Warning: DNA test results may not be as reliable as they appear

“Understanding of the genetic contribution to human disease is far from complete.”

This statement, by DNA decoder J. Craig Venter and three colleagues, is undeniably true. But it probably would come as a surprise to much of the general public.

A host of genetic testing companies have cropped up in recent years that offer to scan your DNA and calculate your risk of developing a host of diseases. It’s no wonder that customers are under the impression that their medical destiny can be read in their genes.

Venter — a key figure in the massive effort to sequence the human genome — and his colleagues have burst this bubble with a clever experiment, reported online Wednesday in the journal Nature.

ADVERTISEMENT
0 seconds of 0 secondsVolume 0%
Press shift question mark to access a list of keyboard shortcuts
00:00
00:00
00:00
 

They took DNA samples from five people and sent them to two prominent genetic testing companies in Northern California’s Silicon Valley, Navigenics Inc. of Foster City and 23andMe Inc. of Mountain View. Both companies sell testing kits online ($399 for 23andMe, $999 for Navigenics). Customers return their vials of saliva, and within a few weeks their test results are available over the Web.

If this were a perfect science, those five people would receive identical test results from both companies. And indeed, the predictions for breast cancer, celiac disease, multiple sclerosis and rheumatoid arthritis were in agreement in all five cases.

But for nine other diseases, at least one of the test subjects got conflicting results. In fact, with seven conditions — Crohn’s disease, heart attack, lupus, prostate cancer, restless leg syndrome and type 2 diabetes — at least half of the subjects got different answers from the two companies.

It wasn’t because the companies did a sloppy job of reading the DNA. Consumer testing companies typically scan 500,000 to 1 million genetic variants, and in this experiment more than 99.7 percent of those variants were read the same way by Navigenics and 23andMe.

Discrepancies arise in the way that different companies interpret those results. Researchers conduct genome-wide association studies to compare DNA samples from patients with particular diseases to DNA samples from healthy controls. Using powerful computers, they can pick out certain variants that are more likely to occur in people with a disease, as well as calculate the extra risk (or extra protection) that comes with each of the variants.

Both Navigenics and 23andMe rely on the same studies to assess their customers’ genetic risk. But they also use their own criteria for deciding how much weight those studies deserve.

They also emphasize different components of risk, Venter and his colleagues wrote. For instance, in calculating the chance that a particular customer will get a certain disease, 23andMe takes age into consideration, since the risk of many diseases goes up as you get older. On the other hand, Navigenics factors in the customer’s gender, since some conditions are more likely to affect men and others tend to strike women.

For some diseases, the genetics are clear. A single DNA marker has been shown to increase the risk of celiac disease by a factor of 7. Both companies recognize this, and so their results for this digestive disorder are in strong agreement. Navigenics also includes seven additional markers that play a modest role, but their combined effect isn’t big enough to trump the effect of the one big marker.

The situation is completely different for the skin condition psoriasis. One of the subjects was told by 23andMe that his or her chances of getting the disease were four times greater than for the general public. Navigenics agreed that the subject had an increased risk, but said it was only 25 percent higher.

The main reason for the discrepancy was 23andMe’s decision to rely on a DNA variant that nearly triples the risk of psoriasis, according to one study. But that study didn’t meet the scientific standards of Navigenics, so that particular variant isn’t part of the company’s risk model, Venter and colleagues said.

Even if all the results were in agreement, it wouldn’t necessarily make the tests more reliable, the researchers said.

In the case of celiac disease, the DNA variants that have been identified so far are estimated to account for only 35 percent to 40 percent of the disorder’s genetic basis. And that’s not even counting whatever environmental influences play a role. A genetic scan today could give a customer a false sense of security if he or she happens to carry some disease variants that have not yet been discovered. There could also be customers whose risks are overstated because they have an unidentified DNA variant that greatly reduces their risk.

For these reasons and more, Venter and his colleagues can’t conclude which company’s test is more accurate. Instead, they emphasize that none of the consumer-oriented testing companies is as reliable as they appear.

Talk to us

> Give us your news tips.

> Send us a letter to the editor.

> More Herald contact information.

