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NHGRI Plans Genomic Research Ethics Grants

By Matt Jones

NEW YORK (GenomeWeb News) – The National Human Genome Research Institute is currently developing a grant program that would address some of the major ethical problems facing genomics researchers by having scientists who study ethics, legal, and social (ELSI) issues work with researchers conducting medical sequencing projects.

A central problem nagging human genomics researchers in the post-Human Genome Project era, amid a bloom of large-scale medical sequencing studies that are targeting disease variants and genomic data analysis projects, is whether or not to let participants know about information discovered in their genomes regarding their risks for diseases or conditions.

Some scientists believe that there is an ethical obligation to tell people about potential disease risk variants, particularly if there may be interventions or risk-reduction strategies that the individuals could take.

However, some scientists or institutional review boards may see it differently. They may consider that sharing disease risk information in some cases would be unethical, particularly if the participant was told that they would not be contacted, if there is no known interventions for the disorder, or if the clinical significance of the information is not clear.

This proposed NHGRI program, which has been cleared at least in its concept form, most likely will focus on such issues by funding collaborations between ELSI and medical sequencing researchers, enabling them to integrate the ethics approach with the medical studies, Jean McEwen, NHGRI's program director for Law, Social Policy, Genetic Variation in Complex Traits & Behavioral Genetics, told GenomeWeb Daily News late last week.

McEwen said that the National Advisory Council for Human Genome Research (NACHGR), which met early last week, has cleared the concept for the program, although it is still unclear how the collaboration with ELSI researchers and genomics scientists will be structured, when the grants will be released, and what the final funding amounts will be, McEwen said.

The proposal that NACHGR approved in concept, but which is still in development, may involve two grant solicitations, according to a proposal that McEwen presented, with one targeted toward investigators who are proposing small-scale social and behavioral research projects, and another to support collaborative efforts with medical researchers.

The second research effort would attempt to generate empirical data about whether participants in genetics and genomics studies are interested in receiving individual research results. The researchers also would seek to find out how participants understand various types of information, what impact it has on them, and if they incorporate it into their lives, such as changing their behaviors or habits.

That initiative will be aimed at "investigators proposing social or behavioral research studies in which there is likely to be direct interaction with participants in current, ongoing genetics or genomics studies," particularly those that are involved in collaborations with the researchers who are generating the data.

McEwen said that the final requests for applications are likely to "focus on getting the ELSI researchers to collaborate with the genomics researchers."

While some surveys have been conducted about the opinions and attitudes of participants in genomics studies regarding their personal information and feelings about getting disease-risk information returned to them, these studies would use a more integrated approach.

"More than surveys, these would be studying people in actual settings where they are getting information given back to them," McEwen said.

She believes that approach offers a new way to structure the ELSI research so that it is more direct and has greater potential for elucidating participants' feelings and needs, and that would be useful for drafting policies for researchers and IRBs to adopt.

"The basic question here arises if you're really talking about looking across the genome and developing massive quantities of information, rather than just looking at a particular variant," she said, describing the type of genome-wide association and sequencing studies that are becoming more widely used as the cost of sequencing drops and as informatics advances enable the analysis of such mounds of data.

"You may or may not find the answer to the specific questions you're looking for," said McEwen. "Almost certainly you're going to find a whole lot of stuff that you were not looking for. If you come across a BRCA mutation, what do you do with that? Is it unethical to reveal it [to the participant] or is it unethical not to reveal it?"

What NHGRI wants to do with these grants is to "get some data about how people are reacting when they are in those situations," she said. "Are they happy to have it, or are we putting people into panic mode?"

Most of the studies conducted in this area to date have shown participants have "an overwhelming preference for learning such information," according to the concept clearance proposal.

"However, responses become more equivocal when people are asked to consider the uncertainties and nuances that can be raised by incidental, unanticipated findings, findings with unknown or uncertain significance, or findings for which the significance may change over time," according to McEwen's proposal.

She also said that there may be differences between what people say they want in theory and what they actually want "when confronted with a 'real-life' situation."

Because of these nuanced issues, this type of research is needed to "rigorously and systematically" study what information genomics research participants want returned to them, how they respond to or use the knowledge, and what impact it has on their lives, McEwen said.