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Impact of genetic testing on complex diseases
M J E van Rijn1, C M van Duijn, A J C Slooter
1Genetic Epidemiology Unit, Department of Epidemiology & Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands.
European Journal of Epidemiology
|August 6, 2005
Summary
Genetic testing shows potential for secondary stroke prevention but is unlikely to improve risk assessment or prognosis in common disorders. Further research is needed to optimize its clinical utility.
Area of Science:
- Genetics
- Neurology
- Clinical Medicine
Background:
- Genetic testing is increasingly discussed for complex diseases.
- Its clinical utility in common disorders remains unquantified.
- Ischemic stroke serves as a model complex disease.
Purpose of the Study:
- To quantify the theoretical utilization of genetic testing in common ischemic stroke care.
- To assess the impact on risk assessment, secondary prevention, and prognosis.
Main Methods:
- Modeling the impact of hypothetical genotypes with varying frequencies and effects.
- Calculated the number of patients needed for screening and genotype-specific treatment for secondary prevention.
Main Results:
- Genetic testing for pharmacogenetic secondary prevention could prevent one recurrent stroke per 204 screened and 110 treated patients.
- The impact on risk assessment and prognosis appears limited for common ischemic stroke.
Conclusions:
- Genetic testing holds the most promise for secondary stroke prevention.
- Its application for risk assessment or prognosis in complex disorders is theoretically unlikely due to weak genotype effects.
- Exceptions may include Mendelian diseases.