Introduction

18.1 Increasingly, researchers are compiling collections of genetic samples and information to aid studies into the causes of disease, drug reactions, and the interaction between genetic status and the environment. The importance of human genetic databases has come in part as a result of developments in the field known as ‘bioinformatics’. Bioinformatics combines computer science, biology and mathematics to produce tools that enable the storage and analysis of large quantities of biological information.^[1] The advent of this science has lent new value to large collections of genetic material and information, allowing researchers to perform studies on a scale impossible previously.

18.2 This chapter is concerned with the collection, use, storage, disclosure and transfer of genetic samples and information that have been collected primarily for use in research and are held in collections by hospitals, public and private research organisations, and in the archives of pathology laboratories.

18.3 Other collections of genetic samples and information exist, which can be used in research, although they were not created primarily for that purpose. These include pathology collections, banked tissue, newborn screening cards, and other collections, such as those maintained as part of a population screening program. Collections of this kind may have great value for research because they include samples taken over a long period of time, or from a unique class of patients. These databases are examined in Chapter 19.^[2]

18.4 This chapter begins by explaining the terms ‘human genetic database’ and ‘human genetic research database’ and describes (with reference to Australian and overseas examples) how these databases are formed and how they are used in research.

18.5 The chapter then examines aspects of the existing regulatory framework that applies to the operation of human genetic research databases. As with other aspects of research involving humans, the relevant regulatory framework centres on the National Health and Medical Research Council’s (NHMRC) National Statement on Ethical Conduct in Research Involving Humans (the National Statement)^[3] and on statutory restrictions on dealing with personal information under the Privacy Act 1988 (Cth) (Privacy Act)^[4] and similar state and territory legislation.

18.6 The Inquiry has concluded that new regulation of human genetic research databases is necessary. The Inquiry has taken a ‘light-touch’ approach, recommending the inclusion of new provisions in the National Statement to provide ethical guidance on the operation and use of human genetic research databases. The Inquiry also recommends the introduction of a registration system, administered and overseen by the NHMRC, and the use of a gene trustee to protect the privacy of samples and information held in databases, where appropriate. In addition, the Inquiry is of the view that policies should be developed to control the use and disclosure of genetic samples and information held in human genetic research databases for other purposes, including law enforcement.