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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

Genomics experts say this is a sign that clinical laboratory genetics testing is maturing into a powerful tool for population health

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’ve compiled and aggregated.

Recent analysis of the sales of genetic tests from Ancestry and 23andMe show the market is definitely cooling, and the analysts speculate that—independent of the consequences of the COVID-19 pandemic on consumer behavior—the two clinical laboratory genetic testing companies may already have done testing for the majority of consumers who want to buy these tests.

“I think the consumer market is going to become more integrated into the healthcare experience,” Joe Grzymski, PhD, told GenomeWeb. “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.”

Grzymski is Chief Scientific Officer at Renown Health; Associate Research Professor of Computational Biology at Desert Research Institute, a research campus of the University of Nevada Reno; and Principal Investigator on a large population study called the Healthy Nevada Project.

Layoffs at Genomics Companies Come as No Surprise

In February, Ancestry, the largest company in the home DNA testing space, announced it was laying off 6% of its workforce or approximately 100 people, across different departments due to a decline in sales, CNBC reported. Several weeks earlier, 23andMe, the second largest company in this market, also announced it was laying off about 100 people or 14% of its workforce due to declining sales.

“I wasn’t surprised by the news,” said Linda Avey, a 23andMe co-founder who is now co-founder and Chief Executive Officer at Precisely Inc., a genomics company headquartered in San Francisco. She was commenting to GenomeWeb on the recent restructuring at her former company. “The level of expensive advertising has been insane here in the US. Those [customer acquisition costs] are not a sustainable model.”

CNBC surmised that the lull in at-home genetic testing is due mainly to:

  • A drought of early adopters. Individuals who were interested in the testing for genealogical and health reasons, and who believed in the value of the tests, have already purchased the product.
  • Privacy concerns. Some potential customers may have reservations about having their DNA information collected and stored in a database due to concerns about how that data is safeguarded and its potential uses by outside companies, law enforcement, and governments. 

COVID-19 May or May Not Be a Factor in Declining DNA Testing Sales

The COVID-19 pandemic may be playing a role in the decline in sales of at-home DNA testing kits. However, there are indications that the market was cooling before the virus occurred.

An article in MIT Technology Review reported that 26 million people had purchased at-home DNA testing kits by the beginning of 2019. The article also estimated that if the market continued at that pace, 100 million people were expected to purchase the tests by the end of 2020.

However, data released by research firm Second Measure, a company that analyzes credit and debit card purchases, may show a different story, reported Vox. The data showed a general decline in test kit sales in 2019. Ancestry’s sales were down 38% and 23andMe’s sales were down 54% in November 2019 compared to November 2018. The downward trend continued in December with Ancestry sales declining 15% and 23andMe sales declining 48% when compared to December 2018.

Second Measure, however, compiled data from the two companies’ websites only. They did not include testing kits that may have been purchased through other sources such as Amazon, or at brick and mortar locations.

Nevertheless, the measures being taken by genomics companies to shore up their market indicates the Second Measure data is accurate or very close.

Rise of Population-level Genomics

This decline in genealogical sales seems to be behind DNA-testing companies shifting focus to the healthcare aspects of consumer genomics. Companies like 23andMe and Ancestry are looking into developing health reports based on their customers’ data that can ascertain an individual’s risk for certain health conditions, or how they may react to prescription medications.

Othman Laraki, co-founder and CEO of Color Genomics
“We are seeing the next wave of maturity of the genetics market,” Othman Laraki, co-founder and CEO of Color Genomics, told CNBC. “If expensive diagnostic testing was genomics’ equivalent of mainframe computers, direct to consumer ancestry genetics was the hobbyist use. While the early adopter wave is petering out, we are seeing the real market (the equivalent of a PC in every home and a phone in every pocket), which is population-level use of genetics, taking hold.” (Photo copyright: San Francisco Business Times.)

For some genomics companies like 23andMe, the at-home DNA testing market was never specifically about selling testing kits. Rather, these companies envisioned a market where consumers would pay to have their DNA analyzed to obtain data on their ancestry and health, and in turn the testing companies would sell the aggregated consumer data to other organizations, such as pharmaceutical companies. 

“Remember that 23andMe was never in the consumer genomics business, they were in the data aggregation business,” Spencer Wells, PhD, founder and Executive Director of the Insitome Institute, a US-based 501(c)3 nonprofit think tank focused on key areas in the field of personal genomics, told GenomeWeb. “They created a database that should in principle allow them to do what they promised, which is to improve people’s health through genomic testing.” 

