FAMILY PHYSICIAN'S TOOLS: CLINICAL GENETICS AND RARE DISEASE WEBSITES

https://doi.org/10.56274/rcs.2023.2.1.16

Abstract

Web resources are becoming increasingly important in the management of genetic and rare diseases in primary health care. Despite being called "rare", they have an important role to play, with an estimated 10-15 patients per medical quota.

The main objective was to present the key internet consultation tools on clinical genetics and rare diseases for Family Doctors. A bibliographic review of international web resources considered useful in Primary Care was carried out, classifying them according to their characteristics and distinctive features: Orphanet and GeneReviews as the first search option, DICE-APER protocol for the registration of rare diseases, OMIM and GTR help in research work, and finally, Medline Plus, Lagenetica.info, FEDER and NORD useful for dissemination and support to patients and families.

There is a deficit in research and training, hindering the diagnosis and management of patients with rare diseases. Therefore, doctos need easily accessible consultation tools.