Germ-line mutations

Like 2 years ago, the panellists were asked to vote on the advisability of genetic testing for high risk (germ-line) mutations after counselling for several subtypes of patients with early breast cancer. In general, the panellists were more inclined to advise genetic testing compared to 2 years ago. There was absolute consensus (100% of the panellists voted “yes”) that all patients with a strong family history should be offered genetic testing. In addition, almost all panellists (96%) endorsed genetic testing in all patients who are younger than 35 years. A vast majority of the panellists (85%) was in favour of genetic testing in all patients with triple-negative breast cancer who are 60 years or younger at the time of diagnosis. However, only 39% of the panellists endorsed genetic testing in all patients with triple-negative breast cancer (regardless of their age); 33% of the panellists endorsed genetic testing in all patients with breast cancer who are younger than 50 years and 29% of the panellists took the view that all patients with breast cancer (regardless of age and/or type of breast cancer) should be offered genetic testing. One of the panellists who was in favour of offering genetic testing to all patients with breast cancers argued that all guidelines about genetic testing are aiming on a moving target: the number of mutations that are of clinical importance in breast cancer is still rising and genetic testing is becoming increasingly broader and cheaper. As a result, the threshold for genetic testing is lowering.



Posted on 21 May 201915 March 2021