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GENETIC TESTING - PART I
Pignatti P. F.
Dipartimento Materno-Infantile e di Biologia-Genetica, Sezione di Biologia e Genetica, Università degli Studi, Verona, Italy
Cardiovascular diseases (CVD) are a good model of genetic testing of multifactorial disorders. A few polymorphisms in different genes related to some of the best known etiopathogenetic pathways are known. Genotyping for these variants may offer preventive or therapeutic advantage. Four examples are given: the C677T mutation in the methtylene tetrahydrofolate reductase (MTHFR) gene, and folate supplementation; the Leiden mutation in anticoagulation factor V (FV) gene, and discontinuation of oral contraceptives; the insertion/deletion mutation of the angiotensin converting enzyme (ACE) gene, and prevention of hypertensive progression of renal disease; the Taq I B mutation of the cholesterylester transfer protein (CETP) gene, and choice of lipid lowering drug. Population differences in the frequency of these polymorphisms have been described, and data are given on the Italian population. Genetic testing of CVD and of other multifactorial disorders is in its infancy. It is suggested that progress in functional genomics and in analytical approaches to association studies is needed, and that confidentiality issues have to be addressed. It is easy to predict that the use of genetic tests for determining an individual’s predisposition to common disorders will soon become more common than testing for genetic diseases. Medical genetics education of health professionals in the difficult art of counselling for genetic risks to multifactorial disorders has correspondingly to be dramatically fostered.