Direct-to-consumer genetic testing drives preventive care

23andMe Research Institute today announced the publication of a new study highlighting the positive health actions taken by people who learned of their risk through direct-to-consumer genetic testing.

Published in Genetics in Medicine Open, the study included data from more than 1,000 research-consented 23andMe participants who learned they had an increased genetic risk for serious health conditions such as hereditary cancers and cardiovascular disease. 

The researchers aimed to gain a deeper understanding of how people responded to this information, particularly after sharing their results with their primary healthcare providers.

The study found that among those who learned of a serious genetic health risk: 

• Eighty-two percent had not undergone prior genetic testing for these conditions, despite most (68%) having a relevant personal or family history. 

• Eighty-six percent of those who shared results with their doctor received medical recommendations to address the risk, which included nearly 1,500 personalized recommendations from early screening to prophylactic surgeries.

• Eight-eight percent of the medical recommendations were adhered to by participants.

This is powerful evidence that direct-to-consumer genetic testing can make a meaningful difference in how healthcare professionals treat their patients, and how important this information can be in people's lives. Genetic testing can empower individuals with critical health insights, which, when shared with a healthcare professional, can lead to meaningful, life-changing actions."

 Dr. Noura Abul-Husn, MD, PhD, Chief Medical Officer at the 23andMe Research Institute, and senior author of the study

The findings suggest that many people with a genetic health risk aren't tested for those risks in routine healthcare, even when they have a personal or family history of a condition. Direct-to-consumer genetic testing can serve as a proactive screening tool to help identify individuals at risk who might otherwise go undetected through traditional screening methods. 

Notably, the study highlighted that these genetic results spur real-world change. These results often led to healthcare professionals making personalized medical recommendations for their patients. And once doctors gave those medical recommendations, the vast majority of people followed them. Whether it was a recommendation for earlier screenings, medication, or even prophylactic surgery, people listened to their doctors and took action.

While the findings offer strong evidence of the positive impact of direct-to-consumer testing for genetic health risks, they also identify key areas for improvement. For example, less than half of those in the study shared their results with a healthcare professional, highlighting an opportunity to encourage further follow up around actionable genetic information that can be used to guide healthcare decisions. The study also highlighted a need for genetics education among healthcare professionals, especially frontline primary care providers who serve as the cornerstone of preventive health.

Overall, the study suggests that direct-to-consumer testing provides critical, actionable health information for individuals, especially when they share their findings with their healthcare providers.