A survey of nearly 7,000 people found that 98 percent want to to know if their genetic data contains indicators of a serious preventable or treatable disease. The study comes after the Government's announcement that Genomics England will sequence 100,000 genomes by 2017, begins an important and on-going conversation about how our genomic data is used. 

The survey was conducted as part of the Deciphering Developmental Disorders (DDD) project, which seeks to find genetic diagnoses for rare developmental disorders using patients' sequence data. The DDD project did not search this data for disease indicators and only returned results likely to be linked to the patients' disorders. This fits well with the findings of the survey as, while participants were keen to learn about their genetics, the majority did not think researchers should be required to actively search for key indicators of disease in genomic data if it would reduce the time and resources spent on medical research.

The authors say that genomic data has a perceived value to participants even if it is not currently clear what the information means for health outcomes. There is also concern about returning data that cannot yet be interpreted accurately.The usefulness of findings was an important consideration for the majority of respondents, who were drawn from 75 countries around the world. The majority of participants wanted to receive information about serious conditions, even if the risk of developing the condition was as low as 1 percent.Fewer people were interested in receiving results for less serious conditions. 

Of the interest groups surveyed, genetic health professionals were 5X more likely than other groups to think that incidental findings, results that are not the main focus of a research project but may be of clinical importance, should not be shared. Both genetic health professionals and genomic researchers were more likely to think that information about ancestry should not be shared.

"Genetic health professionals are acutely aware of the challenges posed by interpreting genetic information accurately and communicating results to patients," explains Dr Helen Firth, a co-author from the Department of Clinical Genetics at Addenbrooke's Hospital. "There are still so many unknowns; having key indicators for a disease in your genetic code may not necessarily mean that you will develop that disease. Much of the information in our personal genetic codes is currently uninterpretable and of uncertain clinical significance. It will take many years of research before we know how to use much of this data for clinical benefit. As this knowledge is gained, our survey will help researchers and health policy makers to plan accordingly."

Citation: Middleton, A et al. (2015). Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research. European Journal Human Genetics. DOI:10.1038/ejhg.2015.58