Genetic encoding of the International Classification of Diseases and the burden of Genetic Disorders [Poster walk]

Background\r\nGenetic diseases are an important cause of infant mortality and\r\nmorbidity and have a high impact on social-health system.\r\nAbout 50-70% of pediatric patients suffer from genetic\r\ndisorders or diseases with a significant genetic component.\r\nAt the time, the key role of genetics in understanding the\r\nbiological basis of the disease has been well defined but its real\r\nimpact remains to be defined. The aim of this study is to assess\r\nthe impact of genetic disorders through the ‘‘genetic encoding’’\r\nof the International Classification of Diseases-9th Revision\r\n(ICD9), currently used in Italy, in order to understand the\r\nimplications for the healthcare system.\r\nMethods\r\nThis study included the following activities: ‘‘Genetic’’\r\nclassification of the diseases according to scientific literature;\r\n‘‘Genetic encoding’’ of disorders present in ICD9 using as\r\nresource the Online Mendelian Inheritance in Man (OMIM);\r\nSelection of ICD9 codes relevant for the study. Results\r\nThe analysis of literature resulted in a ‘‘genetic’’ classification\r\nof 8 classes of diseases: Chromosomal anomalies, Monogenic\r\ndisorders, Congenital Malformations, Mitochondrial diseases,\r\nGenomics diseases, Somatic cell genetic diseases, Multifactorial\r\nDisorders, Probably genetic disorders. According to the\r\n‘‘genetic encoding’’ of the ICD9 about 29% of ICD-codes is\r\n‘‘genetic’’. The most represented classes are: Multifactorial\r\nDisorders (37,9%), Somatic cell genetic diseases (30,6%),\r\nCongenital Malformations (14%) and Monogenic disorders\r\n(10,6%).\r\nConclusions\r\nGenetic diseases are quite common and costs for\r\nsociety and for the health system are very high. The ICD9\r\nhas some limitations: for example it does not include all\r\ngenetic diseases currently known with consequent\r\npossible coding errors by clinicians and incorrect correlation\r\nwith Diagnosis Related Groups. These results are of major\r\ninterest for public health not only for assessing the burden of\r\ngenetic disorders but also for priority setting in resources\r\nallocation.