PW03-030 – Collecting patients data to inform genetic studies

Our centre performed nearly 6000 genetic tests in 2011, in 11 genes, with a year on year increase of about 20% per year over 5 years. In half of the patients genetic testing was used as pre-screening before referral to clinic. A good patient history is essential for proper diagnosis and treatment of HRFS (hereditary recurrent fever syndromes), and genetic testing is a more useful adjunct when guided by relevant symptoms. In order to guide the testing strategy and provide more helpful interpretation of results, we asked the referring physicians to provide detailed information on the patient’s family history, symptoms, etc. The approach to collecting this information has evolved over several years, and we describe our experience.