New Research Demonstrates: 23andMe Members are Taking Action on Their Health

By Stacey Detweiler, MS, CGC

Key Takeaways Proactive Risk Detection: 82% of participants were unaware of their genetic risks prior to testing, showing that direct-to-consumer genetic testing identifies high-impact health risks often missed by traditional clinical screening. High Medical Follow-Through: When members shared results with healthcare professionals, it led to 86% of them receiving at least one medical recommendation, ranging from screenings all the way up to preventive surgeries, with an impressive 88% patient adherence rate. Bridging the Gap: There is a significant opportunity to better educate healthcare professionals, particularly primary care providers, and encourage the 54% of members who haven’t yet shared their results to do so.

Every day, people turn to 23andMe to better understand how their genetics can impact their health. While our DNA kits offer a wealth of information, for many, the most critical discovery is a high-impact health result that can be addressed through personalized medical action.

To understand how these insights translate into real-world care, researchers at 23andMe recently studied over 1,000 consenting participants who received results for medically actionable conditions, such as hereditary cancers and cardiovascular diseases. We wanted to know: are people turning this data into action? The short answer is yes.

Our results, recently published in Genetics in Medicine Open, demonstrate that these high-impact findings are serving as a catalyst for proactive health management. Here are the key takeaways from the study.

People are finding unknown health risks

This study found that most individuals who had a medically actionable genetic variant identified through 23andMe were unaware of their genetic risk beforehand. In fact, 82% of them had no prior clinical genetic testing for that variant, even though most (68%) reported a personal or family history of a related health condition.

These findings are a reminder that most genetic testing is only ordered to help diagnose those who are already sick or those with a strong family history of a condition. And even then, people who do qualify for genetic testing are often missed by the healthcare system^[1][2]. The findings of this study are important because it shows that direct-to-consumer genetic testing can identify people who might otherwise go undetected through traditional healthcare channels.

Genetic results drive real medical action

The most exciting finding? Genetic results don’t just provide new insights, they spur real-world change. When people took their genetic results to a healthcare professional, it often led to important, personalized health actions. Almost 1,500 medical recommendations, including follow-up blood testing, cancer screenings, starting medications and preventive surgery, were made by healthcare professionals based on individuals’ genetic results.

And once those recommendations were given, people followed them! The overall adherence to medical recommendations was high at 88%. Whether it was a recommendation for earlier screenings, medication, or even prophylactic surgery, people followed their doctor’s medical advice and took action based on their genetic results.

There are opportunities for an even greater benefit

While the findings are overwhelmingly positive, the study also identified a few specific ways we can help more people turn high-impact results into meaningful health actions.

• Sharing results with doctors: Less than half of the research participants (46%) in this study reported sharing their results with a healthcare professional. The good news is that for those who did share, 86% received at least one medical recommendation. This means there is a big opportunity to encourage more people to share genetic results with their doctors and for us to make it easier to do so.
• Educating healthcare professionals on genetic testing: We found a gap in how participants felt about their interactions with different types of healthcare professionals. Those who shared results with a specialist were more likely to say that specialists (such as oncologists or cardiologists) were knowledgeable about their results compared to those who shared results with their primary care provider. This highlights a need for more education about genetic testing, especially for frontline primary care providers. Good news, this is exactly what we plan to do. Building on years of engagement with healthcare professionals, the 23andMe Research Institute plans to continue to develop and expand our education and clinical support resources to empower healthcare professionals to turn genetic data into better patient care.
• Addressing health inequity: This study also uncovered a potential disparity. Individuals with variants in the TTR gene, which were more common in non-White individuals, had the lowest rates of prior genetic testing and were less likely to receive medical recommendations after sharing their results with a healthcare professional. This is a critical insight that informs how direct-to-consumer genetic testing could help uncover and address health inequities, especially for conditions that are more common in historically underserved communities.

The takeaway

This study provides powerful evidence that direct-to-consumer genetic testing can make meaningful differences in the healthcare actions taken by individuals and their doctors. High-impact genetic results that are easily accessible and understandable can empower individuals with critical health insights, which, when shared with a healthcare professional, can personalize their care and lead to life-changing preventive actions!

References:

[1] Childers CP et al. (2017). “National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer.” J Clin Oncol. https://pubmed.ncbi.nlm.nih.gov/28820644/ 

[2] Manickam K et al. (2018). “Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.” JAMA Netw Open. https://pubmed.ncbi.nlm.nih.gov/30646163/