Attitudes of researchparticipants and the generalpublic towards genomic datasharing: a systematicliterature reviewExpert Rev. Mol. Diagn. Early online, 1–13 (2014)

Mahsa Shabani*1,Louise Bezuidenhout2,3

and Pascal Borry1

1Department of Public Health and

Primary Care, University of Leuven,

Kapucijnenvoer 35 BOX 7001,

B-3000 Leuven, Belgium2Department of Sociology, Philosophy

and Anthropology, University of Exeter,

Exeter, EX4 4PJ, UK3Steve 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

mahsa.shabani@med.kuleuven.be

Aim: Introducing data sharing practices into the genomic research arena has challenged thecurrent mechanisms established to protect rights of individuals and triggered policyconsiderations. To inform such policy deliberations, soliciting public and research participants’attitudes with respect to genomic data sharing is a necessity. Method: The main electronicdatabases were searched in order to retrieve empirical studies, investigating the attitudes ofresearch participants and the public towards genomic data sharing through public databases.Results: In the 15 included studies, participants’ attitudes towards genomic data sharingrevealed the influence of a constellation of interrelated factors, including the personalperceptions of controllability and sensitivity of data, potential risks and benefits of data sharingat individual and social level and also governance level considerations. Conclusion: This analysisindicates that future policy responses and recruitment practices should be attentive to a widevariety of concerns in order to promote both responsible and progressive research.

KEYWORDS: access • data sharing • genomic research • public and research participants’ attitudes • public databases

BackgroundIn recent years, researchers have received animpetus from funding organizations to sharedata generated in the course of publiclyfunded genomic studies. Indeed, it is widelyrecognized that effective data sharing and openaccess policies [1,2] are vital to unlock theresearch potentials of databases and to increasetheir statistical power. Sharing policies havebeen pioneered by large international projectssuch as the Human Genome Project and theInternational HapMap project [3] that fromconception have published their results in thepublic domain. The establishment of publicdatabases has further advanced genomic datasharing practices [4] through hosting and dis-tributing results of studies investigating theinteraction between genotypes and phenotypes.Preeminent examples include the database ofGenotypes and Phenotypes (dbGaP) [5,6] andthe European Genome-phenome Archive [7]

that contain clinical information, genomic char-acterization data and genomic data. With theincreasing number of databases, however, hascome an increasing range of data sharing andprivacy policies. In turn, a number of differentways are emerging through which users’ accessto these databases may be managed – eitherthrough open-access mechanisms or in a con-trolled fashion. In the latter format, accessrequests to datasets are approved by the corre-sponding Data Access Committees. The Malar-iaGEN [8], the Wellcome Trust Case ControlConsortium [9] and the International CancerGenome Consortium [10] are examples ofresearch consortia that have embarked onsharing their results through various publicdatabases [11–13].

The process of developing and implement-ing these data sharing policies has challengedexisting approaches to protecting the rights ofresearch participants, and mechanisms such asinformed consent have received much scrutiny.

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In particular, the utility of a traditional one-off consent toinform participants about a plethora of future uses has beencalled into question. Alternatively, broad consent models havealso raised a number of unresolved issues, particularly relatingto the informational needs of research participants concerningthe future research agenda, potential risks or withdrawaloptions [14–17]. The alleged shortcomings of a broad consent indata sharing context cast doubts on its value and have led someto question the ethical footing of genomic data sharing practi-ces in the absence of a valid model for consent [18]. Unsurpris-ingly, such challenges are further amplified in the face ofretrospective research uses of data, when the original consentdid not encompass further research uses [19].

Further challenges have also been identified for safeguardingthe privacy of research participants on the basis of the identifi-ability of data [20]. Indeed, the de-identifiability of genomicdata has been claimed an implausible promise, given that DNAis a unique identifier. In addition, the availability of linkablereference databases such as data in health care, administrative,criminal or disaster response databases intensifies these concernsand highlights the dangers of cross-referencing data in differentdatabases [21]. In this regard, the recent evidences of re-identifiability of data [22,23] led the National Institutes of Health(NIH) and Wellcome Trust to adjust the access policies to theaggregate and individual-level databases [24].

The challenges of protecting individual data contributionswhile maximizing the benefits of data sharing and reuse havebeen subject to considerable international policy level deliber-ations [25]. The Organization for Economic Cooperation andDevelopment Principles and Guidelines for Access to ResearchData from Public Funding (2007) [26], for example, weredrafted in order to ‘provide broad policy recommendations tothe governmental science policy and funding bodies of mem-ber countries on access to research data from public funding’.The Organization for Economic Cooperation and Develop-ment guidelines highlight the significance of respect for ‘thelegal rights and legitimate interests of all stakeholders’ in viewof research data sharing, including the importance of privacyand confidentiality of data on human subjects and other per-sonal data. These principles and guidelines offer broad guid-ance that allow institutions and research consortia to developdetailed guidelines that cover various aspects of the gover-nance of genomic data sharing [25,27]. In doing so, the NIHproposed a draft policy in 2006 for the sharing of dataobtained in Genome-Wide Association Studies (GWAS) [28]

and solicited public comments on the draft, acknowledgingthe importance of public input in developing the policies.The received public comments articulated considerable con-cerns, including those that impact the protection of researchparticipants. To name but a few, these concerns includednon-research use of data, stigmatization, informed consent,return of results and oversight and governance of the datarepository, submission and access, which were ultimately sum-marized in the preamble of the policy and reflected in someprovisions [29].

