Population screening for single genes that codetermine common diseases in adulthood had limited effects

Abstract

Background and Objective Familial hemochromatosis (FHEM), familial hypercholesterolemia (FH), familial mediterranean fever (FMF), and familial thrombophilia (FT) are relatively common genetically determined diseases of (early) adulthood. Chances, shortcomings, and practical aspects of population screening were considered. Methods The literature, as well as existing data concerning the treatment of these diseases in The Netherlands, were studied. Results In these four diseases there are so many modifying genes and environmental and lifestyle influences that accurate predictive testing at the population level is currently not sufficiently effective. The data indicate that the implementation of family clinics for FHEM and FH are necessary. There is need for further sociologic studies in the moslim population of Mediterranean and North African origin about acceptance of DNA diagnostics in relation to consanguinity and into the problem of “pseudodominance.” There seems no need for early detection and preventive measures for FT in asymptomatic persons. Conclusion No population screening for these four genetically determined diseases of (early) adulthood is sufficiently effective at the present time. We propose to call these diseases “chronic diseases with a single gene component.”