30 April 2015
A major international survey of almost 7,000 people has revealed significant differences in the view of potential genomic research participants and genetic health professionals on feedback of incidental findings (IFs).
IFs are unexpected but medically significant results that occur during investigations for research or clinical purposes. They are by no means unique to genomic analysis, but with the relatively recent advent of whole genome sequencing, they are a significant issue both for large-scale genomic research and clinical implementation.
Published in the European Journal of Human Genetics, the survey is the work of researchers at the Wellcome Trust Sanger Institute, and linked to the Deciphering Developmental Disorders (DDD) project. Respondents fell into four different categories: genomic researchers, genetic health professionals, non-genetic health professionals, and the public. Significant differences were observed between the views of people from these different categories, although not between those of people from different countries. The views of the public and genetics health-professionals showed the greatest divergence.
Whilst 98% of the public wanted to know about the possibility of preventable, life-threatening disorders, genetic health professionals were five times more likely to think that incidental findings should not be reported. The researchers say that this disconnect should be explored and addressed by researchers and clinicians, and taken into account in future policy development.
Co-author Dr Helen Firth commented: "Genetic health professionals are acutely aware of the challenges posed by interpreting genetic information accurately and communicating results to patients. There are still so many unknowns… It will take many years of research before we know how to use much of this data for clinical benefit".
Public interest in learning about genetic risks of serious medical conditions was not blind enthusiasm, however; feedback of information about increased risk of less serious conditions was considered less important, and the capacity for prevention or treatment of a possible disease was also a factor. People were less keen to know about untreatable conditions. As might be expected from those interested in genomic research, people did not think that researchers should perform opportunistic screening for harmful variants if it used up resources that would otherwise be used to further research.
Lead author Dr Anna Middleton said: "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. This study represents a first step in informing people of the issues and gathering their responses".
She reportedly told BioPharma that a ‘natural extrapolation’ of public enthusiasm “could be that they would be positive about engaging with drug makers to support the development of treatments”. Further research will consider attitudes towards sharing genomic data with third parties.