1. Governing Biobanks: Challenges and Perspectives Chih-Hsing Ho, PhD Centre for Medical Ethics and Law The University of Hong Kong chihho@hku.hk

3. “ Organic Bank Account ” To safeguard people ’ s most valuable assets. Rather than depositing money in a personal bank account, it is a repository for people to put in their biomaterials - blood, tissue samples and DNA - in order to earn medical interest some later day in the form of new knowledge and therapies for diseases. (TIME, March 2009)

5. What does this organic bank look like in reality….?

10. What does the term “biobank” refer to?

11. Different Names?  “ genetic databases ” ?  “ biosample repositories ” ?  “ tissue banks ” ?  Collections of human biological materials (samples) + information linkage (data)

12. OECD Guidelines on Human Biobanks and Genetic Research Databases (2009) structured resources that can be used for the purpose of genetic research, and which include: (a) human biological materials and/or information generated from their analysis; and (b) extensive associated information

13. Different Types of Biobanks  Taking into consideration the biobanks’ nature, purpose and scope  Sampling: Disease-oriented vs. Population-based biobanks  Business models: commercial vs. non-commercial biobanks  Funding: public vs. private biobanks  Scale: large vs. small (regional) biobanks

14. Types of Samples & Data Stored (source: Biobanks in Europe, European Commission IPTS, 2010) Types of Materials Stored Types of Data Collected and Stored

15. Biobank Composition and Purpose (source: Biobanks in Europe, European Commission IPTS, 2010) OwnershipResearch Models

16. Common Features of Biobanks  Have an ongoing and open-ended nature, namely involving unspecified research in the future that challenges the traditional practice of informed consent.  The banked samples and data need to remain potentially re-identifiable  Have a common good focus, more concerned with the public benefit future generations than with the individual benefit of participants themselves.

17. Why do we need biobanks?

18. We need larger sample sizes to support in depth sequencing of large cohorts…

19. Comprehensive biobanking is gradually maturing..

20. The way of sample handling (and storage) has improved significantly over the last few decades Before (1970s) Now (2009)

21. We need biobanks..  To Provide larger sample sizes, accurate DNA concentration and better DNA quality for genomics research  Genomics studies often require sample aggregation from multiple biobanks  Biobanks now emerging as powerful tools in post-genome translational research

22. Purposes & Application  To find out the causes of diseases, namely to find out the interaction between genetic factors underlying common complex diseases (such as asthma, diabetes, and heart disease), which are caused by a combination of genetic variants and environment factors rather than by individual genes.  Translate biomedical research into diagnostic and therapeutic applications through pharmacogenomics to achieve personalised medicine and improve public health.

23. Driving Forces: the Completion of the Human Genome Project (HGP)

24. From Genetics to Genomics  The information coming from the HGP makes possible the study of human genome, namely the entirety of human hereditary information.  The focus of genomics was no longer on single genes or its disorders but on interactions of those genes with each other and with the environment as well.

27. The Low-cost sequencing.. “$1,000 Genome’ is not a question whether it is possible, but when it will be realized. It is unimaginable only 4 years ago.” (Nature, 2007)

28. Personalised Medicine “In a handful of years, your doctor may be able to run a computer analysis of your personal genome to get a detailed profile of your health prospects.” (Newsweek 15 Oct 2007)

29. GWA Studies  A new method for scientists to strategically search genetic makers that involves rapidly scanning SNPs across the complete set of human genomes to find genetic variations associated with a particular disease.  SNPs- single nucleotide polymorphisms- the most common type of genetic variation in individual bases that can be used as makers to locate and identify genes in DNA sequences.

30. What does it mean if a human genome sequence costs less than $1,000?

31. Personalised Medicine Reactive medical treatment  Clinical diagnosis and treatment was based on patients’ symptoms and their medical and family history.  Medication in clinics started only after the symptoms appeared. Proactive medical treatment  The idea of customisation of medical treatment in healthcare  All medical decisions and treatment, including preventive and therapeutic care being tailored to adapt to each individual’s particular genetic makeup.

