Expert Review of Molecular Diagnostics Downloaded from informahealthcare.com by Chinese University of Hong Kong on 02/08/15 For personal use only.

Original Research

Attitudes of research participants and the general public towards genomic data sharing: a systematic literature review Expert Rev. Mol. Diagn. 14(8), 1053–1065 (2014)

Mahsa Shabani*1, Louise Bezuidenhout2,3 and Pascal Borry1 1 Department of Public Health and Primary Care, University of Leuven, Kapucijnenvoer 35 BOX 7001, B-3000 Leuven, Belgium 2 Department of Sociology, Philosophy and Anthropology, University of Exeter, Exeter, EX4 4PJ, UK 3 Steve Biko Centre for Bioethics, Faculty of Health Sciences, University of Witwatersrand, Johannesburg, 2000, South Africa *Author for correspondence: Tel.: +32 1637 9517 Fax: +32 1633 6952 [email protected]

Aim: Introducing data sharing practices into the genomic research arena has challenged the current mechanisms established to protect rights of individuals and triggered policy considerations. To inform such policy deliberations, soliciting public and research participants’ attitudes with respect to genomic data sharing is a necessity. Method: The main electronic databases were searched in order to retrieve empirical studies, investigating the attitudes of research participants and the public towards genomic data sharing through public databases. Results: In the 15 included studies, participants’ attitudes towards genomic data sharing revealed the influence of a constellation of interrelated factors, including the personal perceptions of controllability and sensitivity of data, potential risks and benefits of data sharing at individual and social level and also governance level considerations. Conclusion: This analysis indicates that future policy responses and recruitment practices should be attentive to a wide variety of concerns in order to promote both responsible and progressive research. KEYWORDS: access • data sharing • genomic research • public and research participants’ attitudes • public databases

Background

In recent years, researchers have received an impetus from funding organizations to share data generated in the course of publicly funded genomic studies. Indeed, it is widely recognized that effective data sharing and open access policies [1,2] are vital to unlock the research potentials of databases and to increase their statistical power. Sharing policies have been pioneered by large international projects such as the Human Genome Project and the International HapMap project [3] that from conception have published their results in the public domain. The establishment of public databases has further advanced genomic data sharing practices [4] through hosting and distributing results of studies investigating the interaction between genotypes and phenotypes. Preeminent examples include the database of Genotypes and Phenotypes (dbGaP) [5,6] and the European Genome-phenome Archive [7] informahealthcare.com

10.1586/14737159.2014.961917

that contain clinical information, genomic characterization data and genomic data. With the increasing number of databases, however, has come an increasing range of data sharing and privacy policies. In turn, a number of different ways are emerging through which users’ access to these databases may be managed – either through open-access mechanisms or in a controlled fashion. In the latter format, access requests to datasets are approved by the corresponding Data Access Committees. The MalariaGEN [8], the Wellcome Trust Case Control Consortium [9] and the International Cancer Genome Consortium [10] are examples of research consortia that have embarked on sharing their results through various public databases [11–13]. The process of developing and implementing these data sharing policies has challenged existing approaches to protecting the rights of research participants, and mechanisms such as informed consent have received much scrutiny.

Ó 2014 Informa UK Ltd

ISSN 1473-7159

1053

Expert Review of Molecular Diagnostics Downloaded from informahealthcare.com by Chinese University of Hong Kong on 02/08/15 For personal use only.

Original Research

Shabani, Bezuidenhout & Borry

In particular, the utility of a traditional one-off consent to inform participants about a plethora of future uses has been called into question. Alternatively, broad consent models have also raised a number of unresolved issues, particularly relating to the informational needs of research participants concerning the future research agenda, potential risks or withdrawal options [14–17]. The alleged shortcomings of a broad consent in data sharing context cast doubts on its value and have led some to question the ethical footing of genomic data sharing practices in the absence of a valid model for consent [18]. Unsurprisingly, such challenges are further amplified in the face of retrospective research uses of data, when the original consent did not encompass further research uses [19]. Further challenges have also been identified for safeguarding the privacy of research participants on the basis of the identifiability of data [20]. Indeed, the de-identifiability of genomic data has been claimed an implausible promise, given that DNA is a unique identifier. In addition, the availability of linkable reference databases such as data in health care, administrative, criminal or disaster response databases intensifies these concerns and highlights the dangers of cross-referencing data in different databases [21]. In this regard, the recent evidences of reidentifiability of data [22,23] led the National Institutes of Health (NIH) and Wellcome Trust to adjust the access policies to the aggregate and individual-level databases [24]. The challenges of protecting individual data contributions while maximizing the benefits of data sharing and reuse have been subject to considerable international policy level deliberations [25]. The Organization for Economic Cooperation and Development Principles and Guidelines for Access to Research Data from Public Funding (2007) [26], for example, were drafted in order to ‘provide broad policy recommendations to the governmental science policy and funding bodies of member countries on access to research data from public funding’. The Organization for Economic Cooperation and Development guidelines highlight the significance of respect for ‘the legal rights and legitimate interests of all stakeholders’ in view of research data sharing, including the importance of privacy and confidentiality of data on human subjects and other personal data. These principles and guidelines offer broad guidance that allow institutions and research consortia to develop detailed guidelines that cover various aspects of the governance of genomic data sharing [25,27]. In doing so, the NIH proposed a draft policy in 2006 for the sharing of data obtained in Genome-Wide Association Studies (GWAS) [28] and solicited public comments on the draft, acknowledging the importance of public input in developing the policies. The received public comments articulated considerable concerns, including those that impact the protection of research participants. To name but a few, these concerns included non-research use of data, stigmatization, informed consent, return of results and oversight and governance of the data repository, submission and access, which were ultimately summarized in the preamble of the policy and reflected in some provisions [29]. 1054

In order to ‘extend GWAS Policy to encompass data from a wider range of genomic research’, the NIH recently issued a new policy for Genomic Data Sharing after soliciting public input on the draft [30]. The Policy mandates institutions planning to submit aggregate or individual-level data to ensure research participants are informed about the ‘future research use’ of their data and ‘broad data sharing’, and also whether these data will be available to other researchers through open or controlled access. For studies performed before the effective date of this policy, the conformity of data sharing plans with the provisions of the obtained informed consent should be ensured by the responsible bodies within the data submitting institutions, such as, Institutional Review Boards. Likewise, in order to submit data to European Genome-phenome Archive, it has been asserted that ‘controlled access data’ should be defined by the original informed consent signed by the participants involved in the study [7]. Despite these developments, how ‘broad data sharing’ or ‘controlled access data’ plans should be defined in the consent forms remains a subject of discussion. Indeed, a number of researchers recognizing these issues are investigating mechanisms that could adequately fulfill the requirement of informing research participants about data sharing. Tasse´ et al. [19] investigated such mechanisms in the context of the consent experience of the ENGAGE consortium, where the participating research organizations were also encouraged to share their results with the broader scientific community. In order to meet the requirement of consent to enable reuse of the data, they identified a broad number of mechanisms that were developed by the participating research organizations such as broad consent and multilayered consent, suggesting a need to adopt a harmonized approach. In another study, Peppercorn et al. investigated the ethical challenges of submitting GWAS results to dbGaP, including the specific challenges associated with the use of older data. Consequently, they outlined the considerations to be observed by Institutional Review Boards when evaluating the consistency of data sharing plans with the wishes of research participants on the basis of their original consent [31]. In order to establish the best practices and guidelines in protecting rights of research participants in view of genomic data sharing and meeting their informational needs, it is imperative to tap into the perceptions and views of research participants and potential research participants on this matter. The importance of obtaining such input is rooted in the pivotal role of public’s contribution to genomics research, accentuating the need to accommodate their views and concerns in future policy makings [32–35], leading to responsive and progressive genomics research practices. In particular, the potential problems associated with sharing the results of genomic studies through public databases in an open or controlled fashion, as discussed above, require a clear understanding of public opinion. In order to contribute to this end, this article offers a systematic review of existing literature that included the following question in their scope of investigation: what are the public and research participants’ attitudes toward genomic data sharing through public databases? Expert Rev. Mol. Diagn. 14(8), (2014)

