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Clinical Laboratories and Pathology Groups

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Consumers Buying Genealogy Gene Sequencing Tests in Record Numbers; Some Experts Concerned Data Could Be Misinterpreted

Genetic counselors struggle to explain direct-to-consumer genetic test data—or correct provider misinterpretations of results—while often encountering resistance and anger from patients who don’t accept their counseling

Healthcare consumers who want to know more about their family’s genealogy are purchasing direct-to-consumer (DTC) home genetic tests in record numbers. It is a trend that worries some medical laboratory professionals and certain federal government agencies.

MIT Technology Review (MIT) dubbed 2017, “The year consumer DNA testing blew up.” As a result of record-breaking sales of DTC genetic testing last year, about 12-million people have now been tested, MIT reported. “The inflection pointed started in the summer of 2016, and from there it’s gone into the stratosphere,” David Mittelman, PhD, Molecular Biophysics, told MIT.

Clearly, consumers are becoming comfortable with the concept of genetic testing on themselves and their family members. However, major issues—such as who owns genetic information and how patient privacy is protected—have yet to be resolved.

Dark Daily recently reported that more than 1.5 million kits were sold by during the four-day Black Friday/Cyber Monday weekend prior to Christmas 2017. That e-briefing also explored related privacy issues and informed readers about efforts by federal lawmakers to explore genetic testing companies’ privacy and disclosure practices.

According to a news release, by the end of November, sales of AncestryDNA kits exceeded the total number of subscribers the Utah-based company had when it started the year. Now, more than seven million people are in Ancestry’s database.

Meanwhile, 23andMe, a personal genomics company established in 2006, has genotyped more than three million people worldwide. In addition to an ancestry test, it offers a health and ancestry service providing information on genetic health risks, carrier status, traits, wellness, and ancestry, according to the company’s website.

Experts Concerned About Privacy and Use of ‘Raw’ DNA Data

“2018 will bring a regular drumbeat of new experiences and enhancements across both DNA and family history,” Howard Hochhauser, Ancestry’s Interim Chief Executive Officer, predicted in the news release.

However, a recent study published in Translational Behavioral Medicine (TBM) which noted the robust sales of DTC genetic tests in 2017, also called attention to a new concern surrounding the impact of “raw” DNA interpretation results.

“People often enter the direct-to-consumer market for recreational purposes, such as learning about their ancestry. Yet, what we started seeing was that these same individuals subsequently come across third-party interpretation services where they proceeded to learn more about their ‘raw’ DNA made available by the ancestry testing companies,” stated Catharine Wang, PhD, Boston University (BU) Associate Professor of Community Health Sciences, and the study’s lead author, in a BU statement.

The study cited sales of DTC genetic tests at $99 million in 2017 and explored potential negative implications of consumers’ access to “raw” DNA data.

“We were especially interested in the downstream implications of receiving unexpected disease risk information from these newer services that subsequently lead consumers to seek out a genetic counselor’s consult,” Wang noted.

Catharine Wang, PhD (above), Associate Professor of Community Health Sciences at Boston University and lead author of the study, notes, “There are a lot of people saying, ‘I’m smart enough to make decisions; give me the information and get the doctors out of the way. But they’re making some serious decisions about their health after seeing only part of the picture.” (Photo copyright: Boston University Research.)

After Getting DNA Data, Consumers Turn to Interpretation Services, Genetic Counselors

The research team surveyed 85 genetic counselors. Fifty-three percent of them reported meeting with DTC test costumers who had accessed ‘raw’ DNA data and used genetic interpretation companies, which are not regulated by the US Food and Drug Administration (FDA), to get more information about themselves. However, results of the sessions were not always positive for either patients or counselors.

According to the study, counselors reported their biggest challenge as “undoing misinterpretations and correcting patient beliefs about their raw DNA results.”

The study noted, “When genetic counselors tried to clarify misunderstandings, patients were not only resistant but sometimes appeared hurt and frustrated that counselors were not taking their results seriously.”

Other negative experiences counselors reported while interpreting “raw” DNA test results for patients include:

  • “Time required to review and understand interpretation reports;
  • “Feeling ill equipped and uncomfortable providing the service;
  • “A lack of supportive organizational structure; and,
  • “[Having to] correct a patient’s misunderstanding, following a primary care physician’s misinterpretation of her raw DNA results.”

