New Study on People’s Response to Information from Direct-to-Consumer Genetic Testing

New research published this month adds to a growing list of empirical evidence that people find value in health information gleaned from direct-to-consumer genetic testing.

The 23andMe study, published in the journal Molecular Genetics & Genomic Medicine, found that direct-to-consumer testing can lead people to engage in critical conversations with their healthcare providers. In some cases, the results from their reports lead people to make behavioral changes to help lower their disease risk.

“Most study participants reported that knowing their genetic risk was an advantage,” said co-lead author Sarah L. Elson, Ph.D., and a 23andMe senior research program manager and senior scientist. “Many of those who learned about their risk did what you would hope. They either talked to their doctor or made lifestyle changes to help lower their risk.” Blood cells clotting

The Impact of Direct-to-Consumer Genetic Testing

There have been anecdotal stories from customers about how their results positively impacted their lives, but the study adds data from a large cohort of customers, Elson said.

The study looked at how more than 2,000 people reacted to 23andMe's Hereditary Thrombophilia Genetic Health Risk report.* (At the time the name of the report was Inherited Thrombophilia (Factor V Leiden-and Prothrombin-Related.) The participants responded to questions in two different online surveys consisting of just over 100 questions.

They were asked about their perceptions of venous thromboembolism (VTE) risk, whether they discussed their results with healthcare providers, what if any recommendations they received, what actions they took to manage risk, their emotional responses to receiving risk results, and their perceived value of the information. The report looks at the two most common genetic risk factors for hereditary thrombophilia, more generally known as venous thromboembolism (VTE). VTEs are characterized by either deep vein thrombosis, clots that typically form in the legs, or pulmonary embolisms when clots travel into the lungs. Both are very serious and can lead to long term problems, and in some cases, even death.

The Prevalence of  VTEs

In the United States alone, there are between 300,000–600,000 cases of VTEs each year. About a quarter of those with VTEs have one of the two variants tested by 23andMe. These two variants are the Factor V Leiden variant in the F5 gene and the Prothrombin G20210A variant in the F2 gene. This study looked at how people reacted to learning whether they had one of those variants, as reported by 23andMe.

A little more than half of those in this study had one of these 2 variants associated with a higher risk for VTE. Ninety percent of those with a high-risk variant had never been clinically tested for Factor V Leiden or the F2 gene variant. After testing, a majority of consumers in the study — 78 percent of those with one of the risk variants and 58 percent without one of the variants — said that it was advantageous to have the test's information. Just under half used that information as the impetus for a discussion with their healthcare provider. 

A majority of participants in the study who learned they had a higher than average genetic risk, found personal utility in receiving that information. The study also found that about 30 percent of the research participants made positive behavioral changes to control their risk, such as exercising more, after learning about their risk. 

A Growing Body of Research

The research is the latest in what has been a series of peer-reviewed studies over the last decade, explicitly looking at the impact of direct-to-consumer genetic testing. The best known of these is the Impact of Personal Genomics Study, known as the PGen study. The study was led by scientists at the Broad Institute and Harvard Medical School. That study and others have tackled several central questions around direct-to-consumer testing. Among those questions are: Can people understand this information? How do they use their test results? Do they use this information to manage their health? Does testing impact their level of knowledge or anxiety regarding genetic health risks? 

Previous 23andMe research has also tackled some of these questions. One study looked at how consumers responded to reports that showed an increased genetic risk for breast cancer. That study found that people followed the recommendations in 23andMe's BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report,* and talked to their doctors. They also got confirmatory tests from their healthcare providers. And they talked to family members about their potential risk, thereby creating a cascade-like benefit. 

In this latest study, looking at how consumers respond to information in their Hereditary Thrombophilia Genetic Health Risk report, 23andMe’s report also helps people who are asymptomatic and, absent of family history, might not have known of their risk for a VTE without 23andMe's test. While the report does not cover all the genetic variants associated with VTEs, it does include the two most common and best-understood variants.

As the researchers state in the new study: "Taken together, these results suggest that consumers may experience personal utility from receiving DTC genetic results for VTE risk that is distinct from the potential benefit in receiving clinically actionable information."


*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment.  Warnings & Limitations: The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. The report describes if a woman is at increased risk of developing breast and ovarian cancer and if a man is at increased risk of developing breast cancer or may be at increased risk of developing prostate cancer. The three variants included in this report are most common in people of Ashkenazi Jewish descent and do not represent the majority of BRCA1/BRCA2 variants in the general population. This report does not include variants in other genes linked to hereditary cancers and the absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up.  Results should be confirmed in a clinical setting before taking any medical action. For important information and limitations regarding other genetic health risk reports and carrier status reports, click here