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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

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