Genomic research potentially provides clinical information about the current and future health of the research subject. A finding with no interest for the research study could still be important for the research subject. It is not standard procedure to share this kind of information with the research subjects –but should it be?

2017.11.20 | Annette Bang Rasmussen

Anna Sundby, PhD student, Department of Clinical Medicine, Aarhus University

About the study

The return of pertinent (1) and incidental findings (2) has received ethical attention among researchers and clinicians, but less is known about whether potential research subjects want pertinent and incidental findings to be returned, and whether genetic researchers do have a duty to return individual findings. To our knowledge, no larger studies have investigated the attitudes of patients, relatives and health professionals in psychiatry and genetics toward the return of pertinent and incidental findings in genome sequencing in the research setting.

As a consequence, we designed a cross-sectional web-based survey to investigate the attitudes of 2,637 potential research subjects distributed on five groups of stakeholders: persons with mental disorders (N=241), relatives (N=671), blood donors (N=1,623), psychiatrists (N=74) and clinical geneticists (N=28). The objective was to better understand what potential research subjects in psychiatric genetic research would want to know from genome sequencing. The survey included a total of 9 themes and focused on attitudes toward: 1) sharing pertinent findings, 2) sharing incidental findings, 3) receiving incidental findings in different categories of severity and treatability, 4) sharing of raw genomic data, 5) the duty of genomic researchers to search for incidental findings, 6) risk perception, 7) filtering genomic data, 8) potential consenting procedures for genomic research studies, and 9) children in genomic research. In this article, we analyse attitudes toward the sharing of raw genomic data, pertinent and incidental findings and the duty of the researchers to search for incidental findings.

We found that a large majority of stakeholders agreed that both pertinent and incidental findings should be returned to research subjects. However, the majority did not want researchers to actively search for incidental findings nor did they want to receive all their raw genomic data. Most importantly, stakeholders were willing to refrain from receiving information if it could compromise the research. Our analyses show that a majority in the stakeholder groups would like to receive individual health-related findings, depending on the severity and treatability of the condition, information about drug response and carrier conditions relevant to their children.

The article “Stakeholders in psychiatry and their attitudes toward receiving pertinent and incident findings in genomic research” was published in: American Journal of Medical Genetics: Part A, 2017;173(10):2649-2658.

Facts about the study

• The survey uses ten explanatory video films with subtitles and voice-over to explain the survey background and to illustrate the ethical dilemmas related to the themes.
• Our results suggest that research subjects consider themselves as altruistic participants.
• We found significant differences in the attitudes between potential participants in research and the stakeholders who deal with genomic data in their clinical work, e.g. explaining findings to patients and relatives or providing care for people with mental disorders. Persons with mental disorders and relatives were generally more positive about receiving any kind of findings than clinical geneticists and psychiatrists.
• This study offers valuable insight, which may inform future programs aiming to develop new strategies to target issues relating to the return of findings in genomic research.

Further information

Anna Sundby, Psychosis Research Unit, Aarhus University Hospital, Risskov, Denmark. Email: Anna.sundby@regionh.dk