- Clinically Trialled- Trusted- Quality
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.
Hormone Solutions
Scrotal Testosterone for Men Delivering Consistent Reliable and Effective Results
- Clinically Trialled- Trusted- Quality
Lawley Pharmaceuticals 2 / 15A Harrogate St, West Leederville, WA 6007 phone: 1800 627 506 or 08 9388 0096 email: info @ lawleypharm. com. au
42 medicalforum