By Lori Solomon, Editor, Diagnostic Testing & Emerging Technologies
Although there is general interest in receiving genomic results from sequencing study participation, most people do not expect researchers to go out of their way to screen for incidental findings (IFs) in a research setting, according to a survey of nearly 7,000 participants. The study, published April 29 in the European Journal of Human Genetics, surprisingly, found substantial differences in attitudes toward the return of genomic data between the public and genetic health professionals.
The United Kingdom-based investigators undertook what is being called the largest study to date of attitudes surrounding return of IF from research studies, to address the "existing paucity of data" available to inform policy. It is currently being debated whether researchers should have an obligation to actively search for IFs in a research context. The researchers conducted a web-based survey of 6,944 individuals from 75 countries regarding the hypothetical return of IFs from genome research. Participants included four stakeholder groups: 4,961 members of the public, 533 genetic health professionals, 843 non-genetic health professionals, and 607 genomic researchers. Participants were recruited using traditional media, social media, and direct e-mail invitation to professional groups comprising health professionals and genomic researchers.
The vast majority of all stakeholders thought that results from genome studies (both pertinent findings and IFs) should be returned to research participants, if they wanted them. Participants were much more likely to be interested in information relating to life-threatening conditions if the condition was preventable or treatable. However, when asked if genomic researchers should deliberately search for IFs that were not relevant to their research, participants "appreciated the potential burden" and only a minority of respondents thought this was reasonable. Genetic health professionals were five times more likely than the general public to think that IFs should not be returned and three times more likely to think that genomic researchers should not actively search for IFs irrelevant to their research.
"[Genetic health professionals] are perhaps more likely to be more cognizant than most of the importance of information being accurate and truly predictive of disease, as they routinely explain such results to patients, write the authors led by Anna Middleton, from Wellcome Trust Sanger Institute in the United Kingdom. "Thus, one of their concerns about genomic data may relate to clinical validity and utility. As we collectively understand more about normal population variation and interpretation processes improve it will become easier to determine if a suspected pathogenic variant is indeed pathogenic. And at that point it will be interesting to see whether attitudes of genetic health professionals change."
For more information on how patient preferences are affecting adoption of genetic testing, please see the May issue of Diagnostic Testing & Emerging Technologies.