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Survey Shows Research Participants Want to Know Genomic Testing Information

NEW YORK (GenomeWeb) – A survey of nearly 7,000 people found that in cases where they consent to research involving genomic testing of their DNA, they want to know if researchers find  variants indicative of a serious preventable or treatable disease.

Reporting today in the European Journal of Human Genetics, researchers at the Wellcome Trust Sanger Institute asked nearly 7,000 people including genetic and non-genetic health professionals, genomic researchers, and the general public from more than 75 countries around the world about their preferences on receiving genomic information when they volunteer to participate in a research study.

When researchers find information relating to preventable or treatable life-threatening disease, 98 percent of the respondents said they wanted to be informed. However, the data was more nuanced on questions surrounding issues like incidental findings and variants pertaining to ancestry or unpreventable serious disease.

The survey was conducted as part of the Deciphering Developmental Disorders project, which has a goal of using genomic sequencing to find genetic diagnoses for rare developmental disorders.

"Policy surrounding the use of genetic data in research and clinical settings must be directed by the views and experiences of the public, patients, clinicians, genetic health professions and genomic researchers," Anna Middleton, the lead author of the study and a researcher at the Sanger Institute, said in a statement. "This study represents a first step in informing people of the issues and gathering their responses."

The researchers surveyed 4,961 members of the public, 533 genetic health professionals, 843 non-genetic health professionals, and 607 genomic researchers. They asked them about hypothetical situations about being a research participant in a genomic study and the types of information they would want to get back, including on preventable serious diseases, diseases that occur late in life, carrier status, uncertain information, and ancestry information.

The researchers found that respondents considered usefulness of genomic findings as key criteria to wanting to receive results. For instance, the majority of the respondents wanted information about serious conditions even if the risk of developing the condition was as low as 1 percent, but fewer respondents wanted results for less serious conditions.

Overall, genetic health professionals tended to be more conservative than the other groups on the types of information that they wanted returned. Only about half of the surveyed genetic health professionals wanted information about unpreventable and life-threatening diseases, while around 75 percent of non-genetic health professionals wanted that information.

Similarly, attitudes about issues like incidental findings were different among the different groups of survey respondents. Genetic health professionals were five times more likely than other groups to think that incidental findings should not be shared, while both genetic health professionals and genomic researchers were more likely to think that ancestry information should not be shared.

The vast majority of survey respondents also did not think that researchers should be required to actively search genomic data for pathogenic variants.

With the advance of whole-genome sequencing and exome sequencing in the clinic, a number of researchers have begun to address the issues and challenges around their implementation.

Last year, a consortium of researchers involved in various clinical sequencing projects devised recommendations, published in the American Journal of Human Genetics, to help navigate the issue of whether and how to return next-generation sequencing results to research participants. Mirroring survey respondents, the authors of the recommendations explicitly said that researchers should not actively search genomes for clinically relevant information, and that the task should only be done in a diagnostic setting.

Another CSER program that seeks to study individuals' views and preferences on what genomic information to receive has found that although many say they want to know essentially everything that can be found out, that number drops dramatically if subjects are required to make even a simple phone call for the information.