Eighty Dutch investigators (response 41%) involved in biobank research responded to a web-based survey addressing communication of results of biobank research to individual participants. Questions addressed their opinion towards an obligation to communicate results and related issues such as ownership of blood samples, privacy, therapeutic relationship, costs and implications for participants. Most researchers (74%) indicated that participants only have to be informed when results have implications for treatment or prevention. Researchers were generally not inclined to provide more feedback to patients as compared with healthy participants, nor were they inclined to provide feedback in return for participants’ contribution to the biobank. Our results demonstrate major and significant differences in opinion about the feedback of individual results within the community of biobank researchers.
To understand the interplay of genetic and non-genetic factors in the origin of multifactorial diseases, biobank initiatives have been launched worldwide. One of the greatest promises of research involving biobanks is that it will lead to individualized medicine. This optimism is counterbalanced by concerns about the ethical, legal and social implications of genomics research. One of the discussions relates to the obligation of biobank researchers to provide feedback to individual participants about research results in general, and individual genetic variations in particular.1, 2, 3, 4, 5, 6, 7 Issues related to the communication of results comprise among other a lack of clarity about what may constitute research results (with discussions about validity, clinical significance and incidental findings versus expected research results); how to accommodate participant preferences in informed consent procedures; the risk of breaching confidentiality and/or fostering therapeutic misconception, that is, the blurring of the relevant distinction between research practice and clinical care; and how to ensure proper disclosure given the complexity of the information and the costs involved.
Professionals involved in genetic research are key figures in this debate. However, only few studies addressed their opinion on this issue.8, 9, 10, 11 We surveyed researchers involved in biobanks to study their opinions towards an obligation to return research results to participants and related issues such as ownership of blood samples, privacy, therapeutic relation, costs and implications for participants.
Participants and procedure
A convenience sample was used comprised of researchers recruited using a database as composed by a foresight committee of the Royal Netherlands Academy of Science and Art on behalf of a previous survey among those involved in the banking of tissue as related to common complex disorders.12 This database comprises individuals working at the departments of various Dutch Academic Medical Centers, including departments of epidemiology, general practice, rheumatology, oncology, pathology, lung diseases and immunology. We added members of the project teams of known Dutch biobanks to this database. However, despite considerable effort, it is not known to what extent members of the final database are representative of the community of Dutch researchers involved in biobanks. All identified researchers were approached via e-mail and received a link to the survey. Two reminders were sent, if needed. Our hospital's Medical Ethics Committee provided an exemption for the study to seek formal approval.
First we assessed the respondents’ eligibility by checking their involvement with a biobank; the survey ended if the respondent was not involved. A biobank, in the survey referred to as DNA-bank, was described as ‘a collection of DNA from tissue joined with medical, genealogical and/or other data (ie, lifestyle). DNA is used for scientific research about the relation between genes and environment regarding multifactorial diseases. It is not used for patient care/diagnostics’. Research results were defined as ‘results of scientific research concerning the relation between genes and environment related to multifactorial conditions’, participants as ‘those (18 years and older) who contributed DNA (and other data) on behalf of the DNA bank’. Aggregate results were described as ‘findings relevant at a group level’, individual results as ‘information about genetic variations that in some form or other may be relevant for a specific individual participant of a biobank’. Respondents involved in multiple biobanks were asked to consider the biobank they knew most about.
Opinions toward the duty of researchers to communicate research results were assessed using one statement concerning aggregate and 12 statements addressing individual research results, respectively (see for wording of question, items and response options Table 2). Ten additional questions addressed issues pertaining to the discussion whether individual research results should be communicated (see for wording of question, items and response options Table 3). Participants could not complete the questionnaire unless they answered all questions. We used similar items as in a previous survey assessing participants’ opinions concerning the feedback of research results.13 A first version of the questionnaire was adapted to enhance clarity based on expert review (an ethicist and two genetic researchers). Descriptive statistics were employed, using the statistical program SPSS 17.0 for Windows (Chicago, IL, USA).
Of the 278 researchers approached, 164 (59%) responded to the survey; 84 of them were not involved in biobanking (anymore), leaving 80 responses eligible for analysis (41% of the 278 minus 84 potentially eligible respondents). Over half of the respondents (56%) were involved in more than one biobank (see Table 1 for characteristics).
Half of the respondents (49%) expected individual results to become available in the next 20 years, 39% expected that these might become available and 13% expected aggregate results only.
