use of open, curated variant databases: ethics? liability? - bartha knoppers

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?


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


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

http://genomicsandhealth.org/framework


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”


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


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


• 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


3 Tiers of the BRCA Exchange

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Variant Databases: Ethics?

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Variant Databases: Ethics?

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Negligent Laboratory and Database Curation?

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(2007) (2008)


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


Negligent Communication?

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Update:


Variant Databases: Shared Responsibility?

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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”