Panel Testing Identifies More Management-Changing Genes Than BRAC1/2 Alone

Leif W. Ellisen, M.D., Ph.D Professor of Medicine, Harvard Medical School Program Director, Breast Medical Oncology Co-Leader, Breast Cancer Program MGH Research Scholar MGH Cancer Center  Boston, MA 02114MedicalResearch.com Interview with:
Leif W. Ellisen, M.D., Ph.D
Professor of Medicine, Harvard Medical School
Program Director, Breast Medical Oncology
Co-Leader, Breast Cancer Program
MGH Research Scholar MGH Cancer Center
Boston, MA 02114

Medical Research: What is the background for this study? What are the main findings?

Dr. Ellisen: The traditional approach to genetic testing for women with suspected hereditary breast and/or ovarian cancer risk is to test for BRCA1 and BRCA2 alone. Recent studies have shown that testing with a multi-gene panel finds relevant risk gene mutations in substantially more women than does testing for BRCA1 and BRCA2 alone. However, one of the concerns about broader multi-gene testing has been that the results really wouldn’t change what you told women about their risk and management – either because the risk associated with the other genes may not be as high as for BRCA1/2, or because the clinical practice guidelines associated with some of the other genes are less specific.

Our study sought to determine how often testing such women using a multi-gene panel would find mutations in genes other than BRCA1/2, and more importantly to ask whether finding those mutations would change how you would manage the patient and their family. We found that multi-gene panel testing finds relevant risk gene mutations in substantially more women (approximately 40% more) than does testing for BRCA1 and BRCA2 alone. Furthermore, in a case-by-case analysis we showed that finding mutations in these other genes is likely to change the clinical management that is considered or recommended for the majority of the mutation-positive women and their families.  Notably, our analysis of the predicted management change is based not just on the gene mutation alone, but on how the gene appears to be behaving in that particular family.

Medical Research: What should clinicians and patients take away from your report?

Dr. Ellisen: Multigene panel testing for patients with suspected hereditary breast and/or ovarian cancer identifies substantially more individuals with relevant cancer risk gene mutations than does BRCA1/2 testing alone. Identifying such mutations is likely to change management for the majority of these individuals and their families in the near term, and in the long term should lead to development of effective management guidelines and improved outcomes for at-risk individuals.

It is important to note that multi-gene genetic testing is not appropriate for everyone, and is most useful where personal and family histories suggest hereditary cancer, which is not the case for most individuals with breast and ovarian cancer.

Medical Research: What recommendations do you have for future research as a result of this study?

Dr. Ellisen: The next step, which is a long-term project, is to show how and whether recommendations made based on this testing lead to earlier detection, cancer prevention, and improved survival.  These future studies will also help us refine and modify the gene-based management recommendations over time.  We have been testing for BRCA1/2 for over 15 years, and the outcome studies and modifications of management guidelines are still ongoing.

Citation:

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Leif W. Ellisen, M.D., Ph.D (2015). Panel Testing Identifies More Management-Changing Genes Than BRAC1/2 Alone 

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