How BRCA Gene Datashare Helps Detect Breast Cancer Risk
Results of genetic tests that indicate whether you’re at a higher risk for breast cancer likely will become more clear, thanks to a new data-sharing program.
Quest Diagnostics Inc., an international diagnostic-testing services and information provider, has paired with the French Public Health Institute, Inserm, to launch BRCA Datashare. Though it isn’t the first of its kind, according to Courtney Rice MS, licensed genetic counselor for TriHealth, BRCA Datashare will allow more testing sites to share information on whether certain genetic variations increase a person’s risk for cancer.
A woman’s risk of developing breast or ovarian cancer is greatly increased if she inherits a harmful mutation in the BRCA1 or BRCA2 gene, but not all variations are harmful.
Genetic Testing: It’s individualized
At TriHealth, genetic counselors take every family and genetic test on a case-by-case basis, depending on your results.
So you’re probably wondering: What genetic testing results could I get?
The mutation is clearly related to an increased risk for breast, ovarian or another type of cancer.
No mutation or variant has been identified.
Variant of uncertain significance:
This means the lab has identified a genetic variation, but it’s unclear, based on current data available to the lab, whether the variant increases cancer risk or is just a benign variation that causes no harm.
Genetic Variants: Why Data Sharing is Critical
At TriHealth, if a patient has a variant result, the first thing a counselor will do is go to the lab that performed the test and ask for all the information that lab has accumulated about that particular genetic variance.
This is where data sharing comes in. “Now, other labs, such as Quest Diagnostics, are interested in freely sharing genetic variance across labs – and even within research labs – to help identify whether these variant results are truly serious or a normal variation,” Courtney points out. “As a whole, having labs share their findings between labs is great and hugely helpful for re-classifying these variants.”
If you have had a genetic variant, Courtney also recommends contacting your genetic counselor, or whoever did your testing, on an annual basis to see if there have been any updates to your particular variant. “It encourages me, as a genetic counselor, to seek out information and not just wait on the labs to be informing us of these new findings,” Courtney explains.
A reclassification isn’t always a bad thing, either. Sometimes variants are reclassified into a normal result, meaning your risk for a certain type of cancer is lower.
Last Updated: April 22, 2015