General Practice Care for Patients with Rare Diseases in Belgium. A Cross-Sectional Survey.

There are almost no studies about rare diseases in general practice. This study examined care characteristics of active rare disease patients in the Belgian Network of Sentinel General Practices (SGP) and the importance of rare diseases in general practice by its caseload, general practitioner (GP)⁻patient encounter frequency and nationwide prevalence. The SGP reported data about: (i) the number of active rare disease patients in 2015; and (ii) characteristics of one to three most recently seen patients. Rare diseases were matched against Orphanet (www.orpha.net). GP encounter frequency and patients' age were compared to the total general practice population. Details from 121 active patients (median age: 44, interquartile range (IQR) 24⁻60) showed that for 36.9% the GP had been the first caregiver for the rare disease and for 35.8% the GP established a diagnostic referral. GPs rated their knowledge about their patients' disease as moderate and used Orphanet for 14.9% of patients. Any active rare disease patients (median: 1, IQR 0⁻2) were reported by 66 of 111 SGP. Compared to the total general practice population, the mean GP encounter frequency was higher (7.3; 95% confidence intervals (CI) 6.1⁻8.5 versus 5.4; 95% CI 5.4⁻5.4). The prevalence of rare diseases in the Belgian general practice population was estimated at 12.0 (95% CI 10.3⁻13.9) per 10,000. This study acknowledges the important role of GPs in rare disease care. Knowledge and use of Orphanet by GPs could be improved.

National registries of rare diseases in Europe: an overview of the current situation and experiences.

The European Union (EU) policy for healthcare requires the establishment of a system of European Reference Networks, union-wide information databases, and registries for rare diseases (RDs) based on shared criteria. In pursuing its goals, the 'Building Consensus and Synergies for the EU Registration of RD Patients in Europe' (EPIRARE) project convened a meeting with experts of the competent health authorities to discuss the role of national institutional RD patient registries in supporting EU patient registration and the room for international cooperation. With this aim, this paper comparatively analyses the current situation of national institutional RD registries in the EU.

A standardized framework for the validation and verification of clinical molecular genetic tests.

The validation and verification of laboratory methods and procedures before their use in clinical testing is essential for providing a safe and useful service to clinicians and patients. This paper outlines the principles of validation and verification in the context of clinical human molecular genetic testing. We describe implementation processes, types of tests and their key validation components, and suggest some relevant statistical approaches that can be used by individual laboratories to ensure that tests are conducted to defined standards.