What are human genetic research databases?

18.7 The term ‘human genetic database’ may refer to many kinds of collections of genetic samples and genetic and other health information. Genetic samples contained in research collections can include a wide range of human biological materials such as extracted DNA, body fluids, cells and sections of tissue. The information in a human genetic database may include molecular genetic data, standardised clinical data, genealogical data, and information on the health, lifestyle and environment of an individual.^[5]

18.8 This chapter uses the term ‘human genetic research databases’ to refer broadly to collections of genetic samples and genetic and other health information, in any combination, which have been established for the purpose of human research. Some databases may be maintained for the study of a specific genetic condition; others will be used in many types of genetic research. However, the unifying element is that human genetic research databases have been created primarily for the purposes of medical or other human research. In contrast to samples and information contained in archival pathology collections and other human tissue collections (see Chapter 19), the samples and information in human genetic research databases are stored with consent for their possible use in research projects, which are submitted to a Human Research Ethics Committee (HREC) for approval, and for which further specific consent is sometimes required.

18.9 Other terms such as ‘biobank’, ‘gene bank’ and ‘tissue bank’ have also been used to denote what this chapter refers to as human genetic research databases. In Australia, the term ‘tissue bank’ is often used to denote collections of genetic material that may be used in human genetic research—for example, the Peter MacCallum Cancer Institute (PMCI) Tissue Bank.

18.10 These additional terms demonstrate the lack of consensus over what is meant by a genetic database, which itself stems from the diversity of existing collections. For example, the term ‘biobank’ has been used in Sweden and the United Kingdom. In the United Kingdom, the UK Biobank project encompasses the collection of blood samples and health and lifestyle information.^[6] In Sweden the term has been used more restrictively to mean collections of identifiable tissue specimens.^[7] Legislation establishing the Estonian Genome Project defines a ‘gene bank’ as

a database established and maintained by the chief processor consisting of tissue samples, descriptions of DNA, descriptions of state of health, genealogies, genetic data and data enabling the identification of gene donors.^[8]

Research value

18.11 Much of the research value of human genetic research databases is derived from linkages created between clinical, personal and genetic information. Examining these linkages is an important tool in identifying the genetic causes of disease and in other forms of human genetic research.

18.12 Different forms of genetic research can be conducted using human genetic databases. These include:

• linkage studies to identify the gene sequences associated with inherited diseases;

• association studies to find correlations between a disease and a genetic change where there is no obvious pattern of inheritance;

• genetic epidemiology studies of the interaction between genes and environment; and

• pharmacogenetic studies to determine if there is a genetic basis for certain adverse reactions to drugs.^[9]

18.13 Each of these studies requires access to a different type of human genetic database, or uses databases in a different way, and may raise different issues.^[10] Some linkage studies map genetic sequences to identify genetic changes linked to the existence of an inherited disorder, where a distinct familial pattern of disease inheritance can be seen. They require collections of tissue taken from family members and information about which members suffer from the disorder.^[11]

18.14 By contrast, association studies require large collections of samples from people with a given condition, combined with detailed medical histories. These studies examine the genetic causes of diseases that do not follow a clear inheritance pattern, and attempt to make statistical correlations between gene sequences and a disease. Large populations are studied because such diseases may show a marked genetic cause in only some individuals, or a weak genetic cause in many individuals. Large populations also increase the accuracy of statistical correlations.^[12]

18.15 Genetic epidemiology studies examine the interaction between genetic and environmental factors in causing diseases and susceptibilities. Studies of this type require access to very large population collections as well as detailed medical histories.^[13]

18.16 Databases are particularly valuable for pharmacogenetics—the study of genetic causes of variable drug responses. By linking clinical records with genetic information, databases correlate the effects of medication and variations in genetic makeup on a scale large enough to produce statistically significant results. As a result, many pharmaceutical and biotechnology companies seek access to human genetic databases, or build their own collections.

Types of human genetic research databases

18.17 Human genetic research databases vary in scale from limited collections, created for a specific study or series of studies, to major population databases that store samples and information from very large sections of a population and are used for different studies over many years. Research databases may be established by research organisations for use in their own studies or they may be established on a commercial basis for sale to interested researchers or research organisations.

18.18 In Australia, most human genetic research databases have been established by research organisations for use in their own studies.^[14] For example, the Menzies Centre for Population Research maintains a research database comprising extensive genealogical data, genetic samples, and health information supplied by donors, to search for genetic causes of disease. All material is donated by volunteers specifically for the Centre’s research projects.^[15] Sometimes, research databases are established by research organisations connected with hospitals and other health care organisations. For example, the PMCI Tissue Bank was established in 1998 to conduct molecular genetic studies in cancer.^[16] Cancerous tissue is obtained from patients via surgical and pathology staff attached to the PMCI.

18.19 Although not yet a feature of Australian research culture, donor tissue banks are being constructed on a commercial basis in the United States. Such banks collect tissue from hospitals and process them ready for research. The banks themselves do not conduct research, but sell processed tissue to researchers at other institutions. An example is Gene Logic, a US tissue repository containing more than 10,000 tissue samples that are made available to researchers and pharmaceutical companies. Samples are supplied by hospitals once consent has been given.^[17]

18.20 Human genetic research databases may also be created on a grand scale to encompass the genetic samples and information of large sections of the population. These databases may be used for a wide variety of research projects by different groups of researchers. The Estonian Genome Project, the Iceland deCODE project and UK Biobank are examples of such databases.

18.21 In Estonia, a non-profit government project to form a database of the genetic information from three-quarters of the country’s population is underway. The centralised electronic database will contain blood samples and health data information, each collected and stored separately, for use in large-scale association studies. Control of the database is split between the Estonian Genome Project Foundation (the government body that will own the database) and EGeen (the exclusive commercial licensee that also finances the project). EGeen will have access to the database for research into the causes of disease and to develop drugs and treatments.^[18]

18.22 A similar project has already been undertaken in Iceland by deCODE—a company that holds an exclusive licence to create and operate a database of genetic and other health information, known as the Iceland Health Sector Database. The project brings together three types of information—coded health information taken from Iceland’s national health care system records, genealogical data, and genetic information from samples obtained and analysed with the consent of Icelandic donors.^[19]

18.23 Both these projects involve an exclusive licence for access to medical and genetic information, and to genetic samples, demonstrating the growth of major commercial interest in databases. In each case, genetic information is not publicly available, but is controlled in part by commercial entities.

18.24 A different approach to the development of a major genetic research database has been taken in the United Kingdom. UK Biobank is a publicly funded project to collect samples and health information from 500,000 volunteers. The project aims to provide sufficiently comprehensive health information and a large enough sample size to enable more effective studies of the interactions between genotype and environment. Participants will supply updated medical and environmental exposure information every five years.^[20] Researchers will be given access to the central database following application and approval from an oversight body.^[21]