Life-Altering Information, or Just For Fun?

Posted by Nancy Ledbetter, Research Analyst on August 22, 2017

Clinical lab_1200.jpgHelix, a company formed by Illumina in 2015, has drawn a new section on the blurry line between healthcare and entertainment using direct-to-consumer (DTC) genetic tests. For the surprisingly low price of $80, Helix will sequence a person’s exome, using the same Illumina machines most researchers use. After a one-time saliva submission, Helix clients can choose from a menu of existing analyses from outside vendors that vary from < $100 to about $250. Currently, the Helix website lists 19 different options for clients to learn about their DNA. They include one that uses DNA information to inform which wines are likely to be appealing and another for learning carrier status for a host of mutations that are associated with disease (e.g., cystic fibrosis) for future children if both parents are carriers. As Helix adds more vendors, clients will have the opportunity to order additional analyses to learn more information around their genetic make-up.

Other companies that provide DTC tests include 23andMe, AncestryDNA, and Color Genomics. 23andMe is similar to Helix in that it offers a mix of health-related and non-health–related tests, but Helix offers a larger number and variety. Other companies’ products are aimed at specific goals. AncestryDNA helps people learn where their ancestors originated for $79, while Helix clients can access a similar product from National Geographic for $69.95. Color Genomics has two tests: one that targets cancer risk, evaluating about 30 genes for $249. For another $100, Color will add 3 more genes to check for inherited high cholesterol. In contrast, Helix’s sequencing technology has the potential to evaluate 22,000 genes.

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“However, DTC could cause harm by provoking anxiety about disease risk for which effective interventions for prevention are lacking, such as Alzheimer’s. Or, they may cause false reassurance.”

The difference between what Helix’s “CarrierCheck” test provides (solid information that each pregnancy will have a 25% risk of having a particular disease if both partners are carriers) and the potential for its “SlumberType” test to result in a better night’s sleep and, therefore, better health, are worlds apart. Whether consumers can reasonably be expected to understand the difference between an established medical test, and tests offered as entertainment, is unknown. 

The promise of DTC testing is that it may provide important information to which people would not otherwise have easy access. Many genetic diseases are believed to be under diagnosed. However, DTC could cause harm by provoking anxiety about disease risk for which effective interventions for prevention are lacking, such as Alzheimer’s. Or, they may cause false reassurance. The vast majority of cancer and other frightful diseases cannot be predicted with a genetic test.

“If healthcare resources are spent reacting to unfounded DTC genetic test results in primary care settings, opportunities that are known to positively impact health may be lost.”

The evidence that available genetic tests can enhance fitness, reduce obesity, or help manage hormones, all included in Helix’s current offerings, needs to be assessed. If healthcare resources are spent reacting to unfounded DTC genetic test results in primary care settings, opportunities that are known to positively impact health may be lost. DTC testing may lead consumers to believe that additional interventions, such as laboratory tests, scans, and specialist referrals, are necessary; driving more expense in the absence of scientific evidence.  

Hayes can help. 

Download our FREE ebook, 5 Questions to Ask Before Entering the Maze of Genetic Testing. When you’re ready to see what the Hayes Genetic Test Evaluation (GTE) program can do for you, schedule a demo.

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Topics: Hayes Blog, Healthcare Evidence, Genetic Testing, Consumers