As one of the objectives of the Belgian Plan for Rare Diseases and aimed at quality management in the officially designated Belgian Centers for Medical Genetics (CMGs), the Belgian Genetic Testing Database (BGTD) is intended to be a single entry point for the centralized registration of genetic tests, providing relevant, uniform, detailed, and quality-related information, while ensuring traceability. Its implementation should enable healthcare providers to better guide patients to appropriate genetic testing, optimize data exchange with external resources such as Orphanet, promote uniform reporting to government healthcare organizations, and increase the visibility of Belgian clinical genetics expertise.
The BGTD is a web application based on open source software (https://gentest.healthdata.be/) and currently comprises 854 molecular genetic tests linked to general and supplementary information.
The data is validated at least annually by the CMGs and continuously by Sciensano, which hosts and maintains the database.
Keywords
Rare disease, Belgian Plan for Rare Diseases, database, genetic test
What is already known about the topic?
In Belgium, around 500,000 patients are affected by a rare disease and face the same difficulties: an accurate diagnosis, access to specialized healthcare teams and, finally, an effective treatment, if available. To overcome these shortcomings, Belgium is gradually setting up structures and networks to ensure better care for all these patients, regardless of their disorder.
What does this article bring up for us?
This article describes the various tables and functionalities offered by the Belgian Genetic Testing Database in order to increase the visibility of expertise in clinical genetics and to assist health professionals in the appropriate management of rare diseases.