The Complexities That Lie Within DNA Test Kits


For centuries, genealogists have relied on oral and written records to trace their family trees. With advances in genetic scientific studies, one of today’s tools–DNA testing–stirs controversy.

The most popular DNA testing firm, AncestryDNA, sold over 1.5 million at-home DNA testing kits the Thursday after Thanksgiving in 2017. These at-home DNA kits ranked in the top five most sold products on Amazon during black Friday shopping. The startling numbers triple what AncestryDNA sold in 2016.

The most general reasons for taking DNA tests are to find answers regarding adoption and medical issues, but by far the most popular reason is to find out one’s ethnicity.

The information tucked away in the branching lines of family trees can help individuals answer questions about the movement of their ancestors around the world through three of the main DNA testing companies, including 23andMe, AncestryDNA and Family Tree DNA.

Each company uses a sample of one’s saliva sent in a tube to the labs to analyze the data. The labs run a series of tests to decipher the origin of one’s ethnicity. The labs take the median results and present the information in the form of an ethnicity pie chart.

The ethnicity estimate references populations from around the world. People and populations have moved for thousands of years, and written history only reaches back a fraction of that time.

So how do the DNA tests work, where does the DNA go and what are the implications to the users?

 

Once the saliva swab has shipped

Melissa Garrett, AncestryDNA's media relations manager, says the company does gain ownership of a person’s DNA when a saliva sample is submitted to the labs. But the company added an updated privacy statement on Dec. 14, 2017 that protects people’s privacy, allowing a user to submit a request to destroy the DNA when one asks for it. It applies even to people whose DNA was stored before the clause was implemented.

"All AncestryDNA samples are sent for analysis at one of three lab locations in the U.S., operated by Illumina and Quest Diagnostics. All labs are compliant with regulatory requirements outlined by the Clinical Laboratory Improvement Act (CLIA),” says Garrett.

Garrett says he was not allowed to disclose the location of the labs for privacy and security reasons. When asked what training the laboratory technicians must have to handle the DNA samples, Garret says, “laboratory personnel must have specific education, training and experience and must perform competency testing every six months.”

Even with the assurance that the DNA is safely tucked away in an unidentified laboratory, the DNA kits have health officials concerned about the pace with which people are giving away their genetic DNA data to these ancestral companies.

On Dec. 12, 2017, the Federal Trade Commission released an advisory warning about the privacy implication of these at-home DNA testing kits. The FTC urged users to shop the market before deciding on one test and to look at the company’s policies for selling the DNA to a third party.

AncestryDNA owns the DNA once the saliva swab has shipped. “As of right now, AncestryDNA has no plans to sell our DNA service,” says Garrett.

If in the future, AncestryDNA were to sell to a third-party company, the company would acquire the DNA samples as a part of the business transition. AncestryDNA would no longer have control over what was done with their customer’s DNA—something to think about before sending a tube of saliva to an unknown laboratory in the U.S. 

 

Opt in or Out

AncestryDNA has an option when signing up with a DNA ancestry testing kit to ‘opt in’ to their research project. Every customer that activates a DNA kit has the choice to opt-in to the Ancestry Human Diversity Project—AncestryDNA’s IRB-approved research project.

However, this has revealed a grey area in the field of at-home DNA test kits in the genealogy field. Jeanne Bloom, board-certified genealogist and former president of Board for Certification of Genealogists, says, “The general population scientists focus on studying world migration patterns, not necessarily genealogy. Genealogists are the fruit flies of history, and these scientists don’t care about looking at generation to generation family histories—they care about migration research.”

To check if someone has opted in to the research project when registering their AncestryDNA kit, they can look on AncestryDNA.com and go to the DNA settings tab. Click on the 'Research Consent' option and it will identify one’s participation status.

 “Customers can withdraw their consent at any time and we will cease using their data for the project within 30 days,” says Garrett. “It is important to note, however, that data cannot be withdrawn from research already in progress or completed or from published results and findings. Ancestry always strips shared data of any information that could tie it back to its owner when working with third parties.”

