In order to maintain quality, keep up-to-date with advances in the field, and provide the best possible service for families, it is essential to be able to manage the specialized tests for rare familial diseases in a same center. The advantages of having a single reference laboratory can be summarized in the following points:
Laboratories
1. ACCOMPANYING IN THE TEST SELECTION PROCESS.
The activity of the laboratory begins with the contact of doctors interested in the services. In this first contact the reference laboratory can discuss the case with the doctor to ensure that the correct test is requested.
La prova genètica no és una eina que substitueix la valoració clínica, sinó que la complementa. Genetic testing is not a tool that replaces clinical assessment, but complements it. Therefore, genetics should always be done within the appropriate clinical context.
3. THE DEVELOPMENT OF A COMPLETE DATABASE OF GENETIC VARIANTS.
Many of the variants currently discovered are new, thus, not previously described, and are therefore not present in international databases. Being able to channel all the tests in a single center allows to have the necessary volume of cases to develop a powerful database, essential in assessing the pathogenicity of a genetic variant.
2. THE GENETIC ASSESSMENT OF THE WHOLE FAMILY TO DETERMINE PATHOGENICITY OF THE VARIANT
The participation of different laboratories in the genetic assessment of the same family involves difficulties in ensuring that all relatives have been evaluated as well as in assessing the results of family segregation studies of the variant that allow to determine if it is the cause of the disease.
4. MAINTAIN EXCELLENCE
A reference center specializing in an area must maintain expertise. Therefore, the center needs to keep abreast of new advances, new genes associated with sudden death, and new analysis techniques. This is only possible if the reference center is combined with the work of a multidisciplinary group dedicated to research in the same field.
