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Clinical Laboratories and Pathology Groups

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17 Former Employees Accuse Orig3n of Clinical Laboratory Test Inaccuracies, Contamination, and Fabricated Test Results

This is not the first time genetic-testing company Orig3n has been scrutinized by state and federal investigators over its business practices

It’s not often that multiple employees of a clinical laboratory company go public with criticism about the quality of their lab company’s tests. But that is what is happening at Orig3n. Problems at the Boston-based genetic testing company were the subject of an investigative report published by Bloomberg Businessweek (Bloomberg).

In September, Bloomberg reported that 17 former Orig3n employees said the company’s Deoxyribonucleic acid (DNA) tests sometimes failed to deliver the intended results or were often contaminated or inaccurate. The individuals had been employed by the company as managers, lab technicians, software engineers, marketers, and salespeople between 2015 and 2018.

The former employees claimed that Orig3n “habitually cut corners, tampered with or fabricated results, and failed to meet basic scientific standards,” Bloomberg reported. The individuals also stated that advice intended to be personalized to individual consumers’ genetic profiles was often just generic information or advice that had no scientific basis.

According to Bloomberg, the individuals also alleged that Orig3n’s lab was careless in its handling of genetic samples in several ways, including:

  • Multiple samples being labeled with the same barcode;
  • DNA and blood samples for stem cell bank misplaced or mixed up;
  • No controls to ensure accuracy;
  • Handling methods that could lead to contamination; and
  • Fabricating results when a test outcome was unclear.

The former employees also stated that “Orig3n ran tests without proper authorization in its lab at the 49ers’ stadium, and that managers regularly compelled them to write positive reviews of Orig3n’s tests on and Google to offset waves of negative feedback,” Bloomberg reported.

“Accurate science didn’t seem to be a priority. Marketing was the priority,” said a former lab technician who spoke with Bloomberg on the condition of anonymity. Orig3n denied the accusations in a statement, describing them as “grossly inaccurate,” and claimed the former employees were simply disgruntled.

“In some cases, former employees are former employees for a reason,” Orig3n Chief Executive Officer Robin Smith told Bloomberg. “We’ve found after employees are gone that they have not done things appropriately.”

Jessica Stoll, MS, CGC (above), a certified genetic counselor and Associate Director of the Gastrointestinal Cancer Risk and Prevention Clinic at the University of Chicago Medicine, told NBC, “The majority of genetic testing is still a gray area and there’s always the possibility of uncertain results. I don’t find them particularly useful, and in some cases I can actually find them harmful.” (Photo copyright: Cancer Wellness Center.)

Is it Dog or Human DNA?

In 2018, NBC Chicago (NBC) conducted an investigation into various consumer DNA testing kits. NBC sent DNA samples to several different testing companies. This included non-human samples, which NBC’s investigators had obtained from a female Labrador Retriever.

With the exception of Orig3n, all of companies identified the DNA as non-human and did not process the kits. Orig3n did, however, process the canine DNA. It then returned a seven-page analysis that suggested the subject of the sample “would probably be great for quick movements like boxing and basketball, and that she has the cardiac output for long endurance bike rides or runs,” NBC reported.

This would be funny if it weren’t so concerning.

Following reports that it had processed dog DNA, Orig3n stated it had made changes and improvements to the company’s testing methodologies. Smith also stated Orig3n’s lab protocols had been improved as well.

“Sometimes we look at the accuracy of things and go, ‘Man, that’s not working,’” Smith told Bloomberg. “Our approach and our philosophy is [sic] to constantly improve the products.” 

Serious Accusations of Clinical Laboratory Malfeasance

Founded in 2014 with the intent of creating the world’s largest stem cell bank, by 2016, Boston-based Orig3n had refocused its attention on the burgeoning field of direct-to-consumer DNA testing. On its website, Orig3n sells several DNA-testing kits with varying costs.