Opinions toward the duty to communicate research results
Most (69%) agreed that participants have to be informed about aggregate research results (Table 2). Respondents diverged in their opinion on the communication of individual results: 40% agreed that it is all right when participants do not get such information and 40% disagreed. Almost all respondents (95%) disagreed with the statement that participants must be informed about all results even when implications for health are unclear yet. Three-quarter (74%) of the sample indicated that participants only have to be informed when results have implications for treatment or prevention. Two-third (65%) agreed that participants should be contacted when continued research shows results to have clinical implications after all. Most of the respondents (91%) held the opinion that patients are not more entitled than healthy participants to receive individual results, nor do patients who contribute to their own physicians’ research as compared with patients of other physicians. According to most respondents, participants have no right to receive results based on considerations of reciprocity. Half of the respondents (48%) felt that participants themselves should organize a genetic test if they want such information. Respondents diverged in their opinion if access to results will increase society's faith in genetic research. Finally, 49% opposed against the statement that DNA-banks require a specific communication policy as compared with non-genetic biobanks, whereas 31% agreed with this statement. We found no differences in opinions between physicians and non-physicians regarding the duty to communicate research results.
Our survey reveals researchers’ opinions that might be considered when discussing the dissemination of individual research results to biobank participants. First, the results demonstrate a lack of consensus on a non-communication policy. Half of the surveyed researchers were content with a policy in which no individual results on genetic variation are disseminated. The other half disagreed, although most considered researchers only to be obliged to provide individual results in case of implications for treatment or prevention.
This divide among practicing researchers reflects the current academic debate on feeding back research findings to biobank participants.1, 2, 3, 4, 5, 14, 15 Our findings are also in line with the results of a recent study in which half of the surveyed researchers had considered the issue of returning research results, and 25% had actually done so, whereas the other half considered data too preliminary and/or unvalidated.11 Likewise, other studies among professionals reported professionals to largely, albeit not completely, agree that if research results would affect participant's health or health care,9, 10 or have established clinical validity,8 researchers are ethically obliged to inform participants. Opinions were more divided concerning such an obligation if a participant asked for results or if the researcher felt the participant might be interested.8, 9 The similarity of findings in studies from different countries suggests that researchers share common views. On the other hand, differences in opinions were found between Spanish and US researchers,8 warranting caution in generalization of study results.
Second, our results point to a considerable gap between researchers’ opinions on the one hand and (potential) participants’ opinions on the other hand. Using a comparable questionnaire, we found members of the general public and patients to show a keen interest in individual feedback, irrespective of the nature of the disease and the possibilities for prevention or cure.13 Others also found participants to express a strong desire to be informed about research results.14, 16, 17, 18 Once recruited by biobanks, participants will not always want the information they initially desired. Therefore, taking into account that participants may change their minds during the course of the study, assessing information preferences is an ongoing process. However, at least at the outset, participants’ expectations are high.19 These expectations may imply a moral obligation on the part of biobanks to consider them.1 This alludes to the ethical principle of reciprocity, which is argued to justify routinely offering certain results to research participants.2, 6 Interestingly, few of the researchers in our survey seemed to endorse this principle.
The discussion about dissemination of results was sparked particularly by the genetic component of biobanks, that is, the technical complexity and uncertain interpretation of genetic data. We found only a minority of the researchers to feel that indeed genetic biobanks need a more specific communication policy.
Researchers’ motivation to provide individualized feedback might be decreased by the fact that they seem to feel that information about individual genetic variation may (1) upset participants, (2) will not stimulate them to adopt a healthier lifestyle and (3) may cause them insurance problems. Although few data are available, first indications are that genetic information based on single-gene variants with low-risk probabilities has little impact on individuals’ anxiety or health behavior.20 With respect to insurance problems, Dutch insurance companies are rather restricted in the use of genetic information of their clients.21 Hence, researcher's skepticism of positive outcomes of individualized feedback may be justified, whereas their fear for detrimental outcomes may not.
Researchers do seem to feel a commitment to inform participants if foregoing results become clinically relevant. Given the complexity of getting in touch with individual participants, biobanks should try to anticipate on such future disclosure issues, especially in case new information could be derived that is not covered by the participants’ informed consent.
The limitations of our study lie in the difficulty of addressing the complex issues at stake in a survey, the limited size of our sample and the likely overrepresentation of researchers highly involved in biobank research. Nevertheless, we feel to have demonstrated clear differences in opinion about the feedback of individual results within the community of biobank researchers. Additionally, our results allude to a difference in opinion between researchers and those upon whom they depend, that is, the participants. Especially, the latter gap underscores the relevance of developing a policy to tackle the issue as to whether the decision about individual feedback can be left to the discretion of biobanks or whether they should leave more room for the preference of participants. Institutional Review Boards may have a key role in the development and implementation of such a policy.11, 22 Over the last years, recommendations have been developed that may offer useful guidance in this field.1
This research was funded by a grant of the Centre for Society and Genomics in The Netherlands, who in turn is funded by the Netherlands Genomics Initiative.
About this article
Journal of Community Genetics (2014)