Methods

The systematic search was conducted in the databases of MEDLINE [PubMed], ISI Web of Science and Embase (FIGURE 1). The search string used was: (Interview odds ratios (OR) ‘focus group’ OR opinion OR attitudes OR ‘public perspective’ OR views OR survey OR questionnaire) AND (‘genetic database’ OR ‘genomic database’ OR Biobank* OR biorepository OR ‘data sharing’). The search was carried out twice by two of the authors (M Shabani and L Bezuidenhout) between 18 November 2013 and 26 November 2013 but not limited to a specific date of publication. In addition, the reference lists of selected articles have been consulted in order to retrieve additional studies.

Records identified through database searching (n = 2495) MEDLINE [PubMed] (n = 851) Web of Science (n = 723) Embase (n = 921)

Records screened (n = 1950)

Data extraction & synthesis

The included articles were analyzed independently by two authors (M Shabani and L Bezuidenhout). The study results were extracted by using an inductive approach. The results were classified in thematic categories, representing views and attitudes of research participants and potential research participants toward genomic data sharing. The categories were discussed and refined by all authors at several occasions during the analysis process. Both qualitative and quantitative findings were integrated in an overall qualitative synthesis. Results

Our systematic search identified 15 articles (TABLE 1) that satisfied the inclusion criteria of the study. The selected articles were analyzed and relevant quotes retrieved. These quotes represent general public and research participants’ expressions (PQ) along with authors’ summary quotes of results (AQ). Subsequently, the analyses of the extracted quotes led to the development of four main themes: (a) perceptions of sensitivity and controllability of genomic data, (b) pertinent benefits and (c) risks of data sharing and (d) considerations aligned with the governance of genomic data sharing. The identified themes encompass the interrelated array of factors influencing individuals’ perceptions toward genomic data sharing (FIGURE 2). informahealthcare.com

Records excluded (n = 1805) Full-text articles excluded, with reasons (n = 130) Not a qualitative or quantitative study

Eligibility

Study selection

Articles were included if they reported empirical studies (qualitative and/or quantitative), were written in English, were published in peer-reviewed journals and reported studies that investigated the perceptions and attitudes of the general public and research participants with regard to genomic data sharing in the context of public databases (through public or controlled access). After a pre-selection based on title and abstract screening, two authors independently evaluated the full texts in order to determine their suitability for inclusion. In case of disagreement, consensus was sought through discussion with the third author.

Original Research

Records after duplicates removed (n = 1950)

Full-text articles assessed for eligibility (n = 145)

Not from the general public or research participants Duplicate study Conference abstract or workshop summary Outside our research question

Included

Expert Review of Molecular Diagnostics Downloaded from informahealthcare.com by Chinese University of Hong Kong on 02/08/15 For personal use only.

Data sources

Screening

The results of this review form the basis of further discussion on the sufficiency of current mechanisms governing genomic data sharing and reveal areas requiring further consideration.

Identification

Attitudes towards genomic data sharing

Studies included (n = 15)

Research in a pediatric setting Exchange and sharing of samples

Figure 1. Flow diagram of electronic database searches.

Perceptions of sensitivity & controllability of genomic data Varying perceptions on sensitivity of data

In the studies analyzed, the respondents’ perceptions of the sensitivity of genomic data varied and encompassed many related opinions on the downstream reuse of individual data. In two studies, individuals were concerned that personal information could be mined from their genomic data: ‘I think it is the way that I am about myself. I think I’m more comfortable about myself and what people know about me. And some people could be embarrassed if it fell into the wrong hands and they could be discriminated against in some way if they’re on some file somewhere, maybe have a disability. Those are the only things I could think of from someone else’s point of view, that the information could be used against them. For me, I don’t have those sorts of issues’ (PQ) [36], while the other participant said: ‘It wouldn’t bother me, because, for one, I know scientists aren’t really, you know, looking for personal stuff (…)’ (PQ) [37]. The employment status, for instance, was mentioned as a key factor in attributing importance to sensitivity of 1055

Original Research

Shabani, Bezuidenhout & Borry

Expert Review of Molecular Diagnostics Downloaded from informahealthcare.com by Chinese University of Hong Kong on 02/08/15 For personal use only.

Table 1. List of the 15 studies addressing public and research participants’ attitudes respecting genomic data sharing. Study (year)

Design and study group

Aim

Ref.

Goddard et al. (2009)

Survey of 500 members of KPNW, an integrated healthcare delivery system

To evaluate the interest in participating in a biobank and reasons for nonparticipation

[45]

Haga and O’Daniel (2011)

10 focus groups with 100 participants (general public mainly from African-American communities)

To provide insight into concerns and expectations regarding data sharing from the potential participants perspective

[37]

Jamal et al. (2013)

Semi-structured phone interviews with 30 participants in two NIH research protocols (ClinSeq [symptomatic and healthy individuals] and WGMS)

To better understand the attitudes of research participants toward confidentiality and data sharing

[36]

Kaufman et al. (2009)

A representative survey of 4659 US adults

To assess the importance of privacy in the public’s support for and willingness to participate in the proposed national cohort study

[42]

Kaufman et al. (2009)

Survey of 931 veterans who receive Veterans Affairs health care

To provide quantitative measures of veterans’ attitudes about the GMP

[44]

Lemke et al. (2010)

6 focus group with 49 individuals (28 in 3 public focus group and 21 in 3 Nugene biorepository participant focus group)

To develop a better understanding of stakeholders’ views toward participants’ attitudes about research participation and sharing of genetic research data

[40]

Ludman et al. (2010)

Telephone survey with 400 participants who agreed to submit existing data to dbGaP

To study current research participants’ views of re-consent for data sharing

[48]

McCarty et al. (2011)

Three focus groups with members of the PMRP

To assess and compare feedback received from other communication/consultation strategies with results from focus groups discussion in relation to protocol changes of the PMRP

[47]

McGuire et al. (2008)

Three focus group sessions with 15 participants (patients and controls from a genetic study of epilepsy)

The study aims to describe research participants’ attitudes and judgments about data release and their preferences for the varying levels of control over decision-making afforded by the three presented alternative types of consent

[41]

McGuire et al. (2011)

A single-blinded, randomized controlled trial was conducted with 323 eligible adult participants being recruited into one of six genomic genome studies at Baylor College of Medicine

To assess the impact of the three presented alternative consent forms on research enrollment into an underlying genomic study and participants data sharing preferences

[38]

Oliver et al. (2012)

Structured interview with 229 eligible participants enrolled into a genome study

To explore the underlying factors influencing decisions including judgments about the risks and benefits of data sharing and issues of privacy vs data utility

[46]

Robinson et al. (2013)

Structured interview questionnaire with 229 eligible participants enrolled into a genome study

To assess research participants’ objective and subjective understandings of genomic research, including their participation in genomic research, and examine the impact of each on their recall and data sharing decision

[50]

Rahm et al. (2013)

Survey of 203 members of KPCO which is an integrated healthcare delivery system

To know what potential participants understand about the risks and benefits of providing samples in order to ensure adequate informed consent

[49]

Trinidad et al. (2010)

10 focus group sessions with 79 participants who are 1) current participants of the ACT STUDY 2) surrogate decision makers and 3) three age-defined cohorts

To explore the perceptions, beliefs and attitudes of research participants and possible future participants regarding GWAS and repository-based research

[39]

Trinidad et al. (2012)

6 focus group with 45 members of the Group Health Cooperative

To learn about the views and expectations of prospective participants for informed consent in genome-scale studies

[43]

ACT: Adults Changes in Thought; dbGaP: Database of Genotypes and Phenotypes; GMP: Genomic Medicine Program; GWAS: Genome-Wide Association Studies; KPCO: Kaiser Permanente Colorado; KPNW: Kaiser Permanente Northwest; NIH: National Institutes of Health; PMRP: Personalized Medicine Research Project.

