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23 May 2023
Understanding public and other stakeholder attitudes towards analysis and the return of clinically actionable results and other data will assist researchers, research institutions, professional bodies, and policymakers in formulating further best practice guidance and/or regulatory tools. The Your DNA, Your Say (YDYS) study examined whether the return of research results – described in terms of a readout of an individual’s DNA — would influence the willingness of members of the public to donate their DNA data and medical information to research.
The increasing availability and sophistication of genomic analysis is enhancing our understanding of the role of genomic variants in disease, particularly through whole genome and whole exome sequencing. Clinically actionable results, which reveal or predict conditions where preventive measures and/or treatments are available, may be generated as a result of genomic analysis of an individual’s genome, occurring in both clinical or research settings. However, the precise scope of the legal and ethical responsibility to return the results of genome analysis to research participants remains somewhat unclear, and current requirements vary between jurisdictions.
As a starting point, it is helpful to consider how ‘return of results’ is handled in clinical contexts. All clinical genetic testing is primarily designed to detect and return results related to the purpose of testing. Whole genome and whole exome sequencing may also detect clinically actionable genomic variation not otherwise related to the purpose of testing. Under what circumstances, if any, it is permissible, recommended, or mandatory to return such findings in clinical contexts is controversial. For example, the US-based American College of Medical Genetics and Genomics (‘ACMG’) has issued a set of guidelines with a ‘minimum list’ of variants that should be routinely assessed by clinicians on the basis that they have a high degree of clinical validity and utility. However, this approach has not been endorsed by professional bodies in some other jurisdictions.
In the research context, whether and how results should be returned has also been contested. Indeed, a recent review of international, regional and national laws relating to return of research results and incidental findings across 20 countries revealed a wide divergence in approaches. In contrast to these regulatory and legal differences between jurisdictions, there is broad consensus amongst researchers and research participants that return of results, whether related to the purpose of the research study or incidental, is desirable, especially when such findings are actionable. In light of this, in 2021 the Global Alliance for Genomics and Health (GA4GH) developed a policy addressing Clinically Actionable Genomic Research Results, which advocates for return of results to participants, without prescribing which results to return. The H3Africa Consortium has provided further guidance to inform decisions about whether to return individual genetic research findings by Consortium members to research participants.
Understanding public and other stakeholder attitudes towards analysis and the return of clinically actionable results and other data will assist researchers, research institutions, professional bodies, and policy makers in formulating further best practice guidance and/or regulatory tools.
Multiple studies have indicated that research participants have a high interest in receiving their individual research results. Across 221 articles analysed in a recent systematic review, research participants showed high interest in receiving primary research findings (that is, findings directly related to the research question). This was found to be the case particularly when the results were clinically actionable, although the studies analysed revealed more equivocal trends with regard to secondary and incidental findings (referred to by the authors of the systematic review as ‘secondary and unsolicited findings’).
Overall, the authors conclude that the empirical evidence provides strong support, whether from the perspective of the potential recipients of research results or researchers and other stakeholders, for return of research results that are reliable and clinically relevant.
However, most (80%) of the studies identified by the systematic review were undertaken in the US and Canada. Given international variation in both health systems and attitudes to personal data, there remains an open question over whether the outcomes of this extensive body of empirical studies in these jurisdictions, which tend to support the return of research results, is a clear indicator of global attitudes. This points to the need to examine stakeholder views in other, more culturally diverse contexts. Your DNA, Your Say (YDYS) is an attempt to address this need.
YDYS was a questionnaire survey that collected responses between 2017 and 2019. The YDYS dataset includes responses from 37,000 individuals across 22 countries. The study examined whether the return of research results – described in terms of a readout of an individual’s DNA – would influence the willingness of members of the public to donate their DNA data and medical information to research. The study revealed substantial variation in the extent to which return of results influenced willingness to donate across the countries studied.
In 16 of the 21 countries studied in the YDYS survey, respondents were substantially less likely to be motivated by the return of research results to donate DNA or health data than those in the US and more likely to be not influenced by the return of these results at all. This was only countered by respondents from Russia, where participants were likely to be more influenced. Indeed, respondents from across 20 countries had lower odds of being partially or wholly influenced by return of results than those from the US.
Overall, 25.2% of the respondents said they would not donate their DNA and medical information (regardless of return of results); 24.4% of the respondents said their decision to donate would be partially influenced, and 18.4% of the respondents said their decision would be wholly influenced by return of results. A little more than 17% of the respondents reported that they were unsure, whereas 14.7% of the respondents reported that their decision to donate would not be influenced by return of results at all.
Responses relating to willingness to donate show that being wholly influenced by return of results was most commonly reported by respondents from Russia (32.7%), the US (30.5%), India (28%), and Pakistan (26.9%). This was least commonly reported by respondents from Japan (9.2%), Spain (11.6%), Sweden (12.7%), and the UK (13.9%). Being partially influenced by return of results was most commonly reported by respondents from China (39.4%), Poland (27.8%), and Russia (27.6%). Respondents from Brazil, Portugal and Italy were most likely to report that return of results had no influence on their willingness to donate their data (24.1%, 23.7%, and 22.2% respectively). This clearly illustrates that there are differences in public attitudes towards return of research results between countries, and that studies focused wholly on the US and Canada do not reflect this global diversity.
