Biobanking and genomic research: Some special needs

1. 29e Confrence internationale des commissaires à la protection de la vie prive

2. Biobanking andgenomic research:Some special needs William W. Lowrance, PhD (lowrance@iprolink.ch) September 27, 2007 29e Confrence internationale des commissaires à la protection de la vie prive

3. Need to make clearer distinctions among the kinds of data Biobanks, major platforms of data and biospecimens curated as broad resources − banks − for research Genetic/genomic project data and biospecimen collections, cordoned-off by research protections Clinical genetic test data, held under medical confidentiality 29e Confrence internationale des commissaires à la protection de la vie prive

4. Distinctions, cont. Genetic-related public-health data, protected by public-health laws Other sets of biological materials and derived data, such as forensic collections, held under various regimes. Failure to make firm distinctions is causing serious confusion in dialogue and regulation! 29e Confrence internationale des commissaires à la protection de la vie prive

5. Genetic/ genomic/ biobank exceptualism? My view is that — • Clinical genetic-test and related data should be treated like other sensitive medical data • But until a number of issues get sorted-out and reliable protections are in place, most genomic and research biobank data deserve special attention. 29e Confrence internationale des commissaires à la protection de la vie prive

6. Need to refine aspects of the whole suite of research protections − Informed consent − De-identification − Research-ethics oversight − Safeguards − Data-release policies and practices − Barriers against access for non-research purposes − Sanctions against misuse. 29e Confrence internationale des commissaires à la protection de la vie prive

7. Need to rethink the construal of consent • Traditionally, consent has been meant to be "fully informed" • But biobanking and genomic data, and their risks, are very difficult for most people to comprehend • So, in consenting: informed of what? 29e Confrence internationale des commissaires à la protection de la vie prive

8. In my view, consent negotiations should inform of — − the purposes − the overall plan and any data- or specimen-collecting that may involve them directly − the disclosure risks generally − the auspices and protections that make "the deal" trust-worthy − anything else asked about. 29e Confrence internationale des commissaires à la protection de la vie prive

9. Need to cope with identifiability The challenge is that genomic data: − are extensive − are very fine-grained − influence many personal attributes − hold implications about family − are intrinsic to the body − don't change during the lifetime − are unique to the individual. 29e Confrence internationale des commissaires à la protection de la vie prive

10. Identifiability, cont. • Whether and how to de-identify depends on the character of the data, the intended uses, consent, disclosure risks, and safeguards. • As an alternative or complement to de-identification, controlled data-release should be seriously considered. 29e Confrence internationale des commissaires à la protection de la vie prive

11. Need to improve data-release • For open release, must become clearer as to "how much" genome can be exposed without undue disclosure risk • For controlled release, must attend to the terms of release agreements, stewardship, security, and enforcement. Ref: Lowrance and Collins, "Identifiability in genomic research," Science 317, 600−602 (August 3, 2007). 29e Confrence internationale des commissaires à la protection de la vie prive

12. In all of this — We must facilitate health research for the collective public good and at the same time protect the individuals with whom the data and biospecimens were, or are, associated! 29e Confrence internationale des commissaires à la protection de la vie prive

13. Biobanks: Balancing Existing Norms and Emerging NeedsTimothy CaulfieldHealth Law Institute An exploration of the justification for the emerging consent policies 29e Confrence internationale des commissaires à la protection de la vie prive

14. Biobanks Exercise Cancer Asthma Infectious Consent? Lifestyle Med info BioBank/Cohort - a “research platform” Demo Socio Consent? Public participants: donate DNA sample, etc. 29e Confrence internationale des commissaires à la protection de la vie prive

15. A shifting norm? • Pressures to move away from the autonomy driven consent model… Blanket/Broad/General Consent is a Deviation from the Accepted Standard. “When it comes to biomedical research using biobanks, classical informed consent is abandoned in favour of general consent – a less strict standard” (Elger and Caplan, 2006). 29e Confrence internationale des commissaires à la protection de la vie prive

16. What is at stake… • Autonomy • Control of info, self determination, not about risk… • Confidentiality • Protecting information ???? • Fundamental right? • SCC (Labaye) “…research in biobanks … goes to the core of individual autonomy and fundamental rights.” National Bioethics Commission (Greece) (2006). 29e Confrence internationale des commissaires à la protection de la vie prive

17. Autonomy and Research • In part, the strength of autonomy in health law/research ethics is a reaction against the “public worth of science” argument 29e Confrence internationale des commissaires à la protection de la vie prive

18. Policy and Research • If about autonomy (as a fundamental right) and if it applies to control of genetic and health information, what evidence is needed to override? • At a minimum, the onus is on those who want to impinge on the right (can’t be presumed) Public health Convenience Public good Bias New Consent Approach Autonomy 29e Confrence internationale des commissaires à la protection de la vie prive