In order to ‘extend GWAS Policy to encompass data from awider range of genomic research’, the NIH recently issued anew policy for Genomic Data Sharing after soliciting publicinput on the draft [30]. The Policy mandates institutions plan-ning to submit aggregate or individual-level data to ensureresearch participants are informed about the ‘future researchuse’ of their data and ‘broad data sharing’, and also whetherthese data will be available to other researchers through openor controlled access. For studies performed before the effectivedate of this policy, the conformity of data sharing plans withthe provisions of the obtained informed consent should beensured by the responsible bodies within the data submittinginstitutions, such as, Institutional Review Boards. Likewise, inorder to submit data to European Genome-phenome Archive,it has been asserted that ‘controlled access data’ should bedefined by the original informed consent signed by the partici-pants involved in the study [7].

Despite these developments, how ‘broad data sharing’ or‘controlled access data’ plans should be defined in the consentforms remains a subject of discussion. Indeed, a number ofresearchers recognizing these issues are investigating mecha-nisms that could adequately fulfill the requirement of inform-ing research participants about data sharing. Tasse et al. [19]

investigated such mechanisms in the context of the consentexperience of the ENGAGE consortium, where the participat-ing research organizations were also encouraged to share theirresults with the broader scientific community. In order to meetthe requirement of consent to enable reuse of the data, theyidentified a broad number of mechanisms that were developedby the participating research organizations such as broad con-sent and multilayered consent, suggesting a need to adopt aharmonized approach. In another study, Peppercorn et al.investigated the ethical challenges of submitting GWAS resultsto dbGaP, including the specific challenges associated with theuse of older data. Consequently, they outlined the considera-tions to be observed by Institutional Review Boards when eval-uating the consistency of data sharing plans with the wishes ofresearch participants on the basis of their original consent [31].

In order to establish the best practices and guidelines in pro-tecting rights of research participants in view of genomic datasharing and meeting their informational needs, it is imperativeto tap into the perceptions and views of research participantsand potential research participants on this matter. The impor-tance of obtaining such input is rooted in the pivotal role ofpublic’s contribution to genomics research, accentuating theneed to accommodate their views and concerns in future policymakings [32–35], leading to responsive and progressive genomicsresearch practices. In particular, the potential problems associ-ated with sharing the results of genomic studies through publicdatabases in an open or controlled fashion, as discussed above,require a clear understanding of public opinion. In order to con-tribute to this end, this article offers a systematic review of exist-ing literature that included the following question in their scopeof investigation: what are the public and research participants’attitudes toward genomic data sharing through public databases?

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

MethodsData sources

The systematic search was conducted in the databases of MED-LINE [PubMed], ISI Web of Science and Embase (FIGURE 1). Thesearch string used was: (Interview odds ratios (OR) ‘focus group’OR opinion OR attitudes OR ‘public perspective’ OR viewsOR survey OR questionnaire) AND (‘genetic database’ OR‘genomic database’ OR Biobank* OR biorepository OR ‘datasharing’). The search was carried out twice by two of the authors(M Shabani and L Bezuidenhout) between 18 November2013 and 26 November 2013 but not limited to a specific dateof publication. In addition, the reference lists of selected articleshave been consulted in order to retrieve additional studies.

Study selection

Articles were included if they reported empirical studies (qualita-tive and/or quantitative), were written in English, were pub-lished in peer-reviewed journals and reported studies thatinvestigated the perceptions and attitudes of the general publicand research participants with regard to genomic data sharing inthe context of public databases (through public or controlledaccess). After a pre-selection based on title and abstract screen-ing, two authors independently evaluated the full texts in orderto determine their suitability for inclusion. In case of disagree-ment, consensus was sought through discussion with the thirdauthor.

Data extraction & synthesis

The included articles were analyzed independently by twoauthors (M Shabani and L Bezuidenhout). The study resultswere extracted by using an inductive approach. The resultswere classified in thematic categories, representing views andattitudes of research participants and potential research partici-pants toward genomic data sharing. The categories were dis-cussed and refined by all authors at several occasions duringthe analysis process. Both qualitative and quantitative findingswere integrated in an overall qualitative synthesis.

ResultsOur systematic search identified 15 articles (TABLE 1) that satisfiedthe inclusion criteria of the study. The selected articles wereanalyzed and relevant quotes retrieved. These quotes representgeneral public and research participants’ expressions (PQ) alongwith authors’ summary quotes of results (AQ). Subsequently,the analyses of the extracted quotes led to the development offour main themes: (a) perceptions of sensitivity and controlla-bility of genomic data, (b) pertinent benefits and (c) risks ofdata sharing and (d) considerations aligned with the governanceof genomic data sharing. The identified themes encompass theinterrelated array of factors influencing individuals’ perceptionstoward genomic data sharing (FIGURE 2).

