19 Feb BRCA1/BRCA2 Testing Varies Widely Worldwide

MedicalResearch.com Interview with:

Dr. Toland

Amanda Toland, PhD,
Cancer biology and genetics researcher of
The Ohio State University Comprehensive Cancer Center — Arthur G. James Cancer Hospital and Richard J. Solove Research Institute

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: The Breast Information Core (or BIC) is a database that catalogs BRCA1 and BRCA2 sequenced variants.  The BIC is hosted by the National Human Genome Research Institute at NIH and has a steering committee that oversees the BIC and has members from Europe, the middle East, Australia and the US.  In BIC SC discussions, we learned that there are differences in how BRCA1/2 clinical is testing between countries.

To characterize this variation, we performed an international survey of 86 genetic testing labs from around the world.

Our main findings are that there were many variations between testing laboratories.  These include: technologies differed for finding “large” genetic sequence variants, what parts of the genes were assessed, how genetic variants were classified as disease associated or not being associated with diseases, if genetic sequencing information was shared in public databases and testing volume.

MedicalResearch.com: What should readers take away from your report?

Response: There is a lot of variability in what “BRCA1/BRCA2” testing is between different laboratories in different parts of the world. Thus, results are not equivalent.

MedicalResearch.com: What recommendations do you have for future research as a result of this work?

Response: Future research could better characterize the process by which laboratories classify genetic variants as being associated with disease (pathogenic) or not being associated with disease (benign) and variations between laboratories around the world. 

MedicalResearch.com: Is there anything else you would like to add?

Response: All laboratories should consider sharing their sequence data to enable better classification of genetic variants and should display technological details about their tests to add clinicians in choosing a testing laboratory.  National agencies that oversee quality of clinical testing could use data from this study to develop quality guidelines for testing,

No disclosures 

Citations: 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: 1038/s41525-018-0046-7 

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Last Updated on February 19, 2018 by Marie Benz MD FAAD