This article has been updated to note the latest status of this bill.
NEW YORK (GenomeWeb) – Two US Senators introduced a bipartisan legislation this week seeking to tighten protections for volunteers who contribute genetic and other identifiable information for research studies.
The Genetic Research Privacy Protection Act (S.2744), introduced by Senators Elizabeth Warren (D-MA) and Mike Enzi (R-WY) to the Committee on Health, Education, Labor, and Pensions, would ensure that researchers conducting federally funded studies cannot reveal genetic information that can identify individuals who donated their data. Yesterday, during a session of the HELP committee, legislators voted to attach S.2744 as an amendment to Senator Lamar Alexander's (R-Tenn.) "Advancing Precision Medicine Act of 2016."
According to experts GenomeWeb spoke to, Warren has been working on this legislative issue for several years. "People have been concerned about what happens if someone participates in research and a third party, knowing that the government collects the data and it is identifiable, [asks] for that data," said Jennifer Wagner, a lawyer specializing in genetics rights issues and a former congressional fellow for Senator Edward Markey (D-MA). "This has been a concern for researchers for a couple of years."
In a primer about the bill, Warren's office noted that federally held genetic data is usually stripped of identifiers, but that an individual whole-genome sequence is a unique identifier that "cannot be truly deidentified." One study in 2013 demonstrated it is possible to re-identify participants in NIH-funded sequencing projects from publicly available genetic and demographic information.
Since then, pioneers in the field of genomics have written about the need to "abandon the traditional concept of medical confidentiality" and begin to accept that there may not be a guarantee of anonymity when they share genomics information in research. However, it is also worth recognizing that as large-scale publicly funded projects, such as the Precision Medicine Initiative, invite all Americans to donate their data for research, not everyone may be willing to accept such risks without some additional privacy assurances.
Specifically, the Warren/Enzi bill would amend the Public Health Service Act, by restricting public disclosures for all identifiable information, specifically genetic data, from Freedom of Information Act requests. FOIA is a law that allows the public the right to request access to records held by the federal government.
"Identifiable, sensitive information protected [by the bill] shall be immune from the legal process, and shall not, without the consent of the individual to whom the information pertains, be admissible as evidence or used for any purpose in any action, suit, or other judicial, legislative, or administrative proceeding," according to the legislative language.
The act would require the NIH to issue certificates of confidentiality (CoCs) for all federally funded researchers collecting this type of information. The bill would still allow data sharing within research that abides by federal laws for protecting human subjects, and wouldn't restrict study participants' ability to access their own data collected within a research project.
Privately funded entities doing genetics research could also apply for CoCs from the government, according to the bill. This could provide some reassurance to customers of consumer-facing genetic testing firms, such as Ancestry.com and 23andMe.
Ancestry.com faced a media backlash last year when it revealed the identity of a donor in its database, because law enforcement authorities investigating a murder case served the firm with a warrant. The suspect wasn't arrested and ultimately, cleared of wrongdoing. However, Ancestry decided to close the database because it was used in a law enforcement case, rather than for genealogy.
Meanwhile, as of March 2016, 23andMe has received four requests from law enforcement agencies in the US related to five user accounts, but the company hasn't produced data for any of those requests. 23andMe's terms of service inform customers that the firm may be required to disclose customer data when served with subpoenas or warrants.
However, 23andMe also has a CoC from the NIH, which means that the firm can exclude information that customers share for research when there are external demands for data disclosures. More than 80 percent of the company's 1.2 million customers consent to participate in research.
Currently, genetic data gathered for research aren't typically protected under the Health Insurance Portability and Accountability Act, and court decisions also haven't been clear that this type of information is always private, according to Warren's office. Researchers have wondered how a court would rule if the government denied a FOIA request for genetic data collected as part of studies and a third party sued.
Legal clarity in this regard is necessary if studies like PMI are to succeed. Within the PMI, the NIH and other government agencies hope to advance understanding of the biological and environmental mechanisms of disease by collecting data from 1 million volunteers. In order to participate, volunteers will have to consent to share deidentified data from their electronic medical records, answer research questions, and submit biological samples for genomic and other types of analysis.
"It's a good thing for research participants to see these provisions coming up in a bill," said Wagner, who is the associate director of bioethics at Geisinger Health System. Geisinger has a CoC for its MyCode Community Health Initiative, which collects and stores blood and other samples from thousands of patients that researchers use to study the links between genes and diseases.
Ultimately though, Wagner and other experts believe what the public really needs are expanded legal protections against genetic discrimination. The Genetic Information Nondiscrimination Act (GINA), passed in 2008, restricts the use of genetic information in employment and health insurance, but it does not prohibit the use of such information in the context of long-term care, life insurance, or disability insurance.
Warren's office noted that the Genetic Research Privacy Protection Act builds on the protections provided by GINA. "Having increased privacy protections are great," Wagner said. "But we really need increased non-discrimination protections."
If there were such efforts underway, it would likely come from the office of Representative Louise Slaughter (D-NY) and the non-profit health advocacy organization Genetic Alliance, which pushed for the passage of GINA for more than a decade. "When we began to work on GINA we were heralding in an era — the genomic age — that has been served well by that act … after 12.5 years of hard work by many people," Genetic Alliance President Sharon Terry told GenomeWeb over email. "Now, genomics and genetics are ubiquitous in our lives and greater protections are needed. It will be difficult to expand GINA, but that time has come."
The healthcare technology company NextGxDx estimates that there are around 60,000 genetic testing products in the US market, and labs launch eight to 10 new products daily. More and more researchers are integrating genetic data into studies. Public concerns about privacy and discrimination related to genetic information could influence people’s decision to partake in research.
For example, within MedSeq, a randomized study investigating the impact of whole-genome sequencing, about a third of 500 people going through the consent process ultimately decided not to participate, citing a fear of insurance discrimination, psychosocial issues related to the results, and privacy concerns.
"If you think about the eight years since GINA passed, we're in a very different place," said Amy Miller, executive VP of the Personalized Medicine Coalition. "We know more now, and if we're going to provide genetic information to 1 million Americans [within the PMI], it may have an impact sooner than we thought."
Terry acknowledged that the "rancorous" environment on Capitol Hill in recent years has made it difficult to achieve any meaningful legislative action. "But one can hope that the fall elections might net us some effective and collaborative legislators," she said.