Valutazione del burden delle malattie genetiche in un ospedale pediatrico italiano e impatto sul Servizio Sanitario Nazionale (dati preliminari) [Poster ID 400]

[Autom. eng. transl.] INTRODUCTION Genetic diseases are associated with high morbidity, mortality and high socio-health and economic impact. In the last 40 years, few studies have investigated the frequency and impact of genetic diseases in pediatric hospitals. This project aims to evaluate, for the first time in Italy, the burden of genetic diseases and a large genetic component, at a national and international center of excellence for pediatric care - the Bambino Gesù Pediatric Hospital (OPBG) - in order to understand the implications for the NHS. METHODS A retrospective study of hospital activity data was conducted, on an annual basis (2014) and including ordinary admissions (RO) and day hospital (DH). RESULTS. More than 33% of ROs and 1.2% of DHs correlate with genetic diseases or a large genetic component. The largest volumes of hospital activity are correlated with congenital malformations (42.2%), somatic mutations diseases or tumors (18.4%) and multifactorial diseases (15.5%) (Figure 1). The percentage of extraregion patients is equal to 43.7%, of which 21.7% moves from their region due to congenital malformations, 7.6% for Mendelian diseases and 6% for oncological diseases. CONCLUSIONS Our data underline that today genetically determined diseases or those with a large genetic component represent one of the main health needs of the population. Knowing the overall "weight" of genetic diseases is of great interest to public health, as the care path of these patients is very expensive for the NHS. In this historical phase in which the sustainability of health systems appears strongly compromised, it becomes important not only to know the number of cases of pediatric patients suffering from genetic pathologies, but also to understand their impact on the NHS and to guarantee patients better planning of care services That they need.