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Have Low-cost Direct-to-Consumer Genetic Tests Changed Census Results in America?

Citizens claiming racial diversity increased by 276% in the 2020 census, leading experts to wonder if racial diversity is increasing or if people are simply electing to identify as such and how this trend will affect healthcare

Once again, we see another unexpected consequence to expanded DNA testing done by consumers for their own interests and needs. As NPR recently reported in “The Census Has Revealed a More Multiracial US. One Reason? Cheaper DNA Tests,” the growing trend of ordering low-cost direct-to-consumer (DTC) genetic testing to identify cultural heritage (where a family came from) and genealogy (to connect with extant family members) has educated healthcare consumers more about their cultural roots.

Such knowledge, NPR speculates, is allowing people to complete their census survey with more accurate “heritage” classifications.

How does this affect clinical laboratories? As Dark Daily covered in “Popularity of Direct-to-Consumer Genetic Tests Still Growing, Regardless of Concerns from Provider and Privacy Organizations,” popularity of at-home testing—including DNA testing—coupled with demand for increasingly personalized medicine (PM) in healthcare, will likely change the types of test orders medical laboratories receive from physicians.

What Did the 2020 Census Show?

The last US census showed an interesting change compared to previous census surveys. More Americans identified themselves as racially diverse than in previous censuses. Scientists in multiple specialty areas—including demographics, sociology, genetics, and more—are asking why.

According to federal Census Bureau data, in the most recent census, people who identify as more than one race rose by 276%! Scientists are only just beginning to hypothesize the reasons for this increase, but three potential factors, NPR reported, have emerged:

  • More children are being born to parents who identify with racial groups that are different from one another.
  • In 2017, the federal government made minor changes to how the census asked questions about race and in how those answers were categorized.
  • People are reconsidering what they want the government to know about their identities, according to Duke University Press.

The increased incidence of DNA testing for cultural heritage may be an additional factor in the different ways people identified themselves during the census, driving its popularity, NPR noted. More people are purchasing at-home DNA tests to learn where their ancestors lived and came from, and their family’s genealogy.

“Exactly how big of an effect these tests had on census results is difficult to pin down,” NPR reported. “But many researchers agree that as the cost of at-home kits fell in recent years, they have helped shape an increasing share of the country’s ever-changing ideas about the social construct that is race.”

How the Census Alters Government Policy

Pew Research noted that, although only about 16% of Americans have taken an ancestry DNA test, the marketing efforts of “companies such as 23andMe and, which operates the AncestryDNA service, should not be underestimated,” NPR reported.  They have a wide reach, and those efforts could be impacting how people think about race and ethnic identity.

For most of human history, social experience and contemporary family history have been the drivers of how people identified themselves. However, low-cost DTC genetic testing may be changing that.

Jenifer Bratter, PhD

“The public has kind of taken in the notion that you can find out ‘who you are’ with a test that’s supposed to analyze your genes,” Jenifer Bratter, PhD (above), a Professor of Sociology at Rice University who studies multiracial identity, told NPR. “What that does for anyone who does work in racial identity and racial demography is cause us to think through how genetic ideas of race are in public circulation.” Desire by healthcare consumers to know their risk for chronic disease has already driven a marked increase in demand for low-cost DNA testing, which has also affected the types of test orders clinical laboratory are receiving from doctors. (Photo copyright: Rice University.)

One concern that sociologists and demographers have about this trend is that the US census is an important tool in policy, civil rights protections, and even how researchers measure things like healthcare access disparities.

“You’re going to have a lot more people who are not part of marginalized groups in terms of their social experiences claiming to be part of marginalized groups. When it comes to understanding discrimination or inequality, we’re going have very inaccurate estimates,” says Wendy Roth, PhD, Associate Professor of Sociology, University of Pennsylvania, told NPR.

Cherry-picking One’s Racial Identity

In “Genetic Options: The Impact of Genetic Ancestry Testing on Consumers’ Racial and Ethnic Identities,” published in the American Journal of Sociology, Roth and her fellow researchers theorized that DTC at-home DNA test-takers do not accept the results fully, but rather choose based on their identity aspirations and social appraisals.

