ArticlePDF Available


Data sharing is increasingly regarded as an ethical and scientific imperative that advances knowledge and thereby respects the contributions of the participants. Because of this and the ever-increasing amount of data access requests currently filed around the world, three groups have decided to develop data sharing principles specific to the context of collaborative international genomics research. These groups are: the international Public Population Project in Genomics (P3G), an international consortium of projects partaking in large-scale genetic epidemiological studies and biobanks; the European Network for Genetic and Genomic Epidemiology (ENGAGE), a research project aiming to translate data from large-scale epidemiological research initiatives into relevant clinical information; and the Centre for Health, Law and Emerging Technologies (HeLEX). We propose seven different principles and a preliminary international data sharing Code of Conduct for ongoing discussion.
As early as 2002, the International Ethics Committee of
the Human Genome Organization (HUGO) stated that
human genomic databases should be considered as global
public goods [1]. In this statement, global public goods
were defined as goods ‘whose scope extends worldwide,
are enjoyable by all with no groups excluded, and when
consumed by one individual, are not depleted for others’
[2]. Buttressed by the Bermuda Principles of 1996 [2] and
mirrored in the Fort Lauderdale rules of 2003 [3], the
common philosophy of sharing resources was reaffirmed
in the 2008 International Summit on Proteomics Data
Release and Sharing Policy in Amsterdam [4] and in the
Toronto International Data Release Workshop of 2009 [5].
Finally, in January 2011, 17 major health funding
agencies signed a joint statement on sharing research
data to promote and improve public health [6]. However,
the challenge is to take these fundamental values of
sharing and access and to develop guiding principles
and procedures that can be used as a basis for
emerging practice.
To begin, we consider data sharing as a form of data
processing as defined by the EU Directive 95/46/EC on
data protection [7]. In this directive, data processing
refers to: ‘any operation or set of operations which is
performed upon personal data, whether or not by
automatic means, such as […] retrieval, consultation, use,
disclosure by transmission, dissemination or otherwise
making available […]’ [7]. Data can include raw data,
genotype/phenotype data and data included within
governmental health administrative databases. eoreti-
cally, personal medical records could be subsumed under
this term, but we have not specifically addressed such
data because their regulation is jurisdiction-specific. e
code’s principles, however, remain pertinent to such data.
For the terms ‘coded’ and ‘anonymized’, we use the
definitions provided by the 2007 International Con fer-
ence on Harmonization [8].
Data sharing is regarded as essential for enabling and
promoting genomic research in a way that will maximize
the benefits to public health [6] and society [9]. All
countries, funders and investigators are aware of the need
for research ethics and governance mechanisms in
research, but currently there is little policy guidance that
is specific to the international sharing of genomic
research data. In view of the recent calls for the develop-
ment of common principles applying to data access and
use [7,10], Public Population Project in Genomics (P3G)
[11], European Network for Genetic and Genomic
Epidemiology (ENGAGE) [12] and Centre for Health,
Law and Emerging Technologies (HeLEX) [13] are work-
ing on an international data sharing Code of Conduct
(Box 1). is has a dual purpose: to elucidate shared
values and to provide guidance on the basic obligations
Data sharing is increasingly regarded as an ethical and
scientic imperative that advances knowledge and
thereby respects the contributions of the participants.
Because of this and the ever-increasing amount of
data access requests currently led around the world,
three groups have decided to develop data sharing
principles specic to the context of collaborative
international genomics research. These groups are: the
international Public Population Project in Genomics
(P3G), an international consortium of projects partaking
in large-scale genetic epidemiological studies
and biobanks; the European Network for Genetic
and Genomic Epidemiology (ENGAGE), a research
project aiming to translate data from large-scale
epidemiological research initiatives into relevant
clinical information; and the Centre for Health, Law and
Emerging Technologies (HeLEX). We propose seven
dierent principles and a preliminary international data
sharing Code of Conduct for ongoing discussion.