Even with clinical laboratory testing currently focused on COVID-19 testing, there remains an opportunity to sequence large numbers of people through at-home DNA testing and then incorporate those findings into the practice of medicine. The hope is that sales will again accelerate once consumers feel there is a compelling need for the tests.

Pathologists and clinical laboratory managers will want to watch to see if the companies that grew big by selling ancestry and genealogy tests to consumers will start to send sales reps into physicians’ offices to offer genetic tests that would be useful in diagnosing and treating patients.

—JP Schlingman

Related Information:

As Consumer Genomics Market Cools, Providers Ponder Better Ways to Reach Customers

Consumer DNA Testing Has Hit a Lull—Here’s How It Could Capture the Next Wave of Users

Layoffs at Genetic Testing Companies Reflect the Changing Market

Why DNA Tests are Suddenly Unpopular

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

Ancestry to Lay Off 6% of Workforce Because of a Slowdown in the Consumer DNA-Testing Market

AdventHealth Gives 10,000 Floridians Free Genetic Tests, Sees Genomics as the Future of Precision Medicine

Many other healthcare systems also are partnering with private genetic testing companies to pursue research that drive precision medicine goals

It is certainly unusual when a major health network announces that it will give away free genetic tests to 10,000 of its patients as a way to lay the foundation to expand clinical services involving precision medicine. However, pathologists and clinical laboratory managers should consider this free genetic testing program to be the latest marketplace sign that acceptance of genetic medicine continues to move ahead.

Notably, it is community hospitals that are launching this new program linked to clinical laboratory research that uses genetic tests for specific, treatable conditions. The purpose of such genetic research is to identify patients who would benefit from test results that identify the best therapies for their specific conditions, a core goal of precision medicine.

The health system is AdventHealth of Orlando, Fla., which teamed up with Helix, a personal genomics company in San Mateo, Calif., to offer free DNA sequencing to 10,000 Floridians through its new AdventHealth Genomics and Personalized Health Program. A company news release states this is the “first large-scale DNA study in Florida,” and that it “aims to unlock the secret to a healthier life.”

The “WholeMe” genomic population health study screens people for familial hypercholesterolemia  (FH), a genetic disorder that can lead to high cholesterol and heart attacks in young adults if not identified and treated, according to the news release.

Clinical laboratory leaders will be interested in this initiative, as well other partnerships between healthcare systems and private genetic testing companies aimed at identifying and enrolling patients in research studies for disease treatment protocols and therapies. 

The Future of Precision Medicine

Modern Healthcare reported that data from the WholeMe DNA study, which was funded through donations to the AdventHealth Foundation, also will be used by the healthcare network for research beyond FH, as AdventHealth develops its genomics services. The project’s cost is estimated to reach $2 million.

“Genomics is the future of medicine, and the field is rapidly evolving. As we began our internal discussions about genomics and how to best incorporate it at AdventHealth, we knew research would play a strong role,” Wes Walker MD, Director, Genomics and Personalized Health, and Associate CMIO at AdventHealth, told Becker’s Hospital Review.

“We decided to focus on familial hypercholesterolemia screening initially because it’s a condition that is associated with life-threatening cardiovascular events,” he continued. “FH is treatable once identified and finding those who have the condition can lead to identifying other family members who are subsequently identified who never knew they had the disease.”

The AdventHealth Orlando website states that participants in the WholeMe study receive information stored in a confidential data repository that meets HIPAA security standards. The data covers ancestry and 22 other genetic traits, such as:

  • Asparagus Odor Detection
  • Bitter Taste
  • Caffeine Metabolism
  • Cilantro Taste Aversion
  • Circadian Rhythm
  • Coffee Consumption
  • Delayed Sleep
  • Earwax Type
  • Endurance vs Power
  • Exercise Impact on Weight
  • Eye Color
  • Freckling
  • Hair Curl and Texture
  • Hand Grip Strength
  • Height
  • Lactose Tolerance
  • Sleep Duration
  • Sleep Movement
  • Sleeplessness
  • Sweet Tooth
  • Tan vs. Sunburn
  • Waist Size

Those who test positive for a disease-causing FH variant will be referred by AdventHealth for medical laboratory blood testing, genetic counseling, and a cardiologist visit, reported the Ormond Beach Observer.

One in 250 people have FH, and 90% of them are undiagnosed, according to the FH Foundation, which also noted that children have a 50% chance of inheriting FH from parents with the condition.