32. The changing landscape of post-genome science means  Biobanks and collections becoming bigger  Biobanking becoming a specialist and centralised infrastructure (core facility)  Better quality samples and automated tracking  Collaborative biobank networks for international sharing and harmonisation

33. Biobanking as a Global Phenomenon - Europe (Iceland, the UK, Sweden, Norway, Estonia, Germany, Spain, Italy), - The United States and Canada - East Asia: Taiwan Biobank, China Gene Bank, China Guangzhou Cohort, Biobank Japan - South East Asia: Singapore Bio-Bank (established in 2002, closed in June 2011 (cost around USD 1 million a year to process about 10,000 samples)

34. Biobank Networking: International Infrastructure for Harmonisation  P3G: Public Population Project in Genomics, an international consortium aims to build a network for sharing and harmonization of governance framework for the population genomics community across the globe.  BBMRI: a pan-European Biobanking and Bimolecular Resources Research Infrastructure covers 30 countries, including 280 associated organizations, most of which are biobank of various types. Aims to provide a sustainable legal framework to benefit European research in life sciences.

35. BBMRI Infrastructure

36. International framework supporting networking among independent population-based biobanks (Source: Biobanks in Europe: Prospects for Harmonisation and Networking, 2010)

37. P3G Sample and Data Access Policies (Core elements) Conditions of Use:  Compliance with original consents and applicable laws and institutional policies  Access granted for a limited time period (e.g., 6 months or a year), after which the recipient must reapply  Primary data must not be patented  Informing the resource of issues related to data integrity as applicable

38. Biobank Dilemmas:  Privacy, Confidentiality (Data Security) vs. Data Sharing  Broad Consent vs. Specific Consent  Networking vs. Harmonisation  Feedback vs. Right not to know  Access policies and procedures

39. Legal and Regulation Challenges  Self-governance (IRB/EGC) or Legislations (Biobank Act)  Variation in applicable laws and regulations in different regions and countries  Lack of transparent access policies and procedures  How to set up a suitable governance framework & responsible stewardship maintaining public trust of biobanks

40. Why are biobanks controversial? (social challenges)  Genetic exceptionalism & Stigmitisation  Privacy and Surveillance  Fears of privatisation and commercialisation (commercial companies ‘owning’ the genetic heritage of a population)

41. Different Layers of Consent (Source: Hansson et al) Blanket Consent Consent to Biomedical Research Consent to Research on Specific Disease Consent to a Specific Study

42. Consent and Privacy  Individual consent? Group consent?  How to define groups?  Who can represent the groups to give consent?  Confidentiality: anonymous; coding; double-coding?  Privacy: autonomy to decide how to use genetic information

43. Property and Commodification  Human tissue: gifts or commodities  Human tissue and genetic information have been transformed into useful resources of biovalue.  A gift model implies a tendency to avoid the recognition of participants as stakeholders and the rearrangement of entitlements for a share of profits

44. An “upstream ethics”  Strong provisions on “consent & privacy”, but weak provisions on “access & ownership.”  The consent mechanism may satisfy the general expectation of good ethics at the expense of substantive deliberation of the rearrangement of rights and benefits related to biobanks.  Confidentiality: narrow view of privacy

45. Public Engagement in Biobanks  A crucial challenge is the question of how to link biobanks with the general public and society.  Treating patients and participants as biobank stakeholders rather than only donors (gift givers).  The perception of biobanks in society as key resource for the advancement of heath care in the welfare state.  Trust and transparency: gaining legitimacy for biobanks

46. Future Direction of Biobanking  Provide a baseline for operating standards on which to build as the state of the science evolves (National Cancer Institute, USA)  Network development for sample and data sharing (P3G, BBMRI)  Harmonise policies and procedures for biobanks  Public engagement is considered the key to achieve good outcomes in biobank governance  Redistribution of benefits and power in Biobanks

47. Thank you for your attention!