An example of a DNA collection test used at Any Lab Test Now on Friday, July 20, 2018 in Everett, Wa. (Olivia Vanni / The Herald)

DNA tests make fun holiday gifts, but beware of the hype

Whether interested in your health or your ancestors, it is important to understand how these tests work

You’ve likely heard about direct-to-consumer DNA testing kits. In the past few years, at-home genetic testing has been featured in the lyrics of chart-topping songs, and has helped police solve decades-old cold cases, including identifying the Golden State Killer in California.

Even if you don’t find a DNA testing kit under your own Christmas tree, there’s a good chance someone you know will.

Whether you’re motivated to learn about your health or where your ancestors came from, it is important to understand how these tests work — before you spit in the tube.

While exciting, there are things that these genetic testing kits cannot tell users — and important personal implications that consumers should consider.

Health, traits and ancestry kits

My main area of research is around clinical genome sequencing, where we look through all of a person’s DNA to help diagnose diseases. With a PhD in genetics, I often get questions from friends and family about which direct-to-consumer genetic test they should buy, or requests to discuss results. Most questions are about two types of products: ancestry and health kits.

The most popular ancestry kit is from AncestryDNA. These kits are aimed at giving users insight into where their ancestors might be from. They can also connect users with family members who have used the service and have opted into having their information shared. Another option is Living DNA, which has a smaller dataset but provides more precise information on the U.K. and Ireland.

The most popular health kit is from 23andMe. Depending on the user’s preference, results include information on predispositions for diseases such as diabetes and Alzheimer’s, as well as on the likelihood of having certain traits such as hair colour and taste. This company also offers ancestry analysis, as well as ancestry and trait-only kits that don’t provide health information. The kit offered by the newer MyHeritage DNA also provides a combined ancestry and health option.

There are other kits out there claiming to evaluate everything from athletic potential to relationship compatibility. But gift-buyers beware: for most of these, in contrast to those above, the evidence is seriously lacking.

How these tests work

For all of these tests, customers receive a kit in the mail. The kits contain instructions for collecting a saliva sample, which you mail back to the company for analysis.

During this analysis, these popular tests do not look at the entire genome. Instead, they employ single nucleotide polymorphism (SNP) genotyping. As humans we all share 99.9 per cent of our DNA. SNPs are essentially what is left: all of the points at which we can differ from our neighbour, making us unique. SNP genotyping looks at a subset of these sites to “survey” the user’s genome.

These SNPs are then compared to reference datasets of individuals with known conditions or ancestry. Most results are based on the SNPs shared with a given group. For example, if your results say that you are 42 per cent Southeast Asian, it’s because 42 per cent of your SNPs were most likely to have come from a group in the reference dataset labelled “Southeast Asian.” The same goes for traits and health conditions.

How they differ from clinical tests

Direct-to-consumer genetic tests are not a substitute for clinical assessment. The methods used differ dramatically from what is done to diagnose genetic diseases.

In a clinical setting, when suspicion of a genetic condition is high, entire genes are often analyzed. These are genes where we understand how changes in the DNA cause cellular changes that can cause the disease. Furthermore, clinical assessment includes genetic counselling that is often key to understanding results.

In contrast, findings from direct-to-consumer genetic tests are often just statistical links; there is commonly no direct disease-causing effect from the SNPs.

Users may interpret a result as positive, when the risk increase is only minimal, or entirely false. These tests can also give false reassurance because they do not sequence genes in their entirety and can miss potentially harmful variants.

Before you spit in a tube, stop and think

These tests are exciting: they introduce new audiences to genetics and get people thinking about their health. They’re also helping to build vast genetic databases from which medical research will be conducted.

But for individual users, there are important caveats to consider. Recent reports have questioned the accuracy of these tests: identical twins can receive different results. Furthermore, a lack of diversity in the reference data has caused particular concern regarding accuracy of results for ethnic minorities.

There are also concerns about the way these tests emphasize racial categories that science considers to be social constructs and biologically meaningless.

Professor Tim Caulfield shares concerns about the way race is presented in the marketing of DNA tests.

A recent paper in the British Medical Journal suggests four helpful questions for users to consider. First, users should ask themselves why they want the test. If it is to answer a medical question, then they should speak with their doctor. Users should also think about how they might feel when they receive results containing information they would rather not know.

Users should also consider issues around security and privacy. It is important to read the fine print of the service you’re using, and determine whether you’re comfortable sharing personal information, now and in the future.

