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US Study, UK Survey Find Subjects of Sequencing Studies Favor Receiving Results

NEW YORK (GenomeWeb) — A study by researchers at the Icahn School of Medicine at Mount Sinai and a survey by scientists in the UK found that most people would like to obtain personal results from research sequencing studies, and a majority wants to receive their own raw sequence data.

The Mount Sinai study, published online in the European Journal of Human Genetics last week, studied preferences for return of results and data sharing among 35 participants who had their whole genomes sequenced as part of the HealthSeq project.

The UK survey, presented at the European Society of Human Genetics annual meeting this week, analyzed responses from almost 7,000 individuals from 75 countries about their hypothetical participation in a sequencing research study.

For the HealthSeq project, the Mount Sinai researchers, led by Eric Schadt at the Icahn Institute of Genomics and Multiscale Biology, recruited 35 apparently healthy individuals from the general population at the Mount Sinai Medical Center to have their genomes sequenced and to receive a variety of genetic results. At several points during the study, participants completed questionnaires and in-depth interviews.

HealthSeq participants were able to receive several types of results, including their genetic risk of type 2 diabetes, heart disease, and Alzheimer's disease, pharmacogenomic results, carrier status information, predicted physical traits, and ancestry information.

Ninety-four percent of participants said they wanted to receive all personal whole-genome sequencing results, and 89 percent requested their raw sequence data. Fifty-seven percent of study subjects expressed privacy concerns, and a third agreed to contribute their data to the Database of Genotypes and Phenotypes (dbGaP).

Asked about their motivation for participating, they most frequently cited "obtaining personal disease risk information," "satisfying curiosity," "contributing to research," "self-exploration," and "interest in ancestry," while their dominant concern was the "potential psychological impact of the results."

"Our findings suggest that some people will seek out personal genomic information about themselves, regardless of whether it's viewed as clinically useful or medically actionable," Saskia Sanderson, one of the lead authors of the publication and a research psychologist Mount Sinai, said in a statement. "In the medical and scientific communities, there is considerable debate about the potential utility, or lack thereof, of personal genome sequencing for preventive or predictive purposes," she said. "But if people are going to seek out this information regardless, we need to start figuring out how — not whether — we are going to do this."

The researchers are now collaborating with other institutions to examine whether the insights they gained from the HealthSeq study, which was small in size, hold up in a larger cohort of individuals who had their genomes sequenced through different initiatives, according to the statement.

The online survey by the UK researchers, which was publicized over social and traditional media and via e-mail, was designed to study the attitudes of patients, health professionals, genomic researchers, and the general public in sequencing research, according to a press release. Anna Middleton, a principal staff scientist at the Wellcome Trust Sanger Institute in Cambridge, UK, presented the results at the ESHG meeting.

Survey respondents were asked to imagine their participation in a sequencing research project that would allow them to obtain personal results. Ten short videos explained the possible nature of those results to them.

Ninety-eight percent of participants said they would like to know about genes linked to treatable conditions that were serious or life threatening, even if the chance of such a condition occurring was only 1 percent.

The survey also found that 59 percent of participants would like to obtain their own raw sequence data.

In addition, participants said they would like researchers to reanalyze their data and report new findings to them, but were willing to not receive individual results if that detracted researchers from the actual studies.

"It would now be very helpful to explore the value that people put on genomic data," Middleton said in the release. "For example, would they pay for an interpretation and, if so, how much?"

Another future goal is to study the experience of real rather than hypothetical research participants, she said, in particular how clinically actionable results are returned and what participants do with their raw sequence data.

"Some of our participants mistakenly thought they could put their data into Google and an interpretation would pop out," she said in the statement. "Researchers mustn't leave their participants stranded, so they should only share raw sequence data together with an explanation of what can be done with this."