Orig3n’s attempt to offer free genetic tests to large numbers of people at a professional sporting event in the fall of 2017 may be what caught the attention of federal investigators and led to a deeper investigation. Dark Daily previously covered this controversy, which centered around Orig3n’s plan to distribute free genetic testing kits to fans at a Baltimore Ravens football game.

In that situation, state and federal healthcare regulators blocked the giveaway over concerns about protected health information (PHI). Now, Orig3n is being accused of questionable business practices by 17 of its former employees. 

The former employees’ statements that the company’s genetic testing lab did not follow appropriate test protocols—and that it allegedly mishandled specimens and even reported false test results—are serious allegation of malfeasance and warrants an investigation.

Pathologists and clinical laboratory managers know that patient harm can potentially result from inaccurate genetic test results if used for clinical purposes. Dark Daily will continue to follow the investigation into Orig3n.

—JP Schlingman

Related Information:

DNA Company Tampered with Results, Former Employees Say

Home DNA Kits: What Do They Tell You?

Orig3n Holds Inaugural Ravens DNA Day on September 17 at M and T Bank Stadium to Kick Off the Season

Orig3n Partners with San Francisco 49ers to Reward Fans for Contributions to Advancing the Future of Medicine through Genetics and Regenerative Medicine Research

State and Federal Agencies Throw Yellow Flag Delaying Free Genetic Tests at NFL Games in Baltimore—Are Clinical Laboratories on Notice about Free Testing?

University of Washington and Microsoft Research Encode Data into DNA, Demonstrating Potential New Use for Genetic Sequences

The proof-of-concept experiment showed data can be encoded in DNA and retrieved using automated systems, a development that may have positive significance for clinical laboratories

It may seem far-fetched, but computer scientists and research groups have worked for years to discover if it is possible to store data on Deoxyribonucleic acid (DNA). Now, Microsoft Research (MR) and the University of Washington (UW) have achieved just that, and the implications of their success could be far-reaching.

Clinical pathologists are increasingly performing genetic DNA sequencing in their medical laboratories to identify biomarkers for disease, help clinicians understand their patients’ risk for a specific disease, and track the progression of a disease. The ability to store data in DNA would take that to another level and could have an impact on diagnostic pathology. Pathologist familiar with DNA sequencing may find a whole new area of medical service open to them.

The MR/UW researchers recently demonstrated a fully automated system that encoded data into DNA and then recovered the information as digital data. “In a simple proof-of-concept test, the team successfully encoded the word ‘hello’ in snippets of fabricated DNA and converted it back to digital data using a fully automated end-to-end system,” Microsoft stated in a news release.

The MR/UW team published their findings in Nature Scientific Reports.

DNA’s Potential Storage Capacity and Why We Need It

Thus far, the challenge of using DNA for data storage has been that there wasn’t a way to easily code and retrieve the information. That, however, seems to be changing quite rapidly. Several major companies have invested heavily in research, with consumer offerings expected soon.

At Microsoft Research, ‘consumer interest’ in genetic testing has driven the research into using DNA for data storage. “As People get better access to their own DNA, why not also give them the ability to read any kind of data written in DNA?” asked Doug Carmean, an Architect at Microsoft, during an interview with Wired.

Scientists are interested in using DNA for data storage because humanity is creating more data than ever before, and the pace is accelerating. Currently, most of that data is stored on tape, which is inexpensive, but has drawbacks. Tape degrades and has to be replaced every 10 years or so. But DNA, on the other hand, lasts for thousands of years!

“DNA won’t degrade over time like cassette tapes and CDs, and it won’t become obsolete,” Yaniv Erlich, PhD, Chief Science Officer at MyHeritage, an online genealogy platform located in Israel, and Associate Professor, Columbia University, told Science Mag.

Tape also takes up an enormous amount of physical space compared to DNA. One single gram of DNA can hold 215 petabytes (roughly one zettabyte) of data. Wired puts the storage capacity of DNA into perspective: “Imagine formatting every movie ever made into DNA; it would be smaller than the size of a sugar cube. And it would last for 10,000 years.”