Perceptions of sensitivity & controllability of genomic data

Varying perceptions on sensitivity of data

In the studies analyzed, the respondents’ perceptions of the sen-sitivity of genomic data varied and encompassed many relatedopinions on the downstream reuse of individual data. In twostudies, individuals were concerned that personal informationcould be mined from their genomic data: ‘I think it is the waythat I am about myself. I think I’m more comfortable aboutmyself and what people know about me. And some peoplecould be embarrassed if it fell into the wrong hands and theycould be discriminated against in some way if they’re on somefile somewhere, maybe have a disability. Those are the onlythings I could think of from someone else’s point of view, thatthe information could be used against them. For me, I don’thave those sorts of issues’ (PQ) [36], while the other participantsaid: ‘It wouldn’t bother me, because, for one, I know scientistsaren’t really, you know, looking for personal stuff (…)’(PQ) [37]. The employment status, for instance, was mentionedas a key factor in attributing importance to sensitivity of

Records identified throughdatabase searching (n = 2495)

Web of Science (n = 723)

MEDLINE [PubMed] (n = 851)

Embase (n = 921)

Records after duplicates removed(n = 1950)

Records excluded(n = 1805)

Records screened(n = 1950)

Full-text articlesassessed for eligibility

(n = 145)

Studies included(n = 15)

Full-text articlesexcluded, with reasons

(n = 130)

Exchange and sharingof samples

Not a qualitative orquantitative study

Not from the generalpublic or researchparticipants

Duplicate study

Conference abstract orworkshop summary

Outside our researchquestion

Research in a pediatricsetting

Iden

tific

atio

nS

cree

ning

Elig

ibili

tyIn

clud

ed

Figure 1. Flow diagram of electronic database searches.

Attitudes towards genomic data sharing Original Research

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Table 1. List of the 15 studies addressing public and research participants’ attitudes respecting genomicdata 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 supportfor 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’ attitudesand 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.

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genomic data, ‘I’m tenured, so I’m not going to lose myjob – so I had said to [the genetic counselor], I’m your idealperson (...)’ (PQ) [36].

Three studies noted that these personal perceptions of sen-sitivity of genomic data were influenced by elements such asrace, gender, age, marital status and/or educational level. Forinstance, as it is reported in one study: ‘Hispanic participantswere significantly less likely to choose public data releasecompared to non-Hispanic white participants (restrictedrelease OR: 2.94; confidence interval (CI): 1.16–7.43; norelease OR: 3.94; CI: 1.05–1.76). Unmarried participants,including those who were divorced, widowed, separated ornever married, were more likely to choose restricted datarelease (OR: 2.40; CI: 1.05–5.44). When choosing betweenrestricted and public data release, participants with some

college or a college degree were also more likely to chooserestricted 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 inthe focus groups with a higher mean age ‘were substantiallyless worried about privacy and confidentiality than othergroups’ (AQ) [39].

In identifying the sensitivity of genomic data, some partici-pants draw an analogy between genomic data and genomicdatabases in one hand and other personal sensitive data such asfinancial information and banks on the other hand. AsTrinidad et al. observed ‘Some participants believed that healthinformation would be a less attractive target for ill-intentionedindividuals than other kinds of data (such as financial recordsor credit card information) (…)’ (AQ) [39].

Personal perceptionsof potential risks

Perceptions of sensitivity and controllability of genomic data

Personal perceptionsof potential benefits

• Research advancement and maximizing value of resources

Public and researchparticipants

attitudes towardsgenomic data

sharing

• Trust in institution and researchers

• Privacy, confidentiality and data security concerns

Governance levelconsiderations

• Varying views on sensitivity of data

• Controllability of genomic data

• Helping others and greater good

• Consent

• Transparency, oversight and safeguards

• Objectionable research uses and discrimination

• For-profit companies’ access

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

Attitudes towards genomic data sharing Original Research

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Controllability of genomic data

The extent to which genomic data could remain under the con-trol once widely shared was discussed in six studies. In onestudy, maintaining control over genomic data was portrayed as aright of participants: ‘I think that, you know, some things – Ijust 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 genomicdata emerged as a salient barrier over controllability of data. Forinstance, as it is reported in a study: ‘(…) they felt a lack of con-trol and that the data would be shared without their input any-way’ (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 youshare it. Let’s face it’ (PQ) [39]. Similarly, the expected level ofcontrol on genomic data varied among individuals. For instance,a research participant mentioned: ‘I would want to have somecontrol, but not crippling control … As far as restricting it topeople who had a legitimate reason to have the information, …but not so crippling that you would have to say, well, Person Acan have it, but Person B can’t’ (PQ) [41].

In a number of these studies, the role of consent mecha-nisms in addressing concerns regarding controllability of datawas further interrogated. For example, one study noted that:‘When respondents were questioned about how being asked forconsent for each study would make them feel, 81% agreed thatit 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 inmeeting this need: ‘…If I was signing a broad document likethat, 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 partici-pants in many of the studies. The recognition of benefit oftensurmounted concerns about data sharing: ‘I don’t think it wouldaffect my decision one way or the other, because it would bebased on various other factors. I don’t think that would enterinto it. As several people have said, the more widely this infor-mation is [shared] the better’ (PQ) [37]. Moreover, others com-mented, ‘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 alsomore supportive of broader access to the database by varioususers.’ (AQ) [44]. Genomic data sharing was also supported bythe majority of respondents in the Goddard et al. study. It wasobserved that: ‘Of those who would contribute to the biobank,82% would also agree to have their information posted in a USgovernment database’ (AQ) [45].

In five studies, accelerating research advancement and maxi-mizing the value of resources were identified as underlying

reasons that tipped the balance in favor of data sharing for par-ticipants: ‘Sharing my genetic information may be just themissing piece that the researchers need to advance good healthand avoid diseases, and there may be something in my infor-mation that stands out that they didn’t get in all the other peo-ple they’ve been studying’ (PQ) [46].

