Aproximación al concepto de prevención cuaternaria en Genética y Dismorfología Clínica

Abstract

Preventive medicine is an important area of health care, mainly in Primary Health Care. Because it is acted on healthy people (in Genetics and Dysmorphology mainly in foetal and neonatal period), preventive medicine needs even stronger supporting evidence (on benefits, harms and costs) than therapeutic and/or diagnostic interventions. The aims of this article are: a) to present the theorical concepts related to screening test in Genetics and Dysmorphology for early diseases detection, with special attention to main potential harm in overdiagnosis (false positive), causing unnecessary anxiety and intervention, and also to screening bias; and b) to present the interesting relation between preventive medicine with two new concepts (quaternary prevention and cascade effect), because it is important to know the clinical and ethical implications of screening programmes and to achieve and evidence-based decision-making in this outstanding area of health. Quaternary prevention is a new concept in preventive medicine (beyond the classical primary, secondary and tertiary prevention) whose objective is to avoid and/or to diminish the unnecessary medical intervention, and is the practical version of the "primum non nocere". Quaternary prevention has a multifactorial origin, in relation to social, cultural, economic, political and/or medical factors. Today, we have the danger to happen towards the "risk culture" and, consequently, to the diagnostic, therapeutic and/or preventive excess, named as cascade effect, with clinical and ethical implications in medical practice. Genetic testing of children is an interesting field in this area of preventive medicine. It is clearly appropriate to perform genetic testing of minors when the problem in question can be rectified, treated, or prevented but the decision is difficult when the risk from the test may be significant, the statistical risk of disease is minimal, and the benefit or early diagnosis is small. Hereditary haemochromatosis, by example, would seem to be an ideal disease for community population-screening with genetic testing, but the major concerns have been the uncertainty surrounding the natural history of untreated disease, informed consent, labelling and stigmatisation among participants that may never develop illness, and genetic discrimination. In Dysmorphology is interesting to know the real value of "guide signs" for posterior diagnostic and screening tests, and we expose to examples on the matter: developmental dysplasia of the hip and Prader-Willi syndrome.