Researchers at the University of Washington claim, “All the movies, images, emails and other digital data from more than 600 basic smartphones (10,000 gigabytes) can be stored in the faint pink smear of DNA at the end of this test tube.” (Photo and caption copyright: Tara Brown/University of Washington.)

Victor Zhirnov, Chief Scientist at Semiconductor Research Corporation says the worries over storage space aren’t simply theoretical. “Today’s technology is already close to the physical limits of scaling,” he told Wired, which stated, “Five years ago humans had produced 4.4 zettabytes of data; that’s set to explode to 160 zettabytes (each year!) by 2025. Current infrastructure can handle only a fraction of the coming data deluge, which is expected to consume all the world’s microchip-grade silicon by 2040.”

MIT Technology Review agrees, stating, “Humanity is creating information at an unprecedented rate—some 16 zettabytes every year. And this rate is increasing. Last year, the research group IDC calculated that we’ll be producing over 160 zettabytes every year by 2025.”

Heavy Investment by Major Players

The whole concept may seem like something out of a science fiction story, but the fact that businesses are investing real dollars into it is evidence that DNA for data storage will likely be a reality in the near future. Currently, there are a couple of barriers, but work is commencing to overcome them.

First, the cost of synthesizing DNA in a medical laboratory for the specific purpose of data storage must be cheaper for the solution to become viable. Second, the sequencing process to read the information must also become less expensive. And third is the problem of how to extract the data stored in the DNA.

In a paper published in ASPLOS ‘16, the MR/UW scientists wrote: “Today, neither the performance nor the cost of DNA synthesis and sequencing is viable for data storage purposes. However, they have historically seen exponential improvements. Their cost reductions and throughput improvements have been compared to Moore’s Law in Carlson’s Curves … Important biotechnology applications such as genomics and the development of smart drugs are expected to continue driving these improvements, eventually making data storage a viable application.”

Automation appears to be the final piece of the puzzle. Currently, too much human labor is necessary for DNA to be used efficiently as data storage.

 “Our ultimate goal is to put a system into production that, to the end user, looks very much like any other cloud storage service—bits are sent to a datacenter and stored there and then they just appear when the customer wants them,” said Microsoft principal researcher Karin Strauss (above), in the Microsoft news release. “To do that, we needed to prove that this is practical from an automation perspective.” Click here to watch a Microsoft Research video on the DNA storage process. (Photo copyright: Microsoft Research/YouTube.)

It may take some time before DNA becomes a viable medium for data storage. However, savvy pathology laboratory managers should be aware of, and possibly prepared for, this coming opportunity.

While it’s unlikely the average consumer will see much difference in how they save and retrieve data, medical laboratories with the ability to sequence DNA may find themselves very much in demand because of their expertise in sequencing DNA and interpreting gene sequences.

—Dava Stewart

Related Information:

With a “Hello,” Microsoft and UW Demonstrate First Fully Automated DNA Data Storage

Demonstration of End-to-End Automation of DNA Data Storage

UW Team Stores Digital Images in DNA—and Retrieves Them Perfectly

Microsoft and UW Demonstrate First Fully Automated DNA Data Storage

Storing Data in DNA Is A Lot Easier than Getting It Back Out

DNA Could Store All of the World’s Data in One Room

The Rise of DNA Data Storage

Forget Silicon—SQL On DNA Is the Next Frontier for Databases

Penn State University College of Medicine Pilot Study Finds MicroRNA in Saliva Can Be Used in Diagnosis and Treatment of Concussions in Children

Identifying patients who will likely develop prolonged concussion symptoms could lead to new clinical laboratory tests and personalized medicine treatments

Researchers are homing in on a new diagnostic assay for concussion that could potentially generate significant numbers of test referrals to the nation’s clinical laboratories. This innovative work is targeting how concussions are diagnosed and treated.

