JAN 10, 2017 1:03 PM PST

How Consumers React to Their Genetic Testing Results

WRITTEN BY: Xuan Pham

As the cost of genetic testing continues to decrease, more and more patients are exploring the what their DNA holds for their future. But even though the direct-to-consumer (DTC) genetic testing market has been thriving for the past several years, do we know if these tests benefit patients? More broadly, how does seeking out and learning about one’s DNA story affect a person’s lifestyle decisions? These questions have been at the heart of the controversy surrounding DTC genetic testing. Now a study examining this exact topic finally adds some insight into how genetic testing has affected the curious consumers.

Direct-to-consumer genetic testing is defined as those tests that any individual consumers can order for themselves. For example, a person curious about their DNA ancestry may contact leading genetic companies such as 23andMe or Color Genomics directly. The companies sequence the person’s DNA using a swab sample, and the results are reported to the consumers. Throughout the process, healthcare professionals or insurance companies are typically not required.

Although the prospects of allowing individuals to take charge of their genetic information are appealing, many have raised concerns over how everyday people are supposed to interpret their genetic results without any professional guidance. In particular, genetic information involving disease status can be ambiguous and confusing even to trained genetic counselors, let alone an unassuming individual. As such, DTC genetic testing poses risks for the consumers who may be misled by the results and take health actions that may not be suitable.

To get at the heart of how DTC genetic testing affects the consumers, researchers at the Brigham and Women's Hospital sampled over 1,000 customers who  engaged in genetic testing on their own. Of these, the team focused on the 762 participants who had cancer-related results. They found that 12 to 24 percent of consumers came away with “elevated cancer risks” for prostate, colon, and breast cancer. No one tested positive for a true pathogenic mutation.

But despite learning of their elevated risks, most consumers did not engage in any changes to their lifestyle. For example, these people didn’t alter their diet, change their exercise regime, or made plans for more aggressive cancer screenings.

"These results suggest that people are not over-reacting to very modest cancer risks in DTC genetic testing. This is consistent with some of our other findings showing that early adopters of DTC genetic testing understand the limited predictive impact of DTC results and do not over-react either emotionally or in terms of generating additional and unnecessary medical expenses," said Robert Green, director of the Genomes2People Research Program, and the study’s senior author.

"There has been a tremendous amount of interest and opinion expressed about the potential benefits, harms and costs associated with personal genomic testing, and most of it has been speculative. The PGen Study provided us with a goldmine of data on consumer expectations, how consumers interpret, recall and experience their results, how their results impact their state of mind, what actions they take after testing, and how all of these factors change over time," said Green.

The results are comforting and slightly disturbing at the same time. In particular, it’s reassuring that consumers aren’t taking drastic health decisions based on the results of their test. However, it seems logical to expect that people with elevated cancer risks at least consult with healthcare professionals about their risks, rather than do nothing.

Additional source: Science Daily 

About the Author
  • I am a human geneticist, passionate about telling stories to make science more engaging and approachable. Find more of my writing at the Hopkins BioMedical Odyssey blog and at TheGeneTwist.com.
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