1. SEMFYC: Spanish Society of Family and Community Medicine. Miguel García Ribes, José Vicente Sorlí Guerola. SEMFyC’s working group on Clinical Genetics and Rare Diseases

2. Why Primary Health Care? It covers 100% of the population. General Practitioners (GP) working at Primary Health Care (PHC) are the first and main entrance to the National Health Service for RD patients. It was estimated that each GP working at the PHC could be responsible for 20 patients suffering from different RDs. PHC is a well developed modern system that provides Internet access to all General Practitioners where Medical records of their patients are stored.

3. General Practitioners and RD GPs are the best resource to collect data for the National Registry of RD patients. Internet tools must unify medical records with regional and national registries of RD. RDs should be considered and managed as notifiable diseases. GPs are not very sensitive to RD yet.

4. SEMFYC The largest scientific society in Spain: 20000 members, most of them GPs. Participates as partner in IRDIRC. Official collaborator of the IIER for the last 2 years. Main objetives: To design training tools on RDs for GPs To improve the quality of life of patients with RD.

5. Clinical Genetics and Rare Diseases working group Founded in 2006 Members: 30 nationwide GPs Objetives: Sensitize GPs about RD Improve knowledge of clinical genetics among GPs

6. www.gdtraras.es

7. THE DICE-APER PROTOCOL Allows GPs to identify every RD. Offers doctors and patients health care and social resources. Promotes coordinated work among GPs and other specialists such as genetic counselors. Encourages patients to participate in the National Registry of RD and to donate a blood sample for the IIER-Biobank.

8. THE DICE-APER HOMEPAGE

9. IIER-SEMFyC JOINT PROJECT To bind DICE-APER with: Medical records RD National Registry Training GPs in RDs Workshops E-learning Publications Lectures for GPs SEMFyC Activities.

10. Thank you for your attention