The comparative findings from YDYS illustrate that public attitudes to return of research results are nuanced and heterogeneous. Specifically, the findings suggest that there is a need to distinguish between peoples’ general interest in information about themselves and the expectation that this will be provided as a quid pro quo for data donation, and that the importance of the latter varies across countries.
These findings are important when considering the role of public perspectives in shaping the design of return of results policies, particularly where genomics initiatives contemplate moves beyond the return of narrow predefined results (such as the list proposed by the ACMG) to more open forms of data access. It suggests that while people may be highly interested in receiving research results – and there may be other valid ethical arguments for providing these – it does not necessarily follow that not receiving results would prevent their participation.
The results of the YDYS study suggest that while members of the public may be guided by reciprocity in their decisions about whether or not to share their DNA and medical information, it is not necessarily in the sense of a transactional quid pro quo for participation. This suggests that, rather than a transactional arrangement, the duty of reciprocity should be seen as underpinning the evolution of a robust social contract for genomic medicine into the future.
It should be noted that further research into public attitudes towards return of research results is currently being undertaken in many jurisdictions, using a variety of methods beyond population-wide surveys.
Hoell, Christin, Julia Wynn, Luke V. Rasmussen, Keith Marsolo, Sharon A. Aufox, Wendy K. Chung, John J. Connolly, et al. “Participant Choices for Return of Genomic Results in the EMERGE Network.” Genetics in Medicine 22, no. 11 (November 2020): 1821–29. https://doi.org/10.1038/s41436-020-0905-3.
Middleton, Anna, Katherine I Morley, Eugene Bragin, Helen V Firth, Matthew E Hurles, Caroline F Wright, and Michael Parker. “Attitudes of Nearly 7000 Health Professionals, Genomic Researchers and Publics toward the Return of Incidental Results from Sequencing Research.” European Journal of Human Genetics 24, no. 1 (2016): 21–29. https://doi.org/10.1038/ejhg.2015.58.
Middleton, Anna, Caroline F. Wright, Katherine I. Morley, Eugene Bragin, Helen V. Firth, Matthew E. Hurles, and Michael Parker. “Potential Research Participants Support the Return of Raw Sequence Data.” Journal of Medical Genetics 52, no. 8 (August 1, 2015): 571–74. https://doi.org/10.1136/jmedgenet-2015-103119.
Mwaka, Erisa Sabakaki, Deborah Ekusai Sebatta, Joseph Ochieng, Ian Guyton Munabi, Godfrey Bagenda, Deborah Ainembabazi, David Kaawa-Mafigiri, “Researchers’ Perspectives on Return of Individual Genetics Results To Research Participants: A Qualitative Study” Global Bioethics 32 (2021): 15-33. https://doi.org/10.1080/11287462.2021.1896453
Nobile, Hélène, Pascal Borry, Jennifer Moldenhauer, and Manuela M Bergmann. “Return of Results in Population Studies: How Do Participants Perceive Them?” Public Health Ethics 14, no. 1 (April 1, 2021): 12–22. https://doi.org/10.1093/phe/phaa034.
Sanderson, Saskia C., Michael A. Diefenbach, Randi Zinberg, Carol R. Horowitz, Margaret Smirnoff, Micol Zweig, Samantha Streicher, Ethylin Wang Jabs, and Lynne D. Richardson. “Willingness to Participate in Genomics Research and Desire for Personal Results among Underrepresented Minority Patients: A Structured Interview Study.” Journal of Community Genetics 4 (2013): 469–82.
Sanderson, Saskia C., Michael D. Linderman, Sabrina A. Suckiel, George A. Diaz, Randi E. Zinberg, Kadija Ferryman, Melissa Wasserstein, Andrew Kasarskis, and Eric E. Schadt. “Motivations, Concerns and Preferences of Personal Genome Sequencing Research Participants: Baseline Findings from the HealthSeq Project.” European Journal of Human Genetics 24, no. 1 (January 2016): 14–20. https://doi.org/10.1038/ejhg.2015.118.
Sayeed, Sabina, Robert Califf, Robert Green, Celeste Wong, Kenneth Mahaffey, Sanjiv Sam Gambhir, Jessica Mega, et al. “Return of Individual Research Results: What Do Participants Prefer and Expect?” PLOS ONE 16, no. 7 (July 29, 2021): e0254153. https://doi.org/10.1371/journal.pone.0254153.
Vears, Danya F., Joel T. Minion, Stephanie J. Roberts, James Cummings, Mavis Machirori, Mwenza Blell, Isabelle Budin-Ljøsne, et al. “Return of Individual Research Results from Genomic Research: A Systematic Review of Stakeholder Perspectives.” PLOS ONE 16, no. 11 (November 8, 2021): e0258646. https://doi.org/10.1371/journal.pone.0258646.
Van Der Merwe, Nicole, Raj Ramesar, Jantina De Vries, “Whole Exome Sequencing in South Africa: Stakeholder Views on Return of Individual Research Results and Incidental Findings.” Frontiers of Genetics. 13 (2022): 864822. https://doi.org/10.3389/fgene.2022.864822
Dianne Nicol, Maili Raven-Adams, Richard Milne and the Public Attitudes for Genomic Policy Subgroup, Regulatory and Ethics Work Stream, GA4GH. The YDYS study was designed and led by Anna Middleton.
This brief is part of the Public Attitudes for Genomic Policy blog series, developed by the GA4GH Regulatory & Ethics Work Stream (REWS). Visit here to read all briefs.