Led by Prof Mark Henaghan Multi-disciplinary & International incl Bioethics Centre

1. Led by Prof Mark Henaghan Multi-disciplinary & International incl Bioethics Centre richman.wee@otago.ac.nz Funded by Led by

2. Rethinking Privacy Safeguards for Emerging Technologies & Research in Genomics

3. Anonymity?

4. Sequencing the Human Genome *Many samples collected, few processed, ‘combined’ genome  donor identities protected **Made available publicly … but …

5. ‘Buy’ your personal genome ! 4 Mar 2008 “Big Spender Dan Stoicescu is paying a company to map his genome.” US$ 350,000 Knome’s first customer

6. The US$ 1000 Genome ! within a few days Univ of California at San Diego Scientists Win Grant to Develop $1,000 Sequencing Technology 9 Oct 2006

7. Current Genomics Research • Genome Wide Association Studies GWAS • rapidly scanningcomplete sets of DNA or genomes of many people • findgene variations associated with a particular disease • use information to detect, treat and prevent disease • ’eventually’ screen?

8. Current Genomics Research (2) • UK Wellcome Trust Case Control Consortium • Nature 7 Jun 2007 • largest ever genetics study of common diseases • 17,000 people in the UK & their DNA • £ 9 million • 40 research groups, 500 scientists, dozens of instns • analysed almost 10 billion pieces of genetic info, over 2 years

9. Emerging Ethical and Societal Expectations Re-contacting Participants * Unexpected discoveries * Incidental findings * Expectations and overseas consensus emerging among research, clinical, bioethics communities Withdrawal from ongoing & future research

10. Research Design, Practice & Regulatory Policy (2) Research Design - Maximum protection * Anonymisation (irreversible de-identification) But if should re-contact participants? * Need to re-identify So how? * Use coded info & tissue (reversible de-identification)

11. Research Design, Practice & Regulatory Policy (3) • ‘Coded’ • * A step away from being ‘anonymised’ – by • intentionally (or accidentally!) destroying the key • Selectively withholding particular genomic info • * limiting • * ‘degrading’ (masking, scrambling) • * removing uniquely/strongly identifying info • (rare gene variants)

12. Research Design, Practice & Regulatory Policy (4) • Separate regulatory regimes: • * Information – eg Privacy Act & HIPC • * Human Tissue – eg HDC Code of Consumers’ Rights • Tissue can & will continue provide great amount of information but, for wider sharing opportunities tissue is finite cf digital information about that tissue

13. What if ... ? … extract completely … data from human tissue … store in a digital medium eg external hard drive? many more steps away … but a step closer with each tech development & research A question of how fast & when ??

14. Projecting ahead ... So far, what to do if anonymisation desirable More challenging - over time, anonymisation truly achievable to protect privacy ?  rethink greater or different safeguards needed?

15. Statutory Provision? Protect Research Participants’ information * Power to issue statutory Certificate of Confidentiality * authorises Researchers to protect Participants’ identity * by withholding Participants’ identifying characteristics from those not connected with the research * Authorised Researchers may not be compelled to disclose – in any “civil, criminal, administrative, legislative or other proceedings” – information that would reveal the identity of research participants * eg Public Health Service Act 301 (d), 42 USC 241(d)

16. Jim Watson’s personal genome • Published and publicly available ... but • * partially withheld-Alzheimer’s risk • * Jim’s own health • * health status of family members • - grandmother • - his sister • - son Rufus

17. Rethinking Privacy Safeguards for Emerging Techs & Rsch in Genomics The ability to sequence, scan and screen – scary or savvy ? For a copy, go to ‘Resources’ @ www.otago.ac.nz/law/genome/