AdventHealth plans to expand the free testing beyond central Florida to its 46 other hospitals located in nine states, Modern Healthcare noted.

Other Genetics Data Company/Healthcare Provider Partnerships

In Nevada, Helix partnered with the Renown Health Institute for Health Innovation (IHI) and the Desert Research Institute (DRI) to sequence 30,000 people for FH as part of the state’s Healthy Nevada Project (HNP).

Helix (above) is one of the world’s largest CLIA-certified, CAP-accredited next-generation sequencing labs. The partnership with AdventHealth offered study participants Exome+: a panel-grade medical exome enhanced by more than 300,000 informative non-coding regions; a co-branded ancestry + traits DNA product for all participants; secure storage of genomic data for the lifetime of the participant; infrastructure and data to facilitate research; and in-house clinical and scientific expertise, according to Helix’s website. (Photo copyright: Orlando Sentinel.)

Business Insider noted that Helix has focused on clinical partnerships for about a year and seems to be filling a niche in the genetic testing market.

“Helix is able to sidestep the costs of direct-to-consumer marketing and clinical test development, while still expanding its customer base through predefined hospital networks. And the company is in a prime position to capitalize on providers’ interest in population health management,” Business Insider reported.

Another genomics company, Color of Burlingame, Calif., also has population genomics programs with healthcare networks, including NorthShore University Health System in Ill.; Ochsner Health System in La.; and Jefferson Health in Philadelphia.

Ochsner’s program is the first “fully digital population health program” aimed at including clinical genomics data in primary care in an effort to affect patients’ health, FierceHealthcare reported.

In a statement, Ochsner noted that its innovationOchsner (iO) program screens selected patients for:

  • Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2 genes;
  • Lynch syndrome, associated with colorectal and other cancers; and
  • FH.

Color also offers genetic testing and whole genome sequencing services to NorthShore’s DNA10K program, which plans to test 10,000 patients for risk for hereditary cancers and heart diseases, according to news release.

And, Jefferson Health offered Color’s genetic testing to the healthcare system’s 33,000 employees, 10,000 of which signed up to learn their health risks as well as ancestry, a Color blog post states.

Conversely, Dark Daily recently reported on two Boston healthcare systems that started their own preventative gene sequencing clinics. The programs are operated by Brigham and Women’s Hospital and Massachusetts General Hospital (MGH).

And a Precision Medicine Institute e-briefing reported on Geisinger Health and Sanford Health’s move to offer genetic tests and precision medicine services in primary care clinics.

“Understanding the genome warning signals of every patient will be an essential part of wellness planning and health management,” said Geisinger Chief Executive Officer David Feinberg, MD, when he announced the new initiative at the HLTH (Health) Conference in Las Vegas. “Geisinger patients will be able to work with their family physician to modify their lifestyle and minimize risks that may be revealed,” he explained. “This forecasting will allow us to provide truly anticipatory healthcare instead of the responsive sick care that has long been the industry default across the nation.”

It will be interesting to see how and if genetic tests—free or otherwise—will advance precision medicine goals and population health treatments. It’s important for medical laboratory leaders to be involved in health network agreements with genetic testing companies. And clinical laboratories should be informed whenever private companies share their test results data with patients and primary care providers. 

—Donna Marie Pocius

Related Information:

It May Be Your DNA: First Large-Scale DNA Study in Florida Aims to Unlock the Secret to a Healthier Life

AdventHealth Offers Free DNA Tests to 10,000 Floridians

How AdventHealth Orlando is Building a Future in Genomics

Helix Partners with AdventHealth to Offer 10,000 Genetic Screenings in Florida

AdventHealth to Launch Large Genetic Study for High Cholesterol

Ochsner Health System Teaming Up with Genetic Testing Company Color in Population Genomics

The Healthy Nevada Project: from Recruitment to Real-World Impact

Ochsner Health System to Pilot Genetic Screening Program in Partnership with Color

North Shore and Color Unlock the Power of Genomics in Routine Care

Jefferson Heath and Color Advancing Precision Health Through Clinical Genomics and Richer Data

Two Boston Health Systems Enter the Growing Direct-to-Consumer Gene Sequencing Market by Opening Preventative Genomics Clinics, But Can Patients Afford the Service

Geisinger Health and Sanford Health Ready to Offer Genetic Tests and Precision Medicine Services in Primary Care Clinics

Proteomics May Hold Key to Understanding Aging’s Role in Chronic Diseases and Be Useful as a Clinical Laboratory Test for Age-related Diseases

Researchers are discovering it’s possible to determine a person’s age based on the amount of protein in the blood, but the technology isn’t always correct

Mass spectrometry is increasingly finding its way into clinical laboratories and with it—proteomics—the study of proteins in the human body. And like the human genome, scientists are discovering that protein plays an integral part in the aging process.