© 2010 BioMed Central Ltd
Towards a data sharing Code of Conduct for
international genomic research
Bartha Maria Knoppers
*, Jennifer R Harris
, Anne Marie Tassé
Isabelle Budin-Ljøsne
, Jane Kaye
, Mylène Deschênes
and Ma’n H Zawati
Department of Human Genetics, McGill University, 740 Dr Peneld Avenue,
Montreal, Quebec H3A 1A4, Canada
Full list of author information is available at the end of the article
Knoppers et al. Genome Medicine 2011, 3:46
© 2011 BioMed Central Ltd
flowing from it. Given the varied disciplinary back-
grounds of researchers working in genomic research, it
can no longer be presumed that all the scientists engaged
in data sharing are bound by the same medical or other
professional deontological frameworks or can be subject
to disciplinary action for a breach. erefore, the pro-
posed international Code of Conduct for data sharing in
genomic research seeks to provide common guidance on
the basis of two fundamental values: (i) mutual respect
and trust between scientists, stakeholders and partici-
pants; and (ii) a commitment to safeguarding public
trust, participation and investment. e elaboration and
eventual implementation of such a code should be the
object of ongoing discussion and will begin with a series
Box 1. International Data Sharing Code of Conduct
This proposed international data sharing Code of Conduct seeks to promote greater access to and use of data in ways that are (as
proposed by the joint statement by funders of health research [6]):
‘Equitable: any approach to the sharing of data should recognize and balance the needs of researchers who generate and use data, other
analysts who might want to reuse those data, and communities and funders who expect health benets to arise from research.
Ethical: all data sharing should protect the privacy of individuals and the dignity of communities, while simultaneously respecting the
imperative to improve public health through the most productive use of data.
Ecient: any approach to data sharing should improve the quality and value of research and increase its contribution to improving public
health. Approaches should be proportionate and build on existing practice and reduce unnecessary duplication and competition.’
Principles and Procedures
1. Quality
Irrespective of the discipline, scientists involved in data sharing should be bona de researchers.
Proof of academic or other recognized peer reviewed standing is essential.
Harmonization of data collection and archiving methods and tools ensures validation of scientic quality.
Collaboration promotes eciency, sustainability and comparability.
2. Accessibility
Facilitation of both the deposit of data and secure access to data are the foundations of data sharing.
Curators of databases should promote sharing to generate maximum value.
Harmonization of deposit, access procedures and use promotes accessibility, equity and transparency.
3. Responsibility
Responsible governance should be shared between funders, generators and users of data.
Investments in databases require coordination, strategy and long-term core funding.
Mechanisms for building interoperability should be encouraged and appropriate management anticipated.
Capacity building and recognition of all the data generators contributes to best practices.
4. Security
Trust and the promotion of data sharing rely on data management and security mechanisms and also on oversight of their functioning.
Mechanisms for identifying and tracking data generators and users should be international.
5. Transparency
Key policies on publications, intellectual property, and industry involvement should be public.
Websites that are accessible to the general public serve to provide feedback on progress and general results.
6. Accountability
Inter-agency co-operation and funding fosters streamlined and ecient monitoring and good governance.
Provisions should be made for ongoing public engagement that is tailored to the nature of the database and local cultures.
7. Integrity
Mutual respect between all stakeholders is founded on personal and professional integrity.
Prevention of harms and anticipation of public concerns and scientic needs through foresight mechanisms encourage the development
of common, prospective policies.
Irresponsible research practices should be reported.
Sanctions for breach of this Code or of other legal or ethical obligations must be clear.
Knoppers et al. Genome Medicine 2011, 3:46
Page 2 of 4
of consultative discussions at international, European
and national fora.
Principles and procedures: background and
Although we are not attempting to prioritize or in any
way create a hierarchy among various principles in the
field of data sharing, they all derive from a shared belief
in maximizing both scientific quality (Box 1, point 1) and
public benefit through rapid release and public accessi-
bility to data (Box 1, point 2) [14].
e assurance of quality is sine qua non for ethical
science. Making it an explicit requirement reiterates its
importance and mandates comparison, validation and
replication, thereby ensuring appropriate and common
standard operating procedures and the use of accredited
facilities. Prospectively harmonizing procedures to facili-
tate interoperability and comparability is likely to promote
such quality and accessibility.
ere is no doubt that maximizing public benefit,
investment and participation is facilitated through data
sharing. Not only should access be equitable for research-
ers in both the public and private sectors, but ethics
reviewers should have the proper training and tools to
evaluate international requests. e datasets themselves
may be derived from the contributions of multiple
sources from different countries and projects. e
current legal and ethical constraints and bottlenecks to
access are obvious. Indeed, multiplicity of ethics review
may well be the Achilles heel for efficient sharing.
e tripartite responsibility of the data producers,
users and funders lays the foundation for data sharing
(Box 1, point 3). We see data sharing, which is often a
condition of funding, as part of the efficient and proper
stewardship of public funds. It also binds eventual users
in the recognition of a just return on public investment
and participation. is responsibility is chiefly expressed
both in the security mechanisms that translate the
principle into the construction of information technology
tools and firewalls and in the governance framework.