19. Recommendation 9: Blanket consent for future research is only permissible in circumstances where anonymity of future data can be guaranteed • blanket future consent is only permissible where anonymity can be guaranteed, and there is no risk that unexpected results will filter back to the subjects concerned. If this guarantee is not possible, or if linking of data is necessary for the research, then specific consent to the specific research must be obtained. 29e Confrence internationale des commissaires à la protection de la vie prive

20. Public Perception Research • A justification for a policy? 29e Confrence internationale des commissaires à la protection de la vie prive

21. Themes from the research • People want control • Trust important • A minority don’t want to contribute • Sensitivity around genetic information • If asked, re-consent an issue 29e Confrence internationale des commissaires à la protection de la vie prive

22. Policy and Research • If it is about autonomy as a fundamental concept, what is the role of perception evidence? • Can a majority preference override a minority right? • If yes, what rights and when? Reconcile emerging policies with existing norms… 29e Confrence internationale des commissaires à la protection de la vie prive

23. Privacy & Population Genomics A Simulated Marriage? Pr Bartha Maria Knoppers Canada Research Chair in Law and Medicine Genetics and Society Project University of Montreal 29e Confrence internationale des commissaires à la protection de la vie prive

24. Wordwide, there are over 120 population-based biobanks each with >10,000 participants 29e Confrence internationale des commissaires à la protection de la vie prive

25. Large population-based studies around the world 29e Confrence internationale des commissaires à la protection de la vie prive

26. Council of Europe CE Recommendation Rec(2006)4 of the Committee of Ministers to member states on research on biological materials of human origin, March 2006 Article 17 A population biobank is a collection of biological materials that has the following characteristics: • The collection has a population basis; • It is established, or has been converted, to supply biological materials or data derived therefrom for multiple future research projects; • It contains biological materials and associated personal data, which may include or be linked to genealogical, medical and lifestyle data and which maybe regularly updated; • It receives and supplies materials in an organised manner. 29e Confrence internationale des commissaires à la protection de la vie prive

27. “Few issue clusters are identified by researchers as so urgently needing resolution as those surrounding confidentiality and anonymisation. They are not unique to data sharing activities, but they are central to them.” Lowrance WW. Access to collections of data and materials for health research. Medical Research Council and Wellcome Trust, 2006, p.36 29e Confrence internationale des commissaires à la protection de la vie prive

28. Knoppers BM, Saginur M. The Babel of genetic data terminology. Nature Biotechnology. 2005; 23(8):925-7 29e Confrence internationale des commissaires à la protection de la vie prive

29. Identifiability “Reasonable/Practicable”Council of Europe Recommendation No. R (97) 5 on the Protection of Medical Data (Feb. 13, 1997) “An individual shall not be regarded as identifiable if identification requires an unreasonable amount of time and manpower. ” 29e Confrence internationale des commissaires à la protection de la vie prive

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31. Protection of Genetic Data Four Major Different Normative Approaches to Genetic Information Personal Information Approach - Genetic information in its definition of personal information. Sensitive Information Approach – Prohibits the processing for sensitive data unless law requires it, for public health purposes, or explicit consent is obtained. Health or Medical Information Approach – Covered expressly or impliedly by the definitions of health or medical information. Genetic Information Approach – Accords special status to genetic information and defines what constitutes genetic information and distinguishes it from other types of data, general personal information and health information. 29e Confrence internationale des commissaires à la protection de la vie prive

32. Protection of Genetic Dataas Sensitive InformationE.C. (Independent Expert Group)Ethical, Legal and Social Aspects of Genetic Testing: Research, Development and Clinical Applications (2004) “Genetic data of importance in a clinical and/or family context should receive the same level of protection as other comparably sensitive medical data.” 29e Confrence internationale des commissaires à la protection de la vie prive

33. Protection of Genetic Data as Personal “PIPEDA does not use the term ‘genetic information’ in the definition, it is clear that the comprehensive definition of personal health information includes protection for an individual's genetic information.” Source: Matthew Taylor “Human Rights Issues Related to Genetic Information and Privacy” in A Brave New World : Where Biotechnology and Human Rights Intersect  (2005) 29e Confrence internationale des commissaires à la protection de la vie prive

34. Public Population Project in Genomics A consortium dedicated to fostering international collaboration between researchers and projects in the field of population genomics www.p3gconsortium.org 29e Confrence internationale des commissaires à la protection de la vie prive

35. Major goals of P3G • boost sample sizes to several million subjects • allow powerful gene-environment studies of most common diseases within 10 years instead of 15-25 years. • address needs for replication • allow comparisons of genetic effects in different environments • sharing the large costs across nations • enhance the exchange of information 29e Confrence internationale des commissaires à la protection de la vie prive