“Counselors expressed concern about the quality of the raw data and the clarity and usefulness of interpretation reports. Efforts to better support both consumers and genetic service providers are needed to maximize the effective translation of genome-based knowledge for population health,” the study authors concluded.

Providers Should Improve Ability to Help Patients with DTC Genetic Data

In a MedCity News blog post, Peter Hulick, MD, Director of Personalized Medicine, NorthShore University HealthSystem, called for healthcare providers to assist patients who are dealing with new DTC genetic services and possible data overload.

“Findings show having widespread access to personal genetic information—without the knowledge of how to interpret results—can lead to problems ranging from misinterpretation to emotional distress,” he noted. “The medical community must work harder and smarter to incorporate this information into practice and empower patients as consumers and partners in healthcare decision-making.”

Anatomic pathologists and clinical laboratory leaders also should acknowledge and monitor consumers’ growing interest in these tests. Once patients’ have their DNA sequenced, the likelihood they will seek to know their predisposition to diseases is high and increasing. Thus, opportunities exist for medical laboratories to help physicians and consumers interpret DTC test results.

—Donna Marie Pocius

Related Information:

2017 Was the Year Consumer DNA Testing Blew Up

AncestryDNA Breaks Holiday Sales Record; Black Friday-Cyber Monday

At-Home Genetic Testing Leads to Misinterpretations of Results

The Impact of Raw DNA Availability and Corresponding Online Interpretation Services: A Mixed Methods Study

Consumer Interest in Genetic Testing is Exploding: Are Providers Ready?

Confronting Cancer

Sales of Direct-to-Consumer Clinical Laboratory Genetic Tests Soar, as Members of Congress Debate How Patient Data Should be Handled, Secured, and Kept Private

Sales of Direct-to-Consumer Clinical Laboratory Genetic Tests Soar, as Members of Congress Debate How Patient Data Should be Handled, Secured, and Kept Private

Direct-to-consumer (DTC) genetic testing has been much in the news of late and clinical laboratories, anatomic pathology groups, and biomedical researchers have a stake in how the controversy plays out.

While healthcare consumers seem enamored with the idea of investigating their genomic ancestry in growing numbers, the question of how the data is collected, secured, and distributed when and to whom, is under increased scrutiny by federal lawmakers, bioethicists, and research scientists.

However, should public demand for DTC testing find support in Congress, some lab companies offering direct-to-consumer genetic tests could find their primary source of revenue curtailed.

DTC Sales Skyrocket as FDA Authorizes Genetic Tests for Certain Chronic Diseases

Dark Daily reported last fall on one company that had its plans to distribute thousands of free genetic tests at a football game suspended due to privacy concerns. (See, “State and Federal Agencies Throw Yellow Flag Delaying Free Genetic Tests at NFL Games in Baltimore—Are Clinical Laboratories on Notice about Free Testing?” October 13, 2017.)

Nevertheless, consumer demand for DTC tests continues to rise. In a press release, Ancestry, a family genetic history and consumer genomics company, reported:

  • Record sales of AncestryDNA kits during the 2017 four-day Black Friday to Cyber Monday weekend, selling more than 1.5 million kits; and,
  • The 2017 sales were triple the amount of kits sold during the same period in 2016.

Possibly helping the sale of DTC genetic tests may be the US Food and Drug Administration (FDA) authorization last year of 23andMe’s Personal Genome Service Genetic Health Risk tests for 10 diseases or conditions, including:

Senator Calls for Investigation of DTC Genetic Test Company Use of Patient Data

These are impressive sales. However, medical professionals may wonder how so much genetic data can be kept private by the testing companies. And medical laboratory leaders are not the only ones asking about privacy and the use of genetic test results.

In a November press conference, Senate Minority Leader Chuck Schumer called on the Federal Trade Commission (FTC) to look into genetic testing companies’ privacy and disclosure practices, noted NBC News.

“What those companies can do with all that data—your most sensitive and deepest info, your genetics—is not clear, and in some cases not fair and not right,” stated Schumer.

Congress took action in 2008 by passing the Genetic Information and Nondiscrimination Act (GINA), which bans employers and insurers from making decisions about people based on genetic predispositions to disease.

However, lawmakers also recently introduced House Bill 1313, the Preserving Employee Wellness Programs Act. It reads, in part, “… the collection of information about the manifested disease or disorder of a family member shall not be considered an unlawful acquisition of genetic information with respect to another family as part of a workplace wellness program offered by an employer ….”

