Dr James Harraway
Genetic tests are now so subspecialised , only one or two labs across Australia may test for a specific inherited disorder . Some rare disease tests are sent overseas . This is why James has regular contact with WA clinicians while working from Sullivan Nicolaides Pathology ( part of the Sonic group ) in Brisbane .
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