The Cardiovascular Genescreen combines diagnostic genetic testing with the integrative sciences of pharmacogenetics and nutrigenetics for targeted risk reduction intervention. The detection of genetic variation is interpreted together with a medical and lifestyle assessment to identify a combination of risk factors that, if left untreated, could cause or contribute to disease development. This approach is based on the knowledge that a single genetic risk factor such as heterozygous familial hypercholesterolaemia (FH) is not sufficient to cause cardiovascular disease (CVD). Treatment guided by genetic testing is aimed at reducing the risk of disease development or recurrence.
A recent study published in the New England Journal of Medicine has provided solid proof that assessment of a combination of carefully selected genetic markers could improve the determination of risks to individuals beyond standard clinical indicators. While each individual marker may exert a modest effect in isolation, a combination of functional genetic variations may have a substantial influence on the development or progression of particular medical conditions in any specific population.
Kathiresan S, Melander O, Anevski D, et al. Polymorphisms associated with cholesterol and risk of cardiovascular events. N Engl J Med 2008; 358: 1240-1249.
Kotze MJ, Davis HJ, Bissbort S, et al. Intrafamilial variability in the clinical expression of familial hypercholesterolemia: importance of risk factor determination for genetic counselling. Clin Genet 1993a; 43: 295-299.
Kotze MJ, de Villiers WJS, Steyn K, et al. Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations. Arterioscler Thromb 1993b; 13: 1460-1468.
Kotze MJ, Kriegshäuser G, Thiart R, et al. Simultaneous detection of multiple familial hypercholesterolaemia mutations facilitates an improved diagnostic service in South African patients at high risk of cardiovascular disease. Mol Diagn 2003; 7: 169-74.
Kotze MJ, Thiart R. Genetics of dyslipidaemia. CME Journal 2003; 21: 399-402.