Untangling the web of home DNA testing kits

Where are you from? This is a question people ask each other fairly often in the Sea to Sky Corridor. With the most recent census data showing that over 80 per cent of the population in this region are of European descent, very few residents are, ancestrally speaking, "from here."

The rise of direct-to-consumer DNA testing is helping people find answers to questions around their family roots. While there has always been a segment of the population interested in their ancestry, genealogy and DNA are converging to create a new and powerful research tool: genetic genealogy, the use of DNA profiling or testing, in combination with more traditional genealogical methods, to infer biological relationships between people.

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Genetic genealogy is being used for medical research, such as oncogenomics, which strives to systematically identify cancer-causing genes; assisting in criminal investigations; and fuelling niche industries, such as genealogy tourism.

Family reunion

As DNA testing becomes more affordable and more popular — the MIT Technology Review reports that more than 26 million people have taken at-home DNA tests as of 2019, with forecasts predicting that number to reach as high as 100 million within the next two years — more families will be impacted by their loved ones' decision to flesh out their genealogical tree.

A powerful example of family reunification right here in the Sea to Sky comes from Pemberton-based writer and PR professional Blair Kaplan Venables. One day, she received a phone call from her cousin explaining there was a "family mystery" she could help solve.

Her mind raced as she stared at her phone.

"I really didn't know what this was about, but I can handle drama and all kinds of news, good and bad," she explains. "I wanted to jump in and see what the mystery was."

Kaplan Venables' relatives had recently received DNA tests as gifts, which had turned up an unlikely result.

"We know our family well," she adds. "Most of the matches that came up, when I got my results back, I was like, 'OK, yes, know him. Yup, I know her.' But one DNA match came up as being either my grandfather, my uncle or a half-brother. His name was 'Jeff H.' Who was this? There are no Jeffs in our family! My family is all really close; we are mostly all from Winnipeg, but a half-brother?"

Kaplan Venables dug deeper and made some phone calls, including to her father. Jeff H. was the result of her dad's relationship with a woman from well before he met Kaplan Venables' mother. A few calls later and the long lost half-siblings were in touch. They finally met in May of last year.

"It was bizarre," Kaplan Venables says of the meeting in a Canmore, Alta. restaurant. "It was like looking at my father's twin. I was so nervous that I couldn't speak much at first, which is odd in itself as I am a very extroverted person. It really was surreal."

Kaplan Venables views the addition of a brother to her family as a very positive experience.

"My half-brother has a good sense of humour," she explains. "He was adopted in Winnipeg and his adoptive parents raised him in Alberta. We have the same sense of humour, the same thumb, the same gait. He's a Kaplan."

As Douglas Coupland memorably writes in his 2016 book, Bit Rot: "In families, every member is assigned a role, and as long as we play that role correctly, regardless of its weirdness, everyone is happy."

Direct-to-consumer DNA tests, in some cases, are turning those well-worn family roles upside down. Raised alongside her sister, Kaplan Venables' discovery of a half-sibling through her father's previous relationship was life-changing indeed.

"One moment I was drinking wine in Osoyoos," she jokes, "the next moment I had a brother."

"You are going to get surprises," cautions Sharon Clayton, a member of the British Columbia Genealogy Society in the Lower Mainland, who hosts monthly roundtable discussions on genetic genealogy. Through her own DNA test, she has connected with previously unknown relatives in Jamaica, Scotland and Ireland.

DNA testing also reconnected Clayton with a daughter she gave up for adoption when she was 20. Describing their first meeting, Clayton says her daughter "is an extrovert and her adoptive parents were introverts. When we met, she was making crazy jokes and she told me that this was the first time she felt understood."

The decision to take a DNA test has overturned big stones for some. A segment on CBC Radio's Out In The Open, hosted by Piya Chattopadhyay, told the stories of four people whose lives were turned upside down by DNA test results. One story centred on a woman who found out her father had been switched at birth and raised by a completely different family — long before ID tags were immediately snapped around newborns' wrists in maternity wards.

DNA testing has also led to a rise in genealogy tourism, also called "roots tourism." Why tour a random country on a travel writer's bucket list when you can walk through the same neighbourhood, on the same streets, as your great-great-great-grandmother? Genetic testing service 23andMe, which counts more than five million users worldwide, has very publicly touted its partnership with Airbnb.

