Toward better governance of human genomic data

O’Doherty, Kieran C.; Shabani, Mahsa; Dove, Edward S.; Bentzen, Heidi Beate; Borry, Pascal; Burgess, Michael; Chalmers, Don; Vries, Jantina de; Eckstein, Lisa; Fullerton, Stephanie M.; Juengst, Eric T.; Kato, Kazuto; Kaye, Jane; Knoppers, Bartha Maria; Koenig, Barbara A.; Manson, Spero M.; McGrail, Kimberlyn; McGuire, Amy L.; Meslin, Eric M.; Nicol, Dianne; Prainsack, Barbara; Terry, Sharon F.; Thorogood, Adrian; Burke, Wylie

doi:10.1038/s41588-020-00742-6

Cited by 34 publications

(33 citation statements)

References 29 publications

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“…To address these various concerns, many international genomic research collaborations have turned to the use of governance frameworks. A recent analysis of these initiatives found five key functions of good governance for data sharing, namely that the governance framework enables data access, ensures legal compliance, supports appropriate data use and mitigates harms, promotes equity in the use of genomic data and uses genomic data for public benefit 200 .…”

Section: Data Equitymentioning

confidence: 99%

Genome-wide association studies

Uffelmann

Huang

Munung

et al. 2021

Nat Rev Methods Primers

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Section: Data Equitymentioning

confidence: 99%

Genome-wide association studies

Uffelmann

Huang

Munung

et al. 2021

Nat Rev Methods Primers

Self Cite

693

428

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“…Trustworthiness was considered to encompass ideas of public (including future public) benefit, evidence-based standards, governance [ 65 ], transparency, consistency and communication. Trustworthiness applies to people, infrastructure and processes.…”

Section: Governance and Regulationmentioning

confidence: 99%

Genomic health data generation in the UK: a 360 view

et al. 2021

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In the UK, genomic health data is being generated in three major contexts: the healthcare system (based on clinical indication), in large scale research programmes, and for purchasers of direct-to-consumer genetic tests. The recently delivered hybrid clinical/research programme, 100,000 Genomes Project set the scene for a new Genomic Medicine Service, through which the National Health Service aims to deliver consistent and equitable care informed by genomics, while providing data to inform academic and industry research and development. In parallel, a large scale research study, Our Future Health, has UK Government and Industry investment and aims to recruit 5 million volunteers to support research intended to improve early detection, risk stratification, and early intervention for chronic diseases. To explore how current models of genomic health data generation intersect, and to understand clinical, ethical, legal, policy and social issues arising from this intersection, we conducted a series of five multidisciplinary panel discussions attended by 28 invited stakeholders. Meetings were recorded and transcribed. We present a summary of issues identified: genomic test attributes; reasons for generating genomic health data; individuals’ motivation to seek genomic data; health service impacts; role of genetic counseling; equity; data uses and security; consent; governance and regulation. We conclude with some suggestions for policy consideration.

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“…In a recent Comment about "better governance of human genomic data" it was argued that for "the collection, storage and curation of human genomic data for biomedical research", some "genomic data repositories and consortia have adopted governance frameworks to both enable wide access and protect against possible harms" [73]. The authors of this important Comment explain, also, that purpose of this document is "the identification of the functions that governance of genomic data should fulfill", and also to demonstrate the governance frameworks of six large-scale international genomic projects [73]. The information presented through the six genomic projects is intended primarily to demonstrate the identified governance functions and describe the differences in transparency concerning the information they produce about their governance approaches.…”

Section: Personalized Medicine-organization Of Human Genomic Datamentioning

confidence: 99%

“…. because of limitations in human capital, fiscal resources and technological sophistication" [73]. Constraints are applied when genomic data between groups are interpreted, as there are differences in the capacity to benefit from generating genomic data.…”

Section: Personalized Medicine-organization Of Human Genomic Datamentioning

confidence: 99%

“…It is recommended that "governance of science becomes more transparent, representative and responsive to the voices of many constituencies by conducting public consultations about data-sharing" [75]. An example of effective governance framework is the Human Heredity and Health in Africa (H3Africa) Initiative (https://h3africa.org/ accessed on 9 February 2021) that underlines the genomic research that benefits African populations [73]. The H3Africa promotes research of genomics and environmental factors of common diseases, with the objective to improve the health status of African populations, generating new data [73].…”

Section: Personalized Medicine-organization Of Human Genomic Datamentioning

confidence: 99%

See 1 more Smart Citation

Constraints in Clinical Cardiology and Personalized Medicine: Interrelated Concepts in Clinical Cardiology

Lourida

Louridas

2021

Cardiogenetics

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Systems biology is established as an integrative computational analysis methodology with practical and theoretical applications in clinical cardiology. The integration of genetic and molecular components of a disease produces interacting networks, modules and phenotypes with clinical applications in complex cardiovascular entities. With the holistic principle of systems biology, some of the features of complexity and natural progression of cardiac diseases are approached and explained. Two important interrelated holistic concepts of systems biology are described; the emerging field of personalized medicine and the constraint-based thinking with downward causation. Constraints in cardiovascular diseases embrace three scientific fields related to clinical cardiology: biological and medical constraints; constraints due to limitations of current technology; and constraints of general resources for better medical coverage. Systems healthcare and personalized medicine are connected to the related scientific fields of: ethics and legal status; data integration; taxonomic revisions; policy decisions; and organization of human genomic data.

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Toward better governance of human genomic data

Cited by 34 publications

References 29 publications

Genome-wide association studies

Genome-wide association studies

Genomic health data generation in the UK: a 360 view

Constraints in Clinical Cardiology and Personalized Medicine: Interrelated Concepts in Clinical Cardiology

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