Genetic testing has come a long way in recent years, providing individuals with valuable insights into their health risks and ancestry. Companies like 23andMe have played a significant role in making the public more aware of genetic testing. However, the recent decision by 23andMe to add 41 variants to their BRCA test is going to further misinform people about their risk of cancer. In this blog, we will explore these challenges and their implications.

Understanding BRCA Genes
BRCA1 and BRCA2 are genes that produce tumor suppressor proteins, which help repair damaged DNA and prevent the growth of cancerous cells. Mutations in these genes can significantly increase the risk of breast and ovarian cancer in women, prostate and breast cancer in men, and pancreatic and other cancers in both sexes. Early detection of these mutations is crucial for individuals with a family history of these diseases.

Misunderstanding of Testing
One of the primary challenges associated with adding 41 variants to the BRCA test is consumers’ understanding of what they are being tested for on the 23andme test. In 2018, 23andme received FDA clearance to report 3 specific mutations in the BRCA1 and BRCA2 genes which are commonly found in people of Ashkenazi Jewish and rarely found in other populations. Despite 23andme providing education about this in the testing process, many people who underwent this testing did not appreciate this fact and thought that they had tested negative for a BRCA1/2 mutation, leading to a misunderstanding of the testing done and their potential cancer risk. Essentially, if you were not of Ashkenazi Jewish descent and you had the 23andme BRCA1/2 test performed, you were not accurately tested for a BRCA1/2 mutation. Adding 41 more variants is still not providing individuals with complete BRCA1/2 testing because there are THOUSANDS of mutations that can occur in these genes. Testing for 44 only total variants can potentially lead to false negative results.

False Positives and False Negatives
Another challenge is the risk of false positives and false negatives. False positives occur when a genetic test suggests the presence of a mutation that is not actually there, leading to unnecessary worry and potentially invasive follow-up procedures. False negatives, on the other hand, occur when a test fails to detect a mutation that is actually present, providing a false sense of security. The addition of 41 variants to the BRCA test increases the complexity of the test but it is still missing so many possible mutations that can occur leading to false negative results. In addition, the FDA recommends that anyone who receives a positive BRCA1/2 test result from 23andme have the test repeated at another laboratory to ensure the results are not falsely positive before taking any cancer screening or risk reduction steps as this is not an uncommon occurrence. It’s essential for consumers to understand the limitations of genetic testing and the possibility of false results.

Ethical Concerns
Genetic testing raises important ethical concerns, particularly regarding privacy and the potential for discrimination. When individuals share their genetic information with companies like 23andMe, there is a risk that this data could be used for purposes beyond the intended scope of the test. The question of who has access to genetic information and how it is stored and protected is a significant concern. Ensuring the privacy and security of genetic data is essential to maintaining public trust in genetic testing services. It is critical that before doing this testing, read the privacy policy…yes, I know it is long and boring, but you should know what a company is going to do with your genetic information before you send them your DNA!

Impact on Healthcare System
The widespread availability of genetic testing has the potential to impact the healthcare system in several ways. As more individuals seek genetic testing through companies like 23andMe, there is a risk of overwhelming the healthcare system with requests for follow-up consultations and medical interventions. Furthermore, the interpretation of genetic test results can be complex, and not all healthcare providers may be adequately trained to understand and communicate these results effectively. This can lead to disparities in access to appropriate medical care and genetic counseling. Please consider meeting with a genetic counselor to review test results before taking action.

The Role of Genetic Counseling
Genetic counseling is a vital component of the genetic testing process. Genetic counselors are trained professionals who can help individuals understand their test results, assess their risk, and make informed decisions about their healthcare. Learn more about genetic counseling services here.

Consumer Empowerment and Informed Decision-Making
While there are challenges associated with the expansion of genetic testing, it also offers the potential for greater consumer empowerment and informed decision-making. By providing individuals with more comprehensive genetic information, they can take proactive steps to manage their health risks. For example, those at a higher risk for breast cancer may choose to undergo more frequent screenings or consider preventive measures such as prophylactic surgery.

Wrapping Up
The addition of 41 variants to 23andMe’s BRCA test presents both opportunities and challenges. It offers individuals a more comprehensive view of their genetic risk for breast and ovarian cancer, potentially empowering them to make informed decisions about their health. However, it also raises questions about incomplete genetic testing, the potential for false results, ethical concerns, and the impact on the healthcare system.

To navigate these challenges successfully, it is essential for individuals to approach genetic testing with caution and seek genetic counseling. Additionally, policymakers and regulatory bodies must continue to address the ethical and privacy implications of widespread genetic testing. Ultimately, the goal should be to strike a balance between providing valuable genetic information to individuals and ensuring that this information is used responsibly and ethically in the best interest of public health.

The team at Chicago Genetic Consultants welcomes any questions about genetic testing, so please contact us with any questions!