This is a most interesting research finding. Might medical laboratories someday use proteomic biomarkers to help physicians gauge the aging progression in patients? Might this diagnostic capability give pathologists and laboratory leaders a new product line for direct-to-consumer testing that would be a cash-paying, fast-growing, profitable clinical laboratory testing service? If so, proteomics could be a boon to clinical laboratories worldwide.

When research into genomics was brand-new, virtually no one imagined that someday the direct-to-consumer lab testing model would offer genetic testing to the public and create a huge stream of revenue for clinical laboratories that process genetic tests. Now, research into protein and aging might point to a similar possibility for proteomics.

For example, through proteomics, researchers led by Benoit Lehallier, PhD, Biostatistician, Instructor of Neurology and Neurological Sciences, and senior author Tony Wyss-Coray, PhD, Professor of Neurology and Neurological Sciences and co-director of the Stanford Alzheimer’s Disease Research Center at Stanford University in California, gained an understanding of aging that suggest intriguing possibilities for clinical laboratories.

In their study, published in Nature, titled, “Undulating Changes in Human Plasma Proteome Profiles Across the Lifespan,” the scientists stated that aging doesn’t happen in a consistent process over time, reported Science Alert.  

The Stanford researchers also found that they can accurately determine a person’s age based on the levels of certain proteins in his or her blood.

Additionally, the study of proteomics may finally explain why blood from young people can have a rejuvenating effect on elderly people’s brains, noted Scientific American.

Each of these findings is important on its own, but taken together, they may have interesting implications for pathologists who follow the research. And medical laboratory leaders may find opportunities in mass spectrometry in the near future, rather than decades from now.

Three Distinct Stages in Aging and Other Findings

The Stanford study found that aging appears to happen at three distinct points in a person’s life—around the ages 34, 60, and 78—rather than being a slow, steady process.

The researchers measured and compared levels of nearly 3,000 specific proteins in blood plasma taken from healthy people between the ages of 18 and 95 years. In the published study, the authors wrote, “This new approach to the study of aging led to the identification of unexpected signatures and pathways that might offer potential targets for age-related diseases.”

Along with the findings regarding the timeline for aging, the researchers found that about two-thirds of the proteins that change with age differ significantly between men and women. “This supports the idea that men and women age differently and highlights the need to include both sexes in clinical studies for a wide range of diseases,” noted a National Institutes of Health (NIH) report.

“We’ve known for a long time that measuring certain proteins in the blood can give you information about a person’s health status—lipoproteins for cardiovascular health, for example,” stated Wyss-Coray in the NIH report. “But it hasn’t been appreciated that so many different proteins’ levels—roughly a third of all the ones we looked at—change markedly with advancing age.”

Tony Wyss-Coray, PhD (above), Professor of Neurology and Neurological Sciences at Stanford University, was senior author of the proteomics study that analyzed blood plasma from 4,263 people between the ages 18-95. “Proteins are the workhorses of the body’s constituent cells, and when their relative levels undergo substantial changes, it means you’ve changed, too,” he said in a Stanford Medicine news article. “Looking at thousands of them in plasma gives you a snapshot of what’s going on throughout the body.” (Photo copyright: Stanford University.)

Differentiating Aging from Disease

Previous research studies also found it is indeed possible to measure a person’s age from his or her “proteomic signature.”

Toshiko Tanaka, PhD, Research Associate with the Longitudinal Study Section, Translational Gerontology Branch, National Institute of Aging (NIG), National Institute of Health (NIH), Baltimore, led a study into proteomics which concluded that more than 200 proteins are associated with age.

The researchers published their findings in Aging Cell, a peer-reviewed open-access journal of the Anatomical Society in the UK, titled, “Plasma Proteomic Signature of Age in Healthy Humans.” In it, the authors wrote, “Our results suggest that there are stereotypical biological changes that occur with aging that are reflected by circulating proteins.”

The fact that chronological age can be determined through a person’s proteomic signature suggests researchers could separate aging from various diseases. “Older age is the main risk factor for a myriad of chronic diseases, and it is invariably associated with progressive loss of function in multiple physiological systems,” wrote the researchers, adding, “A challenge in the field is the need to differentiate between aging and diseases.”

Can Proteins Cause Aging?

