Old and simple tools may do better—sometimes
Author(s) -
Heribert Schunkert
Publication year - 2002
Publication title -
european heart journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.336
H-Index - 293
eISSN - 1522-9645
pISSN - 0195-668X
DOI - 10.1053/euhj.2002.3356
Subject(s) - medicine , simple (philosophy) , intensive care medicine , epistemology , philosophy
Currently, a positive family history is the clinicians guide to the genetic background of most pertinent cardiovascular diseases. With the human genome project being in good progress it is foreseeable that more precise instruments will assist individual risk prediction in the near future. Indeed, knowledge of the human master code will sharpen the view on genes enormously and, thus, facilitate identification of variants that are responsible for inherited disorders. Unfortunately, with respect to the cardiologist’s needs, the diseases to be unravelled are complex in many ways. First, common cases of diabetes, hyperlipidaemia, hypertension or left ventricular hypertrophy are unlikely to be the product of single gene mutations. Rather, the interactions of multiple genes, environmental factors, and the play of chance (the interactome, Fig. 1) determine the individual risk profile. With respect to end-organ damage, further unknown variables enter the equation. Cracking this equation is a deep problem for geneticists or biostaticians alike. Being a clinician, one might say that careful exploration of family history is fine for the moment to estimate the genetic risk component. Indeed, the predictive value of a positive family history for myocardial infarction or stroke is better than that of any specific genetic variant, even now in the early post human genome era. Nevertheless,
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