On some occasions, the value of sharing to expedite researchprogress outweighed the perceived associated risks such as pri-vacy. According to one participant: ‘At the same time as I cansee some tremendous assets to having [dbGaP], because youcan really do something powerful, I think there’s always risk.In this case, I tend to think, well, with that potential of wherewe are in terms of understanding the genome, maybe that’s abenefit and maybe, if it’s securely regulated and actually lookedafter, maybe that’s a risk worth taking’ (AQ) [39].

In addition, sharing data was favored as a means to enhancethe value of resources through improving the accessibility ofdata for researchers: ‘Most participants saw the pooling ofresearch resources as a reasonable approach to enhancing effi-ciency, avoiding duplication of effort, hastening the develop-ment of outcomes that would benefit public health, and creatinga reference of ‘historical value’ for future generations’ (AQ) [39].

Helping others & greater good

In five studies, sharing genomic data in order to benefit otherswas a reason for some participants to endorse data sharing:‘Positive reasons they cited to share data included, ‘to help’ peo-ple who had similar health problems and ‘to contribute’ toadvancements in medicine (…)’ (AQ) [47]. Others alsoexpressed: ‘I’m just really serious about allowing the informationfrom my illness to be used to help others down the line. That tome is the only benefit. Probably isn’t going to help me, but itmay help future patients’ (PQ) [46] or ‘I think there does have tobe an open exchange of information in order for some of thesereally significant things to happen for people’s benefit’ (PQ) [39].

Sharing genomic data to serve greater good was anotherunderlying reason for some participants: ‘I would like to thinkthat I am flexible enough to get it out for the greater good’(PQ) [41] or ‘I think some very interesting things may turn upbecause of that. That vast amount of information has got tohave 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 seemeda critical issue for many participants: ‘Despite their willingnessto have data submitted to dbGaP, however, many participantsalso noted concerns about data privacy and future researchuses, including the potential use of their data by for-profitentities’ (AQ) [48] or ‘A third (34.6%) selected the risk of hav-ing their identity revealed as most important, (…)’ (AQ) [46].However, collecting data on a large scale diminished the per-ceived risks of identifiability for some: ‘You know, there’ssomething that feels more comfortable about a huge study.

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You’re kind of lost in that huge sea of information, and itreally seems like fewer risks’ (PQ) [39].

A part of these privacy concerns were linked to data securityissues, as one participant indicated: ‘I just keep thinking if theentire sequence is out there, one of these days the computersare going to catch up with us and they will be able to trace itback to us’ (PQ) [41]. For some, data security issues seemedinevitable: ‘(…) We’ve all grown up realizing how nothingseems to be sacred, and how the most secure informationsomehow gets found and used and abused’ (PQ) [39].

In four studies, respecting confidentiality of participants wasraised as a decisive factor for some: ‘In particular, discussantsbelieved they should be informed about how research partic-ipants’ confidentiality would be protected’ (AQ) [37]. Nonethe-less, others cast doubt on the possibility of treating genomicdata in a confidential fashion: ‘I have to say I go back andforth on this all the time. I want to hope that if I were to joina study that was going to release my data I would be comfort-able with it, because I think that ultimately that’s what’s goingto happen with everybody – anonymously, obviously – and itneeds to happen for genomics to progress...ultimately, youknow, the way things are going... there’s going to be no pointin keeping it confidential’ (PQ) [36]. It also has been indicatedin course of the McCarty et al. study that the majorityexpressed ‘(...) that the perceived risk of loss of confidentialitywould 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 withcommercial companies conflicted with their original purposesto participate in research: ‘Many participants expressed misgiv-ings about sharing data with for-profit entities; in half of thesessions (A2, B1, B2, D1, D2), participants raised the issuebefore we asked about it. These participants often perceived amismatch between the altruistic motivations of research partici-pants and the fiscal goals of for-profit companies’ (AQ) [39].

On some occasions, the for-profit companies’ access to datahas been criticized due to their sharing policies: ‘And like Isaid, these drug companies which pay so much more for theresearch they don’t want to share with anyone else’ (PQ) [40].However, the necessity of for-profit companies’ involvement inadvancement of genomics research was observed by some par-ticipants: ‘I don’t see how you could avoid giving this out tofor-profit companies. If this study is of any use at all, they aregoing to have to make it available to a wide group of experi-menters, and there are no wide groups of experimenters thatdon’t have something to do with for-profit companies’(PQ) [39] or as Kaufman et al. report: ‘(…) and 75% wouldallow pharmaceutical company researchers to use their samplesand information’ (AQ) [42].

Objectionable research uses & discrimination

In five studies, sharing genomic data with a broader group ofresearchers and for a variety of research purposes was

highlighted as an inhibiting factor for some participants. ‘It’s aleap of faith to go from a bunch of researchers to a Federaldatabase, and it’s not one – if I knew, I would never havesigned up for that [hypothetical] study if I thought even any ofthat information was going to go off …’ (PQ) [39] and ‘Formost participants, concerns began to arise as they consideredmore ‘distant’ users of the data’ (AQ) [39].