They developed the “genetic options” theory, “to account for how genetic ancestry tests influence consumers’ ethnic and racial identities.” They wrote, “The rapid growth of genetic ancestry testing has brought concerns that these tests will transform consumers’ racial and ethnic identities, producing “geneticized” identities determined by genetic knowledge.”

However, a more healthcare-related motivation for taking a DTC DNA test is to learn about one’s potential risks for familial chronic health conditions, such as cancer, heart disease, and diabetes, etc.

In “With Consumer Demand for Ancestry and Genealogy Genetic Tests Waning, Leading Genomics Companies are Investigating Ways to Commercialize the Aggregated Genetics Data They Have Collected,” Dark Daily noted that, faced with lagging sales and employee layoffs, genomics companies in the genealogy DNA testing market are shifting their focus to the healthcare aspects of the consumer genomics data they have already compiled and aggregated.

According to Joe Grzymski, PhD, Chief Scientific Officer at Renown Health and Associate Research Professor of Computational Biology at Desert Research Institute, a research campus of the University of Nevada Reno, the consumer market is going to become more integrated into the healthcare experience.

“Whether that occurs through your primary care doctor, your large integrated health network, or your payor, I think there will be profound changes in society’s tolerance for using genetics for prevention,” he told GenomeWeb.

Regardless, as Dark Daily reported in 2020, sales of genetic tests from Ancestry and 23andMe show the market is cooling. Thus, with less than 20% of the population having taken DNA tests, and with sales slowing, genetics testing may not affect responses on the next US census, which is scheduled for April 1, 2030.

In the meantime, clinical laboratory managers should recognize how and why more consumers are interested in ordering their own medical laboratory tests and incorporate this trend into their lab’s strategic planning.

—Dava Stewart

Related Information:

The Census Has Revealed a More Multiracial US. One Reason? Cheaper DNA Tests

Percentage of Population and Percent Change by Race: 2010 and 2020

Revisions to the Standards for the Classification of Federal Data on Race and Ethnicity

America’s Churning Races: Race and Ethnicity Response Changes Between Census 2000 and the 2010 Census

About Half of Americans Are OK with DNA Testing Companies Sharing User Data with Law Enforcement

Genetic Options: The Impact of Genetic Ancestry Testing on Consumers’ Racial and Ethnic Identities

With Consumer Demand for Ancestry and Genealogy Genetic Tests Waning, Leading Genomics Companies Are Investigating Ways to Commercialize the Aggregated Genetics Data They Have Collected

Consumer Reports Identifies ‘Potential Pitfalls’ of Direct-to-Consumer Genetic Tests

Popularity of Direct-to-Consumer Genetic Tests Still Growing, Regardless of Concerns from Provider and Privacy Organizations

How One Company’s Saliva Spit Tubes Dominate the DNA Collection Device Market by Maintaining Specimen Integrity for as Long as Two Years

From point-of-care diagnostic tests to ancestral DNA home-testing, this company’s spit tubes are used by more medical laboratories than any other brand

Most clinical laboratory specialists know that OraSure Technologies of Bethlehem, Pa., was the first company to develop a rapid point-of-care DNA diagnostic test for HIV back in the 1990s. This was a big deal. It meant physicians could test patients during office visits and receive the results while the patients were still in the office. Since many patients fail to follow through on doctors’ test orders, this also meant physicians were diagnosing more patients with HIV than ever before.

Today, OraSure is the dominant company in the spit tube industry. OraSure claims its tubes contain patented chemical preservatives that can maintain the specimen’s integrity for up to two years at room temperature. That’s a long time. And this one feature has made OraSure popular with direct-to-consumer (DTC) genetic home-test developers.

OraSure provides nearly all of the specimen receptacles used by individuals searching for their ancestral roots. It’s estimated that about 90% of the DTC genetic-testing market uses the company’s spit tubes. This is partly because OraSure makes the only tubes approved by the US Food and Drug Administration (FDA) for home DNA-testing purposes. 

