Published online 21 October 2008 | Nature | doi:10.1038/news.2008.1182

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Give me my genome

Personal genome sequences could herald a shift in research participation.

George Church's Personal Genome Project is studying how participants deal with genetic information.G. RAMSAY/HARVARD UNIV./BLOOMBERG NEWS

Eight of the ten people taking part in an experimental genome-sequencing project said yesterday that they would post all of their genetic and medical data on the Internet for anyone to see. By doing so, the participants could be on the leading edge of a rethink of standard clinical-research rules that prevent most research subjects from learning the results of investigations in which they participate.

The ten people are taking part in the Personal Genome Project, which aims to increase understanding about the usefulness of individual genetic data and the effects on patients' lives and society. It was launched last year by George Church (see 'Profile: Meet Exhibit I'), a geneticist at Harvard University in Cambridge, Massachusetts. Yesterday, the participants talked about their early results and how much they had decided to make public.

The participants have been briefed by genetic counsellors about their data. Some now know the sequences of a portion of their protein-coding genes, whereas others have only been told the composition of their single nucleotide polymorphisms, or SNPs, which are small markers of genetic variability. The eventual plan is to provide all of them with their full genome sequence.

So far, none of the participants said they had learned any dramatic new revelations about their risk for disease and few had concerns that it might have negative consequences. John Halamka, chief information officer and dean for technology at Harvard Medical School in Boston, Massachusetts, is one of the eight who said they would reveal everything that has been determined so far. He said that the passing of the Genetic Information Nondiscrimination Act in the United States earlier this year had lessened the risk that participants might lose their health insurance or their job based on their genetic predisposition to disease, but added, "It doesn't cover how your employees or your colleagues may react [to this information]."

Misha Angrist, an editor at the Duke University Institute for Genome Sciences and Policy in Durham, North Carolina, said he would post his SNP data, but was unsure how he would handle his sequence data because he has young daughters whose futures might be affected by that information. Psychologist Steven Pinker of Harvard University said he would post all of the genetic data he has received but may decide to withhold results on his APOE gene, which can indicate the risk of developing Alzheimer's disease. "I'm going to give it some more thought before agreeing to know what that is," Pinker said.

A right to know

Psychologist Stephen Pinker says he may not reveal his APOE gene sequence because it could contain information about Alzheimer's disease risk.R. GOLDSTEIN

Until recently, most genetics studies prevented participants from learning information about themselves. The rules are intended to protect people from being lured into risky research by the promise that it may eventually help them. For example, the genetic data of many thousands of individuals are used in association studies to track down genes linked to diseases such as diabetes, but the participants are not told their personal sequence results.

That might change if participants begin to demand their genetic sequence. The Personal Genome Project and other related studies are testing how people behave when they receive their own genetic-risk information that may have an as-yet-unknown value: "People feel it's their right to get these data," Church says.

Similar studies include the Coriell Personalized Medicine Initiative, which hopes to enrol 100,000 people; a study involving Navigenics of Redwood Shores, California, and other partners which will include 10,000 people; and two studies sponsored by the US National Institutes of Health in Bethesda, Maryland.

Some researchers have already found that people want to know information about their genetics and health, and that it can affect their probability of participating in research. Geneticist Joan Scott of the Genetics and Public Policy Center, Washington DC, asked more than 4,000 people whether they would donate samples to a large biobank. The vast majority of those surveyed said they would participate. But in small focus groups, people said they would be much more likely to participate if they could get back research results from studies done on the biobank that might impact on their own health.

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If most research subjects start to demand information in return for participation, the shift would raise new questions for researchers and patients. For instance, it might add logistical burdens to return and interpret such data. And it is not clear what patients will do with potentially ambiguous results, such as those delivered by current genetic scans (see 'Genetic testing for everyone').

Church hopes his study will help to answer some of these questions. He says the project has heard from more than 1,000 potential volunteers, and that Harvard has given him the green light to include up to 100,000 participants in total. 

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