Some participants also expressed their concerns regardingfuture users: ‘My concern would be much less around what theresearch is about than where does the information go?’(PQ) [43], ‘And who has access to it?’ (PQ) [43]. Part of the con-cerns regarding further uses of data were rooted in utilizing datafor objectionable research purposes, as Trinidad et al. observed:‘In some cases, the desire for re-consent was grounded in theright of the individual participant to choose what could be donewith her information. For example, participants who found cer-tain kinds of research morally objectionable (e.g., research seek-ing to connect race with intelligence or alcoholism) wanted tobe able to opt out of such studies (…)’ (AQ) [43].

On the other occasions, the fear of utilizing data for discrim-inatory purposes was mentioned by individuals: ‘Because if yourelease your [information], and you don’t mind someone shar-ing your information, it could go to the insurance companies,your rates could go up’ (PQ) [37]. Therefore, to avoid discrimi-nation risk, in one study, ‘Almost unanimously, focus groupparticipants thought that insurance companies and employersshould be excluded from obtaining data for fear of discrimi-nation’ (AQ) [41] or as Kaufman et al. reported: ‘Nearly allrespondents (93%) said that it would be somewhat or veryimportant that it be illegal for insurers and employers to gettheir study information (...)’ (AQ) [42].

Governance level considerations

Trust in institution & researchers

In five studies, trust in institutions and researchers wasexpressed as an important factor in participants’ endorsementof data sharing: ‘Trust in the institution that stored data wasagain paramount’ (AQ) [40]. As a participant indicated in theLemke et al. study: ‘It shouldn’t be available to everyone but Iwould trust that there are people in charge of that who arelooking in the right directions in terms of where that informa-tion should go and where it shouldn’t’ (PQ) [40]. Similarly,according to the Rahm et al. study: ‘(…) high willingness toparticipate is likely due, in part, to ‘trust’ in KPCO as theirhealthcare’ provider(…)’ (AQ) [49].

Conversely, this was an inhibiting factor for those who didnot trust other institutions, manifesting as objections to sharingdata with external bodies: ‘I did understand it was going to beshared with other researchers at Baylor, not just the primary[investigator], but it definitely was not carte blanche to distrib-ute it to any researcher’ (PQ) [41].

Trust in the institution also often outweighed potential con-cerns. As Ludman et al. reported: ‘Also in common with surveyresponses, the trust in Group Health and ACT investigatorsoutweighed concerns regarding privacy, data security, or fear of

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

Transparency, oversight & safeguards

Lack of sufficient knowledge concerning the processes of shar-ing genomic data evoked concerns among research participantsin seven studies. It has been reported that participants: ‘(…)wanted to know more about how the data will be shared andwith whom’ (AQ) [40]. On other occasions, participantsexpressed their concerns regarding the lack of information ongenomic data sharing: ‘Well, I guess I don’t know enoughabout how they want to use the information’ (PQ) [36].

Other participants raised more detailed questions andexpressed their interest in obtaining further insights into thosedetails: ‘I wouldn’t have a problem [with data sharing], as longas I knew to what extent I was being examined and by, in gen-eral, what types of individuals’ (PQ) [43]. In addition, accordingto Trinidad et al.: ‘(…) one participant stated that the legiti-macy of proposed uses of study data ‘depends on how [thestudy subject] understood what was going to be done with thatinformation’ (AQ) [43].

For many participants, trust in the ability of the originalinstitution to carry out the oversight tasks was important:‘Current research participants, who generally expressed altruisticmotivations for research participation as well as strong trust inGroup Health, were willing to rely on Group Health’s internalreview processes and trusted Group Health to ‘be selective’about granting access to outside entities’ (AQ) [39]. This trustwas linked to an expectation of appropriate safeguards devel-oped by the original institution: ‘(…) I would hope that theGroup Health institution and the NIH and others would alsobe very aggressive about safeguards’ (PQ) [39].

In addition, having knowledge about penalties, in case ofbreach of protection appeared as a critical element for some:‘I’ll tell you what I missed – the consequences, like if this wassomehow released in a way that was not covered by any ofthese policies. What’s in place to correct that, to fix it – that’snot addressed here’ (PQ) [40].

Consent

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

Re-consent or obtaining consent for new research purposeswas discussed in some of the studies. For instance, according toTrinidad et al.: ‘Asking for additional permissions was per-ceived as respectful, ‘courteous,’ and ‘the right thing to do’; itwas also seen as a way of keeping research subjects involved inthe ongoing activities of the study’ (AQ) [43]. Likewise, a partic-ipant commented that if researchers wanted to submit studydata to dbGaP: ‘The key would be that they would come andask for your permission, If you signed up for something and itwas done, then ask for permission [for sharing], and if you giveyour permission, then yes. But without asking, I don’t thinkso. I think that’s a huge ethical breach’ (PQ) [43].

On other occasions, the significance of consent was under-lined by the importance of being informed about sharing mod-els or affording options within the consent form to enableparticipants to show their preferences of sharing. As Haga andO’Daniel report, ‘Although many expressed that the data-sharing method would have little effect on their decision toparticipate in a study, the vast majority of discussants believedresearchers should disclose it before they consented to partici-pate in the study’ (AQ) [37].

DiscussionThe analysis of the articles in this study showed that, whenconsidering genomic data sharing, research participants and thegeneral public integrate personal perceptions regarding sensitiv-ity and controllability of genomic data, perceived risks and ben-efits and also considerations regarding the governance ofdata sharing.