When looking at the results for the sample reference populations that are cross referenced with a DNA sample to decipher geographically where their ethnicities lie, “the results are compared to the statistics and the reference populations that AncestryDNA uses to give users their ancestral ethnicity chart,” says Garrett.

 AncestryDNA.com features a chart of the number of samples in each of the 26 regions in the AncestryDNA reference groups. Europe East has the largest number of samples with 432 samples, while other regions such as Mali has as little as 16 samples.

The ethnicity pie charts of each completed DNA kit show an estimate, not absolute truth. This is not a diagnostic test in terms of ethnicity.

AncestryDNA uses an autosomal DNA test that surveys a person's entire genome at over 770,000 locations. It covers both the maternal and paternal sides of the family tree, so it covers all lineages. “AncestryDNA relies heavily on self-reporting trees. Self-reporting family trees are only as good as the person who has keyed in the data”, says Bloom. “Who is self-testing? This is also a varying factor in how their database skews.”

People are paying to take these tests, on average the testing kits cost $79-100 dollars with occasional specials, so there is a certain skewing for European results simply because you need to purchase the kit. Half of the jobs in America pay less than $18 an hour, according to Labor Department Data. That equates to a salary of $37,000 a year if that person is working full-time. Forty percent of the jobs make less than $15.50 an hour. The percentage of people who have disposable income to spend on a testing kit, in America alone, is cut in half. The tests are simply too expensive for most of the population, thus resulting in a skewing for European results.

For the first two years of sales, the DNA kits were only sold in the United States. AncestryDNA now ships to over 30 countries globally. In a press release dated March 10, 2016 announcing the expansion, the top countries added are Austria, Scandinavia, Eastern Europe and North Korea—the only country added not within the boundaries or country lines of Europe. 

“The people taking these tests may be doing them just for a great cocktail conversation piece, but you cannot take the results at face value—you have got to do the leg work to prove the ethnicity pie chart that these tests spew out,” says Bloom.

The results are the most accurate when deciphering by continent, but within a continent there can be discrepancies.

Debra Renard, a professional genetic genealogist and founder of Eureka! Genealogy, says, “You are not going to find people who have a pure ethnicity, there are some rare cases of course, but what you typically find is people are much more mixed than what you would expect. That includes not just people of color, but Caucasians, as well, find all kinds of different components to their genetic makeup that they had no idea before.”

 

Emotional Rollercoaster for Cocktail Conversation

 Many people taking these tests are interested in the ethnicity pie chart that makes for great cocktail conversation, but people do not realize that these tests could reveal results that could potentially upend their lives. 

 “For specific situations, DNA testing kits can help break-down brick walls, but don’t do it just for the entertainment value,” says Grace Dumelle, genealogist at the Newberry Library and author of Finding Your Chicago Ancestors. “I prefer the detective work of going out of my way to find the answer—shoe-leather reporting can’t be beat.”

For adoptees or people searching for their birth parents, “identifying a biological parent doesn’t mean there will be a relationship,” says Bloom. “It is fraught with danger because a surrendered child has been living in their head, and they have many scenarios and whether those scenarios actually meet their expectations. If someone denies contact, one has to weigh the weight that biological parent may be carrying—what you find may not be the picket fence you have been hoping for.”

When answers are discovered building the family tree, reaching out to a possible family member proves to yield different reactions. If the person who is being contacted never had the knowledge of the adoptee’s existence—tensions, emotions and hidden family secrets come to the surface. Brick walls can tower back up, and the reactions of even the adoptee can greatly differ when they finally have the facts. There are great reunion stories, but those searching should be prepared to gain knowledge of family genealogy—not always a family relationship.

However, a lot can be learned from analyzing the question of who one is. In the United States the DNA tests can show that a citizens’ nationality may be American, but their ethnicity is scattered across the globe—a lesson that the country dearly needs.


See one woman’s dramatic journey of finding her birth parents through a saliva sample.