Security mechanisms
Security mechanisms (Box 1, point 4) go well beyond the
application of firewalls or de-identification techniques,
such as coding or anonymization. Indeed, unique, digital
identifiers (IDs) for biobanks [15,16] and for researchers
[17] have been proposed not only for security purposes
but to facilitate access. Such IDs would enable verification
and validation of the identities and credentials of
researchers by institutions and would become a mecha-
nism for allowing, tracking and auditing access, as well as
attributing contributions.
Digital identifier systems allow data tracing and pros-
pec tively limit the potential for malicious activities
involving re-identification of participants. is trans-
parency of data flow, access and use also curtails the
possibility of pre-publication scooping between producers
and users (Box 1, point 5). Pre-publication data release
depends on the respect by users and journals of
publication moratoria that allow data producers to share
data openly but provides a period of time to analyze and
publish their own data before secondary users do so.
Proper acknowledgement of the use of data resources
also allows funders to track their ‘investments’. It allows
the public to see that their altruistic participation has led
to fruitful scientific endeavors. Most importantly, data
users agree not to use intellectual property protection in
ways that would prevent or block access to, or use of, any
element of the dataset or any conclusion drawn directly
from it [18]. is does not prevent further research with
attendant intellectual property rights in downstream
discoveries provided that the best practices for licensing
policies for genomic inventions are followed.
Governance framework
Good governance underpins a system of data sharing that
depends on trust. Approaches to governance necessarily
vary between contexts and countries. Irrespective of
these differences, governance should be flexible in the
oversight and monitoring systems put in place. is is
crucial because public trust, which is increasingly trans-
lated through broad consents, is counterbalanced by both
security systems and governance. It could be asked
whether in considering the longevity of large inter-
national datasets, including samples, separate governance
models should be developed as distinct from local insti-
tutional mechanisms or those applicable to the oversight
of clinical trials.
Good governance assures the public and funders of
proper accountability and ethics review (Box 1, point 6).
Although local laws and ethics review systems vary, the
ethics norms and biobank policies applicable to large
data repositories are beginning to emerge [19,20]. ese
common norms are increasingly mirrored in model
material transfer and access agreements [10]. Contractual
in nature, they serve to bind researchers and their institu-
tions. Implicit in such agreements are the very principles
under discussion here. By making them explicit by using
such contracts, researchers, policymakers and ethics
com mittees have tools to work with that are more
transparent. For scientific integrity (Box 1, point 7) to be
viable, discussion on the nature of such principles and
their procedural translation in different contexts will
necessarily vary. Nevertheless, mutual respect between
all stakeholders and participants can be built on these
fundamental principles and procedures. Integrity also
entails the prevention of harms, anticipation of public
concerns and scientific needs as well as the reporting of
Knoppers et al. Genome Medicine 2011, 3:46
Page 3 of 4
irresponsible research practices and the creation of
appropriate sanctions [21].
Most importantly, ongoing communication with the
public on the ‘reality’ of data sharing principles and
procedures is essential. us, lay summaries of the
research proposals accessing and using data repositories
should be publicly posted. Although there is no personal
benefit to participants, such a public registry of research
uses ultimately allows participants to withdraw if they
disagree with the direction of the research. ere are also
other mechanisms of communication, such as bulletins
and websites. Population studies recontact their partici-
pants for updates, or to take new measurements, thereby
keeping ongoing consent alive and valid.
e most telling aspect of the developments described
above, however, is that the underlying values presented
here come from the current approaches promoted and
used by the scientists and funders themselves. Concern
for scientific integrity and mutual respect are then not
imposed by legislative or professional fiat but rather
reveal an already existing shared ethos on the proper
foundations for international science in the 21st century.
is augers well for the future viability of the preliminary
version of our proposed international data sharing Code
of Conduct in genomic research (Box 1).
Addressing the issue of data sharing in the context of
international genomic research requires not only a
holistic approach, but also the fair balancing of the
interests, rights and duties of various stakeholders involved
in collaborative endeavors. We have highlighted the need
for equitable, ethical and efficient access to data and
proposed a Code of Conduct (Box 1) that incorporates
seven principles: quality, accessibility, responsibility,
security, transparency, accountability and integrity. We
trust that this code will foster broader discussion
involv ing multiple stakeholders.
ENGAGE, European Network for Genetic and Genomic Epidemiology; HeLEX,
Centre for Health, Law and Emerging Technologies; HUGO, Human Genome
Organization; P3G, Public Population Project in Genomics.
