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

May 10, 2019 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology

For blood brothers Quest and LabCorp this is good news, since the two medical laboratory companies perform most of the testing for the biggest DTC genetic test developers

Should clinical laboratories be concerned about direct-to-consumer (DTC) genetic tests? Despite alerts from healthcare organizations about the accuracy of DTC genetic testing—as well as calls from privacy organizations to give DTC customers more control over the use of their genetic data—millions of people have already taken DTC tests to learn about their genetic ancestry. And millions more are expected to send samples of their saliva to commercial DTC companies in the near future.

This growing demand for at-home DTC tests does not appear to be subsiding. And since most of the genetic testing is completed by the two largest lab companies—Quest Diagnostics (NYSE:DGX) and Laboratory Corporation of America (NYSE:LH)—other medical laboratories have yet to find their niche in the DTC industry.

Another factor is the recent FDA authorization allowing DTC company 23andme to report the results of its pharmacogenetic (PGx) test directly to customers without requiring a doctor’s order. For these reasons, this trend looks to be gaining momentum and support from federal governing organizations.

How will clinical pathology laboratories ultimately be impacted?

Data, Data, Where’s the Data?

Dark Daily has reported on DTC genetic testing for many years. According to MIT’s Technology Review, 26 million people—roughly 8% of the US population—have already taken at-home DNA tests. And that number is expected to balloon to more than 100 million in the next 24 months!

“The genetic genie is out of the bottle. And it’s not going back,” Technology Review reports.

The vast majority of the genetic information gathered goes into the databases of just four companies, with the top two—Ancestry and 23andMe—leading by a wide margin. The other two major players are FamilyTreeDNA and MyHeritage, however, Ancestry and 23andMe have heavily invested in online and television advertising, which is paying off.


In an op-ed response to a NYT editorial that warned readers to avoid 23andMe’s DTC genetic testing, 23andMe CEO and co-founder Anne Wojcicki (above) wrote, “We believe that consumers can learn about genetic information without the help of a medical professional, and we have the data to support that claim.” The FDA agreed and in February approved 23andMe to report pharmacogenetic test results directly to its customers. How this will play out for clinical laboratories remains to be seen. (Photo copyright: Inc.com.)

As more people add their data to a given database, the likelihood they will find connections within that database increases. This is called the Network Effect (aka, demand-side economies of scale) and social media platforms grow in a similar manner. Because Ancestry and 23andMe have massive databases, they have more information and can make more connections for their customers. This has made it increasingly difficult for other companies to compete.

Quest Diagnostics and LabCorp do the actual gene sequencing for the top players in the DTC genetic testing sector. The expected wave of new DTC genetic test costumers (74 million in the next 24 months) will certainly have a beneficial revenue impact on those two lab companies.

Why the Explosion in Genetic Testing by Consumers?

In 2013, just over 100,000 people took tests to have their DNA analyzed, mostly using Ancestry’s test, as Dark Daily reported. By 2017, that number had risen to around 12 million, and though Ancestry still had the majority market share, 23andMe was clearly becoming a force in the industry, noted Technology Review.

Given the reports of privacy concerns and the difficulty removing one’s genetic data from the Internet once it is online, why are people so eager to spit in those little tubes? There are several reported reasons, including:

And now there are several health-related reasons as well. For example, the study of pharmacogenetics has led clinicians to understand that certain genes reveal how our bodies process some medications. The FDA’s clearance allows 23andMe to directly inform customers about “genetic variants that may be associated with a patient’s ability to metabolize some medications to help inform discussions with a healthcare provider. The FDA is authorizing the test to detect 33 variants for multiple genes,” the FDA’s press release noted.

Controversy Over DTC Genetic Tests

The use of DTC genetic tests for healthcare purposes is not without scrutiny by regulatory agencies. The FDA removed 23andMe’s original health test from the market in 2013. According to Technology Review, the FDA’s letter was “one of the angriest ever sent to a private company” and said “that the company’s gene predictions were inaccurate and dangerous for those who might not fully understand the results.”

23andMe continues to refine its DTC tests. However, the debate continues. In February of this year, the New York Times (NYT) editorial board published an op-ed warning consumers to be wary of health tests offered by 23andMe, saying the tests “look for only a handful of [genetic] errors that may or may not elevate your risk of developing the disease in question. And they don’t factor into their final analysis other information, like family history.”

