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Genomics Needs Informed Consent Overhaul, European Researchers Say

NEW YORK (GenomeWeb News) – Genomic research presents a range of issues that challenge the effectiveness of existing informed consent guidelines, a new paper argues.
In an essay appearing online today in PLoS Medicine, European researchers from a variety of disciplines came together to voice their concerns over informed consent in genomics research. They argued that such research requires a new way of thinking about consent and suggested that genomics studies need ongoing informed consent protocols to ensure that participants understand how their genetic information is used and to minimize participant risk.
“Genetic information may hold a lot of unexpected things,” senior author Matthias Wjst, a researcher affiliated with the German Research Center for Environmental Health and the EURAC’s Institute of Genetic Medicine in Italy, told GenomeWeb Daily News. “It may really influence your life and this is a completely different kind of risk” than typical clinical trials, he said.
Under traditional informed consent protocols, researchers must provide participating individuals or communities with clear information about research protocol, goals, and outcomes, along with the potential risks and benefits associated with the research. This is intended to maintain consent cornerstones such as patient/participant autonomy, beneficence, and non-malfeasance.
But while these guidelines may be adequate for most clinical trials, they may not realistically address issues related to genomic studies, Wjst said. Since frozen DNA samples or data can be accessed to generate new data — or new interpretations of the data — for years after a sample is taken, it is sometimes difficult to determine how a sample will be used at the outset of a genomics study.
In addition, many, many different tests can be done on trace amounts of DNA, Wjst said. Whereas subjects were once asked to give permission for individual genetic tests focused on a small region of their genome, he added, researchers can now use microarrays and other new technology to look at hundreds of thousands of regions of the genome in the span of hours and without subjects’ knowledge.
And in the fast-moving genomics field, the authors argued, there’s no way of knowing what information it will be possible to glean from genetic samples and data in the future. Because genetic data “are intrinsically self-identifying,” the authors pointed, it is also difficult to ensure participants’ privacy, making the risks and benefits of genomic research hazy at best.
For instance, in clinical trials for a new drug, there may be a small risk of adverse reactions or death, Wjst said. In contrast, participating in genomic research will not harm you physically, but it could potentially expose you to other risks.
“The classical risk/benefit analysis of physical harm doesn’t take into account new threats to the individual such as uninsurability, unemployability, genetic discrimination, or disruption of family relationships,” the authors wrote.
Wjst argued that an individual is participating in genomics research as long as researchers have access to that individual’s DNA. Consequently, he and his colleagues suggest that informed consent in genomics research should not be a one-off affair. Rather, they say, it should be part of a stepwise process involving ongoing interactions between researchers and participants.
Rather than using “broad consent,” the authors proposed a “circular process of information exchange” involving public presentations, feedback from research subjects, and information being provided by researchers to subjects, if desired.
Although Wjst conceded that such steps will inevitably add expense to already costly genomics studies, he noted new electronic technology that could help bridge the gap between researchers and their research subjects.
“In the past, contacting participants after a study was over would have been prohibitively expensive,” he and his colleagues wrote, “but such contacts can now be easily managed by serialized SMS, e-mail, or regularly updated Web pages, with letters for those without Internet or mobile phone access.”
This essay marks the first time that Wjst and his colleagues have publicly tackled the issue of informed consent in genomics. “I’m not a hundred percent sure I’ll make too many friends with this paper,” he joked. But, Wjst added, informed consent merits a broader discussion in the genomics community.
“I strongly believe that we should do these kinds of [genomic] studies,” Wjst emphasized. Even so, informed consent should be considered at each step along the way, he said, so that researchers can be as transparent and forthright with research subjects as possible.

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