1056

Expert Rev. Mol. Diagn. 14(8), (2014)

Attitudes towards genomic data sharing

Original Research

Perceptions of sensitivity and controllability of genomic data

• Varying views on sensitivity of data

Expert Review of Molecular Diagnostics Downloaded from informahealthcare.com by Chinese University of Hong Kong on 02/08/15 For personal use only.

• Controllability of genomic data

Personal perceptions of potential benefits

• Research advancement and maximizing value of resources • Helping others and greater good

Personal perceptions of potential risks

Public and research participants attitudes towards genomic data sharing

• Privacy, confidentiality and data security concerns • For-profit companies’ access • Objectionable research uses and discrimination

• Trust in institution and researchers • Transparency, oversight and safeguards • Consent

Governance level considerations

Figure 2. Factors influencing the public and research participants’ attitudes toward genomic data sharing.

genomic data, ‘I’m tenured, so I’m not going to lose my job – so I had said to [the genetic counselor], I’m your ideal person (...)’ (PQ) [36]. Three studies noted that these personal perceptions of sensitivity of genomic data were influenced by elements such as race, gender, age, marital status and/or educational level. For instance, as it is reported in one study: ‘Hispanic participants were significantly less likely to choose public data release compared to non-Hispanic white participants (restricted release OR: 2.94; confidence interval (CI): 1.16–7.43; no release OR: 3.94; CI: 1.05–1.76). Unmarried participants, including those who were divorced, widowed, separated or never married, were more likely to choose restricted data release (OR: 2.40; CI: 1.05–5.44). When choosing between restricted and public data release, participants with some informahealthcare.com

college or a college degree were also more likely to choose restricted data release (some college, OR: 3.52; CI: 1.02– 12.14; college graduate, OR: 4.67; CI: 1.35–16.12)’ (AQ) [38]. Also, according to Trinidad et al., participants in the focus groups with a higher mean age ‘were substantially less worried about privacy and confidentiality than other groups’ (AQ) [39]. In identifying the sensitivity of genomic data, some participants draw an analogy between genomic data and genomic databases in one hand and other personal sensitive data such as financial information and banks on the other hand. As Trinidad et al. observed ‘Some participants believed that health information would be a less attractive target for ill-intentioned individuals than other kinds of data (such as financial records or credit card information) (…)’ (AQ) [39]. 1057

Original Research

Shabani, Bezuidenhout & Borry

Expert Review of Molecular Diagnostics Downloaded from informahealthcare.com by Chinese University of Hong Kong on 02/08/15 For personal use only.

Controllability of genomic data

The extent to which genomic data could remain under the control once widely shared was discussed in six studies. In one study, maintaining control over genomic data was portrayed as a right of participants: ‘I think that, you know, some things – I just believe that people have a right to control their information. It doesn’t matter whether anything bad would happen’ (PQ) [36]. Moreover, for some participants, sharing genomic data emerged as a salient barrier over controllability of data. For instance, as it is reported in a study: ‘(…) they felt a lack of control and that the data would be shared without their input anyway’ (AQ) [40]. Other participant stated, ‘It’s out of your hands, it’s out of your control’ (PQ) [40], while yet another stated that: ‘There’s no realistic way of controlling [the data], once you share it. Let’s face it’ (PQ) [39]. Similarly, the expected level of control on genomic data varied among individuals. For instance, a research participant mentioned: ‘I would want to have some control, but not crippling control … As far as restricting it to people who had a legitimate reason to have the information, … but not so crippling that you would have to say, well, Person A can have it, but Person B can’t’ (PQ) [41]. In a number of these studies, the role of consent mechanisms in addressing concerns regarding controllability of data was further interrogated. For example, one study noted that: ‘When respondents were questioned about how being asked for consent for each study would make them feel, 81% agreed that it would make them feel ‘respected and involved’, and 74% agreed that they would feel that they ‘had control’’ (AQ) [42]. However, some models of consent perceived to fall short in meeting this need: ‘…If I was signing a broad document like that, I would understand that I was basically signing a blanket, and it would just be going wherever, and I’d have no control’ (PQ) [43]. Potential benefits of genomic data sharing Research advancement & maximizing value of resources

The benefits of data sharing were widely recognized by participants in many of the studies. The recognition of benefit often surmounted concerns about data sharing: ‘I don’t think it would affect my decision one way or the other, because it would be based on various other factors. I don’t think that would enter into it. As several people have said, the more widely this information is [shared] the better’ (PQ) [37]. Moreover, others commented, ‘It would be another reason to do it’ (PQ) [39] and ‘Oh, I think that’s the important thing that they ought to share. That’s the purpose of it’ (PQ) [37] or as Kaufman et al. reported: ‘(…) Those who were more willing to participate were also more supportive of broader access to the database by various users.’ (AQ) [44]. Genomic data sharing was also supported by the majority of respondents in the Goddard et al. study. It was observed that: ‘Of those who would contribute to the biobank, 82% would also agree to have their information posted in a US government database’ (AQ) [45]. In five studies, accelerating research advancement and maximizing the value of resources were identified as underlying 1058

reasons that tipped the balance in favor of data sharing for participants: ‘Sharing my genetic information may be just the missing piece that the researchers need to advance good health and avoid diseases, and there may be something in my information that stands out that they didn’t get in all the other people they’ve been studying’ (PQ) [46]. On some occasions, the value of sharing to expedite research progress outweighed the perceived associated risks such as privacy. According to one participant: ‘At the same time as I can see some tremendous assets to having [dbGaP], because you can really do something powerful, I think there’s always risk. In this case, I tend to think, well, with that potential of where we are in terms of understanding the genome, maybe that’s a benefit and maybe, if it’s securely regulated and actually looked after, maybe that’s a risk worth taking’ (AQ) [39]. In addition, sharing data was favored as a means to enhance the value of resources through improving the accessibility of data for researchers: ‘Most participants saw the pooling of research resources as a reasonable approach to enhancing efficiency, avoiding duplication of effort, hastening the development of outcomes that would benefit public health, and creating a reference of ‘historical value’ for future generations’ (AQ) [39]. Helping others & greater good