“We’re injecting terrible opportunities for discrimination in the workplace,” Robert Green, MD, Professor of Medicine (Genetics) at Harvard Medical School, told Gizmodo.

Robert C. Green, MD, MPH

Robert C. Green, MD, MPH (above), Professor of Medicine, Harvard Medical School; Associate Physician, Brigham and Women’s Hospital; Geneticist, Brigham and Women’s Hospital; and Director, Genomes2People Research Program at Brigham and Women’s Hospital, believes weak genetic privacy laws are inhibiting research and clinical care. “People decline genetic tests because of concerns over privacy and genetic discrimination, especially insurance discrimination,” he told Gizmodo. “This is stymying biomedical research and people’s access to healthcare.” (Photo copyright: Harvard Medical School.)

HIPAA Enables Selling of Anonymized Patient Genetic Data

Peter Pitts, former FDA Associate Commissioner, and President and Co-founder of the Center for Medicine in the Public Interest, a non-profit medical issues research group, blames the release of data by DTC genetic test companies on the Health Insurance Portability and Accountability Act (HIPAA), a law he says makes way for “anonymized” sale of patient data.

“The Portability Act was passed when genetic testing was just a distant dream on the horizon of personalized medicine,” Pitts wrote in a Forbes commentary. “But today that loophole has proven to be a cash cow. 23andMe has sold access to its database to at least 13 outside pharmaceutical firms … AncestryDNA recently announced a lucrative data-sharing partnership with the biotech company Calico.”

For its part, in an online privacy statement, 23andMe noted, “We will use your genetic information or self-reported information and share it with third parties for scientific research purposes only if you sign the appropriate consent document.”

Similarly, Ancestry points out in its posted privacy statement, “We share your genetic information with research partners only when you provide us with your express consent to do so through our informed consent to research.

Consumers Speak Out on Privacy; States Study Laws and Genetic Testing by Research Hospitals

How do consumers feel about the privacy of their genetic test data?  According to a news release, a survey by 23andMe found the following:

  • 80% of Americans are concerned about DNA testing privacy; however,
  • 88% have no awareness or understanding of what testing companies do to protect information; and,
  • 74% of people are, nonetheless, interested in genetic testing.

Meanwhile, as states promulgate various genetic privacy laws, a paper published at SSRN by researchers at the Massachusetts Institute of Technology (MIT) and the University of Virginia (UV) examined how different state laws affect patients’ decisions about having genetic testing performed at various research hospitals.

The MIT/UV study focused on genetic testing by research hospitals as opposed to the DTC genetic testing by private companies. The paper explained that states have one of three types of laws to protect patients’ privacy in genetic testing:

  • “Require the provider to notify the individual about potential privacy risks;
  • “Restrict discriminatory use of genetic data by employers or insurance companies; and,
  • “Limit redisclosure without consent.”

Findings, netted from more than 81,000 respondents, suggest:

  • When genetic data are explained in state laws as patient property, more tests are performed;
  • Conversely, state laws that focus on risk, and ask patients to consent to risk, lead to less people giving the go-ahead for genetic testing.

“We found a positive effect [on the number of tests] was an approach where you gave patients the potential to actually control their own data,” Catherine Tucker, PhD,  Distinguished Professor of Management at MIT and one of the study researchers, told MIT News.

Whether the provider of genetic tests is a private testing company or a research hospital’s clinical laboratory, privacy continues to be a concern, not just to physicians but to federal lawmakers as well. Nevertheless, healthcare consumers and patients who receive comprehensible information about how their genetic data may be used seem to be agreeable to it. At least for now, that is.

—Donna Marie Pocius

Related Information:

AncestryDNA Breaks Holiday Sales Record Black Friday to Cyber Monday

Senator Calls for More Scrutiny of Home DNA Test Industry

The Present and Future Asymmetry of Consumer Genetic Testing

Are Our Terrible Genetic Privacy Laws Hurting Science?

The Privacy Delusions of Genetic Testing

National Survey Shows Strong Interest in DNA Testing

Privacy Protection, Personalized Medicine, and Genetic Testing

How Privacy Policies Affect Genetic Testing

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

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

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

Despite blinding data and following protocols, a recent investigation in Bloomberg Businessweek shows that clinical laboratories can be at risk in deals with pharmaceutical and big data companies

While big data is transforming how healthcare is both researched and applied, it also offers opportunities for clinical laboratories to create additional revenue from the endless streams of data generated by diagnostic tests and genetic assays. However, these opportunities come at a cost.