Most of the responses analyzed seemed to share fairly similarviews regarding the accrued benefits of genomic data sharing,although they may have been distinguished by context. Accord-ingly, public and research participants identified benefits suchas enhancing the value of data, accelerating research advance-ment and ultimately benefiting others and serving a greatergood as the driving forces to support data sharing. Theseseemed in concert with the underlying rationales behind thedata sharing policies [51]. In contrast, interpretations of the sen-sitivity of genomic data and viability of associated risks wereheterogeneous and strongly influenced by contextual factors.For instance, the repercussions of genomic data sharing were ofhigher concern among younger individuals, who related theseconcerns to their employment status or insurance coverage [36,39].These findings may illuminate the relationship between individ-uals’ socio-economic background and their willingness towardgenomic data sharing [39]. Having in-depth insights regardingthese factors, genomic data sharing policies could avoid follow-ing a one-size-fits-all model to protect heterogeneous group ofresearch participants with a variety of preferences and concerns.Nonetheless, the recognition of notable similarities, particularlyin terms of benefits, may be valuable for the future global dis-cussions in a broader context.

In addition, in the course of some previous studies, a differ-ence between hypothetical and factual preferences of the individ-uals has been observed. For instance, a study by Johnsson et al.

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demonstrated higher factual willingness to participate in biobankresearch in 12 out of 22 pairwise comparisons may be owing toinfluential factors such as altruism, trust and sense of duty exist-ing in factual donors [52]. In the current review, while no recur-ring pattern was observed that notably distinguishes attitudesof general public from actual research participants, one studyrevealed ‘even real research participants, presumed to beemotionally invested, make different judgments when respond-ing to hypothetical versus actual choices. Participants were gen-erally much more restrictive in their hypothetical data sharingpreferences’ [46].

The associated risks of genomic data sharing were alsorelated to a number of other issues; whereas some risks con-cerned individuals and their relatives’ rights, others were linkedto the interests of society in large. In terms of personal con-cerns, fear of personal privacy breaches due to compromiseddata security systems provoked concern among participants inseven studies. Accordingly, in some individuals’ view, the elec-tronic storage of genomic data and sharing through onlinedatabases enhances potential data security risks and was deemedhard to be effectively avoided if not impossible. Such privacyconcerns were sometimes observed as an inherent componentof modern life though, in which a wide spectrum of personaldata from medical to financial are inevitably being handledelectronically. In evaluating the magnitude of privacy risks cou-pled with sharing various types of personal data, individualsoften tended to attribute a higher level of significance to finan-cial data compared to genomic and health data.

Nonetheless, the awareness of associated privacy risks did notalways play an inhibiting role for individuals in the face of geno-mic data sharing. Indeed, the presumed benefits of genomicdata sharing often outweighed participants’ potential privacyconcerns. This confirms individuals hold idiosyncratic preferen-ces of ‘privacy-utility trade-off’ [41] in view of data sharing. Het-erogeneity in terms of privacy preferences may be rooted inpersonal perceptions of the privacy itself. This is in keeping withprevious studies on public perceptions concerning the notion ofgenomic privacy [53–58] that highlighted self-determination,respect, confidentiality, discretion and controllability as keyinfluencing factors. These findings demonstrate the importanceof ensuring that the privacy protection policies should not bepremised on a narrow and static account of privacy, whichwould not suit the interests of all research participants. Forinstance, although anonymization of genomic data and respect-ing confidentiality of data subjects have often been received aslegitimate expectations of individuals, for some individuals theseprotections appeared less imperative. Additionally, as novelapproaches to data sharing and data discovery are being shaped,adopting tailored models of privacy on the basis of the nature ofdata sharing and its scope should be considered.

Furthermore, the notion of controllability of data was chal-lenged by sharing data. The participants of the studies analyzedfrequently drew attention to the possibility that unrestricteddownstream usages of genomic data amplified concerns regard-ing the further research purposes, particularly when they

contradicted the values and goals of research participants. Suchconcerns, for instance, were recently illustrated in the landmarkcase of Havasupai Tribe versus Arizona Board of Regents,where further reuses of samples for a different purpose raisedresearch participants’ objection [59]. The uncertainty surround-ing the breadth of the data accessible to a variety of users alsoprovoked concerns among the public. For instance, all studiesanalyzed demonstrated uniform objection against the exploita-tion of databases by insurance companies and employers. Theseconcerns were framed in a number of different ways, includingthe fear of discrimination against individuals or family mem-bers. It is important to highlight that the prevalence of theseconcerns contrast to the dearth of empirical evidence concern-ing discriminatory use of genomic data by insurance oremployment companies so far [60–62].

Participants in some of the studies also had misgivings aboutdatabases being accessible to commercial parties, given the pre-sumed incongruence between the goals of private and publicbodies. Accordingly, the restrictive sharing polices oftenadopted by private companies were seen as at odds with theultimate goal of data sharing polices to enlarge public good.The objections against the for-profit companies’ involvement inpublic-funded research infrastructures and underpinning rea-sons are also outlined in a number of previous studies [63–65].In those studies, fear of bias in research agenda, data withhold-ing under the influence of financial incentives, underminingsocial values such as altruistic donation and ultimately concernsabout fairness in sharing benefits of research were articulated asparamount concerns among the public. Nonetheless, theinvolvement of private companies in research was recognized asimportant to boost scientific research in some studies. In thisregard, collaboration between public and private bodies wasviewed as essential in order to accelerate translation of researchfindings into medical practice. In response to this need, con-structing policies that reconcile private and public bodies’ inter-ests in the face of data sharing practices is a necessity.