Competing interests
The authors declare that they have no competing interests.
Authors’ contributions
BMK wrote the rst draft of the manuscript; JRH, AMT, IBL, JK, MD and MHZ
contributed equally to the manuscript. All authors read and approved the nal
The authors would like to thank Michael Le Huynh for his assistance in editing
this article.
Author details
1Department of Human Genetics, McGill University, 740 Dr Peneld Avenue,
Montreal, Quebec H3A 1A4, Canada. 2Norwegian Institute of Public Health,
PO Box 4404, Nydalen, N-0403 Oslo, Norway. 3Department of Public Health,
University of Oxford, Richards Building, Old Road Campus, Headington, Oxford
OX3 7LF, UK. 4P3G, Suite 590, 3333 Queen-Mary Road, Montreal, Quebec
H3V1A2, Canada.
Published: 14 July 2011
1. Human Genome Organisation (HUGO), Ethics Committee: Statement on
human genomic databases, December 2002. J Int Bioethique 2003,
2. Human Genome Organisation (HUGO): Principles Agreed at the First
International Strategy Meeting on Human Genome Sequencing: 25-28 February
1996; Bermuda. HUGO; 1996. []
3. Sharing Data from Large-scale Biological Research Projects: A System of
Tripartite Responsibility. Report of a meeting organized by the Wellcome
Trust and held on 14-15 January 2003 at Fort Lauderdale, USA
4. Rodriguez H, Snyder M, Uhlén M, Andrews P, Beavis R, Borchers C, Chalkley RJ,
Cho SY, Cottingham K, Dunn M, Dylag T, Edgar R, Hare P, Heck AJ, Hirsch RF,
Kennedy K, Kolar P, Kraus HJ, Mallick P, Nesvizhskii A, Ping P, Pontén F, Yang L,
Yates JR, Stein SE, Hermjakob H, Kinsinger CR, Apweiler R: Recommendations
from the 2008 International Summit on Proteomics Data Release and
Sharing Policy: The Amsterdam principles. J Proteome Res 2009, 8:3689-3692.
5. Birney E, Hudson TJ, Green ED, Gunter C, Eddy S, Rogers J, Harris JR, Ehrlich
SD, Apweiler R, Austin CP, Berglund L, Bobrow M, Bountra C, Brookes AJ,
Cambon-Thomsen A, Carter NP, Chisholm RL, Contreras JL, Cooke RM, Crosby
WL, Dewar K, Durbin R, Dyke SO, Ecker JR, El Emam K, Feuk L, Gabriel SB,
Gallacher J, Gelbart WM, Granell A, et al.: Prepublication data sharing. Nature
2009, 461:168-170.
6. Sharing research data to improve public health: full joint statement by
funders of health research [
7. EU Directive 95/46/EC - The Data Protection Directive
8. International Conference on Harmonisation of Technical Requirements for
Registration of Pharmaceuticals for Human Use: Denitions for Genomic
Biomarkers, Pharmacogenomics, Pharmacogenetics, Genomic Data and
Sample Coding Categories E15 [leadmin/Public_Web_
Site/ICH_Products/Guidelines/Ecacy/E15/Step4/E15_Guideline.pdf ]
9. Data storage and DNA banking for biomedical research: technical, social
and ethical issues. Eur J Hum Genet 2003, 11 Suppl 2:S8-S10.
10. O’Brien SJ: Stewardship of human biospecimens, DNA, genotype, and
clinical data in the GWAS era. Annu Rev Genomics Hum Genet 2009, 10:193-209.
11. Public Population Project in Genomics []
12. European Network for Genetic and Genomic Epidemiology
13. Centre for Health, Law and Emerging Technologies
14. Laurie G, Mallia P, Frenkel DA, Krajewska A, Moniz H, Nordal S, Pitz C, Sandor J:
Managing Access to Biobanks: how can we reconcile individual privacy
and public interests in genetic research? Med Law Int 2010, 10:315-337.
15. Cambon-Thomsen A: Assessing the impact of biobanks. Nat Genet 2003,
16. Kaufmann F, Cambon-Thomsen A: Tracing biological collections: between
books and clinical trials. JAMA 2008, 299:2316-2318.
17. GEN2PHEN Knowledge Centre []
18. International Cancer Genome Consortium []
19. OECD principles and guidelines for access to research data from public
funding []
20. Guidelines on human biobanks and genetic research databases (HBGRDs)
21. Singapore Statement on Research Integrity
Cite this article as: Knoppers BM, et al.: Towards a data sharing Code of
Conduct for international genomic research. Genome Medicine 2011, 3:46.