In five studies, sharing genomic data in order to benefit others was a reason for some participants to endorse data sharing: ‘Positive reasons they cited to share data included, ‘to help’ people who had similar health problems and ‘to contribute’ to advancements in medicine (…)’ (AQ) [47]. Others also expressed: ‘I’m just really serious about allowing the information from my illness to be used to help others down the line. That to me is the only benefit. Probably isn’t going to help me, but it may help future patients’ (PQ) [46] or ‘I think there does have to be an open exchange of information in order for some of these really significant things to happen for people’s benefit’ (PQ) [39]. Sharing genomic data to serve greater good was another underlying reason for some participants: ‘I would like to think that I am flexible enough to get it out for the greater good’ (PQ) [41] or ‘I think some very interesting things may turn up because of that. That vast amount of information has got to have some really positive effects for everybody’ (PQ) [39]. Individual perceptions of risks associated with data sharing Privacy, confidentiality & data security concerns

Respecting privacy in relation to genomic data sharing seemed a critical issue for many participants: ‘Despite their willingness to have data submitted to dbGaP, however, many participants also noted concerns about data privacy and future research uses, including the potential use of their data by for-profit entities’ (AQ) [48] or ‘A third (34.6%) selected the risk of having their identity revealed as most important, (…)’ (AQ) [46]. However, collecting data on a large scale diminished the perceived risks of identifiability for some: ‘You know, there’s something that feels more comfortable about a huge study. Expert Rev. Mol. Diagn. 14(8), (2014)

Expert Review of Molecular Diagnostics Downloaded from informahealthcare.com by Chinese University of Hong Kong on 02/08/15 For personal use only.

Attitudes towards genomic data sharing

You’re kind of lost in that huge sea of information, and it really seems like fewer risks’ (PQ) [39]. A part of these privacy concerns were linked to data security issues, as one participant indicated: ‘I just keep thinking if the entire sequence is out there, one of these days the computers are going to catch up with us and they will be able to trace it back to us’ (PQ) [41]. For some, data security issues seemed inevitable: ‘(…) We’ve all grown up realizing how nothing seems to be sacred, and how the most secure information somehow gets found and used and abused’ (PQ) [39]. In four studies, respecting confidentiality of participants was raised as a decisive factor for some: ‘In particular, discussants believed they should be informed about how research participants’ confidentiality would be protected’ (AQ) [37]. Nonetheless, others cast doubt on the possibility of treating genomic data in a confidential fashion: ‘I have to say I go back and forth on this all the time. I want to hope that if I were to join a study that was going to release my data I would be comfortable with it, because I think that ultimately that’s what’s going to happen with everybody – anonymously, obviously – and it needs to happen for genomics to progress...ultimately, you know, the way things are going... there’s going to be no point in keeping it confidential’ (PQ) [36]. It also has been indicated in course of the McCarty et al. study that the majority expressed ‘(...) that the perceived risk of loss of confidentiality would not have changed their decision to enroll’ (AQ) [47]. For-profit companies’ access

Participants in seven studies reflected on for-profit companies’ involvement in genomic data sharing. For some, sharing with commercial companies conflicted with their original purposes to participate in research: ‘Many participants expressed misgivings about sharing data with for-profit entities; in half of the sessions (A2, B1, B2, D1, D2), participants raised the issue before we asked about it. These participants often perceived a mismatch between the altruistic motivations of research participants and the fiscal goals of for-profit companies’ (AQ) [39]. On some occasions, the for-profit companies’ access to data has been criticized due to their sharing policies: ‘And like I said, these drug companies which pay so much more for the research they don’t want to share with anyone else’ (PQ) [40]. However, the necessity of for-profit companies’ involvement in advancement of genomics research was observed by some participants: ‘I don’t see how you could avoid giving this out to for-profit companies. If this study is of any use at all, they are going to have to make it available to a wide group of experimenters, and there are no wide groups of experimenters that don’t have something to do with for-profit companies’ (PQ) [39] or as Kaufman et al. report: ‘(…) and 75% would allow pharmaceutical company researchers to use their samples and information’ (AQ) [42]. Objectionable research uses & discrimination

In five studies, sharing genomic data with a broader group of researchers and for a variety of research purposes was informahealthcare.com

Original Research

highlighted as an inhibiting factor for some participants. ‘It’s a leap of faith to go from a bunch of researchers to a Federal database, and it’s not one – if I knew, I would never have signed up for that [hypothetical] study if I thought even any of that information was going to go off …’ (PQ) [39] and ‘For most participants, concerns began to arise as they considered more ‘distant’ users of the data’ (AQ) [39]. Some participants also expressed their concerns regarding future users: ‘My concern would be much less around what the research is about than where does the information go?’ (PQ) [43], ‘And who has access to it?’ (PQ) [43]. Part of the concerns regarding further uses of data were rooted in utilizing data for objectionable research purposes, as Trinidad et al. observed: ‘In some cases, the desire for re-consent was grounded in the right of the individual participant to choose what could be done with her information. For example, participants who found certain kinds of research morally objectionable (e.g., research seeking to connect race with intelligence or alcoholism) wanted to be able to opt out of such studies (…)’ (AQ) [43]. On the other occasions, the fear of utilizing data for discriminatory purposes was mentioned by individuals: ‘Because if you release your [information], and you don’t mind someone sharing your information, it could go to the insurance companies, your rates could go up’ (PQ) [37]. Therefore, to avoid discrimination risk, in one study, ‘Almost unanimously, focus group participants thought that insurance companies and employers should be excluded from obtaining data for fear of discrimination’ (AQ) [41] or as Kaufman et al. reported: ‘Nearly all respondents (93%) said that it would be somewhat or very important that it be illegal for insurers and employers to get their study information (...)’ (AQ) [42]. Governance level considerations Trust in institution & researchers

In five studies, trust in institutions and researchers was expressed as an important factor in participants’ endorsement of data sharing: ‘Trust in the institution that stored data was again paramount’ (AQ) [40]. As a participant indicated in the Lemke et al. study: ‘It shouldn’t be available to everyone but I would trust that there are people in charge of that who are looking in the right directions in terms of where that information should go and where it shouldn’t’ (PQ) [40]. Similarly, according to the Rahm et al. study: ‘(…) high willingness to participate is likely due, in part, to ‘trust’ in KPCO as their healthcare’ provider (…)’ (AQ) [49]. Conversely, this was an inhibiting factor for those who did not trust other institutions, manifesting as objections to sharing data with external bodies: ‘I did understand it was going to be shared with other researchers at Baylor, not just the primary [investigator], but it definitely was not carte blanche to distribute it to any researcher’ (PQ) [41]. Trust in the institution also often outweighed potential concerns. As Ludman et al. reported: ‘Also in common with survey responses, the trust in Group Health and ACT investigators outweighed concerns regarding privacy, data security, or fear of 1059

Original Research

Shabani, Bezuidenhout & Borry

Expert Review of Molecular Diagnostics Downloaded from informahealthcare.com by Chinese University of Hong Kong on 02/08/15 For personal use only.

discrimination’ (AQ) [48]. The effect that trust in researchers had on facilitating decision making with regard to data sharing options was investigated by Robinson et al. They noted that: ‘Compared to participants exhibiting no to low levels of trust in medical researchers, those exhibiting some to high levels of trust more often reported the decision was easy to make (…)’ (AQ) [50]. Transparency, oversight & safeguards