36. P3G Charter Members 29e Confrence internationale des commissaires à la protection de la vie prive * Founding Charter Members

37. How long does it take to reach 10,000 cases in a cohort with 500,000 cases? 29e Confrence internationale des commissaires à la protection de la vie prive Paul Burton, UK BioBank Technical Report 2005

38. P3G Working groups Genomics and Biochemical Investigations Knowledge Curation and Information Technology Ethics, Governance and Public Engagement Epidemiology and Biostatistics 29e Confrence internationale des commissaires à la protection de la vie prive

39. DESIGN OF STUDIES CONTEMPORARY BIOBANKING Reference Tools for Power Calculation INFORMATION COLLECTION/ PROCESSING Consensus definition of terms in the field of biobanking Reference procedures for sample collection, management and storage P3G Observatory KNOWLEDGE TRANSFER ETHICS AND GOVERNANCE Reference tools for preparation of publications Guiding Principles, Legislation, and Background Papers on Population Genomics STATISTICS IT AND COMPUTER SCIENCE Genotyping data analysis Public Databases Tag SNP Selection Programs Genotypes Analysis Software Reference tools for statistical analysis 29e Confrence internationale des commissaires à la protection de la vie prive

40. Characteristics of the generic data set Comprehensive enough to ensure the realization of valid research Small enough to encourage buy-in. NOT a prescriptive list of all the variables to be collected by a biobank 100 data items (essential and extended) and 100 optional items 15-25 % of the data items covered in a specific biobank Approach in genetics: consent, confidentiality, access, commercialization, and governance 29e Confrence internationale des commissaires à la protection de la vie prive

41. Examples Aliquot: A portion of a sample of biological material that has been divided into separated parts. Anonymization:The irreversible removal of personal identifiers from data or samples, such that no specific individual can be identified. Audit: A documented review of procedures in order to evaluate adherence to written standards operating practices (SOPs) or laws and regulations (adapted from ISBER Best Practices, 2005). Biobank/biorepository: An organized collection of human biological material and associated information stored for one or more research purposes 29e Confrence internationale des commissaires à la protection de la vie prive

42. P3G Charter of Fundamental Principles PROMOTION OF THE COMMON GOOD - P3G will optimise the benefits of collaborative research publicly-funded research for the benefit of all. RESPONSIBILITY - Protection of the interests of all affected stakeholders including families, groups, populations, researchers and research sponsors is the highest priority. Every effort will be made to respond to the concerns of stakeholders in a timely and appropriate manner. MUTUAL RESPECT - The development and sustainability of P3G is based on responsibility, collaboration, co-operation, trust and mutual respect for others, which includes recognition of cultural diversity and the scientific specificity of the projects involved ACCOUNTABILITY - All standards, processes and procedures will be transparent and clear, developed on the basis of consensus, and aim to create best practice in the networking of population genomics resources. PROPORTIONALITY - All research materials (such as data and sample) must be protected to the highest standards of privacy and propriety, while at the same time allowing and promoting the free exchange of ideas, data sharing and openness for the benefit of all. 29e Confrence internationale des commissaires à la protection de la vie prive

43. CARTaGENE project 29e Confrence internationale des commissaires à la protection de la vie prive

44. Samples and Data Access Policy Objectives of the project General Principles Samples and Data Access Committee Samples and Data Access Limits on the Use of CARTaGENE Privacy Concerns Access to Information for Participants Material Transfer Agreement 29e Confrence internationale des commissaires à la protection de la vie prive

45. HUGO Ethics Committee Statement on Human Genomic Databases, 2002 Recognizing The potential global good arising from genetic research; The scientific and clinical uses of genomic databases; The potential for conflicts between the free flow of information that is crucial to research advances and the legitimate rights to return from research expenditure; The potential risk of misusing genetic data; The need to rapidly place primary genomic sequences in the public domain. 29e Confrence internationale des commissaires à la protection de la vie prive

46. HUGO Ethics Committee (continued) Statement on Human Genomic Databases, 2002 Recommendations Human genomic databases are global public goods. Knowledge useful to human health belongs to humanity. Human genomic databases are a public resource. All humans should share in and have access to the benefits of databases […] 29e Confrence internationale des commissaires à la protection de la vie prive

47. Privacy & Population GenomicsA Real Marriage? « accepting benefit from past medical research, inherent in the utilisation of medical services, carries some expectation of a willingness to participate in research for the common good » Bioethics Advisory Committee, Personal Information in Biomedical Research, Singapore, 2007 29e Confrence internationale des commissaires à la protection de la vie prive