Additionally, the Stanford study found that changes in protein levels might not simply be a characteristic of aging, but may actually cause it, a Stanford Medicine news article notes.

“Changes in the levels of numerous proteins that migrate from the body’s tissues into circulating blood not only characterize, but quite possibly cause, the phenomenon of aging,” Wyss-Coray said.

Can Proteins Accurately Predict Age? Not Always

There were, however, some instances where the protein levels inaccurately predicted a person’s age. Some of the samples the Stanford researchers used were from the LonGenity research study conducted by the Albert Einstein College of Medicine, which investigated “why some people enjoy extremely long life spans, with physical health and brain function far better than expected in the 9th and 10th decades of life,” the study’s website notes.

That study included a group of exceptionally long-lived Ashkenazi Jews, who have a “genetic proclivity toward exceptionally good health in what for most of us is advanced old age,” according to the Stanford Medicine news article.

“We had data on hand-grip strength and cognitive function for that group of people. Those with stronger hand grips and better measured cognition were estimated by our plasma-protein clock to be younger than they actually were,” said Wyss-Coray. So, physical condition is a factor in proteomics’ ability to accurately prediction age.

Although understanding the connections between protein in the blood, aging, and disease is in early stages, it is clear additional research is warranted. Not too long ago the idea of consumers having their DNA sequenced from a home kit for fun seemed like fantasy.

However, after multiple FDA approvals, and the success of companies like Ancestry, 23andMe, and the clinical laboratories that serve them, the possibility that proteomics might go the same route does not seem so far-fetched.

—Dava Stewart

Related Information:

Our Bodies Age in Three Distinct Shifts, According to More than 4,000 Blood Tests

Fountain of Youth? Young Blood Infusions ‘Rejuvenate’ Old Mice

Undulating Changes in Human Plasma Proteome Profiles Across the Lifespan

Blood Protein Signatures Change Across Lifespan

Plasma Proteomic Signature of Age in Healthy Humans

Stanford Scientists Reliably Predict People’s Age by Measuring Proteins in Blood

Advancements That Could Bring Proteomics and Mass Spectrometry to Clinical Laboratories

Might Proteomics Challenge the Cult of DNA-centricity? Some Clinical Laboratory Diagnostic Developers See Opportunity in Protein-Centered Diagnostics

Two Boston Health Systems Enter the Growing Direct-to-Consumer Gene Sequencing Market by Opening Preventative Genomics Clinics, but Can Patients Afford the Service?

By offering DTC preventative gene sequencing, hospital leaders hope to help physicians better predict cancer risk and provide more accurate diagnoses

Two Boston health systems, Brigham and Women’s Hospital and Massachusetts General Hospital (MGH), are the latest to open preventative gene sequencing clinics and compete with consumer gene sequencing companies, such as 23andMe and Ancestry, as well as with other hospital systems that already provide similar services.

This may provide opportunities for clinical laboratories. However, some experts are concerned that genetic sequencing may not be equally available to patients of all socioeconomic classes. Nor is it clear how health systems plan to pay for the equipment and services, since health insurance companies continue to deny coverage for “elective” gene sequencing, or when there is not a “clear medical reason for it, such as for people with a long family history of cancer,” notes STAT.

Therefore, not everyone is convinced of the value of gene sequencing to either patients or hospitals, even though advocates tout gene sequencing as a key element of precision medicine.

Is Preventative Genetic Sequencing Ready for the Masses?

Brigham’s Preventive Genomics Clinic offers comprehensive DNA sequencing, interpretation, and risk reporting to both adults and children. And MGH “plans to launch its own clinic for adults that will offer elective sequencing at a similar price range as the Brigham,” STAT reported.

The Brigham and MGH already offer similar gene sequencing services as other large health systems, such as Mayo Clinic and University of California San Francisco (UCSF), which are primarily used for research and cancer diagnoses and range in price depending on the depth of the scan, interpretation of the results, and storage options.

However, some experts question whether offering the technology to consumers for preventative purposes will benefit anyone other than a small percentage of patients.

“It’s clearly not been demonstrated to be cost-effective to promote this on a societal basis,” Robert Green, MD, MPH, medical geneticist at Brigham and Women’s Hospital, and professor of genetics at Harvard, told STAT. “The question that’s hard to answer is whether there are long-term benefits that justify those healthcare costs—whether the sequencing itself, the physician visit, and any downstream testing that’s stimulated will be justified by the situations where you can find and prevent disease.”