Genealogy tourism is especially lucrative for countries with large diasporas, such as Scotland and Ireland, with their respective tourism councils rolling out the welcome mat for those wanting to make the journey home — and vice versa. Last year, cruise line Cunard and Ancestry.com teamed up to offer a seven-day voyage on the Queen Mary 2 from Southampton, U.K. to New York City, with genealogists onboard offering seminars.

An increasing number of tourists are looking for more meaning in their travel adventures and an opportunity to connect with where their ancestors called home. Research from 2017 by Scotland's tourism office showed that 34 per cent of Canadian visitors to the country cited ancestry as the purpose of their visit.

Clayton herself now bases her and her husband's vacations around genealogical research and discovery. Clayton travelled to Scotland in 2016 to the Isle of Tiree in the Inner Hebrides, where her great-great-great-grandfather, John Campbell, drowned at sea with eight other men. Through DNA testing, Clayton connected with fellow descendants of Campbell, and the group erected a memorial cairn at Balephuil Bay, the site where the skiff was launched.

Public land acknowledgments of First Nations’ traditional territory are common and expected at Canadian public events and in schools. But tracing lineages from the largely oral traditions of many First Nations can be a challenge.

"Where are we from?" asked one Indigenous attendee at a Signal Hill Elementary School parent meeting in Pemberton last year. "We are from here. Everyone has a homeland. When we understand more about both our own homeland as well as the place we live now, it can lead to more appreciation about both places."

Leonard Andrew, cultural chief of the Lil'wat Nation in Mount Currie, thinks DNA testing is beneficial for Indigenous people hoping to learn more about their roots.

"I got it done and now I encourage people in our Nation to do it," he says. "Traditionally, genealogical information and family history used to be verbally passed down. Later, our birth and death records were all recorded by the Catholic church. Four years ago, I went to the back rooms of the Catholic church in Mount Currie, and all those records were still there. Now there is another way to get genealogical information. My grandmother's father was from Scotland."

With the mass digitization of birth, marriage and death records, family history research is more accessible. But even with reams of information just a click away, most amateur genealogists will, sooner or later, hit a dead end. In Scotland, prior to the mid-1800s, there was no official government record keeping. Birth, death and marriage records were all done through church parishes — and not every birth was recorded.

"It cost money," says Clayton. "If you were poor, you might not have registered your child's birth."

DNA testing has helped amateur genealogical researchers get past the brick walls that come up when historical record keeping proves unreliable.

Some are driven to DNA testing to see if they are from a particular ethnic group, including members of white supremacists looking to prove just how "white they are." Sometimes the results are not what they had hoped for. In a New York Times piece published last year, reporter Heather Murphy investigated what happened when members of the notorious hate site, Stormfront, learned that they did not meet their own genetic criteria for whiteness. What she found was that the website's users generally moulded the results to fit their pre-existing views or expressed scepticism over the science of the tests. Instead of shedding light on users' diverse racial makeup, the tests only served to reinforce long-held biases.

The Pentagon, meanwhile, has urged U.S. service members to avoid taking the tests. An internal memo sent last month warned that the mail-in DNA tests are unreliable, could create security risks and negatively affect members' careers.

The professional consequences of DNA testing are greater for the military than the average office worker, with the military making decisions on operational readiness based on genetic markers. If a test shows, for instance, that someone has carrier status for sickle cell trait, it could limit a member's advancement in certain aviation fields, Frederick Bieber, an associate professor of pathology at Harvard Medical School, told the Times.

Testing grounds

Several different DNA tests are commonly available. A mitochondrial DNA test, which traces a person's mother-line ancestry, will match you with others with the same mitochondrial DNA. It is limited in its usefulness as mitochondrial DNA changes less from generation to generation than the rest of our DNA, so it will not help a person determine when in the direct line you connected genetically. However, as it does go back relatively unchanged over thousands of years, it is useful in determining your haplogroup, a genetic population group of people who share a common ancestor, and often, a distinct migration route. A Y-DNA test compares a male's Y-chromosome markers to explore father-line ancestry. Like the mitochondrial DNA test, it will not indicate where in the direct patrilineal line two people link up. This test has been useful for people interested in surname genealogy projects.

An autosomal DNA test will show if you are related to others who have also taken the test with the same company and, significantly, what percentage of autosomal DNA you share. Parents share 50 per cent of their DNA with their children. First cousins share 12.5 per cent.

"I always encourage people to go with AncestryDNA," says Clayton. "They have the largest database, so there is a greater probability of finding living relatives than with the smaller companies."

