Biobanks, Association Studies and Validity: Ethical, Legal and Social Challenges in Asia

Abstract

AbstractScientists are making attempts to develop a detailed understanding of the heritable variation in the human genome at individual and population level. It is claimed that population based genomics research will be crucial in understanding the differences in the human susceptibility to diseases, drug responses and the complex interaction of genetic and environmental factors in the production of particular phenotypes (DoH white paper 2003). These efforts led to the phenomenon of biobanking and setting up mega- genetic databases. Since the development of the Icelandic Health Sector Database, the biobanking phenomenon is taking up pace and several countries of the world are starting several large-scale population based genomics projects under the umbrella of biobanking and genetic databases. At the time of an increased interest in acquiring information on gene-gene interactions and gene-environmental interactions, it is important to acknowledge that although promising, these prospects face major scientific hurdles and ethical questions in practice. The definitions, applications and prospective implications of genetic databases and biobanks on health and healthcare are understood and implied in several ways both in clinical and biological research. The term genetic database can imply to a collection of biological material (biobank) from which genetic information, for example genealogical and clinical information can be derived, systematically organized and used for research purposes. Different countries have used different terminologies for their collections of biological materials and have organised genetic information in large databases. Sometimes the term biobank also includes a complex network of databases assembled and accredited in one system. COGENE, the ‘Coordination of Genome Research Across Europe’ refers to biobanks as cohort studies. Cohort studies involve comparative studies between a diseased group with some common parameters such as geography, age, employment, a disease condition or any other determinant within a general group. The groups are compared for a long period of time for specific tests. For instance, the unified database of the Latvian Population is popularly called the Latvian Genome Project. The Latvian Project aims to create ‘a unified national network of genetic information and data processing, to collect representative amount of genetic material for genotyping of the Latvian population and to compare genomic data with the clinical information and the information available about specific pedigrees’ (Pirags and Grens 2005). Genomic data will contain the sum-total of genetic information in the entire DNA of the Latvian population. Other examples are the UK population-based genetic database, which has started under the name of the UK Biobank. It involves systematic collections of biological samples and medical and genetic information. The Estonian Genome Project uses the concept of Gene bank to refer to its genetic database. Gene banks and genomic banks are similar in that they contain large sets of genetic information in the form of datasets and sequences of the population.