In order to address concerns of participants over the scopeof future uses, the consent mechanism was conceived as a solu-tion. Obtaining consent was seen both as a sign of respect toresearch participants and as a medium to inform them abouthow data will be shared and with whom. For instance, inform-ing participants via the consent form about the permissibilityof commercial parties’ access to data would allow those holdingconcerns regarding such use to withdraw from a research.Despite an enormous amount of attention being paid to therole of consent in research, it must be recognized that whatconstitutes the ‘best’ model of consent remains under discus-sion [66]. In this regard, the sufficiency of the current models ofconsent in the context of multiple research studies with geno-mic data has been the focus of scholarly discussions. On theone hand, a one-time broad consent as a feasible mechanism inthe face of large-scale longitudinal studies retains considerablepopularity, not the least because it spares researchers from aburden of re-consent for each new study when the potentialrisks for participants are minimal [67]. On the other hand,

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others have criticized a broad consent as lacking in specificity,allegedly leaving individuals in the dark regarding the scopeand 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 faceof the genomic data sharing practices [43]. Additionally, novelapproaches to consent mechanisms to ensure its dynamism inthe face of longitudinal studies have been suggested to betterfulfill the preferences of research participants that may changeover time. Such a model empowered by information technolo-gies, Kaye claims, ‘…allows a more cautious and interactiverelationship with participants or a dynamic consent – ratherthan the one off broad consent that is currently the only practi-cal solution for many projects or biobanks’ [68].

It is worth noting that, while an appropriate consent mecha-nism could protect some interests and rights of participants, itmight yet leave some of the identified concerns unresolved. As itis stressed in some of the studies analyzed, transparency andaccountability in data sharing policies are also recognized as thecontributing factors in meeting expectations of research partici-pants. This was reflected in individuals’ interest in understandingthe access agreement conditions applying to further uses, infor-mation about oversight bodies and punishments in case of breachof protections. Currently, some of the pertinent stewardshipresponsibilities of data holders and obligations of users are beingframed within the variety of statutory and contractual provisions.Failure in complying with provisions of contractual agreementsby users, for instance, sets legitimate grounds to revoke theiraccess permissions. However, it must be noted that oversightover the enforcement of such agreements is currently poorly elab-orated and implemented. This is mainly due to a distancebetween data access committees and data users and also the lackof adequate expertise in the data access committees to evaluateseveral aspects of handling data by users including secure storageand processing. Due to lack of funding or motivations, DataAccess Committees, particularly in small and single studies areunderdeveloped and may fall short in fulfilling the oversightduties. Further investigation is required to suggest oversightmechanisms on downstream uses of data in a way that sufficeboth legal and ethical imperatives. Proposing a shared model ofoversight between data producing studies and users’ institutionscould be a potential answer to resolve the shortcomings in theoversight on data sharing practices. In accommodating a need forsufficient oversight, participants favored adopting a balancedapproach in a way not to derail genomics research. As a researchparticipant puts it: ‘I think the key is finding the right balancebetween letting science and research go along and make great dis-coveries and not throttling them back with public policy issues.Ideally, we could kind of work them together so that sciencecould move ahead and the Congress and other bodies could workalongside to make sure the protections are there’ [39].

LimitationsParticipants in the 15 included studies were solicited to reflect ongenomic data sharing issues in heterogeneous data sharing

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

ConclusionOur study indicates that individuals’ perceptions regardinggenomic data sharing are influenced by multiple factors. Themajority of both public and research participants appreciate theparamount benefits underlying data sharing policies. Mean-while, the personal perceptions of sensitivity of genomic datamarkedly impact their views on the magnitude of risks alignedwith genomic data sharing. However, none of the perceivedrisks or benefits could be highlighted as the sole cause of deter-ring or favoring perceptions toward data sharing. As it hasbeen shown, valuing benefits of research may outweigh risks ofprivacy [46]. Also, trust in the original institutions’ oversightmay overcome many of the concerns regarding re-identifiabilityof shared data [40,48]. Needless to say, trust itself is a complexand dynamic issue, which could be easily undermined if insti-tutions fail to meet expectations that rendered them trustwor-thy in the eyes of individuals [69–73]. As the Nuffield Councilon Bioethics describes in the recently released document on theuse of biological data: ‘Willingness to disclose personal datamay depend on many things, including how sensitive peopleconsider the data to be, the benefits they believe they or othersmay receive from disclosure, the perceived risks to their owninterests or those of others, the level of confidence they have inhow subsequent use will be governed, the level of control theymay retain over the data and norms of social behavior in simi-lar situations, among many other things’ [74].

It is therefore critical to address all factors underpinning theindividuals’ perceptions and attitudes regarding data sharing andavoid overemphasizing the role of some elements at the cost ofneglecting others. It follows that it is critical to consider the roleof contextual elements when designing data sharing policies andguidelines, particularly when the data subjects belong to cultur-ally divergent environments, and hold various set of values, con-cerns and perceptions. Additionally, introducing more clarity tothe data sharing policies may offset a presumed ambivalenceconcerning associated risks and thus provide individuals with afair opportunity to take an informed decision, according to theirown personal risks and benefits analysis. Research with genomicdata may trigger types of risks and concerns that differ consider-ably from research with human subjects that is associated withmore physical harms, requiring employing a tailored approachin protecting rights of research participants.

