Centre for Law and Genetics

Personalised Medicine

The Age of Personalised Medicine: Regulatory Challenges for Australia

External Collaborators: Prof Ryuichi Ida, Prof Tim Caufield, Prof Bartha Knoppers, Prof Graham Laurie, Prof Alistair Campbell, Prof Chien-Te, Prof Jane Kaye, Prof Eric Meslin
UTAS Collaborators: Assoc Prof Jo Dickinson, Dr Rebekah McWhirter, John Liddicoat
Funding Source: ARC DP110100694
Commencement Date: 2011-2015
Project Status: Completed

Researchers

Research Background

The age of personalised medicine has brought new medical possibilities built around personalised therapies tailored to an individual's genetic characteristics. Many elements make up this medical advance, including whole genome sequencing, biobanking, improved technical capacity to link large-scale data collections, broader availability of diagnostic genetic testing and linkage of diagnostic testing with drug delivery to create new personalised medicines. Concomitantly, there has been increasing commercial involvement in each of these elements. As such personalised medicine raises layers of ethical, regulatory and social complexity and implications for maintaining public trust.

The regulation and governance of biobanking has been one particular focus for our research efforts. Biobanks are essential tools for facilitating personalised medicine because they provide collections of human tissue linked with personalised information. In the last twenty years we have seen increasing numbers of large-scale population-wide biobanks, with their own ethics and governance frameworks. A raft of policies and guidelines have also been developed by a range of different groups. Questions around the development of appropriate regulatory and governance frameworks for the regulation of human genetics in general and biobanking in particular have become even more complex as a new phase is emerging, involving the harmonisation of biobank collections and data sharing to facilitate coordination of research efforts internationally. Increasing commercial interest in use of biobank resources for research purposes adds a further layer of complexity.

In the context of downstream clinical service delivery, technological advances have opened up a market in cheap direct to consumer (DTC) sequencing and genetic risk analysis. We are moving to a world of DTC medical delivery, bypassing the doctor, which will have international ethical, regulatory and social dimensions. Concerns are also being raised about the accuracy of the predictions made by DTC testing companies, and the potential harms to consumers, particularly in an environment where there is typically no genetic counselling.

About the Project

This project addressed a number of key questions.

  1. How do we create an optimal regulatory and governance framework for biobanking? There cannot be a single one-size-fits-all governance model for biobanks and other tissue repositories. Local governance models will be needed, which recognise cultural, regulatory, healthcare and commercial differences between countries.
  2. How do we reconcile challenges brought about by biobanking to traditional notions of consent, privacy and public trust? These challenges are particularly pertinent for large-scale population biobanks which involve: long-term tissue and data storage; large collections; multiple research projects, often involving different research teams in different countries; and future research which is unlikely to have been clearly defined when the biobank was created.
  3. Should we be concerned about the changing models of genetic testing, particularly the move away from the clinic and into the web? Is it possible to regulate the largely online DTC testing industry, and does it actually need to be specifically regulated?
  4. How can we ensure that data linkage and data sharing can be appropriately regulated in a way that ensures research advantages and their translation to practical health outcomes but at the same time addresses the serious privacy concerns that are raised?
  5. How can the current clinical trials system be adapted to ensure that the safety and efficacy of personalised medicines are appropriately examined and verified, in circumstances where large-scale multi-centre trials will no longer be feasible?

This study critically analysed and mapped Australian developments in the age of personalized medicine, and assessed what was required to manage the key issues and promote proper regulation of this area.

The aims of this project were to:

  • Analyse community attitudes towards biobanking (see The Biobank Project Tasmania)
  • Analyse public attitudes to commercialisation in this context.
  • Develop recommendations for best practice governance of biobanking in Australia, taking into account community attitudes.
  • Map the DTC genetic testing industry sector in Australia.
  • Develop recommendations for regulatory reform of diagnostic genetic testing, with particular focus on DTC genetic testing.
  • Analyse and make recommendations on consumer protection concerns relating to DTC genetic testing. This was a PhD project undertaken by Jan Charbonneau
  • Analyse reform options relating to the Australian clinical trials system in respect of personalised medicines.