“The FDA approval gives customers confidence,” Mark Massaro, Managing Director, Senior Equity Analyst at investment bank Canaccord Genuity Group, told Bloomberg. “That, and they can preserve saliva for a long time.”

The OraSure spit tube above contains a patented mix of chemicals that can maintain saliva’s integrity for up to two years at room temperature. This is critical for ensuring specimens arrive at medical laboratories in usable condition to produce accurate test results. (Photo copyright: Zhongjia Sun/Bloomberg Businessweek.)

Spit, Close, Recap, Send

To use the saliva-testing DNA kits, an individual first spits into the tube and then snaps the cap on the tube shut. This action perforates a membrane which contains a patented, chemical mix of preservatives. These chemicals help preserve the sample and minimize contamination from non-human DNA that may be present.

“You’ve got to make it as easy as possible for a person to spit in the tube, close the tube, recap the tube, and send it to you without any variation,” Stephen Tang, PhD, President and Chief Executive Officer at OraSure, told Bloomberg

Saliva samples are very susceptible to environmental factors like temperature and are extremely time sensitive. They need to be properly handled and stored to prevent any degradation and ensure the most accurate test results. Once in the spit tube, a saliva sample can last more than two years at room temperature, according to the company. 

“That’s the secret,” Tang stated. “Saliva is not pure. It’s got a lot of bacteria and other stuff swimming in it.”

OraSure reported the company made $182 million in revenue in 2018, with about $20 million of that amount being profit. DNA Genotek, Inc., a subsidiary of OraSure designed the T-shaped spit tubes being used for consumer-DNA testing kits.

Other Clinical Laboratory Uses for Specimen-Collection Devices

In addition to the consumer-DNA industry, OraSure’s tube technology is used in clinical and academic laboratory situations as well as in veterinary DNA testing. The company is focused on expanding the uses for their specimen-collection technology. They have recently begun using their technology to collect urine specimens for diagnosing sexually transmitted diseases and other conditions. OraSure also has added devices for feces collection, to better compete in the developing field of microbiome for gut bacteria analysis.  

“We are all about the integrity of the sample collection,” Tang says. “It’s a wide-open field.”

Ancestry Sued by OraSure

In 2017, agreed to pay OraSure $12.5 million to settle a lawsuit which alleged the company had copied OraSure’s patented DNA testing technology to produce their own saliva-based DNA test. 

According to the lawsuit, purchased saliva test kits from DNA Genotek in 2012 and 2013 for the purpose of collecting saliva samples from their customers. In 2013, filed for a patent of their own for an improved variation of the kits reportedly without DNA Genotek’s consent. 

OraSure’s test products include:

OraSure also has devices for substance abuse testing, cryosurgical kits for the testing of skin lesions, and kits for forensic toxicology. 

Maintaining specimen integrity is critical to ensure lab test results are accurate and reproducible. OraSure’s spit tube technology solves the problem of preserving specimens while they are transported to clinical laboratories and other pathology facilities. 

—JP Schlingman

Related Information:

One Company Makes Almost All the Home DNA Test Spit Tubes

OraSure Settles Lawsuit with over DNA Testing

The Problems with Ancestry DNA Analyses

Diagnostic medical laboratories may sequence DNA genetic tests correctly, but there are issues with how companies analyze the information

In 2017, some 12 million people paid to spit in a tube and have their genetic data analyzed, according to Technology Review. Many companies offer this type of DNA testing, and each of them works with one or more clinical laboratories to get the actual sequencing performed. For example,, one of the largest direct-to-consumer genetic data testing companies, works with both Quest Diagnostics and Illumina.

In the case of Quest Diagnostics, the clinical laboratory company does the actual sequencing for Ancestry. But the analysis of the genetic data for an individual and its interpretation is performed by Ancestry’s team.

There are critics of the booming direct-to-consumer genetic testing business, but it’s not due to the quality of the sequencing. Rather, critics cite other issues, such as:

  • Privacy concerns;
  • How the physical samples are stored and used;
  • Who owns the data; and,
  • That this branch of genetics is an area of emerging study and not clearly understood.