As of 2019, AncestryDNA (a subsidiary of Ancestry.com) had 15 million DNA profiles in its database.

Privacy pitfalls

With the growing trove of data being mined through the explosion of DNA testing, compromised privacy is a legitimate concern.

"The United States is so mercenary," Clayton says. "Because we live in Canada with universal healthcare, I don't worry about my test results being compromised. In the U.S., there is a fear that you won't get covered by medical insurance if you have a predisposition to a health issue. This can have implications for employment as well. Insurance companies and employers would love to have their hands on this type of private information."

Genetic genealogy has been frequently in the news for its role in helping investigators solve cold cases. Larger services such as 23andMe and Ancestry.com do not share DNA test results with law enforcement without a warrant. However, GEDmatch, a non-profit DNA database out of Florida that people can upload their DNA profile to once they get their results from other companies, up until recently, was accessible to law enforcement. In May 2019, just days after BuzzFeed News reported that the website had contravened its own rules to allow Utah police to search for relatives of the perpetrator of a violent crime, GEDmatch updated its terms of service, requiring users to opt in in order for their DNA profiles to be searchable by law enforcement. The service has reportedly helped investigators solve dozens of crimes and counts 1.2 million DNA profiles. Since the policy change, 185,000 users have chosen to opt in and allow law enforcement to search their profiles.

It was through GEDmatch that the notorious Golden State Killer case was finally cracked in 2018. A genetic genealogist built a family tree based on DNA taken from crime scenes, and was able to narrow down the pool of suspects to just a handful. Law enforcement took it from there. Parabon NanoLabs, based in Virginia, has used GEDmatch to solve many other crimes, both cold cases and more recent crimes. Critics of the policy change have warned it will make it far more difficult for law enforcement agencies to identify suspects and solve cold cases using genetic data.

Direct-to-consumer DNA testing has appealed overwhelmingly to North Americans of European decent. As a result, genetic genealogy is having a significant impact on the racial imbalance of the pool of crime suspects. People of colour are heavily represented in CODIS, the DNA database used by U.S. law enforcement (in Canada, there is the National DNA Data Bank), and the wider prison system. Since law enforcement has been able to access the public database GEDmatch, racial bias in law enforcement is being addressed through DNA evidence from a population group that had been underrepresented in CODIS: white people. Unassailable DNA evidence is leading law enforcement to a more representative population — sometimes literally to the doorsteps of criminals of Northern European ancestry.

DNA testing may soon prove pointless — particularly to the overwhelmingly white majority that have taken to direct-to-consumer testing. Currently 60 per cent of the North American population of Northern European descent can be identified via a third cousin's DNA results — regardless if they have taken a test themselves. A recent report in the MIT Technology Review states that, with advances in DNA technology, within two years 90 per cent of North America's population of Northern European descent will be able to be identified via DNA test results.

Genetic prediction is more effective for people of white, European ancestry for a simple reason: they make up 80 per cent of participants in all genome-wide association studies, despite only representing a fraction of the global population. This has wider implications for medical research — genetic risk studies, in particular. All of humanity shares 99.9 per cent of all the identical letters of DNA. Where differences occur among ethnic groups is the pattern of genes we inherit from our families, which influences our risk to certain diseases, such as heart disease, diabetes and sickle cell disease.

With DNA-testing kits becoming ever-more popular as holiday and birthday gifts, a seemingly innocuous decision is changing lives and causing people to really question their identity. Those who think a simple Christmas gift will unearth some interesting facts about their heritage, and not turn their lives upside down, should not undertake the decision to spit into a plastic vial and send it away without really considering the implications. If an unexpected result comes back in the form of a half-sibling or discovering that one's father was not the person one thought, there are few mental health supports in place to support that person in a time of extreme stress. 23andMe does have links on its website for mental health support and a crisis line, but it does not employ a therapist, as a December 2019 Globe and Mail article ("Although popular as Christmas gifts, DNA kits can open up a Pandora's box of family secrets") reported. Ancestry.com also does not offer mental health support, leading those who have unexpected and possibly traumatic results to deal with these issues on their own.

In spite of the many implications linked to the DNA testing boom, Kaplan Venables says she has no regrets about taking the DNA test that reconfigured her family makeup. Connecting with her half-brother has been a welcome development in her life.

"I have a brother now. This is real life," she says.


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