Lack of sufficient knowledge concerning the processes of sharing genomic data evoked concerns among research participants in seven studies. It has been reported that participants: ‘(…) wanted to know more about how the data will be shared and with whom’ (AQ) [40]. On other occasions, participants expressed their concerns regarding the lack of information on genomic data sharing: ‘Well, I guess I don’t know enough about how they want to use the information’ (PQ) [36]. Other participants raised more detailed questions and expressed their interest in obtaining further insights into those details: ‘I wouldn’t have a problem [with data sharing], as long as I knew to what extent I was being examined and by, in general, what types of individuals’ (PQ) [43]. In addition, according to Trinidad et al.: ‘(…) one participant stated that the legitimacy of proposed uses of study data ‘depends on how [the study subject] understood what was going to be done with that information’ (AQ) [43]. For many participants, trust in the ability of the original institution to carry out the oversight tasks was important: ‘Current research participants, who generally expressed altruistic motivations for research participation as well as strong trust in Group Health, were willing to rely on Group Health’s internal review processes and trusted Group Health to ‘be selective’ about granting access to outside entities’ (AQ) [39]. This trust was linked to an expectation of appropriate safeguards developed by the original institution: ‘(…) I would hope that the Group Health institution and the NIH and others would also be very aggressive about safeguards’ (PQ) [39]. In addition, having knowledge about penalties, in case of breach of protection appeared as a critical element for some: ‘I’ll tell you what I missed – the consequences, like if this was somehow released in a way that was not covered by any of these policies. What’s in place to correct that, to fix it – that’s not addressed here’ (PQ) [40]. Consent

The role of informed consent in relation to genomic data sharing was discussed from different angles by participants in nine studies. For some participants, obtaining consent regarding the process of sharing data constituted being informed and facilitated an ‘awareness of secondary uses of [..] data’ (PQ) [37]. Similarly, according to Ludman et al. study: ‘It was very important or somewhat important to the majority (n = 329, 90%) of respondents that they were asked for their permission to add their health and genetic information to the databank (…)’ (AQ) [48]. 1060

Re-consent or obtaining consent for new research purposes was discussed in some of the studies. For instance, according to Trinidad et al.: ‘Asking for additional permissions was perceived as respectful, ‘courteous,’ and ‘the right thing to do’; it was also seen as a way of keeping research subjects involved in the ongoing activities of the study’ (AQ) [43]. Likewise, a participant commented that if researchers wanted to submit study data to dbGaP: ‘The key would be that they would come and ask for your permission, If you signed up for something and it was done, then ask for permission [for sharing], and if you give your permission, then yes. But without asking, I don’t think so. I think that’s a huge ethical breach’ (PQ) [43]. On other occasions, the significance of consent was underlined by the importance of being informed about sharing models or affording options within the consent form to enable participants to show their preferences of sharing. As Haga and O’Daniel report, ‘Although many expressed that the datasharing method would have little effect on their decision to participate in a study, the vast majority of discussants believed researchers should disclose it before they consented to participate in the study’ (AQ) [37]. Discussion

The analysis of the articles in this study showed that, when considering genomic data sharing, research participants and the general public integrate personal perceptions regarding sensitivity and controllability of genomic data, perceived risks and benefits and also considerations regarding the governance of data sharing. Most of the responses analyzed seemed to share fairly similar views regarding the accrued benefits of genomic data sharing, although they may have been distinguished by context. Accordingly, public and research participants identified benefits such as enhancing the value of data, accelerating research advancement and ultimately benefiting others and serving a greater good as the driving forces to support data sharing. These seemed in concert with the underlying rationales behind the data sharing policies [51]. In contrast, interpretations of the sensitivity of genomic data and viability of associated risks were heterogeneous and strongly influenced by contextual factors. For instance, the repercussions of genomic data sharing were of higher concern among younger individuals, who related these concerns to their employment status or insurance coverage [36,39]. These findings may illuminate the relationship between individuals’ socio-economic background and their willingness toward genomic data sharing [39]. Having in-depth insights regarding these factors, genomic data sharing policies could avoid following a one-size-fits-all model to protect heterogeneous group of research participants with a variety of preferences and concerns. Nonetheless, the recognition of notable similarities, particularly in terms of benefits, may be valuable for the future global discussions in a broader context. In addition, in the course of some previous studies, a difference between hypothetical and factual preferences of the individuals has been observed. For instance, a study by Johnsson et al. Expert Rev. Mol. Diagn. 14(8), (2014)

Expert Review of Molecular Diagnostics Downloaded from informahealthcare.com by Chinese University of Hong Kong on 02/08/15 For personal use only.

Attitudes towards genomic data sharing

demonstrated higher factual willingness to participate in biobank research in 12 out of 22 pairwise comparisons may be owing to influential factors such as altruism, trust and sense of duty existing in factual donors [52]. In the current review, while no recurring pattern was observed that notably distinguishes attitudes of general public from actual research participants, one study revealed ‘even real research participants, presumed to be emotionally invested, make different judgments when responding to hypothetical versus actual choices. Participants were generally much more restrictive in their hypothetical data sharing preferences’ [46]. The associated risks of genomic data sharing were also related to a number of other issues; whereas some risks concerned individuals and their relatives’ rights, others were linked to the interests of society in large. In terms of personal concerns, fear of personal privacy breaches due to compromised data security systems provoked concern among participants in seven studies. Accordingly, in some individuals’ view, the electronic storage of genomic data and sharing through online databases enhances potential data security risks and was deemed hard to be effectively avoided if not impossible. Such privacy concerns were sometimes observed as an inherent component of modern life though, in which a wide spectrum of personal data from medical to financial are inevitably being handled electronically. In evaluating the magnitude of privacy risks coupled with sharing various types of personal data, individuals often tended to attribute a higher level of significance to financial data compared to genomic and health data. Nonetheless, the awareness of associated privacy risks did not always play an inhibiting role for individuals in the face of genomic data sharing. Indeed, the presumed benefits of genomic data sharing often outweighed participants’ potential privacy concerns. This confirms individuals hold idiosyncratic preferences of ‘privacy-utility trade-off’ [41] in view of data sharing. Heterogeneity in terms of privacy preferences may be rooted in personal perceptions of the privacy itself. This is in keeping with previous studies on public perceptions concerning the notion of genomic privacy [53–58] that highlighted self-determination, respect, confidentiality, discretion and controllability as key influencing factors. These findings demonstrate the importance of ensuring that the privacy protection policies should not be premised on a narrow and static account of privacy, which would not suit the interests of all research participants. For instance, although anonymization of genomic data and respecting confidentiality of data subjects have often been received as legitimate expectations of individuals, for some individuals these protections appeared less imperative. Additionally, as novel approaches to data sharing and data discovery are being shaped, adopting tailored models of privacy on the basis of the nature of data sharing and its scope should be considered. Furthermore, the notion of controllability of data was challenged by sharing data. The participants of the studies analyzed frequently drew attention to the possibility that unrestricted downstream usages of genomic data amplified concerns regarding the further research purposes, particularly when they informahealthcare.com