Each year, thousands of children receive sports-related injuries, including concussions. There are ways for anatomic pathologists and hospital medical laboratories to diagnose concussions; however, testing can be invasive and doesn’t always reveal a complete picture of the injury state.

Additionally, about one third of children with concussions develop prolonged symptoms. However, when prescribing treatment plans, physicians have been unable to predict which patients are likely to recover quickly versus those who will have a longer recovery.

Now, researchers at Penn State College of Medicine (Penn State) believe they have discovered five microRNAs in saliva that could be used to identify patients who will likely experience prolonged concussion symptoms even one month after the initial injury.

The study also found that certain materials in saliva can help diagnose the severity of concussions and could hold the key to more effective clinical laboratory tests and personalized medicine treatments.

The Penn State researchers published their study results in JAMA Pediatrics, a publication of the Journal of the American Medical Association (JAMA).

Concussion Leading Sports-related Brain Injury

There are approximately 3.8 million sports and recreation-related traumatic brain injuries in the United States each year and the majority of those cases are concussions, according to The Concussion Place. Most concussions treated in emergency rooms are due to falls, motor-vehicle related injuries, being struck by an object, assaults, or playing sports.

Also known as mild traumatic brain injuries (mTBI), concussions are caused by blows or jolts to the head or body that cause the brain to move with excessive force inside the skull. The sudden impact damages brain cells and causes chemical changes within the brain that alter normal functioning. Though usually not life threatening, the damage can be serious and linger for months.

Symptoms of concussion include: headaches, fatigue, nausea, vomiting, dizziness, balance problems, confusion, memory problems, sleep disturbances, and double or blurry vision. Symptoms usually occur immediately, but could take days or even weeks to appear.

Identifying Severity/Predicting Prolonged Symptoms of Traumatic Brain Injuries

After a concussion occurs, brain cells release small fragments of genetic material known as microRNAs while they attempt to repair themselves. A portion of these microRNAs appear in the injured person’s blood and saliva.

In order to determine whether these microRNAs could be used to determine the severity of a traumatic brain injury and predict whether prolonged symptoms would occur, the prospective cohort study researchers gathered saliva samples from 52 concussion patients between the ages of seven and 21:

  • The average age of the subjects was 14;
  • Twenty-two of the participants were female;
  • They were all athletes; and,
  • The majority of the samples were collected one to two weeks after the initial injury.

The researchers examined distinct microRNAs in the samples and identified some that enabled them to predict how long a patient’s concussion symptoms might last. In addition, they found one microRNA in children and young adults that accurately predicted which subjects would experience memory and problem-solving difficulties as part of their symptomatology.

The researchers also evaluated the concussion patients using the Sport Concussion Assessment Tool (SCAT-3), Third Edition. Physicians use this questionnaire to assess the symptoms and severity of concussions. The researchers also asked the parents of the concussed patients for observations about their children’s symptoms.

During follow up visits, which occurred at four- and eight-week increments following the original assessment, the Penn State researchers collected additional saliva samples and re-evaluated the patients using SCAT-3.

New Biomarkers Based on MicroRNAs Instead of Protein

“There’s been a big push recently to find more objective markers that a concussion has occurred, instead of relying simply on patient surveys,” Steven Hicks, MD, PhD, Assistant Professor of Pediatrics, Penn State College of Medicine, Hershey, Pa., one of the study researchers, told Penn State News.

“Previous research has focused on proteins, but this approach is limited because proteins have a hard time crossing the blood-brain barrier. What’s novel about this study is we looked at microRNAs instead of proteins, and we decided to look in saliva rather than blood,” he noted.

According to Steven Hicks, MD, PhD (above), who worked on the Penn State College of Medicine study, microRNAs could be more accurate than the traditional questionnaire when diagnosing and forecasting the effects of concussions. “The microRNAs were able to predict whether symptoms would last beyond four weeks with about 85% accuracy,” he told Penn State News. “In comparison, using the SCAT-3 report of symptoms alone is about 64% accurate. If you just go off the parent’s report of symptoms, it goes down to the mid-50s. In this pilot study, these molecular signatures are outperforming survey tools.” (Photo copyright: MD Magazine.)

