Understanding Direct-to-Consumer Genetic Testing: Insights and Considerations

Hello everyone,

At MKGenetix, we aim to empower individuals and families with the knowledge they need to make informed decisions about their health and wellness. One increasingly popular option for exploring genetic information is direct-to-consumer (DTC) genetic testing, such as 23andMe. These tests offer the convenience of learning about your genetic makeup from the comfort of your home. However, there are important considerations to keep in mind. In this blog post, we’ll explore what DTC genetic testing is, its benefits and limitations, and how MKGenetix can support you in interpreting and understanding your results.

What is Direct-to-Consumer Genetic Testing?

Direct-to-consumer genetic testing allows individuals to obtain genetic information without the need for a healthcare provider. Companies like 23andMe, AncestryDNA, and others offer tests that analyze your DNA to provide insights into your ancestry, health risks, traits, and more. The process typically involves:

1. Ordering a test kit online.
2. Providing a saliva sample and mailing it back to the company.
3. Receiving your results through an online portal.

Benefits of Direct-to-Consumer Genetic Testing

1. Accessibility and Convenience

DTC genetic tests are easy to access and can be completed at home, making genetic information available to a broader audience.

2. Ancestry Insights

These tests can provide detailed information about your ancestral origins and familial connections, helping you learn more about your heritage.

3. Health and Traits Information

Many DTC tests offer insights into genetic predispositions for certain health conditions, physical traits, and wellness factors, which can be interesting and informative.

Limitations and Considerations

1. Clinical Validity

The clinical validity of some health-related results from DTC tests may be limited. These tests might not provide a comprehensive view of your health risks and are not a substitute for clinical genetic testing. For example, in most cases the DTC company may only be looking at a handful of specific change genetics in a particular gene such as BRCA1 or BRCA2 (genes related to causing an increased risk for breast and ovarian cancer when not functioning properly) when there are actually hundreds or thousands of changes in the gene that could lead to increased risks. This can be highly misleading when results show that there were not changes found. It really means, the small handful of changes that they looked at weren’t present, but not that there are no changes in those particular genes or other related genes.

2. Interpretation of Results

Understanding the implications of your genetic results can be complex. Results might indicate increased risk for certain conditions, but this does not guarantee that you will develop these conditions. Unfortunately many conditions aren’t the result of just one genetic pre-disposing factor. In addition, a study completed in 2018 by Ambry Genetics (a clinical laboratory) and published in Nature found that 40% of the genetic variants reported by DTC companies were false positives. This means that when re-analyzed with higher quality measures, the genetic changes weren’t even present.

3. Privacy Concerns

Sharing your genetic information with DTC companies raises privacy and data security concerns. It’s important to understand how your data will be used and stored. Most of the higher quality DTC companies have privacy policies that prevent them for sharing your identifying data with 3rd parties. However, there are some services where clients themselves can upload their data to large public databased which do not have such protections. One of the biggest challenges here is that when one individual uploads their data to one of these public databases, they may actually be exposing the date of their relatives as well. Remember the Golden State Killer that was caught in 2018? This is how they where able to identify him, through a family member uploading information to a publicly available database.

4. Psychological Impact

Receiving unexpected or distressing health information can have psychological impacts. It’s crucial to be prepared for all possible outcomes and seek support if needed. DTC testing isn’t all bad and it does, in some cases allow you to find out that you’re at risk for certain health issues or even find that long lost family you’ve been looking for! However, you are doing a lot of it potentially alone and without much guidance.

5. GINA and Its Relevance to Direct-to-Consumer Testing

The Genetic Information Nondiscrimination Act (GINA), enacted in 2008, was a groundbreaking piece of legislation designed to protect individuals from discrimination based on their genetic information. Specifically, GINA prohibits employers from using genetic information to make hiring, firing, or promotion decisions, and it prevents health insurance companies from using genetic data to deny coverage or adjust premiums. This law is particularly relevant in the context of Direct-to-Consumer (DTC) genetic testing, where individuals can access genetic tests without going through a healthcare provider. While GINA offers some protections against genetic discrimination in employment and insurance, it does not extend to life insurance, disability insurance, or long-term care insurance, which can still use genetic information as a factor in decision-making. As more people use DTC tests for insights into their ancestry, health risks, or traits, GINA helps ensure that their genetic data cannot be used to discriminate against them in the workplace or with health insurance. However, it’s important for consumers to be aware of the gaps in protection, especially regarding other types of insurance, and to carefully consider the privacy policies of DTC testing companies before sharing their genetic data.

How MKGenetix Can Help

While DTC genetic testing offers interesting insights, it’s important to interpret the results accurately and understand their implications. Here’s how MKGenetix can support you:

Our certified genetic counselor can help you understand your DTC test results, providing clarity on what they mean for your health and family. We can help confirm variants that are identified through clinical genetic testing (when available) to know if the risks are real or false. We can also assist with coordinating the testing necessary for family members if necessary. Or…we can provide some reassurance, when appropriate, that there are not increased risks as originally thought. We can assess your personal and family history in conjunction with your DTC results to provide a more comprehensive risk assessment for certain conditions.

Our counselors can discuss the privacy implications of sharing your genetic information with DTC companies and help you make informed decisions about your data. We offer ongoing support and connect you with resources and support groups, ensuring you have the information and assistance you need.

Conclusion

Direct-to-consumer genetic testing like 23andMe can offer valuable insights into your ancestry and health. However, it’s important to approach these tests with a critical eye and seek professional guidance to fully understand and utilize the information they provide. At MKGenetix, we are here to help you navigate the complexities of genetic information, offering expert support and personalized care.

If you’ve taken a DTC genetic test and have questions about your results, or if you’re considering taking one and want to understand what to expect, don’t hesitate to reach out to us. We’re here to support you every step of the way.

Warm regards,

Megan Trinkle-Knotts, MS, CGC
Certified Genetic Counselor
Founder, MKGenetix

References

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3. Kalf, R. R., Mihaescu, R., & Janssens, A. C. (2014). Factors involved in the decision to participate in direct-to-consumer genetic testing: A focus group study. Public Health Genomics, 17(3), 154-163.
4. McGowan, M. L., Fishman, J. R., & Lambrix, M. A. (2010). Personal genomics and individual identities: Motivations and moral imperatives of early users. New Genetics and Society, 29(3), 261-290.
5. Hock, K. T., Christensen, K. D., Yashar, B. M., Roberts, J. S., Gollust, S. E., & Uhlmann, W. R. (2011). Direct-to-consumer genetic testing: An assessment of genetic counselors’ knowledge and beliefs. Genetics in Medicine, 13(4), 325-332.