More in Local News

Vehicles travel along Mukilteo Speedway on Sunday, April 21, 2024, in Mukilteo, Washington. (Ryan Berry / The Herald)
Mukilteo cameras go live to curb speeding on Speedway

Starting Friday, an automated traffic camera system will cover four blocks of Mukilteo Speedway. A 30-day warning period is in place.

Carli Brockman lets her daughter Carli, 2, help push her ballot into the ballot drop box on the Snohomish County Campus on Tuesday, Nov. 5, 2024 in Everett, Washington. (Olivia Vanni / The Herald)
Here’s who filed for the primary election in Snohomish County

Positions with three or more candidates will go to voters Aug. 5 to determine final contenders for the Nov. 4 general election.

Students from Explorer Middle School gather Wednesday around a makeshift memorial for Emiliano “Emi” Munoz, who died Monday, May 5, after an electric bicycle accident in south Everett. (Aspen Anderson / The Herald)
Community and classmates mourn death of 13-year-old in bicycle accident

Emiliano “Emi” Munoz died from his injuries three days after colliding with a braided cable.

Danny Burgess, left, and Sandy Weakland, right, carefully pull out benthic organisms from sediment samples on Thursday, May 1, 2025 in Everett, Washington. (Olivia Vanni / The Herald)
‘Got Mud?’ Researchers monitor the health of the Puget Sound

For the next few weeks, the state’s marine monitoring team will collect sediment and organism samples across Puget Sound

Everett postal workers gather for a portrait to advertise the Stamp Out Hunger Food Drive on Wednesday, May 7, 2025 in Everett, Washington. (Olivia Vanni / The Herald)
Snohomish County letter carriers prepare for food drive this Saturday

The largest single-day food drive in the country comes at an uncertain time for federal food bank funding.

Everett
Everett considers ordinance to require more apprentice labor

It would require apprentices to work 15% of the total labor hours for construction or renovation on most city projects over $1 million.

A person walks past Laura Haddad’s “Cloud” sculpture before boarding a Link car on Monday, Oct. 14, 2024 in SeaTac, Washington. (Olivia Vanni / The Herald)
Sound Transit seeks input on Everett bike, pedestrian improvements

The transit agency is looking for feedback about infrastructure improvements around new light rail stations.

A standard jet fuel, left, burns with extensive smoke output while a 50 percent SAF drop-in jet fuel, right, puts off less smoke during a demonstration of the difference in fuel emissions on Tuesday, March 28, 2023 in Everett, Washington. (Olivia Vanni / The Herald)
Sustainable aviation fuel center gets funding boost

A planned research and development center focused on sustainable aviation… Continue reading

Dani Mundell, the athletic director at Everett Public Schools, at Everett Memorial Stadium on Wednesday, May 14, 2025 in Everett, Washington. (Will Geschke / The Herald)
Everett Public Schools to launch girls flag football as varsity sport

The first season will take place in the 2025-26 school year during the winter.

Clothing Optional performs at the Fisherman's Village Music Festival on Thursday, May 15 in Everett, Washington. (Will Geschke / The Herald)
Everett gets its fill of music at Fisherman’s Village

The annual downtown music festival began Thursday and will continue until the early hours of Sunday.

Seen here are the blue pens Gov. Bob Ferguson uses to sign bills. Companies and other interest groups are hoping he’ll opt for red veto ink on a range of tax bills. (Photo by Jacquelyn Jimenez Romero/Washington State Standard)
Tesla, Netflix, Philip Morris among those pushing WA governor for tax vetoes

Gov. Bob Ferguson is getting lots of requests to reject new taxes ahead of a Tuesday deadline for him to act on bills.

Jerry Cornfield / Washington State Standard
A new law in Washington will assure students are offered special education services until they are 22. State Sen. Adrian Cortes, D-Battle Ground, a special education teacher, was the sponsor. He spoke of the need for increased funding and support for public schools at a February rally of educators, parents and students at the Washington state Capitol.
Washington will offer special education to students longer under new law

A new law triggered by a lawsuit will ensure public school students… Continue reading

Support local journalism

If you value local news, make a gift now to support the trusted journalism you get in The Daily Herald. Donations processed in this system are not tax deductible.