Genomic data-sharing is popular, but there are significant privacy concerns.
The Genetic Information Nondiscrimination Act (GINA) prevents health insurers and employers from using genetic information in discriminatory ways. There also are state laws protecting against genetic discrimination. “However, these laws are not comprehensive. Concerns about genetic privacy persist,” says Amy L. McGuire, JD, PhD, director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine in Houston.
Genetic testing performed by a healthcare provider or researcher at an academic medical center most likely will be secured as protected health information (PHI) under HIPAA. Research data also may be protected under a Certificate of Confidentiality from disclosure without consent.
“Yet there are concerns about breaches, especially given recent high-profile security breaches of other digital data platforms,” McGuire says.
Unanticipated uses of genetic information are a valid worry. Law enforcement has begun using direct-to-consumer genetic genealogy services to generate leads in criminal investigations. Agencies upload crime scene DNA and compare that information to the DNA of other database participants to identify potential genetic relatives (and, ultimately, the suspect).
“Although law enforcement is not using medical or research data for this purpose, it has raised some additional concerns about genetic privacy and unanticipated uses of shared genetic information,” McGuire says.
Decisions on participation in genetic research always involve a trade-off between concerns about privacy and perceived benefits to the individual and society. It is uncertain how exactly this information could be used in the future.
“Individuals and groups need to be able to trust the systems that are in place to secure their data and protect them against future harm,” McGuire says.
Making the system more trustworthy requires greater transparency, clear principles of accountability, and more comprehensive laws and regulations that protect against discriminatory uses of genetic information, according to McGuire. The results of a recent survey may reveal the work ahead. Investigators surveyed 36,268 people in 22 countries to learn about the public’s understanding of genomics and preferences about who can see this information.
“In general, publics [sic] across the world do not appear to be aware of, nor familiar with, the concepts of DNA, genetics, and genomics. Willingness to donate one’s DNA and health data for research is relatively low, and trust in the process of data’s being shared with multiple users (e.g., doctors, researchers, governments) is also low,” the authors wrote.1 “Participants were most willing to donate DNA or health information for research when the recipient was speciﬁed as a medical doctor and least willing to donate when the recipient was a for-proﬁt researcher. Those who were familiar with genetics and who were trusting of the users asking for data were more likely to be willing to donate. However, less than half of participants trusted more than one potential user of data, although this varied across countries.”
Researchers may reassure people that data are “de-identified.” It is questionable to what extent this really can be true. “DNA is an identifier. For example, it’s used to track down individuals who have committed crimes and to determine family relationships,” says Mary Anderlik Majumder, JD, PhD, a professor of medicine at Baylor’s Center for Medical Ethics and Health Policy.
It is questionable whether a DNA sequence, especially a whole exome or whole genome sequence, can be considered truly de-identified.
“Yet our whole regulatory framework for healthcare and biomedical research is built on the assumption that removing standard identifiers — names, addresses, significant dates, and so on — is sufficient to protect people’s privacy,” Majumder says.
A person with an elevated genetic risk of Alzheimer’s disease might not want that known to the world, especially insurers or employers. But that same person might want qualified researchers to have access to their genetic sequence if the research could lead to new approaches to prevention. “With advances in sequencing technology, it is becoming possible to extract more data from biospecimens,” Majumder adds. Other advances will make sense out of those data in terms of what it means for a person’s future health or life course. “The pitfall to guard against is genetic determinism. A lot of what we learn will be probabilistic and contingent,” Majumder explains.
Also unpredictable is what happens in the social and legal environment. “A ‘Gattaca’ scenario, where people find that their career and life prospects are limited based on sequence reads, is not just about technology. It’s also about the response to what the technology makes possible,” Majumder says.
Some informed consent form templates address the potential for things to change. “Generally, though, they describe the law in a static way,” Majumder reports.
For instance, researchers explain how GINA protects privacy and its limitations, without making clear that changes could occur. This could happen in either direction, with nondiscrimination and privacy laws strengthened or weakened. “However, that is asking a lot of the informed consent process, which is already pretty overloaded just trying to convey basic information of immediate and near-term significance,” Majumder observes.
People should not have to worry that the rules are going to change depending on who can access their genetic data in the future.
Still, says Majumder, “I wouldn’t advocate for lengthier descriptions of all the possible future scenarios, or an informed consent process that resembles a science fiction book club meeting.”
The emphasis should be on trustworthy approaches to data governance. People have a right to expect that health systems or researchers will care about their privacy, and will be held accountable to do what they can to protect it.2 “But there are limits,” Majumder adds. “Members of the public or patients should not imagine that health systems or researchers possess crystal balls.”
- Middleton A, Milne R, Almarri MA, et al. Global public perceptions of genomic data sharing: What shapes the willingness to donate DNA and health data? Am J Hum Genet 2020;107:743-752.
- Deverka PA, Gilmore D, Richmond J, et al. Hopeful and concerned: Public input on building a trustworthy medical information commons. J Law Med Ethics 2019;47:70-87.