genomicsandhealth.org
Bartha M. KnoppersDirector of the Centre of Genomics and Policy, McGillChair, GA4GH Regulatory and Ethics Working GroupCanada Research Chair in Law and Medicine
Adrian ThorogoodAcademic Associate, Centre of Genomics and Policy. McGillCoordinator, GA4GH Regulatory and Ethics Working Group
Use of open, curated variant databases: Ethics? Liability?
genomicsandhealth.org
Mission
To accelerate progress in human health by helping to establish a common framework of harmonized approaches to enable effective and responsible sharing of genomic and clinical data, and by catalyzing data sharing projects that drive and demonstrate the value of data sharing
genomicsandhealth.org
GA4GH Framework for Responsible Sharing of Genomic and Health-Related
Data
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• Current frameworks are founded on the principle of protection from harm. In contrast,
• GA4GH Framework aims to activate the right to science and the right to recognition for scientific production by promoting responsible data sharing.
http://genomicsandhealth.org/framework
genomicsandhealth.org
Human Rights Foundation
Universal Declaration of Human Rights, (1948)
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“The Right to Science”
“Everyone has the right to the protection of the moral and material interests resulting from any scientific, literary or artistic production of which he is the author.”
“Everyone has the right freely to participate in the cultural life of the community, to enjoy the arts and to share in scientific advancement and its benefits.”
27(1) 27(2)
“The Right to Recognition”
genomicsandhealth.org
Framework for Responsible Sharing of Genomic and Health-Related Data
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The Framework is currently available in 12 languages. Thank you to all the volunteers!
• Arabic
• Chinese
• French
• German
• Greek
• Hindi
• Italian
• Japanese
• Portuguese
• Spanish
• Russian
Πλαίσιο για την Υπεύθυνη Κοινοχρησία Γονιδιωματικών και άλλων Ιατρικών Δεδομένων
基因组学与健康相关数据负责任的共享框架بالصحة والمتصلة الجینومیة للمعلومات مسؤول لتبادل إطار
Cadre pour un partage responsable des données génomiques et des données de santé
ゲノム及び健康関連データの責任ある共有に関する枠組み
Marco de actuación para el uso compartido responsable de datos genómicos y relativos a la salud
Framework para Compartilhamento Responsável de Dados Genômicos e Relacionados à Saúde
Rahmenkonzept für die verantwortungsvolle Datenweitergabe genomischer und gesundheitsbezogener Daten
Framework per la condivisione responsabile di dati genomici e relativi alla salute
Концепция ответственного обмена геномными данными и данными,связанными со здоровьем человека
genomicsandhealth.org
GA4GH Regulatory and Ethics Working Group
• Consent Policy• Consent Clauses
and Template for International Data Sharing
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• Privacy & Security Policy
• Data Sharing Lexicon
• Accountability Policy
Framework for Responsible Sharing of Genomic and Health-Related Data
genomicsandhealth.org
• Undertaken by the members• Catalyzed and supported by GA4GH coordinators and Working Groups• Purpose: to drive learning, identify requirements, evaluate value and
coordinate activity
Beacon Project
Matchmaker Exchange
BRCA Challenge
Demonstration projects
genomicsandhealth.org
Negligent Laboratory and Database Curation? (cont’d)
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Alleged that Athena:
• Failed to provide an accurate genetic result• Failed to update its variant classifications
Standard of Care for Variant Classification?
• Athena did not follow its own scheme for classification.• Athena had specific knowledge variant was pathogenic
• 2 (Athena) publications linked the mutation to the disease• Athena patent applications included the variant
genomicsandhealth.org
GA4GH Framework
“It interprets the right of all people to share in the benefits of scientific progress and its applications as being the duty of data producers and users to engage in responsible scientific inquiry and to access and share genomic and health-related data across the translation continuum, from basic research through practical applications. It recognizes the rights of data producers and users to be recognized for their contributions to research, balanced by the rights of those who donate their data. In addition to being founded on the right of all citizens in all countries to the benefits of the advancements of science, and on the right of attribution of scientists, it also reinforces the right of scientific freedom.”
Global Alliance for Genomics and Health, “Framework for Responsible Sharing of Genomic and Health-Related Data”
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