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Q J Med 1999; 92: 223-232
© 1999 Association of Physicians

Commentary

Genetic markers to predict polygenic disease: a new problem for social genetics

D.J. Galton and G.A.A. Ferns1

From the Department of Human Metabolism and Genetics, St. Bartholomew's Hospital, London, and 1 Centre for Clinical Science & Measurement, School of Biological Sciences, University of Surrey, Guildford, Surrey, UK

Professor D.J. Galton, Department of Human Metabolism and Genetics, St Bartholomew's Hospital, London EC1A 7BE

Many genetic markers that relate to common multifactorial disease in adults have been identified during the past 15 years. Their use as adjuncts for the diagnosis, prognosis, prediction of disease or targeting therapy for these disorders has begun, good examples being the Factor V Leiden mutation for venous-thromboembolism, lipoprotein lipase mutations for hypertriglyceridaemia and the apolipoprotein E4 variant for Alzheimer's dementia. However, extensive gene–gene and gene–environment interactions make their use more complex than markers for the simpler monogenic disorders (such as cystic fibrosis, or Duchennne's muscular dystrophy). Possible misapplication of the genetic markers for multifactorial disease in the fields of risk prediction, direct sales to the public, life assurance, employment rights, and legislation for regulation of their use are discussed.


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