Sadia Zapp knew she was at an elevated risk for breast cancer.
Zapps test came back negative, or at least, thats what her doctor shared with her.
At her oncologists urging, she requested the full results of the genetic test.
The word negative dominated the report.
But underneath, in smaller print, it said two variants of unknown significance had been detected.
The second I saw that I was like what?
I was just appalled, Zapp told Verywell.
Zapp said the test results could have been pivotal for the trajectory of her cancer journey.
Were doing a disservice to patients if we do not factor in variants of unknown significance, Zapp said.
In fact, only 5% to 10% of breast cancer is hereditary, according to the CDC.
Its important to conduct monthly breast self-examinations to check for lumps or tissue abnormalities in the breasts.
Women who are 40 years and older are recommended to receive bi-annual mammograms.
Some providers will treat VUS like other breast cancer risks, despite the uncertainties.
For this reason, some providers choose to share positive results with disclaimers or avoid sharing them at all.
Can Genetic Tests Detect Breast Cancer Risks Accurately?
Humans have more than 20,000 genes.
Robson said that with more research, scientists might find that most VUS are likely noncancerous.
Robson said he falls on the conservative end of the spectrum of cancer geneticists.
Shes now undergoing chemotherapy, then will get surgery followed by radiation.
Still, she said she wished her doctor had been more forthright about the VUS she carries.
Per the21st Century Cures Act,patients should haveaccess to all of their health records.
But when patients dont explicitly ask for that report, they may miss out on the full information.
That failed in my case, Zapp said.
On one hand, knowledge is power.
But on the other hand, is it really, if you dont have help to translate that information?
And a positive result doesnt always mean a patient needs to take drastic preventive action.
Do You Need Genetic Testing for Breast Cancer?
For people who have been diagnosed with breast cancer, genetic testing can clarify which treatments to pursue.
A risk of recurrence could compel someone to pursue surgery, for instance.
But at-home test results need to be verified with a lab test.
A genetic counselor can help you decide whether testing is necessary and make sense of the results.
Will Genetic Testing Become a Routine Part of Cancer Screening?
Clinical lab tests are now less costly.
And companies like 23andMe allow people to get a genetic test without stepping foot in a hospital.
With that knowledge, you’re able to make management decisions to reduce the risk.
However, unlike the larger laboratory panel tests, it doesnt capture any of the VUS.
You canfind a genetic counselor here.
National Cancer Institute.BRCA Variants Analysis Unit.
2020;11(11):1251. doi:10.3390/genes11111251
Centers for Disease Control and Prevention.Hereditary breast cancer and BRCA genes.