Knoppers et al. Genome Medicine 2011, 3:46
Page 4 of 4
... Regulation architectures (Evans, 2016;Mostert et al., 2016;Rothstein, 2013), technical requirements (Scheibner et al., 2020) and data protection rules are explicated in legislation such as the European Union's General Data Protection Regulation (GDPR) of 2016 and the Health Insurance Portability and Accountability Act (HIPAA, last amended in 2013) in the United States (Rothstein, 2013). Moreover, soft law and guidelines can be found at the international level (Knoppers et al., 2011;Sethi and Laurie, 2013 (Ballantyne, 2019;Scheibner et al., 2020). Still more dedicated sets of stipulations and rules are produced in response to ongoing debates about large-scale data research (Carter et al., 2015;Kalkman et al., 2019a;Scheibner et al., 2020). ...
... Still more dedicated sets of stipulations and rules are produced in response to ongoing debates about large-scale data research (Carter et al., 2015;Kalkman et al., 2019a;Scheibner et al., 2020). Adding to the above, self-regulation such as via codes of conduct has become an accepted means for DHRNs to establish best practices fit for the purpose of governance (Floridi et al., 2019;Knoppers et al., 2011). Finally, DHRNs often comprise an array of arrangements and entities that delineate and govern the functioning of ethical review and oversight of data processes in practice, going beyond strict formal requirements (Kaye et al., 2015(Kaye et al., , 2018Laurie et al., 2015;Sethi and Laurie, 2013). ...
... To provide more specific input on who to involve regarding which questions, governing bodies should actively build on and translate international efforts that develop guidance and consensus on responsible governance (e.g., Global Alliance for Genomics and Health (GA4GH), 2014, 2016, 2021Knoppers, 2014;Knoppers et al., 2011;Rehm et al., 2021). Drawing on contextual considerations for incorporating and applying international guidance on involvement raises the potential of triggering reflexive learning processes. ...
Full-text available
Current challenges to sustaining public support for health data research have directed attention to the governance of data-intensive health research networks. Accountability is hailed as an important element of trustworthy governance frameworks for data-intensive health research networks. Yet the extent to which adequate accountability regimes in data-intensive health research networks are currently realized is questionable. Current governance of data-intensive health research networks is dominated by the limitations of a drawing board approach. As a way forward, we propose a stronger focus on accountability as learning to achieve accountable governance. As an important step in that direction, we provide two pathways: (1) developing an integrated structure for decision-making and (2) establishing a dialogue in ongoing delib-erative processes. Suitable places for learning accountability to thrive are dedicated governing bodies as well as specialized committees, panels or boards which bear and guide the development of governance in data-intensive health research networks. A continuous accountability process which comprises learning and interaction accommodates the diversity of expectations, responsibilities and tasks in data-intensive health research networks to achieve responsible and effective governance.
... De plus, les personnes participantes doivent être au courant que leurs données pourraient être amalgamées à d'autres données pour aider à déterminer quels aspects d'un génome peuvent servir à prédire ce qui prédispose les gens à la maladie ou à un bon état de santé. Des données anonymisées pourraient servir à des publications de recherche et autres moyens de diffusion des connaissances 5,[9][10][11] . ...
... De juin 2019 à décembre 2021, le groupe de rédaction a procédé à des interrogations de la littérature scientifique (y compris de la littérature grise) pour recenser les documents relatifs aux politiques, aux documents de consentement et à la gestion de la recherche en génomique, ainsi que d'autres publications connexes. En plus des documents de consentement mentionnés précédemment, des publications clés, des politiques et d'autres documents connexes ont été présentés au groupe de travail 7,[9][10][11]13,21,[27][28][29] , ainsi que des documents liés au consentement et à la gestion identifiés lors des interrogations 6,9,[24][25][26]30 . Le travail réalisé sous l'égide du groupe responsable de la réglementation et de la déontologie à l'Alliance mondiale pour la génomique et la santé (GA4GH) a aussi été mis à contribution lors de l'élaboration de la présente ligne directrice 10,30 qui décrit les principes fondateurs, les codes et les conventions en plus des exigences de conformité aux politiques et à la réglementation. ...
... Deidentified data may be used in research publications and other forms of knowledge dissemination. 5,[9][10][11] ...