Nonetheless, further investigation is required to obtaininsight into the expectations of individuals regarding oversightof data sharing endeavors and also to safeguard against breachesof protections. As was observed, devising stringent governancemechanisms or sweeping regulations may not necessarily meet

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the interests of individuals [75], if it negatively impacts datasharing practices, so does advancement of research [76]. Havinginsight into public perceptions will be influential in ensuringthat future policies are constructed in a manner responsive toneeds and concerns of the public and research participants.

In view of data sharing policies, genomic research will benefitfrom a facilitated access to the generated genotypes and pheno-types and other health-related data, and also an optimal and effi-cient utilization of public resource will be ensured. Nonetheless,implementing data sharing policies can alter the research datacollection, storage, use and sharing practices and challenge thecurrent governance mechanisms. Although the potential physicalharms associated with contributing to large-scale genomicscohorts are deemed minimal, sharing data on a large-scale bringsan array of concerns such as privacy protection to the fore. Inresponse, international and national policies are being con-structed to tackle the wide range of challenges associated withdata sharing practices. In order to inform such policy develop-ments, due attention must be paid to identify the individualsconcerns in the wake of genomic data sharing. Despite the wide-spread attention paid to the concerns surrounding participationin research in general, data sharing concerns seem to haveremained on the periphery so far. The current review sheds light

on the key influencing factors identified within the existingempirical evidence, suggesting further investigations to constructmechanisms addressing the identified concerns.

Genomic data sharing is a growing practice that has recentlybeen endorsed and promoted by funding bodies and interna-tional collaborative projects. Introducing new practices in col-lection, storage, use and re-use of data to align them with thedata sharing purposes would influence individuals’ perspectivestoward research participation. Concurrently, perceptions of keynotions such as genomic privacy may evolve along the way,entailing an ongoing assessment of the sufficiency of the cur-rent 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. 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

2. International Strategy Meeting on Human

Genome Sequencing. Bermuda principles.

25 – 28 February 1996; Bermuda

3. The International HapMap Project.

Available from: www.hapmap.org [Last

accessed 16 Sept 2014]

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 Sept 2014]

7. European Genome-phenome Archive

(EGA). Available from: www.ebi.ac.uk/ega/

home [Last accessed 16 Sept 2014]

8. MalariaGEN. Available from: www.

malariagen.net/ [Last accessed 16 Sept

2014]

9. Wellcome Trust Case Control Consortium

(WTCCC). Available from: www.wtccc.org.

uk/ [Last accessed 16 Sept 2014]

Attitudes towards genomic data sharing Original Research

informahealthcare.com doi: 10.1586/14737159.2014.961917

Exp

ert R

evie

w o

f M

olec

ular

Dia

gnos

tics

Dow

nloa

ded

from

info

rmah

ealth

care

.com

by

Nan

dini

Log

anat

han

on 0

9/26

/14

For

pers

onal

use

onl

y.

10. International Cancer Genome Consortium

(ICGC). Available from: https://icgc.org/

[Last accessed 16 Sept 2014]

11. 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

12. 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

13. 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

14. 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

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

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

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

34. Garland MJ. Experts and the public:

a needed partnership for genetic policy.

Public Underst Sci 1999;8(3):241-54

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

36. Jamal L, Sapp JC, Lewis K, et al. Research

participants’ attitudes towards theconfidentiality of genomic sequence

information. Eur J Hum Genet 2013;276:

1-5

37. Haga SB, O’Daniel J. Public perspectives

regarding data-sharing practices in genomics

research. Public Health Genomics 2011;

14(6):319-24

38. 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

39. Trinidad SB, Fullerton SM, Bares JM, et al.

Genomic research and wide data sharing:

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

45. Goddard KA, Smith KS, Chen C, et al.

Biobank recruitment: motivations for

nonparticipation. Biopreserv Biobank 2009;

7(2):119-21

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

47. 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’ opinionsof 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. 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. 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

Original Research Shabani, Bezuidenhout & Borry

doi: 10.1586/14737159.2014.961917 Expert Rev. Mol. Diagn.

Exp

ert R

evie

w o

f M

olec

ular

Dia

gnos

tics

Dow

nloa

ded

from

info

rmah

ealth

care

.com

by

Nan

dini

Log

anat

han

on 0

9/26

/14

For

pers

onal

use

onl

y.

52. Johnsson L, Helgesson G, Rafnar T, et al.

Hypothetical and factual willingness to

participate in biobank research. Eur J Hum

Genet 2010;18(11):1261-4

53. 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

54. 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

55. 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

56. 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

57. 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

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

59. 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

60. Greely HT. Banning genetic discrimination.

N Engl J Med 2005;353(9):865-7

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

62. Joly Y, Feze IN, Simard J. Genetic

discrimination and life insurance:

a systematic review of the evidence. BMC

Med 2013;11(1):25

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

64. 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

65. 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

69. Stranger M, Chalmers D, Nicol D. Capital,

trust & consultation: Databanks and

regulation in Australia. Crit Public Health

2005;15(4):349-58

70. 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

Attitudes towards genomic data sharing Original Research

informahealthcare.com doi: 10.1586/14737159.2014.961917

Exp

ert R

evie

w o

f M

olec

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Dia

gnos

tics

Dow

nloa

ded

from

info

rmah

ealth

care

.com

by

Nan

dini

Log

anat

han

on 0

9/26

/14

For

pers

onal

use

onl

y.