Original Research

contradicted the values and goals of research participants. Such concerns, for instance, were recently illustrated in the landmark case of Havasupai Tribe versus Arizona Board of Regents, where further reuses of samples for a different purpose raised research participants’ objection [59]. The uncertainty surrounding the breadth of the data accessible to a variety of users also provoked concerns among the public. For instance, all studies analyzed demonstrated uniform objection against the exploitation of databases by insurance companies and employers. These concerns were framed in a number of different ways, including the fear of discrimination against individuals or family members. It is important to highlight that the prevalence of these concerns contrast to the dearth of empirical evidence concerning discriminatory use of genomic data by insurance or employment companies so far [60–62]. Participants in some of the studies also had misgivings about databases being accessible to commercial parties, given the presumed incongruence between the goals of private and public bodies. Accordingly, the restrictive sharing polices often adopted by private companies were seen as at odds with the ultimate goal of data sharing polices to enlarge public good. The objections against the for-profit companies’ involvement in public-funded research infrastructures and underpinning reasons are also outlined in a number of previous studies [63–65]. In those studies, fear of bias in research agenda, data withholding under the influence of financial incentives, undermining social values such as altruistic donation and ultimately concerns about fairness in sharing benefits of research were articulated as paramount concerns among the public. Nonetheless, the involvement of private companies in research was recognized as important to boost scientific research in some studies. In this regard, collaboration between public and private bodies was viewed as essential in order to accelerate translation of research findings into medical practice. In response to this need, constructing policies that reconcile private and public bodies’ interests in the face of data sharing practices is a necessity. In order to address concerns of participants over the scope of future uses, the consent mechanism was conceived as a solution. Obtaining consent was seen both as a sign of respect to research participants and as a medium to inform them about how data will be shared and with whom. For instance, informing participants via the consent form about the permissibility of commercial parties’ access to data would allow those holding concerns regarding such use to withdraw from a research. Despite an enormous amount of attention being paid to the role of consent in research, it must be recognized that what constitutes the ‘best’ model of consent remains under discussion [66]. In this regard, the sufficiency of the current models of consent in the context of multiple research studies with genomic data has been the focus of scholarly discussions. On the one hand, a one-time broad consent as a feasible mechanism in the face of large-scale longitudinal studies retains considerable popularity, not the least because it spares researchers from a burden of re-consent for each new study when the potential risks for participants are minimal [67]. On the other hand, 1061

Expert Review of Molecular Diagnostics Downloaded from informahealthcare.com by Chinese University of Hong Kong on 02/08/15 For personal use only.

Original Research

Shabani, Bezuidenhout & Borry

others have criticized a broad consent as lacking in specificity, allegedly leaving individuals in the dark regarding the scope and nature of future research [68]. Findings of Trinidad et al. study, for instance, endorsed a need for explicit consent, highlighting the insufficiency of a broad consent model in face of the genomic data sharing practices [43]. Additionally, novel approaches to consent mechanisms to ensure its dynamism in the face of longitudinal studies have been suggested to better fulfill the preferences of research participants that may change over time. Such a model empowered by information technologies, Kaye claims, ‘…allows a more cautious and interactive relationship with participants or a dynamic consent – rather than the one off broad consent that is currently the only practical solution for many projects or biobanks’ [68]. It is worth noting that, while an appropriate consent mechanism could protect some interests and rights of participants, it might yet leave some of the identified concerns unresolved. As it is stressed in some of the studies analyzed, transparency and accountability in data sharing policies are also recognized as the contributing factors in meeting expectations of research participants. This was reflected in individuals’ interest in understanding the access agreement conditions applying to further uses, information about oversight bodies and punishments in case of breach of protections. Currently, some of the pertinent stewardship responsibilities of data holders and obligations of users are being framed within the variety of statutory and contractual provisions. Failure in complying with provisions of contractual agreements by users, for instance, sets legitimate grounds to revoke their access permissions. However, it must be noted that oversight over the enforcement of such agreements is currently poorly elaborated and implemented. This is mainly due to a distance between data access committees and data users and also the lack of adequate expertise in the data access committees to evaluate several aspects of handling data by users including secure storage and processing. Due to lack of funding or motivations, Data Access Committees, particularly in small and single studies are underdeveloped and may fall short in fulfilling the oversight duties. Further investigation is required to suggest oversight mechanisms on downstream uses of data in a way that suffice both legal and ethical imperatives. Proposing a shared model of oversight between data producing studies and users’ institutions could be a potential answer to resolve the shortcomings in the oversight on data sharing practices. In accommodating a need for sufficient oversight, participants favored adopting a balanced approach in a way not to derail genomics research. As a research participant puts it: ‘I think the key is finding the right balance between letting science and research go along and make great discoveries and not throttling them back with public policy issues. Ideally, we could kind of work them together so that science could move ahead and the Congress and other bodies could work alongside to make sure the protections are there’ [39]. Limitations

Participants in the 15 included studies were solicited to reflect on genomic data sharing issues in heterogeneous data sharing 1062

settings. Given that both quantitative and qualitative studies were included, the collected data were rather heterogeneous. Besides, selection of quotes by authors in the reference studies and their classifications inevitably impacts the analysis of quotes within the current study. The included studies elicited attitudes of public and research participants in the USA not necessarily on the basis of a representative sampling, which may vary in other contexts. Conclusion

Our study indicates that individuals’ perceptions regarding genomic data sharing are influenced by multiple factors. The majority of both public and research participants appreciate the paramount benefits underlying data sharing policies. Meanwhile, the personal perceptions of sensitivity of genomic data markedly impact their views on the magnitude of risks aligned with genomic data sharing. However, none of the perceived risks or benefits could be highlighted as the sole cause of deterring or favoring perceptions toward data sharing. As it has been shown, valuing benefits of research may outweigh risks of privacy [46]. Also, trust in the original institutions’ oversight may overcome many of the concerns regarding re-identifiability of shared data [40,48]. Needless to say, trust itself is a complex and dynamic issue, which could be easily undermined if institutions fail to meet expectations that rendered them trustworthy in the eyes of individuals [69–73]. As the Nuffield Council on Bioethics describes in the recently released document on the use of biological data: ‘Willingness to disclose personal data may depend on many things, including how sensitive people consider the data to be, the benefits they believe they or others may receive from disclosure, the perceived risks to their own interests or those of others, the level of confidence they have in how subsequent use will be governed, the level of control they may retain over the data and norms of social behavior in similar situations, among many other things’ [74]. It is therefore critical to address all factors underpinning the individuals’ perceptions and attitudes regarding data sharing and avoid overemphasizing the role of some elements at the cost of neglecting others. It follows that it is critical to consider the role of contextual elements when designing data sharing policies and guidelines, particularly when the data subjects belong to culturally divergent environments, and hold various set of values, concerns and perceptions. Additionally, introducing more clarity to the data sharing policies may offset a presumed ambivalence concerning associated risks and thus provide individuals with a fair opportunity to take an informed decision, according to their own personal risks and benefits analysis. Research with genomic data may trigger types of risks and concerns that differ considerably from research with human subjects that is associated with more physical harms, requiring employing a tailored approach in protecting rights of research participants. Nonetheless, further investigation is required to obtain insight into the expectations of individuals regarding oversight of data sharing endeavors and also to safeguard against breaches of protections. As was observed, devising stringent governance mechanisms or sweeping regulations may not necessarily meet Expert Rev. Mol. Diagn. 14(8), (2014)

Expert Review of Molecular Diagnostics Downloaded from informahealthcare.com by Chinese University of Hong Kong on 02/08/15 For personal use only.

