Charities Commission Registration CC22512

The Human Genome Project: Implications for Health and Disability / Ethical, Legal and Social Issues

In the past it was possible to work out where genes were located on a chromosome, and what effect a mutation in a gene would have in causing some diseases or disabilities. But this was a very slow process and there was only a gradual increase each year in the knowledge about certain genes and their functions. The use of powerful computers and new biotechnological processes enabled the Human Genome Project and other research scientists to speed up this process considerably.

The most significant direct outcome of this project has been the rapid gathering of a very significant amount of information and understanding about how many of our genes work, and what disease or disability is caused if the gene does not work correctly. Although much progress has been made since the project was completed in 2003, a lot of work is still required to identify the function of particular genes, and understand the action of the proteins they express.

The next implication of this increased knowledge will be a much greater technical capacity to intervene to change things. This was described by the former Director of the National Human Genome Research Institute, Francis Collins, as providing "insights that will give health care providers immense new powers to treat, prevent and cure diseases". This could lead to:

• understanding the function of a very large number of genes, and their relation to disease and disability
• more opportunities for testing embryos, foetuses or people for defects in the gene
• faster and more accurate diagnosis of diseases and disability
• greater scope for the development of treatments to correct defects in the gene (genetic modification technology or other new biotechnology therapies)
• widespread application of other interventions to compensate for genetic faults (e.g. developing targeted drugs)

But the pace of this knowledge gain has been unsettling for many people. The technical possibilities have at times appeared to be ahead of the community's ability to understand them, absorb the implications, and deal with the ethical, legal and social concerns that have often arisen.