Disease states, including cancer, have been linked to a complex interplay of genetic susceptibility and lifestyle/environmental factors. Whole-genome sequencing using large sample pools offers researchers the best opportunity to identify statistically significant disease-associated genomic factors for prevention, diagnosis and development of personalized treatment strategies.
As a source of biospecimens, biobanks play an important role in this process. However, the nature of genomic research, which involves linking samples with personal data (clinical and lifestyle), introduces ethical concerns:
- Best practices require specific consent that accounts for research purpose and content as well as potential risks and benefits. Genomic research requires broad data sharing among groups of researchers to facilitate maximum clinical utility, rendering specific consent for future research impossible.
- Since the human genome is intrinsically self-identifying, it may be impossible to completely protect patient privacy via traditional data protocols like de-identification and anonymization. This, combined with broad data sharing, yields potential risk of donor re-identification.
- Finally, genomic data could reveal genomic conditions that might result in participant stigmatization and/or discrimination. The gathered data may include information of clinical utility to participants, including intended and incidental findings.
Ultimately, the success of genomic research depends on gaining and maintaining participant trust, particularly as it relates to ethical issues. Towards this end, Husedzinovic et al. systematically analyzed current literature to assess the stance of relevant stakeholders (participant donors drawn from patient pools, members of the general public and research professionals) regarding informed consent, privacy protection and handling of incidental findings.1 To accomplish this, the team searched the Web of Science database for relevant articles, selecting 40 total pieces made up of the 20 most current and 20 most cited publications.
Most patient donors preferred one-time general consent (including opting in to future research); the minority (10–20%) preferred the option to reconsent for each future study. According to two papers, 10–30% of patient donors stated a preference for personally selecting research areas for their specimens. Another study indicated that up to 81% of patients with archived samples wanted to know if those samples would be used for research purposes. The motivations associated with this were curiosity, confidentiality concerns and desire to exercise the patients’ right to know. This differed from public participants, 44% of whom preferred reconsent protocols prior to each new study. According to one study, 10% of these donors wanted the option to decline participation in future research they deemed undesirable.
The majority of donors (both patient and public) expressed positive regard for biobank-based genomic research, including concomitant data sharing, and indicated willingness to donate altruistically. Stakeholders expressed variability regarding potential risk associated with data sharing, including concerns about insurability, employment, health care access and stigmatization. Overall, both patient and public donors indicated that these concerns did not outrate willingness to participate. According to both quantitative and qualitative studies, both types of donor expressed greater trust in non-profit or publicly funded research organizations. For-profit organizations, insurance companies and the pharmaceutical industry inspired little to no trust in these respondents. The majority of donors expected informed consent protocols to include data-sharing practices and protections. Donors also expected genomic data would only be shared with permission and believed that breaches of this trust should carry sanctions. Public donors further preferred to consent to research aims and the specific recipient institution(s) before data sharing occurred.
Most patient donors preferred to be informed of predisposition for disease, regardless of curability/treatability and without respect for likelihood of disease development. Public donors displayed a wider range of responses, with some viewing this data as an unnecessary burden and others preferring to be informed. Professional respondents expressed support for the return of incidental findings that were valid, clinically significant and treatable/preventable, according to donor preference. Universal reasons for access to incidental findings included the option to take preventative action, make family planning decisions, and feel empowered or in control. The public donors listed concerns like uncertain results, misunderstandings, and worries about additional testing and/or treatment. Professional respondents expressed concern about possible emotional or psychological harm with potential loss of public trust. They also mentioned issues like complexity and validity of results as well as uncertainty of interpretation. The majority of patient and public donors stated that participants and their physicians should receive findings. A full two-thirds of professionals felt that a clear guideline on this issue would be helpful. They further indicated that these findings would require coordination of research teams, medical geneticists and genomic counselors.
Husedzinovic et al. indicate that this data could affect policy making. They observe that most patient donors would donate under a broad consent model, but biobanking centers could encourage greater participation from both patient and public donors if they annotated samples with research areas to which participants specifically consented and restricted research use accordingly. They further suggest that a tiered consent protocol could include categories pertinent to incidental findings (treatable, inheritable, etc.) so that donors could select the results they prefer to receive. Finally, specific professional guidelines regarding the management of incidental findings would support professionals in interpreting clinical relevance and coordinating experts for sharing the results.
1. Husedzinovic, A. et al. (2015) “Stakeholders’ perspectives on biobank-based genomic research: Systematic review of the literature,” European Journal of Human Genetics (March), doi:10.1038/ejhg.2015.27.