Increasing availability of genetic tests for at-risk cancer patients

Sep 28 2015

Mutations in the BRCA 1 and BRCA 2 genes are very likely to lead to a form of cancer in people who have them. These mutations can be detected using a genetic test. The introduction of a new drug has improved treatment options and this, coupled with increased awareness and improved access, increased the number of genetic tests carried out at the MedUni Vienna last year by a factor of five. As a result, more at-risk patients are picked up and early prevention measures can be commenced.

Germline mutations in one of two breast cancer genes BRCA1 or BRCA2 increase the risk of cancer for both genders, however women are particularly affected. Women have an 87 per cent chance of developing breast cancer at some stage in their life and around a 50 per cent chance of developing ovarian cancer. According to estimates, between 400 and 700 women in Austria have this mutation.

A molecular genetic test for this germline mutation has been offered at the University Department of Gynaecology at the MedUni Vienna and Vienna General Hospital for almost 20 years. Although until recently genetic testing was used exclusively to identify women with a BRCA mutation and to offer them a personalised form of early detection or offer preventative surgery (film star Angelina Jolie, for example, had her breast tissue preventatively removed after testing positive for the BRCA mutation), a positive mutation result now also has consequences for treatment thanks to the development of a new generation of cancer drugs. Medications containing the new ingredient Olaparib can produce significant improvements in treatment for patients with ovarian cancer with BRCA mutations.

Free genetic test ensures certainty
Since these mutations can be inherited, the costs of the very expensive test have only been covered so far for people who already have a history of cancer in their family. The new development means that women with ovarian cancer are able to arrange these tests even if there is no family history of cancer. "For patients with ovarian cancer who have this mutation, this drug is now available that promises major successes in terms of treatment," explains Christian Singer, gynaecological oncologist at the University Department of Gynaecology at the MedUni Vienna. "As a result, we now also test these patients for these mutations."

Austria-wide system as a model project for Europe
By offering this test across Austria, the MedUni Vienna is adopting a pioneering role. 80 cancer counselling centres (hospitals, clinics) across Austria send blood samples for testing to the MedUni Vienna's University Department of Gynaecology at the Vienna General Hospital. "The centralised conduction of these tests and the low threshold for access are quite unique in Europe," explains Christian Singer. "This, coupled with the fact that the health insurance providers are now also paying for patient with ovarian cancer to have the test, means that we are now carrying out five times as many tests as we have in the past." The data collected from these tests is being analysed at the MedUni Vienna in numerous scientific research projects.

Five research clusters at the MedUni Vienna
There are a total of five research clusters at the MedUni Vienna. The MedUni Vienna is increasingly focusing on fundamental and clinical research in these areas. The research clusters include medical imaging, cancer research / oncology, cardiovascular medicine, medical neurosciences and immunology. Breast genetic counselling at the University Department of Gynaecology falls under the remit of the Cancer Research / Oncology cluster.