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UK's Genome Ethics Effort Aims to Determine What Genomic Data Should Be Reported to Study Participants

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Millions of whole-genome genotyping arrays have been run as part of various studies over the past decade, but how much information obtained from genome-wide scans should be reported to study participants?

Researchers at the Wellcome Trust Sanger Institute in Hinxton, UK, plan to find out through a project called Genome Ethics. The aim of the study is to gather empirical data to help guide policy decision-making on the sharing of findings from whole-genome research studies.

The project is part of the Sanger's ongoing Deciphering Developmental Disorders study. DDD, which commenced last year and is expected to wrap up in 2015, aims to uncover the genetic basis for developmental disorders that occur in children who currently have no diagnosis, by doing whole-genome analysis of affected families (BAN 3/29/2011).

Genome Ethics is being conducted by Anna Middleton, an ethics researcher at the Sanger Institute, and Mike Parker, professor of bioethics and director of the University of Oxford's Ethox Centre.

Middleton told BioArray News this week that the ethics project aims to gather large-scale quantitative data on what information research participants in genome-wide studies want to receive.

The ethics research uses an online questionnaire to gather attitudes with a particular focus on involving members of the public, including research participants from DDD as well as other genome studies, and also health professionals and genome researchers, she said. According to Middleton, anyone is welcome to participate in the questionnaire.

Though the research that has been done so far has involved "small groups of people," Middleton said that the Sanger's Genome Ethics study is "international, hopefully involving many thousands of people."

As Genome Ethics is a descriptive, exploratory study using both quantitative and qualitative data, it doesn't require a power calculation to predict numbers to prove a hypothesis, she added. "We are basically trying to get as many people from as varied a background as possible to take part; as the recruitment is online it is worldwide," said Middleton. "We are hoping for 20,000 participants."

One reason for the study is increased pressure to share information obtained from such studies with the participants. "In the past genomic studies have been done anonymously on samples with no data feedback," said Middleton. "But increasingly there is pressure now to involve the research participant more in the study and enable them access to their personal results," she said. "But when a whole genome is analysed what should be shared? Everything? Including raw sequence data or just clinically actionable results? This is what our study aims to unpick."

Middleton said that the project also aims to interview people to explore attitudes toward sharing data in more depth. Specifically, 50 such qualitative interviews in the UK are planned.

Funding is being provided through the DDD project. In that project, researchers at the Sanger and the UK's National Health Service will use arrays to analyze the genomes of up to 12,000 children with physical and mental developmental problems and multiple birth malformations in the hopes of developing new means to diagnose and treat these disorders. To accomplish that, the researchers are using Agilent Technologies comparative genomic hybridization arrays and Illumina whole-genome SNP-genotyping arrays, as well as next-generation sequencing platforms to seek out copy-number variations, exon deletions, and single base-pair changes that may be causing these developmental disorders.

BioArray News spoke with DDD project coordinator Nigel Carter shortly after the initative was announced last year (BAN 3/29/2011).

Middleton noted that the DDD study will not report incidental findings — defined as any genomic result unrelated to a developmental disorder — to participants, as it would violate the protocol of the NHS Research Ethics Committee for the study.

"So even if the ethics study finds beyond any reasonable doubt that incidental findings should be fed back to research participants, this would not be possible in DDD without a significant amendment to the REC approval," Middleton said. The findings from the ethics study, therefore, are going to be of particular importance to future genomic studies, she said.

Middleton noted that the decision to share such information with participants could have an "enormous" impact on researchers in terms of cost and time. It could also have a "far-reaching impact" on clinicians who may be expected to explain and act on genomic research results.

"One of the spin-offs from the research is likely to be more of a connection necessary between researchers and clinicians and RECs are likely to require new genomic research studies to have clear processes in place to explain how they propose to feed back results," said Middleton. "This is likely to need the direct involvement of clinicians."

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