Data mining and pharmaceutical companies are turning to medical laboratories for blinded data (patients’ names are removed) to aid in their research and marketing efforts. Although the data is blinded to adhere to consumer privacy protocols, a story on the biopharmaceutical company Alexion (NASDAQ:ALXN) in Bloomberg Businessweek shows how clinical laboratories may be at risk for civil and legal ramifications, as well as public relation concerns.

When Blinded Patient Data Is Not Blind

Despite requirements to anonymize medical data, the increased computing and data collection abilities of data mining companies make it possible to bridge gaps in information by collating multiple data sources. Companies then can make assumptions about the data with relative accuracy.

With Alexion’s drug Soliris, the blinded data was enough to locate healthcare professionals treating patients with paroxysmal nocturnal hemoglobinuria (PNH), a rare disease of the blood, and atypical hemolytic uremic syndrome (aHUS) a rare disease of the immune system.

Cover of the Bloomberg Businessweek issue containing the article on Pharmaceutical companies’ use of blinded patient data for marketing high-cost “orphan drugs” that were developed to treat just one specific rare disease. (Photo copyright: Bloomberg Businessweek.)

On the surface, this seems like an ideal example of how making clinical laboratory and pathology data available to companies can be beneficial to patients and a victory for healthcare.

However, the Bloomberg Businessweek article highlights a darker side of the issue, noting, “Alexion set out to persuade doctors to test more frequently for PNH and aHUS—and to find a way to glimpse these test results, which traditionally have been shared only among the patient, the doctor ordering the test, and the lab.”

Liability and Risk in Age of Big Data

By reaching out to doctors and encouraging them to route lab tests to preferred medical laboratories with which they allegedly had partnered, Alexion could collect information and compare it to their database to pinpoint opportunities to sell their orphan drug Soliris. An orphan drug contains a unique pharmaceutical agent that was developed to treat a specific rare disease.

Five clinical laboratory companies are named in the story. While these laboratories might have followed regulations and the partnerships might be legal, news stories such as these could result in public relations crises and damaged reputations.

According to the Bloomberg Businessweek article, Alexion is resolving legal or regulatory concerns in at least seven countries. Though there is no precedent for medical laboratories assuming liability or being implicated in the crimes of a company to which they sold blinded data, the possibility exists.

Increased Scrutiny as Privacy Becomes a Public Concern

Healthcare big data continues to unlock new opportunities and create new approaches in treating disease and improving health around the world. However, as the public gains awareness of how healthcare big data is collected, shared, and used, greater scrutiny of how the data is handled, and the parties involved, will likely follow.

Dark Daily reported on the balancing act faced by laboratories in a 2016 e-briefing titled, “Trading in Medical Data: Is this a Headache or an Opportunity for Pathologists and Clinical Laboratories?

That e-briefing cites a Scientific American article in which author Adam Tanner, a fellow at Harvard University’s Institute for Quantitative Social Science, states, “At present, the system is so opaque that many doctors, nurses, and patients are unaware that the information they record or divulge in an electronic health record, or the results from lab tests they request or consent to, may be anonymized and sold.”

In a similar story, Ancestry recently experienced how fast opinions can shift when certain online publications questioned the terms and conditions of the company’s AncestryDNA service. In a matter of days, the service went from an interesting example of consumer genomics to a trending topic on social media.

In the Slate article “Who Owns Your Genetic Data After a Home DNA Test?,” author Jacob Brogan notes, “Even if Ancestry maintains its current commitment to protecting its customers’ data, its willingness to profit from that information may raise red flags for the future of consumer genetic testing.”

While Ancestry might resolve its immediate troubles with an update to its terms of service governing how and when it sells the genetic information of its customers, the hit to the company’s reputation could continue to impact its business. This is something the five clinical lab companies affiliated with Alexion and named in the Bloomberg Businessweek story may be experiencing as well.

As competition increases and clinical laboratories work to cultivate and improve revenue streams and reduce costs, it remains important to stay ahead of trends—and public opinion—by choosing partnerships carefully and remaining transparent about how patient data is collected, shared or sold, and used.

—Jon Stone

Related Information:

When the Patient Is a Gold Mine: The Trouble With Rare-disease Drugs

Your Medical Data Is for Sale, and There’s Nothing You Can Do About It

How Data Brokers Make Money Off Your Medical Records

Who Owns Your Genetic Data After a Home DNA Test?