Originally Posted On: https://www.jscreen.org/blog/at-home-brca-tests-what-you-should-know
At-Home BRCA Tests: What You Should Know
Are you considering an at-home BRCA test? With the rise of direct-to-consumer genetic testing, more people are exploring their genetic health risks from the comfort of their homes. While these tests offer convenience, it’s essential to understand what they can—and cannot—tell you about your cancer risk.
Understanding BRCA Genes and Their Role in Cancer Risk
BRCA1 and BRCA2 (BReast CAncer genes) are tumor suppressor genes that help repair damaged DNA and prevent cells from growing abnormally. When these genes function correctly, they play a crucial role in preventing cancer. However, specific mutations in these genes can significantly increase the risk of developing breast, ovarian, prostate, and pancreatic cancers.
For women with BRCA1 and BRCA2 mutations, the lifetime risk of developing breast cancer can be upwards of 70%, compared to about 13% in the general population. The risk of ovarian cancer increases from approximately 1.2% to 39-44% with a BRCA1 mutation and up to 29% with a BRCA2 mutation.
Men aren’t exempt from these risks either. Those with BRCA mutations face an increased risk of male breast cancer, prostate cancer, and pancreatic cancer.
Not All BRCA Tests Are Created Equal
Here’s where the distinction becomes critical: more than 1,000 known BRCA mutations can increase cancer risk, but many at-home tests only screen for a limited number of these variants.
CLIA Approval: The Gold Standard
One key difference between genetic tests is whether they are approved by CLIA (Clinical Laboratory Improvement Amendments). CLIA approval ensures that the laboratory meets federal quality standards for accuracy, reliability, and timeliness.
When choosing a genetic test, always look for CLIA certification. This approval means the test has been validated and meets rigorous quality standards that many direct-to-consumer tests don’t match.
SNPs vs. Comprehensive Gene Testing
Many popular home DNA testing companies use genotyping or SNP (Single Nucleotide Polymorphism) testing. This is like reading only a few selected words on a page rather than the entire text.
For example, the FDA-approved direct-to-consumer BRCA test looks for only 3 out of 1,000 known BRCA mutations. While these three variants are common in people of Ashkenazi Jewish ancestry (about 1 in 40 individuals), they’re rare in other populations.
In contrast, comprehensive gene sequencing reads through entire genes—like reading every word on the page. This approach can identify all possible mutations, providing a more complete picture of your genetic risk.
The jscreen Difference
jscreen offers medical-grade, comprehensive genetic testing that examines entire genes rather than just a few common mutations. Our testing looks for all known BRCA mutations, not just the three most common variants.
Unlike most direct-to-consumer tests, jscreen includes genetic counseling with every test. Our certified genetic counselors help you understand your results and what they mean for you and your family.
For those of Ashkenazi Jewish ancestry, comprehensive testing is critical. While about 75% of individuals with Jewish ancestry are carriers of at least one genetic disease, and Ashkenazi Jews are 10 times more likely to carry BRCA mutations than the general population, the specific mutation can vary widely.
Why Genetic Counseling Matters
One of the most significant limitations of some direct-to-consumer genetic tests is the lack of professional guidance. Interpreting genetic test results is complex and can have profound implications for your health and family.
With jscreen, genetic counseling is built into the process.
Our counselors help you:
- Understand what your results mean for your health
- Develop an appropriate screening or prevention plan
- Determine if family members should consider testing
- Navigate the emotional aspects of learning about genetic risk
Making an Informed Decision
If you’re considering genetic testing for cancer risk, here are some essential questions to ask:
- Does the test look for all possible BRCA mutations or just a few common ones?
- Is the testing done in a CLIA-certified laboratory?
- Does the service include access to genetic counseling?
- What will happen with your genetic data after testing?
- Will the company help you understand what actions to take based on your results?
Peace of Mind Through Knowledge
At jscreen, we believe in empowering people with actionable genetic information. Our comprehensive testing provides clear insights into your reproductive options and hereditary cancer risks, allowing you to make informed decisions about your health.
Rather than using fear-based messaging, we focus on empowerment. Knowledge is power, especially when it comes to understanding your genetic health risks and taking proactive steps to protect yourself and your loved ones.
Take the Next Step
If you are interested in comprehensive genetic testing beyond what direct-to-consumer tests offer. In that case, jscreen provides accessible, affordable screening options with professional genetic counseling included.
Don’t settle for partial information about your genetic health that can lead you to a false sense of security. Choose comprehensive testing that gives you the complete picture.