WHEN TO GO FOR TESTING
Ask your health professional about gene testing if:
You have a proven family history of breast or ovarian cancers. “About 5-10% of cases of breast and 10-20% of ovarian cancers are associated with mutations in either BRCA1 or BRCA2 genes,” Kinnear says.
You have a family history of X-linked diseases. These range from Addison’s and albinism to haemophilia and muscular dystrophy.
“You have a rare disorder and have been on a diagnostic odyssey without definitive diagnosis”, as Kinnear puts it. Testing may provide an answer. The benefits of genetic testing for medical conditions are that for single gene disorders, testing can detect disease before the onset of symptoms. “Armed with this knowledge, you’re able, with the help of genetic counsellors and physicians, to make informed medical and lifestyle decisions,” Kinnear adds. The outcomes can be life-changing, so pre-and post-test genetic counselling is critical. And remember: no test is a guarantee that you’ll be healthy forever. “We worry only if a woman has already had cancer in one breast before age 35, or has two immediate relatives who had it before menopause or who had ovarian cancer before the age of 30,” says Professor Justus Apffelstaedt, head of the Breast Clinic at Tygerberg Hospital.