Abstract
Europe is working actively to increase healthcare and cooperation, providing directives on cross-border medicine and stimulating the creation of European Reference Network (ERNs) for a coordinated sharing of expertise and resources. Both these topics need a pooling of information, in particular in diagnosis and care of rare diseases, a scenario that requires very specialized knowledge for comprehension of pathology and patient management. To increase this knowledge, we have individuated a very efficient clinical tool, the disease registry, and we have designed and created the genotype-phenotype correlation analysis and research database (GePhCARD) platform. This pathology-oriented IT instrument can provide an organized pooling of patient information; a structured description of clinical signs, genetic results, and familiar data; and the opportunity to perform statistics. Thanks to all these peculiarities, the disease registry brings to healthcare professionals a complete overview of disease, an individuation of a sub-cohort of patients with specific manifestations (that are responsive, or not, to a determined treatment), an identification of disease-causative pathways, etc. As a result, a disease registry can help doctors in providing high-quality and cost-effective healthcare.
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Notes
- 1.
Regulation (EEC) No 1408/71 of the Council of 14 June 1971 on the application of social security schemes to employed persons and their families moving within the community. Official Journal of the European Communities, 1971; L149/2.
- 2.
Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the application of patients’ rights in cross-border healthcare. Official Journal of the European Union, 2011; L88: 45–46.
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Sangiorgi, L., Mordenti, M. (2017). Disease Registry: A Tool for European Cross-Border Medicine. In: Rinaldi, G. (eds) New Perspectives in Medical Records. TELe-Health. Springer, Cham. https://doi.org/10.1007/978-3-319-28661-7_12
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