Description

The common way to collect patient information is frequently chaotic and inconvenient (sometimes even unsafe), particularly when dealing with rare diseases. The need to simplify the diagnostic process and to overcome the difficulties of data storage and analysis, suggested in 2013 to implement the Registry of Multiple Osteochondromas (REM).

The REM relies on an IT Platform named Genotype-phenotype Data Integration platform -GeDI.This solution, realized by a collaboration among Medical Genetic Department and a local software-house (NSI - Nier IT Solution), is a General Data Protection Regulation (GDPR)-compliant, multi-client, web-accessible system and it has been designed according to current medical informatics standards (Orphanet code, ICD-10, Human Genome Variants Society, Findability Accessibility Interoperability Reusability Principles). GeDI is continuously implemented to improve management of persons with Multiple Osteochodromas and to help researchers in analysing collected information. REM is articulated in main sections:

• Personal data: it comprises general information, birth details and residence data
• Patient data: including the patients internal code, the hospital code and other details on patients
• Diagnosis: the diagnosis, the status (affected, suspect, etc.), age at diagnosis, comorbidities, allergies, etc.
• Genogram: a tool to design family transmission of the disease, flanked by info on diseases status of all included relatives
• Clinical events: records more than 20 signs and symptoms of Multiple Osteochondromas and 12 additional items to describe the disease
• Genetic Analysis and Alteration: including technique, sample information, duration of analysis, etc. In addition, this section comprises detailed information on detected pathological variants (gene, international reference, DNA change, Protein change, genomic position, etc.)
• Visits: it includes the typology of the visit (genetic, orthopaedic, rehabilitation, paediatric, etc.), the date of the visit, treatment, prescription, imaging, etc.
• Surgeries: this section contains information on the surgeries type, the age of the patients, the site/localization of the procedures, etc.
• Documents: this repository is allowed to store all type of documents (radiological reports, imaging, consents, clinical reports, etc.)
• Consents: this section comprises a complete overview of all collected consents, including the date of collection.
• Samples: it comprises the type of samples (DNA, tissue, whole peripheral blood, etc.)