What Does All That Genetic Data Mean?

The consumer DNA testing market was worth $359 million dollars in 2017 and is projected to grow to $928 million by 2023, according to a report from Research and Markets. Those numbers represent a lot of spit, and an enormous amount of personal health information. As of now, some one in every 25 adults in the US has access to their genetic data. But, what does all that data mean?

The answer depends, in large part, on who you ask. Many reporters, scientists, and others have taken multiple DNA tests from different companies and received entirely different results. In some cases, the sequencing from one sample submitted to different companies for analysis have rendered dramatically different results.

“There is a wild-west aspect to all of this,” Erin Murphy, a New York University law professor and genetics specialist who focuses on privacy implications, told McClatchy. “It just takes one person in a family to reveal the genetic information of everyone in the family,” she notes. (Photo copyright: New York University.)

It’s All About the Database

Although some people purchase kits from multiple companies, the majority of people take just one test. Each person who buys genetic analysis from Ancestry, for example, consents to having his/her data become part of Ancestry’s enormous database, which is used to perform the analyses that people pay for. There are some interesting implications to how these databases are built.

First, they are primarily made up of paying customers, which means that the vast majority of genetic datasets in Ancestry’s database come from people who have enough disposable income to purchase the kit and analysis. It may not seem like an important detail, but it shows that the comparison population is not the same as the general population.

Second, because the analyses compare the sample DNA to DNA already in the database, it matters how many people from any given area have taken the test and are in the database. An article in Gizmodo describes one family’s experience with DNA testing and some of the pitfalls. The author quotes a representative from the company 23andMe as saying, “Different companies have different reference data sets and different algorithms, hence the variance in results. Middle Eastern reference populations [for example] are not as well represented as European, an industry-wide challenge.”

The same is true for any population where not many members have taken the test for a particular company. In an interview with NPR about trying to find information about her ancestry, journalist Alex Wagner described a similar problem, saying, “There are not a lot of Burmese people taking DNA tests … and so, the results that were returned were kind of nebulous.”

Wagner’s mother and grandmother both immigrated to the US from Burma in 1965, and when Wagner began investigating her ancestry, she, both of her parents, and her grandmother, all took tests from three different direct-to-consumer DNA testing companies. To Wagner’s surprise, her mother and grandmother both had results that showed they were Mongolian, but none of the results indicated Burmese heritage. In the interview she says that one of the biggest things she learned through doing all these tests was that “a lot of these DNA test companies [are] commercial enterprises. So, they basically purchase or acquire DNA samples on market-demand.”

As it turns out, there aren’t many Burmese people taking DNA tests, so there’s not much reason for the testing companies to pursue having a robust Burmese or even Southeast Asian database of DNA.

Who Owns Your Genetic Data?

As is often the case when it comes to technological advances, existing law hasn’t quite caught up with the market for ancestry DNA testing. There are some important unanswered questions, such as who owns the data that results from a DNA analysis?

An investigation conducted by the news organization McClatchy found that Ancestry does allow customers to request their DNA information be deleted from the company’s database, and that they can request their physical sample be destroyed as well. The author writes, “But it is a two-step process, and customers must read deep into the company’s privacy statement to learn how to do it. Requests for DNA data elimination can be made online, but the company asks customers to call its support center to request destruction of their biological sample.”

Another concern is hacking or theft. Ancestry and similar companies take steps to protect customers’ information, such as using barcodes rather than names and encryption when samples are sent to labs. Nevertheless, there was an incident in 2017 in which hackers infiltrated a website owned by Ancestry called RootsWeb. “The RootsWeb situation was certainly unfortunate,” Eric Heath, Ancestry’s Chief Privacy Officer, told McClatchy. He added that RootsWeb was a “completely separate system” from the Ancestry database that includes DNA information.

