New Report Labs Differ Widely in BRCA Testing Protocols

February 16, 2018
Genetic testing at The OSUCCC James

COLUMBUS, Ohio – An international survey of genetic testing labs shows that – despite the availability of BRCA1 and BRCA2 testing for more than two decades – global protocols and standards are surprisingly inconsistent when it comes to analyzing cancer susceptibility genes and their many variations.

A multi-institutional team led by Amanda Toland, PhD, of The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James) surveyed 86 genetic testing laboratories around the world to better understand their testing practices for BRCA1/2, known cancer susceptibility genes linked the types of breast and ovarian cancer passed down through families.

The vast majority of responding labs — 93 percent — used modern next-generation sequencing technologies that allow for simultaneous screening of multiple genes in a single, advanced test. Just six relied on Sanger sequencing methods, the traditional approach used for genetic testing prior to the availability of advanced genomic testing tools like next-generation sequencing.

Overall, researchers found that laboratories differed widely in their approach to analyzing BRCA — including in the extent of variant confirmation, whether non-coding DNA regions were sequenced and the techniques used to detect large genomic rearrangements that could provide clues about future cancer risk.

“This is important because it means that patients could be getting a different level of accuracy in their genetic results, based on the level of testing beyond baseline BRCA1/2 testing – there are variants of these cancer susceptibility genes that could be missed by some approaches and which are important to know about in terms of overall cancer risk,” says Toland. “Global best-practice guidelines for BRCA testing are needed to ensure consistency in testing for patients, regardless of where they obtain their testing.”

Survey results are reported in the Feb. 15, 2018, edition of the scientific journal, NPJ Genomic Medicine. Collaborators in the study: Andrea Forman, Fergus J. Couch,Julie O. Culver,Diana M. Eccles,William D. Foulkes,Frans B. L. Hogervorst,Claude Houdayer,Ephrat Levy-Lahad,Alvaro N. Monteiro,Susan L. Neuhausen,Sharon E. Plon,Shyam K. Sharan,Amanda B. Spurdle,Csilla Szabo,and Lawrence C. Brody. The study was supported by the Intramural Research Program of the National Human Genome Research Institute, the Intramural Research Program, Center for Cancer Research, National Cancer Institute, the Florida Breast Cancer Foundation, the Australian National Health and Medical Research Center (NHMRC) the Morris and Horowitz Families and the Canadian Institute for Health Research.


About the OSUCCC – James
The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute strives to create a cancer-free world by integrating scientific research with excellence in education and patient-centered care, a strategy that leads to better methods of prevention, detection and treatment. Ohio State is one of 49 National Cancer Institute-designated Comprehensive Cancer Centers and one of only a few centers funded by the NCI to conduct both phase I and phase II clinical trials on novel anticancer drugs. As the cancer program’s 308-bed adult patient-care component, The James is one of the top cancer hospitals in the nation as ranked by U.S. News & World Report and has achieved Magnet ® designation, the highest honor an organization can receive for quality patient care and professional nursing practice. With 21 floors and more than 1.1 million square feet, The James is a transformational facility that fosters collaboration and integration of cancer research and clinical cancer care. For more information, visit

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