... From June 2019 to December 2021, the writing group conducted a series of literature searches (including for grey literature), to identify policy, consent and governance documents for genomics research, along with other related literature. In addition to the consent forms mentioned above, key literature, policy and other related documents were made available to the working group, 7,[9][10][11]13,21,[27][28][29] as were consent and governance documents identified through the searches. 6,9,[24][25][26]30 The work completed under the umbrella of the Global Alliance for Genomics and Health (GA4GH) Regulatory and Ethics Work Stream was also used to inform the development of this guideline, 10,30 which describes foundational principles, codes and conventions in addition to policy and regulatory compliance requirements. ...
... Open data policies from European countries [14,15] and the United states of America [16] increasingly require custodians of others' genomic data to make it as widely available as feasible, including to researchers in other countries [17]. Data sharing is regarded as essential for enabling and promoting genomic research in a way that will maximize the benefits to public health [18]. ...
Full-text available
Introduction The practice of creating large databases has become increasingly common by combining research participants’ data into larger repositories. Funders now require that data sharing be considered in newly funded research project, unless there are justifiable reasons not to do so. Access to genomic data brings along a host of ethical concerns as well as fairness and equity in the conduct of collaborative research between researchers from high- income and low-and middle-income countries. Materials and methods This systematic review protocol will be developed in line with PRISMA -guidelines which refers to Open Science Framework, registered in PROSPERO ( ) record CRD42022297984 and published in a peer reviewed journal. Data sources will include PubMed, google scholar, EMBASE, Web of science and MEDLINE. Both published and grey literature will be searched. Subject matter experts including bioethicists, principal investigators of genomic research projects and research administrators will be contacted. After de-duplication, titles and abstracts will be screened for eligibility. Data extraction will be undertaken using a piloted form designed in EPPI-Reviewer software before conducting risk of bias assessments by a pair of reviewers, acting independently. Any discrepancies will be resolved by consensus. Analysis will be done using a structured narrative synthesis and where feasible metanalysis. This review will attempt to highlight the context of data sharing practices in the global North-South and South-South collaborative human genomic research in low- and middle-income countries. This review will enhance the body of evidence on ethical, legal and social implications of data sharing in international collaborative genomic research setting criteria for data sharing. The full report will be shared with relevant stakeholders including universities, civil society, funders, and departments of genomic research to ensure an adequate reach in low-and middle-income countries (LMICs).
... [5] With the growing importance of biobanks, there is a continuing debate about sample and data ownership, sample access, and data sharing. [23,24] For the biobank to operate efficiently, data access protocols that govern access to stored data and privacy-preserving mechanisms must be devised. [2,25] The most straightforward way to make this procedure more understandable is to describe the structure and operations of the biobank or to use flowcharts to illustrate pertinent processes. ...
Full-text available
The establishment of a biobank and effective utilization of the biological resources comes with lot of challenges which require operating processes and effective governance structure with public awareness. As biobank is an evolving field of data driven health-care research, guided strategies in line with the national and international statutory body regulations is important. A trustworthy governance is paramount in developing a sustainable way of establishing, maintaining and successful functioning of a biobank. This paper highlights the structure of biobank governance, challenges and processes of effective integration of governance strategies.
... Some participants look at data sharing as assisting other scholars, this is consistent with the finding that pointed out pleasure in helping others is a key for data sharing behavior (Kim, Lee and Elias 2015). Others view it as a tool for collaboration with various researchers that corroborated with findings from with previous studies (Callahan et al. 2017;Knoppers et al. 2011;Reichman, Jones and Schildhauer 2011;Van den Eynden et al. 2011). They also perceive data sharing as a practice that can safeguard data from misconduct. ...
Open science provides transparency to research processes by means of open data as data sharing initiates. The need for data sharing among scholars and researchers was evident, the uptake however is slow due to the benefits and detriments of the practices. This paper explores the perceptions of Nigerian academics towards research data sharing practices. Participants from five universities in Nigeria were purposively sampled. Data were gathered through interviews with 22 participants. Their perception towards data sharing was reflected through their awareness, understanding and familiarity of the practice. Most of the participants perceived that data sharing would add value to their professional reputation and fast-track their research progression, however a few of them perceived data sharing as disquieting. The academics labelled data privacy and cultural orientation to be those risks associated with data sharing. The study provides deeper understanding of data sharing and the opportunity for academics to know diverse insights of data sharing practices that would guide scholars in intensifying a variety of data management services, which then can be personalized to their exclusive needs. Further investigation could be done through quantitative research approach to inform data sharing behavior in a larger scale in order to improve the current practices.
