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Genetic variation and human health









The Royal Society, London, 6-9 Carlton House Terrace, London, SW1Y 5AG


History of science lecture by Ross MacFarlane

Organised by Professor David Goldstein, Dr Michael Stumpf and Professor Nick Wood

Everyone has a unique genetic makeup, differing from any non relative at millions of places in their genomes. A central challenge in biomedical research today is to identify which of these gene variants are relevant to disease risk and treatment response. At present, we are almost entirely ignorant of how this vast reservoir of genetic variation influences human health, but genetic and genomic technologies are developing rapidly, suggesting that our understanding of the genetic bases of common diseases and variable reactions to their treatment (pharmacogenetics) may grow rapidly in the coming years. Here we review some of the key elements of complex trait genetics and assess the prospects that it will deliver tangible improvements in healthcare in the near and medium terms. We also assess some of the ethical and political challenges that are likely to emerge, and we focus on how research efforts can be adjusted to meet some of these concerns. In particular, we discuss concerns that these approaches might benefit certain patient and ethnic groups more than others.

Meeting overview

Each of us has a unique genetic makeup, which differs from anyone not related to us at millions of places in our genomes. At the moment, we know very little about how this vast reservoir of genetic variation influences human health:  how it may increase our risk of developing certain diseases, and how it may determine the way we react to therapeutic drugs. Researchers expect to make significant progress in understanding these things because of their burgeoning ability to dissect and inspect our genomes, and to see how they work.

The way we react to drugs is largely determined by the patients' individual genome; and in future, doctors will refer to this before they prescribe a drug, to make sure that it is the right drug in the right dose for that patient. This is what is meant by pharmacogenetics. The meeting reviewed progress in the research aiming to put it into action, and in research trying to find out how the variations in our genome make us more susceptible to common diseases.

The meeting also dealt with methodological problems in the studies on these problems. It heard, as well, about ethical and political challenges which arise from the use of genomics in healthcare.

For a full summary of the meeting, please see the summary report on the right hand-side.

Genetic variation and human health The Royal Society, London 6-9 Carlton House Terrace London SW1Y 5AG UK