Global protocols and standards are surprisingly inconsistent when it comes to analyzing cancer susceptibility genes BRAC1 and BRAC2 variations, revealed survey results.
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.
"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.