... The sharing of data, including genomic and health-related data, within the wider research community is key to our understanding of human health and well-being, and serves to foster scientific advancements and their benefits (Knoppers et al., 2014;Lo, 2015). Indeed, data sharing is recognized as both an ethical and scientific imperative (Bauchner et al., 2016;Knoppers et al., 2011;Knoppers et al., 2014). ...
Full-text available
Data sharing is key to advancing our understanding of human health and well-being. While issues related to pediatric research warrant strong ethical protections, overly protectionist policies may serve to exclude minors from data sharing initiatives. Pediatric data sharing is critical to scientific research concerning health and well-being, to say nothing of understanding human development generally. For example, large-scale pediatric longitudinal studies, such as those in the DREAM-BIG Consortium, on the influence of prenatal adversity factors on child psychopathology, will provide prevention data and generate future health benefits. Recent initiatives have formulated sound policy to help enable and foster data sharing practices for pediatric research. To help translate these policy initiatives into practice, we discuss how model consent clauses for pediatric research can help address some of the issues and challenges of pediatric data sharing, while enabling data sharing.
Data sharing is central to the rapid translation of research into advances in clinical medicine and public health practice. In the context of COVID-19, there has been a rush to share data marked by an explosion of population-specific and discipline-specific resources for collecting, curating, and disseminating participant-level data. We conducted a scoping review and cross-sectional survey to identify and describe COVID-19-related platforms and registries that harmonise and share participant-level clinical, omics (eg, genomic and metabolomic data), imaging data, and metadata. We assess how these initiatives map to the best practices for the ethical and equitable management of data and the findable, accessible, interoperable, and reusable (FAIR) principles for data resources. We review gaps and redundancies in COVID-19 data-sharing efforts and provide recommendations to build on existing synergies that align with frameworks for effective and equitable data reuse. We identified 44 COVID-19-related registries and 20 platforms from the scoping review. Data-sharing resources were concentrated in high-income countries and siloed by comorbidity, body system, and data type. Resources for harmonising and sharing clinical data were less likely to implement FAIR principles than those sharing omics or imaging data. Our findings are that more data sharing does not equate to better data sharing, and the semantic and technical interoperability of platforms and registries harmonising and sharing COVID-19-related participant-level data needs to improve to facilitate the global collaboration required to address the COVID-19 crisis.
Synopsis Genome sequencing becomes more accessible and powerful every year, but there is a lack of consensus on what information should be provided in publications that include genomic data. The result is a flood of sequencing data without a framework to evaluate its quality and completeness, hindering reproducibility. In non-model taxa in marine systems, a lack of detail in methods sections often hinders future researchers from adopting improved techniques, leaving them to repeat costly protocols and take up computational (wall) time with programs that are already known to fail. Here, I present a set of guidelines tailored for marine taxa (emerging model organisms) to promote consistency between publications, increase transparency of sequencing projects, and preserve the value of sequence data as sequencing technologies advance. Included is a checklist to (1) guide authors toward including more detailed information in their manuscripts, (2) expand data availability, and (3) assist reviewers to thoroughly vet methods and results of future ‘omic publications. This set of guidelines will support the usefulness of ‘omic data in future analyses by providing a framework to document and evaluate these data, leading to transparent and reproducible genomics research on emerging marine systems.
Full-text available
The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.
Full-text available
Testicular cancer represents the most curable solid tumor, with a 10-year survival rate of more than 95%. Given the young average age at diagnosis, it is estimated that effective treatment approaches, in particular, platinum-based chemotherapy, have resulted in an average gain of several decades of life. This success, however, is offset by the emergence of considerable long-term morbidity, including second malignant neoplasms, cardiovascular disease, neurotoxicity, nephrotoxicity, pulmonary toxicity, hypogonadism, decreased fertility, and psychosocial problems. Data on underlying genetic or molecular factors that might identify those patients at highest risk for late sequelae are sparse. Genome-wide association studies and other translational molecular approaches now provide opportunities to identify testicular cancer survivors at greatest risk for therapy-related complications to develop evidence-based long-term follow-up guidelines and interventional strategies. We review research priorities identified during an international workshop devoted to testicular cancer survivors. Recommendations include 1) institution of lifelong follow-up of testicular cancer survivors within a large cohort setting to ascertain risks of emerging toxicities and the evolution of known late sequelae, 2) development of comprehensive risk prediction models that include treatment factors and genetic modifiers of late sequelae, 3) elucidation of the effect(s) of decades-long exposure to low serum levels of platinum, 4) assessment of the overall burden of medical and psychosocial morbidity, and 5) the eventual formulation of evidence-based long-term follow-up guidelines and interventions. Just as testicular cancer once served as the paradigm of a curable malignancy, comprehensive follow-up studies of testicular cancer survivors can pioneer new methodologies in survivorship research for all adult-onset cancer.
