New clinical diagnosis criteria for the ESID Registry
The ESID Registry Working Party has initiated a thorough reform of the ESID Registry. This includes a quality control process that will be implemented during the transfer of data from the old to the new registry database.
About 70% of patients in the old database do not have a confirmed genetic diagnosis. However, only for some diseases clinical diagnostic criteria have been defined. Currently, the registration of many patients into disease categories does therefore not follow a standardized procedure.
Before transfer of patients to the new database, we have implemented a quality control process that includes validation of the diagnosis. For this, we have developed a set of clinical diagnostic criteria. It is obvious that the development of such criteria for clinical use should be the result of an international expert consensus process. This is a complicated task and will not be feasible in the time frame required to move the registry forward.
We have therefore decided to rather develop „working criteria“ for use in the registry that may not fulfill the standard required for clinical use, but will allow us to register patients in a more standardized fashion and realize this in a reasonable time frame. These criteria have been developed by the members of the Registry Steering Committee as well as a large team of external experts.
We are convinced that these criteria will help to improve data quality in the registry and will also be an important starting point for the development of diagnostic criteria for clinical use, which will be one of the future projects of the ESID clinical working party.
Stephan Ehl, March 2014
The criteria are available in the following pdf (latest version: August, 31, 2016):
The people who contributed to these criteria are:
Mario Abinun, Michael Albert, Sarah Beaussant Cohen, Matthew Buckland, Jacinta Bustamante, Andrew Cant, Jean-Laurent Casanova, Helen Chapel, Genevieve de Saint Basile, Esther de Vries, Inderjeet Dokal, Jean Donadieu, Anne Durandy, David Edgar, Stephan Ehl, Teresa Espanol, Amos Etzioni, Alain Fischer, Bobby Gaspar, Richard Gatti, Andrew Gennery, Sofia Grigoriadou, Bodo Grimbacher, Steven Holland, Gritta Janka, Maria Kanariou, Christoph Klein, Helen Lachmann, Desa Lilic, Nizar Mahlaoui, Ania Manson, Natalia Martinez, Nicolette Moes, Despina Moshous, Benedicte Neven, Hans Ochs, Capucine Picard, Isabella Quinti, Ellen Renner, Frederic Rieux-Laucat, Reinhard Seger, Markus Seidel, Annarosa Soresina, Dominique Stoppa-Lyonnet, Vojtech Thon, Adrian Thrasher, Frank van de Veerdonk, Joris van Montfrans, Anna Villa, Corry Waemes, Klaus Warnatz, Beata Wolska.