Additionally, large medical centers typically charge more for genomic scans than consumer companies such as 23andMe and Ancestry. Hospital-based sequencing may be out of the reach of many consumers, and this concerns some experts.

“The idea that genomic sequencing is only going to be accessible by wealthy, well-educated patrons who can pay out of pocket is anathema to the goals of the publicly funded Human Genome Project,” Jonathan Berg, MD, PhD, Genetics Professor, University of North Carolina at Chapel Hill, told Scientific American.

Nevertheless, consumer interest in preventative genetic sequencing is increasing and large health systems want a piece of the market. At the same time, genetics companies are reducing their costs and passing that reduction on to their customers. (See Dark Daily, “Veritas Genetics Drops Its Price for Clinical-Grade Whole-Genome Sequencing to $599, as Gene Sequencing Costs Continue to Fall,” October 23, 2018.)

Providers Go Direct to Consumers with Gene Sequencing

Healthcare providers and clinical laboratories played an important part in the growth of the Direct-to-Consumer (DTC) genetic testing, a market which the American Hospital Association (AHA) predicts is on track to expand dramatically over the next decade. BIS Research foresees a $6.3 billion valuation of the DTC genetic test market by 2028, according to a news release.

And, according to the American Journal of Managed Care, “It’s estimated that by 2021, 100 million people will have used a direct-to-consumer (DTC) genetic test. As these tests continue to gain popularity, there is a need for educating consumers on their DTC testing results and validating these results with confirmatory testing in a medical-grade laboratory.”

This is why it’s critical that clinical laboratories and anatomic pathology groups have a genetic testing and gene sequencing strategy, as Dark Daily reported.

David Bick, MD, Chief Medical Officer at the HudsonAlpha Institute for Biotechnology and Medical Director of the Smith Family Clinic for Genomic Medicine, told Scientific American, “there’s just more and more interest from patients and families not only because of 23andMe and the like, but because there’s just this understanding that if you can find out information about your health before you become sick, then really our opportunity as physicians to do something to help you is much greater.”

In an article he penned for Medium, Robert Green, MD, MPH (shown above counseling a patient), medical geneticist at Brigham and Women’s Hospital and professor of genetics at Harvard, wrote, “The ultimate aim of our Genomes2People Research Program is to contribute to the transformation of medicine from reactive to proactive, from treatment-oriented to preventive. We are trying to help build the evidence base that will justify societal decision to make these technologies and services accessible to anyone who wants them, regardless of means, education or race and ethnicity.” (Photo copyright: Wall Street Journal.)

Is Preventative Genomics Elitist?

As large medical centers penetrate the consumer genetic testing market some experts express concerns. In a paper he wrote for Medium, titled, “Is Preventive Genomics Elitist?” Green asked, “Is a service like this further widening the inequities in our healthcare system?”

Green reported that while building the Preventive Genomics Clinic at Brigham, “we … struggled with the reality that there is no health insurance coverage for preventive genomic testing, and our patients must therefore pay out of pocket. This is a troubling feature for a clinic at Brigham and Women’s Hospital, which is known for its ties to communities in Boston with diverse ethnic and socioeconomic backgrounds.”

Most of Brigham’s early genetics patients would likely be “well-off, well-educated, and largely white,” Green wrote. “This represents the profile of typical early adopters in genetic medicine, and in technology writ large. It does not, however, represent the Clinic’s ultimate target audience.”

More Data for Clinical Laboratories

Nevertheless, preventive genomics programs offered by large health systems will likely grow as primary care doctors and others see evidence of value.

Therefore, medical laboratories that process genetic sequencing data may soon be working with growing data sets as more people reach out to healthcare systems for comprehensive DNA sequencing and reporting.

—Donna Marie Pocius

Related Information:

Top U.S. Medical Centers Roll Out DNA Sequencing Clinics for Healthy Clients

Brigham and Women’s Hospital Opens Preventive Genomics Clinic

Preventive Genomics for Healthy People

Consumers Buy into Genetic Testing Kits

Direct-to-Consumer Genetic Testing Market to Reach $6.36 Billion by 2028

Is Preventive Genomics Elitist?

Why It’s Time for All Clinical Laboratories and Anatomic Pathology Groups to Have a Genetic Testing and Gene Sequencing Strategy

More Clinical Laboratories and Genetic Testing Companies Are Sharing Gene Sequencing Data That Involve Variations

Veritas Genetics Drops Its Price for Clinical-Grade Whole-Genome Sequencing to $599, as Gene Sequencing Costs Continue to Fall

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

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

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