22 Sep Most Patients Who Carry BRCA1/2 Pathogenic Variants Are Unaware
MedicalResearch.com Interview with:
Michael F. Murray, MD, FACMG, FACP
Director for Clinical Operations in the Center for Genomic Health
Yale School of Medicine
MedicalResearch.com: What is the background for this study?
Response: Population screening for the cancer risk associated with the BRCA1 and BRCA2 genes has been suggested by some. We screened a cohort of about 50,000 adult patient volunteers at Geisinger Health System in Pennsylvania for this risk.
MedicalResearch.com: What are the main findings?
Response: We found that approximately 1 in 200 people had a pathogenic variant in either BRCA1 or BRCA2. Of the group of participants with this cancer risk, only 18% knew they had this cancer risk before the study, and 82% found out for the first time through this genomic screening approach.
MedicalResearch.com: What should readers take away from your report?
Response: Current clinical approaches to identifying this risk within healthcare appear to miss a very large majority of cases.
MedicalResearch.com: What recommendations do you have for future research as a result of this work?
Response: The long-term outcomes of people identified in this manner need to be studied.
MedicalResearch.com: Is there anything else you would like to add ?
Response: We thank the patient volunteers that made this work possible
This work was funded through institutional support at Geisinger, through a Geisinger-Regeneron collaboration, through the RWJF, and the Mericle Foundation.
Manickam K, Buchanan AH, Schwartz MLB, et al. Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants. JAMA Network Open. 2018;1(5):e182140. doi:10.1001/jamanetworkopen.2018.2140
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