Anne Wojcicki, CEO and co-founder of 23andMe, responded with her own op-ed to the NYT, titled, “23andMe Responds: Empowering Consumers.” In her letter, Wojcicki contends that people should be empowered to take control of their own health, and that 23andMe allows them to do just that. “While 23andMe is not a diagnostic test for individuals with a strong family history of disease, it is a powerful and accurate screening tool that allows people to learn about themselves and some for the most common clinically useful genetic conditions,” she wrote.

Nevertheless, privacy concerns remain:

  • Who owns the results, the company or the consumer?
  • Who can access them?
  • What happens to them a year or five years after the test is taken?
  • When they are sold or used, are consumers informed?

Even as experts question the accuracy of DTC genetic testing in a healthcare context, and privacy concerns continue to grow, more people each year are ordering the tests. With predictions of 74 million more tests expected in the next 24 months, it’s certain that the medical laboratories that process those tests will benefit.

-Dava Stewart

Related Information:

More than 26 Million People Have Taken an At-Home Ancestry Test

How a DNA Testing Kit Revealed a Family Secret Hidden for 54 Years

23andMe Sells Data for Drug Search

Why You Should Be Careful About 23andMe’s Health Test

23andMe Responds: Empowering Consumers

Police Are Using Genetic Testing Companies to Track Down Criminals

The Problems with Ancestry DNA Analyses

FDA Authorizes 23andMe to Report Results of Direct-to-Consumer Pharmacogenetics Test to Customers without a Prescription, Bypassing Doctors and Clinical Laboratories

Erasing ‘DNA Footprint’ from the Internet Proves Difficult for Consumers Who Provide Data to Genetic Testing Companies

FDA Authorizes First Direct-To-Consumer Test for Detecting Genetic Variants That May Be Associated with Medication Metabolism

New Research Findings Determine that ‘Dark Matter’ DNA Does Useful Work and Opens Door to Develop More Sophisticated Clinical Pathology Laboratory Tests

Feb 26, 2014 | Digital Pathology, Instruments & Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology

Researchers at Penn State identified 160,000 ‘transcription initiation machines’ throughout the human genome

DNA “dark matter” may have something in common with comedian Rodney Dangerfield, who liked to say, “I don’t get no respect!” As many pathologists know, for years the human exome that has been the focus of most research. This is the 1% of the human genome that contains the genes that produce proteins and do other useful functions.

Meanwhile, the remaining 99% of the human genome—sometimes called “junk DNA” and generally known as dark matter—got relatively little attention from researchers. But that is changing. At Pennsylvania State University, a research team has discovered that coding and noncoding RNA, or genomic dark matter, originates at the same types of locations along the human genome.
(more…)

Tiny Faroe Islands to Begin Sequencing Genomes of All 50,000 Residents in Ambitious Effort to Advance Personalized Medicine

May 6, 2013 | Digital Pathology, Laboratory Management and Operations, Laboratory News, Laboratory Pathology

Because of isolation from the worldwide DNA pool for the past 1,200 years, Faroese population is vulnerable to recessive gene disorders

Because of the dramatic—and still falling—cost of DNA sequencing, an ambitious project is launching with the goal of sequencing the full DNA of all 50,000 residents of the Faroe Islands. When completed, this project has the potential to reshape molecular diagnostics and clinical laboratory testing.

FarGen is the name of this effort and pathologists and clinical laboratory managers will want to follow its progress. Organizers of this unique effort expect that it will speed up the use of personalized medicine in mainstream medicine. This tiny, self-governing Danish land, located between Iceland and Norway, is moving forward with plans to decipher complete DNA sequences for every one of its 50,000 citizens. (more…)

Federal Appeals Court Hears Arguments in the Myriad Genetics’ Gene Patent Case

Apr 22, 2011 | Laboratory Pathology, News From Dark Daily

At issue is ability of biotech companies to hold patents on genes that might be used in clinical laboratory testing

Patents involving human genes have always been controversial among pathologists and clinical laboratory managers. This is one reason why many in the medical laboratory testing industry are following the progress of the well-publicized lawsuit that challenged certain patents involving human genes that are held by Myriad Genetics, Inc. (Myriad), of Salt Lake City, Utah.

In the trial, which was conducted last year, a federal judge ruled against Myriad Genetics. The company filed an appeal and, on April 4th, the United States Court of Appeals for the Federal Circuit (Court of Appeals) heard oral arguments in the case of Association of Molecular Pathology (AMP) (plaintiffs) versus United States Patent and Trademark Office (USPTO) (defendants). This lawsuit was originally filed on March 29th, 2010, in the United States District Court Southern District of New York (District Court).
(more…)

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