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Genetic markers to predict polygenic disease: a new problem for social genetics
1Department of Human Metabolism and Genetics, St. Bartholomew's Hospital, London, UK.
Summary
Genetic markers for common adult diseases are emerging, aiding diagnosis and therapy. However, complex gene interactions necessitate caution to prevent misapplication in risk prediction and other areas.
Area of Science:
- Genetics
- Medical Genetics
- Disease Prediction
Background:
- Over 15 years, numerous genetic markers for common adult multifactorial diseases have been identified.
- Examples include Factor V Leiden for venous-thromboembolism, lipoprotein lipase mutations for hypertriglyceridaemia, and apolipoprotein E4 for Alzheimer's dementia.
- These markers are beginning to be used in diagnosis, prognosis, disease prediction, and targeted therapy.
Purpose of the Study:
- To discuss the utility and complexity of genetic markers for multifactorial diseases.
- To explore potential misapplications of these genetic markers.
- To consider the implications for risk prediction, direct-to-consumer sales, life assurance, employment, and regulation.
Main Methods:
- Review of identified genetic markers for common multifactorial diseases.
- Analysis of gene-gene and gene-environment interactions.
- Discussion of potential misuses and regulatory considerations.
Main Results:
- Genetic markers for multifactorial diseases are increasingly available and finding clinical applications.
- Gene-gene and gene-environment interactions complicate their use compared to monogenic disorders.
- Potential misapplications exist in risk prediction, direct sales, insurance, employment, and regulation.
Conclusions:
- Genetic markers offer promise for managing multifactorial diseases but require careful interpretation.
- Understanding complex genetic interactions is crucial for appropriate clinical use.
- Ethical and regulatory frameworks are needed to prevent misuse of genetic information.