Attitudes towards genomic data sharing

the interests of individuals [75], if it negatively impacts data sharing practices, so does advancement of research [76]. Having insight into public perceptions will be influential in ensuring that future policies are constructed in a manner responsive to needs and concerns of the public and research participants. In view of data sharing policies, genomic research will benefit from a facilitated access to the generated genotypes and phenotypes and other health-related data, and also an optimal and efficient utilization of public resource will be ensured. Nonetheless, implementing data sharing policies can alter the research data collection, storage, use and sharing practices and challenge the current governance mechanisms. Although the potential physical harms associated with contributing to large-scale genomics cohorts are deemed minimal, sharing data on a large-scale brings an array of concerns such as privacy protection to the fore. In response, international and national policies are being constructed to tackle the wide range of challenges associated with data sharing practices. In order to inform such policy developments, due attention must be paid to identify the individuals concerns in the wake of genomic data sharing. Despite the widespread attention paid to the concerns surrounding participation in research in general, data sharing concerns seem to have remained on the periphery so far. The current review sheds light

Original Research

on the key influencing factors identified within the existing empirical evidence, suggesting further investigations to construct mechanisms addressing the identified concerns. Genomic data sharing is a growing practice that has recently been endorsed and promoted by funding bodies and international collaborative projects. Introducing new practices in collection, storage, use and re-use of data to align them with the data sharing purposes would influence individuals’ perspectives toward research participation. Concurrently, perceptions of key notions such as genomic privacy may evolve along the way, entailing an ongoing assessment of the sufficiency of the current protective mechanisms. Financial & competing interests disclosure

This study is kindly funded by the Interfaculty Council for Development Co-operation (IRO) of the University of Leuven and the FP7-project 835 EUcelLEX (grant agreement no. 601806). The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties. No writing assistance was utilized in the production of this manuscript.

Key issues • Sharing genomic data through public databases may challenge the mechanisms established to protect rights of research participants. • Public and research participants’ perspectives toward genomic data sharing should be sought and adequately addressed in the course of governing genomic data sharing. • Individuals understand the potential benefits accrued via data sharing while remaining wary of the potential concerns that might endanger their personal rights or social benefits. Nevertheless, they favor genomic data sharing when they believe benefits outweigh potential risks. • Key concepts such as privacy are construed in heterogeneous ways among the public, necessitating a tailored approach to be adopted to protect privacy in the face of genomic data sharing. • Research participants and the public are concerned about the breadth of data access, as well as subsequent research purposes, suggesting de-identification of data may not resolve all the research participants’ concerns. • The role of consent mechanism addresses a number of concerns of the public and research participants in the context of genomic data sharing, including representing a sign of respect and a mechanism to maintain control on data. • Implementing robust oversight mechanisms and introducing higher transparency into the data sharing policies by the institutions will build an atmosphere conducive to building trust among the public and research participants.

References 1.

2.

3.

Report of a meeting organized by the Wellcome Trust. Sharing data from large-scale biological research projects: a system of tripartite responsibility. 14–15 January 2003; Fort Lauderdale, USA International Strategy Meeting on Human Genome Sequencing. Bermuda principles. 25–28 February 1996; Bermuda The International HapMap Project. Available from: www.hapmap.org [Last accessed 16 September 2014]

informahealthcare.com

4.

Church DM, Lappalainen I, Sneddon TP, et al. Public data archives for genomic structural variation. Nat Genet 2010;42(10): 813-14

5.

Mailman MD, Feolo M, Jin Y, et al. The NCBI dbGaP database of genotypes and phenotypes. Nat Genet 2007;39(10):1181-6

6.

The database of Genotypes and Phenotypes (dbGaP). Available from: www.ncbi.nlm. nih.gov/gap [Last accessed 16 September 2014]

7.

European Genome-phenome Archive (EGA). Available from: www.ebi.ac.uk/ega/ home [Last accessed 16 September 2014]

8.

MalariaGEN. Available from: www. malariagen.net/ [Last accessed 16 September 2014]

9.

Wellcome Trust Case Control Consortium (WTCCC). Available from: www.wtccc.org. uk/ [Last accessed 16 September 2014]

10.

International Cancer Genome Consortium (ICGC). Available from: https://icgc.org/ [Last accessed 16 September 2014]

1063

Original Research 11.

Expert Review of Molecular Diagnostics Downloaded from informahealthcare.com by Chinese University of Hong Kong on 02/08/15 For personal use only.

12.

13.

14.

Shabani, Bezuidenhout & Borry

Joly Y, Dove ES, Knoppers BM, et al. Data sharing in the post-genomic world: the experience of the International Cancer Genome Consortium (ICGC) Data Access Compliance Office (DACO). Plos Comput Biol 2012;8(7):e1002549 Manolio TA, Rodriguez LL, Brooks L, et al. New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nat Genet 2007;39(9):1045-51 Parker M, Bull SJ, de Vries J, et al. Ethical data release in genome-wide association studies in developing countries. Plos Med 2009;6(11):e1000143 Caulfield T. Biobanks and blanket consent: the proper place of the public good and public perception rationales. King’s Law J 2007;18(2):209-26

15.

Gibbons S, Kaye J, Smart A, et al. Governing genetic databases: challenges facing research regulation and practice. J Law Soc 2007;34(2):163-89

16.

Hayden EC. Informed consent: a broken contract. Nature 2012;486(7403):312-14

17.

Kaye J, Heeney C, Hawkins N, et al. Data sharing in genomics-re-shaping scientific practice. Nat Rev Genet 2009;10(5):331-5

18.

Lunshof JE, Chadwick R, Vorhaus DB, Church GM. From genetic privacy to open consent. Nat Rev Genet 2008;9(5):406-11

19.

Tasse´ AM, Budin-Ljøsne I, Knoppers BM, Harris JR. Retrospective access to data: the ENGAGE consent experience. Eur J Hum Genet 2010;18(7):741-5

20.

Kaye J. The tension between data sharing and the protection of privacy in genomics research. Ann Rev Genomics Hum Genet 2012;13:415-31

21.

Lowrance WW, Collins FS. Ethics. Identifiability in genomic research. Science 2007;317(5838):600-2

22.

Gymrek M, McGuire AL, Golan D, et al. Identifying personal genomes by surname inference. Science 2013;339(6117):321-4

23.

Homer N, Szelinger S, Redman M, et al. Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genet 2008;4(8): e1000167

24.

Church G, Heeney C, Hawkins N, et al. Public access to genome-wide data: five views on balancing research with privacy and protection. PLoS Genet 2009;5(10): e1000665

1064

25.

Dyke SO, Hubbard TJ. Developing and implementing an institute-wide data sharing policy. Genome Med 2011;3(9):60

26.

OECD. Principles and guidelines for access to research data from public funding. 2007

27.

Kaye J, Hawkins N. Data sharing policy design for consortia: challenges for sustainability. Genome Med 2014;6(1):4

28.

NIH. Request for Information (RFI): proposed policy for sharing of data obtained in NIH supported or conducted Genome-Wide Association Studies (GWAS). 2006

29.

NIH. Policy for sharing of data obtained in NIH supported or conducted Genome-Wide Association Studies (GWAS). 2007

30.

NIH. Genomic data sharing policy. 2014

31.

Peppercorn J, Shapira I, Deshields T, et al. Ethical aspects of participation in the Database of Genotypes and Phenotypes of the National Center for Biotechnology Information. Cancer 2012;118(20):5060-8

views of prospective participants. Genet Med 2010;12(8):486-95 40.

Lemke AA, Wolf WA, Hebert-Beirne J, Smith ME. Public and biobank participant attitudes toward genetic research participation and data sharing. Public Health Genomics 2010;13(6):368-77

41.

McGuire AL, Hamilton JA, Lunstroth R, et al. DNA data sharing: research participants’ perspectives. Genet Med 2008; 10(1):46-53

42.

Kaufman DJ, Murphy-Bollinger J, Scott J, Hudson KL. Public opinion about the importance of privacy in biobank research. Am J Hum Genet 2009;85(5):643-54

43.

Trinidad SB, Fullerton SM, Bares JM, et al. Informed consent in genome-scale research: what do prospective participants think? AJOB Prim Res 2012;3(3):3-11

44.