In Canada, policies around genetics have not always kept up with the science. At present, direct-to-consumer genetic testing is unregulated. And, although Canadians have legislative protections against genetic discrimination, those laws are being challenged in the courts, and could change.

Finally, it may also be worth discussing DNA testing with relatives. We share half of our genome with our immediate family members, and smaller fractions with more distant relatives. Genetic results not only affect us, but our family.

Bottom line: It’s all for fun

Some users may feel they learn more about themselves. For others, results may bring people closer together — not a bad outcome for the holiday season.

At the end of the day, these genetic testing kits are for entertainment: they should not be used to assess health risk in any meaningful way.

If you have any questions related to your health or a genetic disease, discuss these with your family doctor or a suitable health-care professional.

Michael Mackley, Junior Fellow, MacEachen Institute for Public Policy and Governance; Medical Student, Dalhousie University , The Canadian Press

Like us on Facebook and follow us on Twitter.

Get local stories you won't find anywhere else right to your inbox.
Sign up here

Just Posted

Seven-year-old Aaliyah Rosa was found dead in an apartment in Langley in July. (Langley Advance Times files)
Child’s body cold, no pulse, off duty cop testifies in Langley murder trial

The seven-year-old girl’s mother faces a first-degree murder charge

Trinity Western University’s men’s hockey team will host the three-team Captains Cup, featuring the University of British Columbia, Simon Fraser University and the Spartans, starting November 12th (Courtesy TWU)
Captains Cup hockey series comes to Langley

Trinity Western University to host UBC and SFU at George Preston arena

LOSC members worked out at the Aldergrove outdoor pool on Saturday, Oct. 24 (LOSC/Special to Langley Advance Times)
Swim club ‘broken-hearted’ by Langley Township pool decision

Staff report said it will cost less to reopen WC Blair instead of Walnut Grove

Washington State Department of Agriculture workers, wearing protective suits and working vacuumed a nest of Asian giant hornets from a tree Saturday, Oct. 24, 2020, in Blaine, Wash. Scientists in Washington state discovered the first nest earlier in the week of so-called murder hornets in the United States and worked to wipe it out Saturday morning to protect native honeybees. (AP Photo/Elaine Thompson)
Nest of ‘murder hornets’ found near South Surrey

String of traps set up along border to capture Asian giant hornets

Provincial health officer Dr. Bonnie Henry arrives for briefing on the COVID-19 situation, B.C. legislature, Oct. 26, 2020 (B.C. government)
B.C. records 217 more COVID-19 cases, mask use urged

Infection spike continues, 21 senior facilities affected

Los Angeles Dodgers celebrate after defeating the Tampa Bay Rays 3-1 to win the baseball World Series in Game 6 Tuesday, Oct. 27, 2020, in Arlington, Texas. (AP Photo/David J. Phillip)
L.A. Dodgers beat Rays 3-1 to win 1st World Series title since 1988

National League champs claim crown in six games

Pixabay photo
‘Horrific’ abuse of volunteers and staff by parents must stop, Chilliwack soccer club says

Parents have become abusive after being told COVID-19 rules, email says

Is it time to start thinking about greener ways to package cannabis?

Packaging suppliers are still figuring eco-friendly and affordable packaging options that fit the mandates of Cannabis Regulations

Join Black Press Media and Do Some Good

Pay it Forward program supports local businesses in their community giving

People march during a climate strike in Montreal, Friday, Sept. 27, 2019. THE CANADIAN PRESS/Graham Hughes
Judge rejects 15 youths’ climate change lawsuit against Canadian government

Justice Michael Manson has granted the government’s motion to strike the plaintiffs’ claim

A woman walks through check in at WestJet at Pearson International airport during the COVID-19 pandemic in Toronto on Wednesday, Oct. 14, 2020. THE CANADIAN PRESS/Nathan Denette
Strong support for pre-flight COVID testing ahead of upcoming WestJet trial: YVR

Airport is partnering with UBC, which is helping choose the method of pre-flight testing

Prime Minister Justin Trudeau provides an update on the COVID pandemic during a press conference in Ottawa on Tuesday, Oct. 27, 2020. THE CANADIAN PRESS/Sean Kilpatrick
Trudeau says pandemic ‘really sucks,’ and that Christmas gatherings are up in the air

The prime minister encouraged residents to continue to follow the advice of local health authorities

The Williams Lake Indian Band is stipulating no-go zones for mushroom picking in areas burned by last summer’s wildfires. 100 Mile Free Press photo
Who controls mushroom harvesting on Indigenous lands?

‘We don’t necessarily know where the mushrooms grow, how old the stands need to be, those types of things.’

Most Read