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?