The argument that genomic testing for detection of breast cancer should only be offered, if its clinical validity has been established, has been brought forward by researchers in the paper published in the New England Journal of Medicine on Wednesday.
The paper attempted to shed light on the irrelevance of conducting large tests, as many as 100 genes, for detection of breast cancer, when only 7 genes were associated to it. The US Centers for Medicare and Medicaid Services has issued a draft statement which says large panel testing for BRCA genes which include genes which has no relevance to the patient ‘are necessary and not reasonable’.
At present, tests being conducted by a number of companies include Ambry Genetics, Myriad Genetics Inc and Invitae and Illumina Inc. These firm test up to 100 inherited cancer genes, which includes around 20 for breast cancer. In other words, mostly 80% of the genes tested, have no relation, with breast cancer whatsoever.
Douglas Easton, a cancer epidemiologist from the University of Cambridge, UK, said that testing genes that have no close linked to breast cancer and giving a report about the results to patients might give a false idea of risk involved.
The argument comes at the back of the June 2013 US Supreme Court’s decision, in which patents of the BRCA1 and BRCA2, two well-characterized genes that put a woman at high risk for ovarian, breast and other cancers, held by Myriad were invalidated. It is also an effort to control laboratory developed diagnostic tests that are not currently required to prove the clinical utility or validity by the US FDA.
Thus, by ensuring that only genes which are relevant are tested for cancer detection, great savings of time, money and effort are made.