Full-text available
We conducted a genome-wide association study for testicular germ cell tumor, genotyping 298,782 SNPs in 979 affected individuals and 4,947 controls from the UK and replicating associations in a further 664 cases and 3,456 controls. We identified three new susceptibility loci, two of which include genes that are involved in telomere regulation. We identified two independent signals within the TERT-CLPTM1L locus on chromosome 5, which has previously been associated with multiple other cancers (rs4635969, OR=1.54, P=1.14x10(-23); rs2736100, OR=1.33, P=7.55x10(-15)). We also identified a locus on chromosome 12 (rs2900333, OR=1.27, P=6.16x10(-10)) that contains ATF7IP, a regulator of TERT expression. Finally, we identified a locus on chromosome 9 (rs755383, OR=1.37, P=1.12x10(-23)), containing the sex determination gene DMRT1, which has been linked to teratoma susceptibility in mice.
Full-text available
Familial aggregations of testicular germ cell tumor (FTGCT) have been well described, suggesting the existence of a hereditary TGCT subset. Approximately 1.4% of newly diagnosed TGCT patients report a positive family history of TGCT. Sons and siblings of TGCT patients have four- to sixfold and eight- to tenfold increases in TGCT risk respectively. Segregation analyses suggest an autosomal recessive mode of inheritance. Linkage analyses have identified several genomic regions of modest interest, although no high-penetrance cancer susceptibility gene has been mapped yet. These data suggest that the combined effects of multiple common alleles, each conferring modest risk, might underlie familial testicular cancer. Families display a mild phenotype: the most common number of affected families is 2. Age at diagnosis is 2-3 years younger for familial versus sporadic cases. The ratio of familial seminoma to nonseminoma is 1.0. FTGCT is more likely to be bilateral than sporadic TGCT. This syndrome is cancer site specific. Testicular microlithiasis is a newly recognized FTGCT component. Candidate gene-association studies have implicated the Y chromosome gr/gr deletion and PDE11A gene mutations as genetic modifiers of FTGCT risk. Two genomewide association studies of predominantly sporadic but also familial cases of TGCT have implicated the KIT-ligand, SPRY4, and BAK1 genes as TGCT risk modifiers. All five loci are involved in normal testicular development and/or male infertility. These genetic data provide a novel insight into the genetic basis of FTGCT, and an invaluable guide to future TGCT research.
Full-text available
Rapid release of prepublication data has served the field of genomics well. Attendees at a workshop in Toronto recommend extending the practice to other biological data sets.
Full-text available
We conducted a genome-wide association study for testicular germ cell tumor (TGCT), genotyping 307,666 SNPs in 730 cases and 1,435 controls from the UK and replicating associations in a further 571 cases and 1,806 controls. We found strong evidence for susceptibility loci on chromosome 5 (per allele OR = 1.37 (95% CI = 1.19-1.58), P = 3 x 10(-13)), chromosome 6 (OR = 1.50 (95% CI = 1.28-1.75), P = 10(-13)) and chromosome 12 (OR = 2.55 (95% CI = 2.05-3.19), P = 10(-31)). KITLG, encoding the ligand for the receptor tyrosine kinase KIT, which has previously been implicated in the pathogenesis of TGCT and the biology of germ cells, may explain the association on chromosome 12.
This article is concerned with the ultimate objectives of genetic biobanks set up to promote the public interest-being the sharing of samples and data for medical research-and the consequences for personal privacy of realising them. Our aim is to chart the values, interests and principles in play, to consider the challenges of realising biobanking objectives on a global scale, and to propose viable ways forward that ensure, as far as possible, that access provisions remain fit for purpose throughout the entire life of a biobank, while adequately protecting the privacy interests at stake. It is argued that key features in any robust access model must include mechanisms to (a) maintain participant trust in management of the resource and to measure and respond to participants' expectations, (b) facilitate and promote the sharing of benefits, and (c) respond timeously and effectively to new challenges.
An ethical quandary is emerging over custodianship of and access to DNA specimens and attached data, clinical and genetic, held in large disease cohort collections. The balance of patients' rights and science/society's quest for broad open access must be resolved in order to realize the promise of gene association studies of complex human disease. A way forward may be to convene a colloquium of international medical and science organizations charged with developing global consensus guidance and ethical principles for access to and use of genomic biobanks.