What We Don’t Know

The biggest pitfall for consumers may be that geneticists don’t know very much about DNA analysis. Adam Rutherford, PhD, is a British geneticist who interviewed for the Gizmodo story. He said that the real problem with companies like Ancestry is that people have a basic, fundamental misunderstanding of what can be learned from a DNA test.

“They’re not telling you where your DNA comes from in the past. They’re telling you where on Earth your DNA is from today,” Rutherford told Gizmodo.

Science evolves, of course, and genetic testing has much evolving to do. The author of the Gizmodo piece writes, “It’s not that the science is bad. It’s that it’s inherently imperfect.” There aren’t any best-practices for analyzing DNA data yet, and companies like Ancestry aren’t doing much to make sure their customers understand that fact.

Nevertheless, issues surrounding genetic testing, the resulting data, and its storage, interpretation, and protection, continue to impact clinical laboratories and anatomic pathology groups.

—Dava Stewart

Related Information:

2017 Was the Year Consumer DNA Testing Blew Up

Quest Diagnostics and Ancestry DNA Collaborate to Expand Consumer DNA Testing

Illumina, Secret Giant of DNA Sequencing, Is Bringing Its Tech to the Masses

Global $928 Million Consumer DNA (Genetic) Testing Market 2018-2023 with 23andMe, Ancestry, Color Genomics and Gene by Gene Dominating

How DNA Testing Botched My Family’s Heritage, and Probably Yours, Too

A Journalist Seeks Out Her Roots but Finds Few Answers in the Soil

Ancestry Wants Your Spit, Your DNA and Your Trust. Should You Give Them All Three?

AncestryDNA Collaborates with Quest Diagnostics to Provide Home DNA Testing to Healthcare Consumers

Pathologists should note that this agreement is not without controversy as the question over who owns patients’ DNA information sparks warnings from legal experts

Did you ever wonder which lab does all the genetic testing for Ancestry as it offers to help consumers learn more about their family histories? Also, were you ever curious about the actual number of genetic tests that Ancestry has generated? After all, its advertisements for these genetic tests are ubiquitous.

You won’t have to wonder any longer, because Dark Daily has the answers. To the first question, it is Quest Diagnostics, Incorporated (NYSE:DGX)—one of the world’s largest clinical laboratory companies—that does the genetic sequencing on the consumer samples provided to it by Ancestry.

To the second question, the number of individual samples in the Ancestry repository and database is now four million, according to information on its website.

AncestryDNA (Ancestry) and Quest Diagnostics (Quest) now collaborate to help consumers learn about their family histories and unlock secrets in their DNA. Since August of 2016, Quest has performed the genomic testing for home DNA kits ordered through What impact might this have on medical laboratories that perform DNA testing for health and medical reasons?

DNA Testing Reveals Who We Truly Are

“We are very excited to be partnering with Quest Diagnostics to offer our consumer DNA test to more consumers around the world,” stated Tim Sullivan, President and CEO at Ancestry in a news release that announced the genetic testing agreement between the two companies.

To utilize the AncestryDNA service, consumers must first order a DNA kit online through the Ancestry website. The cost of the kit is $99. This includes instructions, a saliva collection tube, and a pre-paid return mailer.

DNA collection kits like the one shown above let people at home do much of the work normally performed in clinical laboratory settings. Though it’s inexpensive compared to standard DNA testing, there is controversy over privacy and ownership of the DNA information. (Photo copyright: BBC/Getty Images.)

After collecting a saliva sample, the customer sends it in for processing. Once the test is completed, an e-mail notification informs the patient that the results can be viewed on AncestryDNA’s website. Typically, a test is completed within six to eight weeks.

The DNA test uses microarray-based autosomal DNA testing, analyzing as many as 700,000 changes in an individual’s genome. These changes (or variations) are called single-nucleotide polymorphisms, or SNPs for short. They are useful in identifying a person’s true ethnicity and can distinguish possible relatives from among people who have previously taken the AncestryDNA test.

“Our focus is on helping consumers around the world take advantage of the latest technology and science to help them learn more about themselves, their families, and their place in the world,” stated Sullivan in another news release.

