Led by Prof Mark Henaghan

Multi-disciplinary & International

incl Bioethics Centre

richman.wee@otago.ac.nz

Funded by Led by

Rethinking Privacy Safeguards

for

Emerging Technologies &

Research in Genomics

Anonymity?

Sequencing the Human Genome

Human Genome Project*

2003 12 to 13 years

US$ 2.3 billion

Jim Watson’s**

2007 2 months ~ US$ 1 million

*Many samples collected, few processed, ‘combined’ *Many samples collected, few processed, ‘combined’ genomegenome donor identities protecteddonor identities protected**Made available publicly … but …**Made available publicly … but …

‘Buy’ your personal genome !

4 Mar 2008

“Big Spender Dan Stoicescu is paying a company to map his genome.” US$ 350,000

Knome’sfirst customer

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

Current Genomics Research

Genome Wide Association Studies GWAS

rapidly scanning complete sets of DNA or genomes of many people

find gene variations associated with a particular disease

use information to detect, treat and prevent disease

’eventually’ screen?

Current Genomics Research (2)

UK Wellcome Trust Case Control Consortium

Nature 7 Jun 2007

largest ever genetics study of common diseaseslargest ever genetics study of common diseases

17,000 people in the UK & their DNA17,000 people in the UK & their DNA

££ 9 million 9 million

40 research groups, 500 scientists, dozens of 40 research groups, 500 scientists, dozens of instnsinstns

analysed almost 10 billion pieces of genetic info, analysed almost 10 billion pieces of genetic info, over 2 yearsover 2 years

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

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)

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)

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

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 ??

Projecting ahead ...

So far, what to do if anonymisation desirable

More challenging - over time,

anonymisation truly achievableto protect privacy ?

rethinkgreater or different safeguards needed?

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)

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

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/