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

Dr. Murray

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. 

Citation:

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

Sep 22, 2018 @ 12:11 pm

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