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Labs differ widely in BRCA testing protocols

Researchers call for global standards to increase accuracy of test results

Date:
February 15, 2018
Source:
The Ohio State University Comprehensive Cancer Center
Summary:
A new article showcases the wide differences in BRCA testing protocols at labs around the world. The article surveyed 86 laboratories around the world about their BRCA testing practices and found that all the labs differed widely in their approach.
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FULL STORY

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."


Story Source:

Materials provided by The Ohio State University Comprehensive Cancer Center. Note: Content may be edited for style and length.


Journal Reference:

  1. Amanda Ewart Toland, 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, Lawrence C. Brody. Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices. npj Genomic Medicine, 2018; 3 (1) DOI: 10.1038/s41525-018-0046-7

Cite This Page:

The Ohio State University Comprehensive Cancer Center. "Labs differ widely in BRCA testing protocols." ScienceDaily. ScienceDaily, 15 February 2018. <www.sciencedaily.com/releases/2018/02/180215162215.htm>.
The Ohio State University Comprehensive Cancer Center. (2018, February 15). Labs differ widely in BRCA testing protocols. ScienceDaily. Retrieved June 16, 2024 from www.sciencedaily.com/releases/2018/02/180215162215.htm
The Ohio State University Comprehensive Cancer Center. "Labs differ widely in BRCA testing protocols." ScienceDaily. www.sciencedaily.com/releases/2018/02/180215162215.htm (accessed June 16, 2024).

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