The goal of this research was to develop a way to definitively ascertain that a concussion had occurred, predict the length and type of symptoms, and then use that data to improve and personalize care for children and young adults who have had a concussion.

“With that knowledge physicians could make more informed decisions about how long to hold a child out of sports, whether starting more aggressive medication regimens might be warranted, or whether involving a concussion specialist might be appropriate,” Hicks told MD Magazine. “Anytime we can use accurate, objective measures to guide medical care, I think that represents an opportunity to improve concussion treatment.”

Further research and clinical trials will be needed to solidify the effectiveness and accuracy of these new biomarkers. However, a rapid, non-invasive saliva test that can determine the severity of a concussion, and predicted whether prolonged symptoms will likely occur, would be widely used and could be an important assay for clinical laboratories. Particularly those associated with hospital medical laboratories and emergency rooms.

—JP Schlingman

Related Information:

Association of Salivary MicroRNA Changes with Prolonged Concussion Symptoms

Saliva Test May Detect Biomarker for Prolonged Concussion

Molecules in Spit May be Able to Diagnose and Predict Length of Concussions

Prolonged Concussion Symptoms Identifiable by Salivary MicroRNA

Spit Test May Help Reveal Concussion Severity

Saliva Test May Lead to Improved Concussion Care for Youths



New Regulations Have Been Imposed on Clinical Pathology Laboratories in Australia due to Concerns over Direct-to-Consumer Genetic Testing

Undergoing genetic testing also can impact the cost and availability of life insurance in Australia, not just for the person who underwent the testing, but for their families as well

Concerns about direct-to-consumer genetic testing have led to stricter regulatory requirements for Clinical laboratories that perform genetic tests in Australia.

Starting in July 2017, medical laboratories that perform genetic testing must have accreditation by the National Association of Testing Authorities (NATA). And their tests must meet performance standards established by the National Pathology Accreditation Advisory Council. Manufacturers must also obtain a conformity assessment certificate from the Therapeutic Goods Administration, the organization that regulates medical devices, medicines, blood, and tissue in Australia.

According to the Australian Law Reform Commission (ALRC), there are currently 220 deoxyribonucleic acid (DNA) diagnostic tests available in Australia. There are 44 different laboratories located throughout the country that perform those tests. A database of the available tests and labs is maintained by the Human Genetics Society of Australasia (HGSA).

However, Australian citizens are not limited to just the tests and labs listed by the HGSA. Direct-to-consumer genetic testing kits, which are marketed through retail outlets, mail order, and the Internet, also can be used to obtain genetic information. However, receipt of genetic test results can be problematic and have negative consequences, say some experts.

Genetic Tests Can Cause Confusion; Affect Insurance

A recent paper, authored by researchers at Monash University, outlined apprehension about home genetic testing and how it can have a negative impact on people’s lives and insurance rates. The authors claim the tests can be misleading, noting concerns that the results are often interpreted by people who lack proper training. They cautioned that providers in other countries are not subject to the strict laws that govern genetic testing in Australia. Monash University is Australia’s largest university with facilities and campuses in Australia, Malaysia, South Africa, China, India, and Italy.

“In the age of individuality and consumer empowerment, some people want to take things into their own hands, but that’s not without its risks,” stated Ken Harvey, MBBS (Bachelor of Medicine, Bachelor of Surgery), in a Special Broadcast Service (SBS) article. Dr. Harvey is an FRCPA (Pathologist) and Associate Professor in the Department of Epidemiology and Preventive Medicine at Monash University, and one of the authors of the paper. “If you’re getting something over the internet it can be really difficult to assess whether that test has been accredited by a reputable independent authority.”