Kaufman D, Murphy J, Erby L, et al. Veterans’ attitudes regarding a database for genomic research. Genet Med 2009;11(5): 329-37

32.

Dove ES, Joly Y, Knoppers BM, et al. Power to the people: a wiki-governance model for biobanks. Genome Biol 2012; 13(5):158

45.

Goddard KA, Smith KS, Chen C, et al. Biobank recruitment: motivations for nonparticipation. Biopreserv Biobank 2009; 7(2):119-21

33.

Rotimi C, Leppert M, Matsuda I, et al. Community engagement and informed consent in the International HapMap project. Public Health Genomics 2007; 10(3):186-98

46.

Oliver JM, Slashinski MJ, Wang T, et al. Balancing the risks and benefits of genomic data sharing: genome research participants perspectives. Public Health Genomics 2011; 15(2):106-14

34.

Garland MJ. Experts and the public: a needed partnership for genetic policy. Public Underst Sci 1999;8(3):241-54

47.

35.

Gollust SE, Apse K, Fuller BP, et al. Community involvement in developing policies for genetic testing: assessing the interests and experiences of individuals affected by genetic conditions. Am J Public Health 2005;95(1):35-41

McCarty CA, Garber A, Reeser JC, Fost NC. Study newsletters, community and ethics advisory boards, and focus group discussions provide ongoing feedback for a large biobank. Am J Med Genet A 2011; 155(4):737-41

48.

Ludman EJ, Fullerton SM, Spangler L, et al. Glad you asked: participants’ opinions of re-consent for dbGap data submission. J Empir Res Hum Res 2010;5(3):9-16

49.

Rahm AK, Wrenn M, Carroll NM, Feigelson HS. Biobanking for research: a survey of patient population attitudes and understanding. J Commun Genetics 2013; 4(4):445-50

50.

McGuire AL, Oliver JM, Slashinski MJ, et al. To share or not to share: a randomized trial of consent for data sharing in genome research. Genet Med 2011;13(11):948-55

Robinson JO, Slashinski MJ, Wang T, et al. Participants recall and understanding of genomic research and large-scale data sharing. J Empir Res Hum Res 2013;8(4): 42-52

51.

Trinidad SB, Fullerton SM, Bares JM, et al. Genomic research and wide data sharing:

Foster MW, Sharp RR. Share and share alike: deciding how to distribute the scientific and social benefits of genomic data. Nat Rev Genet 2007;8(8):633-9

52.

Johnsson L, Helgesson G, Rafnar T, et al. Hypothetical and factual willingness to

36.

37.

38.

39.

Jamal L, Sapp JC, Lewis K, et al. Research participants’ attitudes towards the confidentiality of genomic sequence information. Eur J Hum Genet 2013;276: 1-5 Haga SB, O’Daniel J. Public perspectives regarding data-sharing practices in genomics research. Public Health Genomics 2011; 14(6):319-24

Expert Rev. Mol. Diagn. 14(8), (2014)

Attitudes towards genomic data sharing

participate in biobank research. Eur J Hum Genet 2010;18(11):1261-4 53.

Expert Review of Molecular Diagnostics Downloaded from informahealthcare.com by Chinese University of Hong Kong on 02/08/15 For personal use only.

54.

55.

56.

57.

58.

59.

60.

Snell K, Starkbaum J, Lauß G, et al. From protection of privacy to control of data streams: a focus group study on biobanks in the information society. Public Health Genomics 2012;15(5):293-302 Hobbs A, Starkbaum J, Gottweis U, et al. The privacy-reciprocity connection in biobanking: comparing German with UK strategies. Public Health Genomics 2012; 15(5):272-84 Ursin LØ, Steinsbekk KS. Peeking into the black box of privacy-biobank participants on the importance of recognition. Norsk epidemiologi 2012;21(2):269-76 Gaskell G, Gottweis H, Starkbaum J, et al. Publics and biobanks: pan-European diversity and the challenge of responsible innovation. Eur J Hum Genet 2013;21(1): 14-20 Godard B, Marshall J, Laberge C. Community engagement in genetic research: results of the first public consultation for the Quebec CARTaGENE project. Public Health Genomics 2007;10(3):147-58 Ridgeway JL, Han LC, Olson JE, et al. Potential bias in the bank: what distinguishes refusers, nonresponders and participants in a clinic-based biobank? Public Health Genomics 2013;16(3):118-26 Mello MM, Wolf LE. The Havasupai Indian tribe case-lessons for research involving stored biologic samples. N Engl J Med 2010;363(3):204-7 Greely HT. Banning genetic discrimination. N Engl J Med 2005;353(9):865-7

informahealthcare.com

Original Research

61.

Caulfield T, Chandrasekharan S, Joly Y, Cook-Deegan R. Harm, hype and evidence: ELSI research and policy guidance. Genome Med 2013;5(3):21

69.

Stranger M, Chalmers D, Nicol D. Capital, trust & consultation: Databanks and regulation in Australia. Crit Public Health 2005;15(4):349-58

62.

Joly Y, Feze IN, Simard J. Genetic discrimination and life insurance: a systematic review of the evidence. BMC Med 2013;11(1):25

70.

63.

Hoeyer K. Trading in cold blood? In: Dabrock P, Taupitz J, Ried J, editors. Trust in biobanking: dealing with ethical, legal and social issues in an emerging field. Volume 33. Springer Berlin Heidelberg; Berlin, Germany: 2012. p. 21-41

Fan CT, Wu C, Shi Z. Impact of development of population-based study in biomedical field on laws and regulations: a cross-strait experience on biobank development. J Int Bioethique 2008;19(4): 117-37

71.

Melas PA, Sjoholm LK, Forsner T, et al. Examining the public refusal to consent to DNA biobanking: empirical data from a Swedish population-based study. J Med Ethics 2010;36(2):93-8

72.

Kettis-Lindblad A, Ring L, Viberth E, Hansson MG. Genetic research and donation of tissue samples to biobanks. What do potential sample donors in the Swedish general public think? Eur J Public Health 2006;16(4):433-40

73.

Yarborough M, Fryer-Edwards K, Geller G, Sharp RR. Transforming the culture of biomedical research from compliance to trustworthiness: insights from nonmedical sectors. Acad Med 2009;84(4):472-7

74.

Nuffield Council on Bioethics. The linking and use of biological and health data. 2013

75.

Presidential Commission for the study of bioethical issues. Privacy and progress in whole genome sequencing. 2012

76.

Mathews DJ, Jamal L. Revisiting respect for persons in genomic research. Genes 2014; 5(1):1-12

64.

65.

Steinsbekk KS, Ursin Lo, Skolbekken JA, Solberg B. We’re not in it for the money lay peoples moral intuitions on commercial use of their biobank. Med Health Care Philos 2013;16(2):151-62 Caulfield T, Burningham S, Joly Y, et al. A review of the key issues associated with the commercialization of biobanks. J Law Biosci 2014;1(1):94-110

66.

Beskow LM, Friedman JL, Hardy NC, et al. Simplifying informed consent for biorepositories: stakeholder perspectives. Genet Med 2010;12(9):567-72

67.

Steinsbekk KS, Myskja BrK, Solberg B. Broad consent versus dynamic consent in biobank research: is passive participation an ethical problem. Eur J Hum Genet 2013; 21(9):897-902

68.

Kaye J. From single biobanks to international networks: developing e-governance. Hum Genet 2011;130(3): 377-82

1065