ABSTRACT
The term ‘biotechnology’ encompasses the application of advances in our knowledge of cell and molecular biology since the discovery of DNA to the diagnosis and treatment of disease. Recent progress in molecular genetics, cell biology and the human genome has assisted the discovery of the mechanisms and potential therapies of disease. The identification of a nucleotide sequence that has a particular function (e.g. production of a protein), coupled with our ability to insert that human nucleotide sequence into a bacterial or yeast chromosome and to extract from those organisms large quantities of human proteins, has presented a whole array of new opportunities in medicine. (Human gene sequences have also been inserted into mice to develop murine models of human disease.) In 1982, the first recombinant pharmaceutical product, human recombinant insulin, was marketed. Since then, more than 100 medicines derived via biotechnology have been licensed for use in patients, whilst hundreds more are currently undergoing clinical trials. Successes include hormones, coagulation factors, enzymes and monoclonal antibodies, extending the range of useful therapeutic agents from low molecular weight chemical entities to macromolecules. Once discovered, some biotechnology products are manufactured by chemical synthesis rather than by biological processes. Examples of recombinant products are listed in Table 16.1. In parallel with these advances, the human genome project is establishing associations between specific genes and specific diseases. Detailed medical histories and genetic information are being collected and collated from large population samples. This will identify not only who is at risk of a potential disease and may thus benefit from prophylactic therapy, but also who may be at risk of particular side effects of certain drugs. This carries potentially momentous implications for selecting the right drug for the individual patient – a ‘holy grail’ known as personalized medicine. Achieving this grail is not imminent. It is not just the physical presence but, more importantly, the expression of a gene that is relevant. Often a complex interaction between many genes and the environment gives rise to disease. Despite these complexities, the human genome project linked with products of recombinant DNA technology, including gene therapy, offers unprecedented opportunities for the treatment of disease.