DTC genetic test order increase

The chart above tracks the collective annual test volume of just three direct-to-consumer (DTC) providers of genetic test in the US. It illustrates the steep rise in DTC genetic test usage among US-based healthcare consumers. Clinical laboratories could chart a similar progression tracking the increase in DTC genetic testing they have performed in just the past few years. (Image copyright: University of Iowa Wiki.)

In addition, the results of home genetic tests have to be translated and explained to consumers by a medical professional, often a General Practitioner (GP), which, according to the Australian researchers, can lead to confusion.

“Though the results would go back to the GPs, many GPs really had no idea what to do with these results when they got them”, Harvey noted in the SBS article. “I’ve had GPs tell me one of their patients comes in clutching a handful of printouts about their genetic tests, and they say, ‘what am I meant to do with this?’”

Why Genetic Testing is Important

One person who understands the urge to try genetic testing is Heather Renton, Founder and President of Syndromes Without a Name (SWAN) Australia, a not-for-profit incorporated association and charity that works to increase awareness and understanding of the impact and prevalence of undiagnosed genetic conditions.

After being misdiagnosed multiple times, it was discovered that Renton’s daughter had the rare FOXP1 gene. Individuals with the FOXP1 genetic disorder have delayed speech and learning issues, sometimes with signs of autism. Symptoms of the condition include:

  • Speech and learning disabilities;
  • Immune system issues; and
  • Behavioral abnormalities.

“People are sometimes so desperate for answers, [but] who’s to know that it’s credible—you might think you’ve got this gene and it might turn out that you don’t,” Renton stated in the SBS article.

“You might have a gene susceptible to breast cancer the older you get, but as a 20-year-old you have no idea you’ve got that,” she continued. “Life’s a lottery game.”

Why Genetic Testing Can Cause Problems

Nevertheless, some individuals may not welcome the results that genetic testing could reveal.

“If you get one of these batteries of genetic tests, the implication is these are genetic conditions that can be inherited; the results are not just important or significant to you, but to your family members, your children, etc.,” Harvey stressed. “The implications go beyond a particular person—and not everyone wants to know.”

“For some families, it’s been life shattering to find out they’ve actually passed this condition on to their child, and they carry this guilt,” Renton added.

Genetic Test Results Can Affect Insurance Premiums/Availability

Results of genetic tests also could affect the costs and availability of life insurance policies in Australia that went into effect after July.

Under the Insurance Contracts Act, Australians applying for life insurance are required to disclose:

  • Their medical history;
  • Information about the health of first degree relatives (parents, siblings, and children); and
  • The known results of any genetic testing.

Life insurance policies in Australia are guaranteed renewable. This means consumers do not have to inform insurers of changes in their medical conditions after policies have been issued. It is forbidden for insurers to demand that consumers have any genetic testing performed. However, if a consumer has had a genetic test performed and knows the results before the policy is issued, those results must be divulged to the insurer. That information can then be used to determine policy rates or deny coverage.

Could This Happen In the US?

In the United States, some genetic testing is regulated by the Food and Drug Administration (FDA) under the processes that oversee medical devices. The FDA has proposed regulating laboratory-developed tests (LDTs), which would bring more genetic testing under the agency’s scrutiny. As direct-to-consumer genetic testing becomes more advanced and is marketed to the public, it is probable that regulatory oversight of labs performing these tests also will increase in an effort to protect the public. Thus, clinical laboratories and pathology groups are advised to monitor this situation in Australia.  Similar regulatory actions could be taken in the US as well.

—JP Schlingman

Related Information:

‘Not Everyone Wants to Know’: Warnings Over Genetic Tests

Warning Over Direct-to-Consumer Genetic Tests

Retail Genetics

Growth in DTC Genetic Testing

Thinking About Life Insurance Through a Genetic Lens

Life Insurance Products and Genetic Testing in Australia

British Health Authorities Criticize Medical Laboratory Tests for Consumers

Medical Laboratory Tests for Consumers Under Investigation on Two Continents

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