ABSTRACT
The Human Genome Project and the "-omics" technologies will in future provide genetic maps and biosynthetic pathways permitting personalized medical interventions directed at maintaining or restoring wellbeing. This is reflected in the strategy aims of 4P medicine in being: predictive, preventive, personalized, and participatory. The results obtained in the field of cystic fibrosis, with the cloning of CFTR gene, and use of Kalydeco®, have demonstrated how using the mentioned strategies could also have success in rare disease management. Kalydeco® is the emblematic example demonstrating the indispensable role of an active patient participation in fully achieving the P4 medicine goals. It is actually the patient involvement that will furnish the fundamental data necessary in defining molecular profiles specific to the health status of any patient. These molecular profiles will contribute in planning preventive, and/or therapeutic interventions aimed at maintaining, and/or restoring the health conditions. Hence, for a correct and effective implementation of P4 medicine, researchers and healthcare professionals should always consider the psychological experiences and characteristics of their patients and families; making them all participants in formulating an appropriate therapeutic path. In achieving this, it will not only be necessary to consider and use concepts of vulnerability and resilience, particularly in the rare disease field, where patient fragility is high, and caregivers are often faced with unique and difficult issues, never confronted before.
Subject(s)
Human Genome Project , Rare Diseases/therapy , Aminophenols/therapeutic use , Cystic Fibrosis/genetics , Cystic Fibrosis/therapy , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Humans , Precision Medicine/methods , Quinolones/therapeutic useABSTRACT
BACKGROUND: Italian cardiac surgery units have changed in their characteristics over time. These changes have to be monitored. At the moment, there are no regular monitoring systems that could be used to support the processes of evaluation of performance. The Italian Institute of Health has recently started a national prospective study on the short-term outcomes (within 30 days mortality) of coronary artery bypass graft procedures. This study has been preceded by a cross-sectional investigation on the general activities of the Italian cardiac surgery centers. METHODS: A complete Italian cardiac surgery center directory has been assembled. A questionnaire on hospital characteristics, number of beds, number of yearly coronary artery bypass graft procedures, department computer systems and methods for surgery risk assessment has been sent to the person responsible for each cardiac surgery center. RESULTS: In Italy there are 86 non-pediatric cardiac surgery centers (65% public centers, 31% accountable private and 4% not yet accountable private). Sixty-eight centers answered the questionnaire. Each cardiac surgery center has, on the average, availability of 26 beds and carries out about 400 coronary artery bypass graft procedures per year; 81% of cardiac surgery centers follow their patients until day 30 after the intervention, but only 64% of them report the cause of death when the patient dies; 75% of cardiac surgery centers regularly use surgery risk assessment systems. CONCLUSIONS: These data indicate that a project on cardiac surgery outcome assessment can be conducted in Italy. This project will help defining standardized methodologies that will represent essential instruments for each cardiac surgery center and for regional offices in order to improve and optimize their activity.
