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Use of open, curated variant databases: ethics? Liability? - Bartha Knoppers


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Translation of genomics into medicine and drug development requires comprehensive, high-quality, genomic variant databases. To support translation, there is a movement towards sharing clinical annotations of variants (e.g., benign, unknown, pathogenic) internationally via open access. Despite the growing popularity of variant databases, ethical issues and liability risks have received scant attention. Ethical priorities for variant databases include 1) competence – ensuring that data is responsibly managed, curated, and used; 2) confidentiality – ensuring appropriate safeguards for patient data; 3) communication – clearly describing the purpose, quality standards, and data handling practices to contributing patients and potential users; and 4) continuous oversight to adapt database governance in a rapidly evolving environment. How can database managers fulfill these obligations when these responsibilities are increasingly distributed along the clinical pipeline? Legal issues include medical liability based on potential harm to patients; liability based on third-party intellectual property or privacy rights in the data; and regulatory risks as variant data is integrated into genetic tests or devices. Can these risks can be managed through appropriate governance structures – including adequate consents, access processes, contributor agreements, and disclaimers – while still facilitating sharing and clinical use?

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Use of open, curated variant databases: ethics? Liability? - Bartha Knoppers

  1. 1. Bartha M. Knoppers Director of the Centre of Genomics and Policy, McGill Chair, GA4GH Regulatory and Ethics Working Group Canada Research Chair in Law and Medicine Adrian Thorogood Academic Associate, Centre of Genomics and Policy. McGill Coordinator, GA4GH Regulatory and Ethics Working Group Use of open, curated variant databases: Ethics? Liability?
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  3. 3. 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
  4. 4. GA4GH Framework for Responsible Sharing of Genomic and Health-Related Data 4 • 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.
  5. 5. Human Rights Foundation Universal Declaration of Human Rights, (1948) 5 “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”
  6. 6. Framework for Responsible Sharing of Genomic and Health-Related Data 6 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
  7. 7. GA4GH Regulatory and Ethics Working Group • Consent Policy • Consent Clauses and Template for International Data Sharing 7 • Privacy & Security Policy • Data Sharing Lexicon • Accountability Policy Framework for Responsible Sharing of Genomic and Health-Related Data
  8. 8. • 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
  9. 9. 3 Tiers of the BRCA Exchange 9
  10. 10. Variant Databases: Ethics? 10
  11. 11. Variant Databases: Ethics? 11
  12. 12. Negligent Laboratory and Database Curation? 12 (2007) (2008)
  13. 13. Negligent Laboratory and Database Curation? (cont’d) 13 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
  14. 14. Negligent Communication? 14 Update:
  15. 15. Variant Databases: Shared Responsibility? 15
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  17. 17. 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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