Managing One’s Health with DNA Information

As noted earlier, AncestryDNA has collected more than four-million DNA samples. Remarkably, its genetic testing service is currently available in more than 30 countries around the globe, according to Ancestry’s website.

The two companies hope to expand their relationship to include the development of applications to explore valuable medical and health information for consumers.

“People are very interested in their family history, and knowing one’s family health history is very important in helping us manage our health,” noted Stephen Rusckowski, Chairman, President and Chief Executive Officer of Quest Diagnostics.

The actual genetic testing is being performed at Quest Diagnostics’ 200,000 square foot facility located in Marlborough, Mass. Quest Diagnostics was chosen for the collaboration after Ancestry requested proposals from several laboratory organizations.

“Adding a second diagnostic partner is a critical step forward as we work to continue to meet the consumer demand we’re seeing for our DNA tests in the US and markets around the world,” stated Ken Chahine, PhD, JD, Executive Vice President at Ancestry and professor at University of Utah S. J. Quinney College of Law in Salt Lake City, in a press release. “We’ll also now be able to move toward an East-West logistical approach, testing kits closer to where our consumers live and, ideally, reducing the time they need to wait to receive their results.”

Concerns Over Patient Privacy and DNA Ownership

Ancestry’s genetic testing program is not without its critics. There are concerns regarding privacy issues and DNA ownership for consumers who use AncestryDNA. Joel Winston, Esq. is a New York attorney who specializes in consumer protection law and commercial litigation. In an article, Winston claimed that Ancestry’s privacy policy and terms of service gave the company complete ownership and control of submitted DNA.

“There are three significant provisions in the AncestryDNA Privacy Policy and Terms of Service to consider on behalf of yourself and your genetic relatives: (1) the perpetual, royalty-free, world-wide license to use your DNA; (2) the warning that DNA information may be used against “you or a genetic relative”; (3) your waiver of legal rights,” Winston wrote.

He claims that Ancestry customers are relinquishing their genetic privacy when they agree to the terms online. Winston urged consumers to fully read, consider, and understand the terms before agreeing to them.

Ancestry responded to the claims by releasing updated terms and conditions for clarity regarding ownership of DNA and information sharing. The company maintains they do not claim ownership rights to DNA submitted to them for testing, and that they do not share DNA testing results with other entities and organizations without customer permission.

In an interview with BBC Radio 4, a spokesperson for Ancestry stated, “We do not share user data for research unless the user has voluntarily opted-in to that sharing.” Adding, “We always de-identify data before it’s shared with researchers, meaning the data is stripped of any information that could tie it back to its owner.”

Nevertheless, Ancestry also stated they would be removing the “perpetuity clause” in AncestryDNA’s online terms and agreements.

The controversy continues and has sparked much debate and reportage from outlets that follow trends in DNA testing and medical laboratories. One such report by the debunking site Snopes attempts to clarify the issues.

Regardless of the debate over ownership of a person’s DNA, this collaboration between Ancestry and Quest Diagnostics is an example of a company relying on diagnostic industry vendors and clinical laboratories to perform services for its customers. It illustrates the need for clinicians and laboratory professionals to remain current on industry trends in ways that might help their labs to increase profits and provide value-added services to consumers. Ancestry’s growing volume of consumer testing demonstrates that there is a potential market for medical laboratories that make themselves available to consumers to answer questions and concerns about DNA testing.

—JP Schlingman

Related Information:

Quest Diagnostics and AncestryDNA Collaborate to Expand Consumer DNA Testing

Ancestry Sets Ancestry DNA Sales Record Over Holiday Period and Fourth Quarter

Clustering of 770,000 Genomes Reveals Post-Colonial Population Structure of North America DNA Database Tops 3M, Sales Rise to $850M Ahead of Likely 2017 IPO Takes DNA Ownership Rights from Customers and Their Relatives

Setting the Record Straight: Ancestry and Your DNA

Can Take Ownership of Your DNA Data? Denies Exploiting Users’ DNA

Coverage of Alexion Investigation Highlights the Risk to Clinical Laboratories That Sell Blinded Medical Data