Monitoring Techniques for Hereditary Breast and Ovarian Cancer Being Developed
Colin G. Evans, PhD
Published Online:11:33 AM, Tue January 12, 2016
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"Multigene panel testing, like myBRCA HiRisk, is primarily recommended for patients that fall in a high-risk category, especially those who tested negative for BRCA1 and BRCA2 despite their high-risk profile. High-risk patients are likely already talking with their doctors about these kinds of testing options and the possibility of VUSs."- Joseph Thakuria, MD
- Joseph Thakuria, MD
Joseph Thakuria, MD
“Screening for BRCA1 and BRCA2 mutations, as offered through the myBRCA test, should be the first step in a HBOC cancer prevention regimen for most people," said Joseph Thakuria, MD, chief medical officer at Veritas Genetics, in a press release. He also said that patients in the high-risk category, “are served much better with the more comprehensive approach offered with our new myBRCA HiRisk multigene panel.”1
The test, currently priced at $299, requires a physician’s order and can be performed on blood or saliva samples at any Veritas Genetics CLIA-certified laboratory. The test also includes pre- and posttesting genetic counseling reports, which may be obtained from either Veritas Genetics or the healthcare institution ordering the test.1
The panel can detect germline mutations in any of the 26 genes tested, in addition to detecting mutations, BRCA1, BRCA2, and structural rearrangements in these genes. Veritas states the panel can detect genes that are associated with Lynch syndrome, Cowden syndrome, Li–Fraumeni syndrome, Peutz–Jeghers syndrome, Bloom syndrome, Fanconi anemia, and ataxia telangiectasis.1
The debut of the myBRCA HiRisk panel comes at a time of great intrigue and mild skepticism in multigene panel testing and the patient management options it affords.
“A concern with multigene panel testing that needs to be considered is the higher rate of variants of uncertain significance (VUS) and the fact that many of the genes we are looking at are involved in other forms of cancer,” said Thakuria.1
A recent study published in the Journal of the American Medical Association (JAMA) last year sought to address these concerns and clarify the likely impact of multigene panel testing on near-term screening and prevention recommendations. The authors expressed concerns that many of the genes being tested by panels are low-to-moderate risk, and that very often, consensus management guidelines are lacking or have only recently been formulated. The goal of this commentary was to demonstrate how use of multigene panel testing could change clinical management recommendations.1,2
Observational Study Utilizing Multigene Panels
An observational study at Massachusetts General Hospital Center for Cancer Risk Assessment, Stanford University Clinical Cancer Genetics Program, and Beth Israel Deaconess Medical Center Breast/Ovarian Cancer Genetics Clinic enrolled 1046 patients between 2001 to May 2014 at three academic medical centers. These patients tested negative for BRCA1 and BRCA 2 mutations, but were legitimate candidates for genetic risk evaluation for HBOC by current National Comprehensive Cancer Network criteria. All patients were asked to donate between 10 and 15 mL of blood on the first clinic visit, which were tested using multigene testing panels.2
The majority of participating patients were women (83%) with a personal history of breast and/or ovarian cancer, while the other 14% of those enrolled had no history of cancer. The testing found 3.8% (40 /1046; 95% CI, 2.8%-5.2%) of patients with BRCA1- and BRCA2-negative disease had other deleterious mutations, most often in moderate-risk HBOC genes (CHEK2, ATM, and PALB2) and Lynch syndrome genes. Further cancer screening and/or prevention measures beyond those recommended on the basis of personal or family history for the majority (33 of 63 patients) of patients with non-BRCA1- and BRCA2-mutation–positive disease (95% CI, 40.3%-64.2%) would be considered, in addition to testing of first-degree relatives.2 Thus, multigene panel testing may also improve clinical outcomes for families of the high-risk individuals.1
The majority of participating patients were women (83%) with a personal history of breast and/or ovarian cancer, while the other 14% of those enrolled had no history of cancer. The testing found 3.8% (40 /1046; 95% CI, 2.8%-5.2%) of patients with BRCA1- and BRCA2-negative disease had other deleterious mutations, most often in moderate-risk HBOC genes (CHEK2, ATM, and PALB2) and Lynch syndrome genes. Further cancer screening and/or prevention measures beyond those recommended on the basis of personal or family history for the majority (33 of 63 patients) of patients with non-BRCA1- and BRCA2-mutation–positive disease (95% CI, 40.3%-64.2%) would be considered, in addition to testing of first-degree relatives.2 Thus, multigene panel testing may also improve clinical outcomes for families of the high-risk individuals.1
A Positive Future
The study concluded that based on results from their clinically representative cohort, multigene panel testing for HBOC risk evaluation is likely to change clinical management for many more patients than BRCA1 and BRCA2 testing alone. Furthermore, the authors of the study stress that the scope of multigene panel testing ensures improved risk assessment and management for patients with mutations across a wide variety of cancer predisposition genes.2
“Multigene panel testing, like myBRCA HiRisk, is primarily recommended for patients that fall in a high-risk category, especially those who tested negative for BRCA1 and BRCA2 despite their high-risk profile. High-risk patients are likely already talking with their doctors about these kinds of testing options and the possibility of VUSs,” said Thakuria.1
“Multigene panel testing, like myBRCA HiRisk, is primarily recommended for patients that fall in a high-risk category, especially those who tested negative for BRCA1 and BRCA2 despite their high-risk profile. High-risk patients are likely already talking with their doctors about these kinds of testing options and the possibility of VUSs,” said Thakuria.1
References
- PR Web. Veritas Genetics Advances Access to Cancer Prevention with New Test for High-Risk Breast and Ovarian Cancer Patients. 2016. Available at: http://www.prweb.com/releases/2016/01/prweb13151942.htm. Accessed January 8, 2016.
- Desmond A, Kurian AW, Gabree M, et al. Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. JAMA Oncol. 2015;1(7):943-51.
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