National rare disease registry may improve care for patients

AI Summary

A national rare disease registry in Sweden aims to improve patient care by addressing diagnostic challenges for over 7,000 rare diseases, many genetic in origin. The registry supports harmonized coding and better data sharing for enhanced treatment and diagnosis.

In Sweden, more than 500,000 individuals live with a rare condition. Globally, approximately 7,000 distinct rare diseases have been identified, the majority of which have a genetic etiology. Expertise regarding these diagnoses is often limited among health care professionals. Furthermore, the lack of harmonized diagnostic coding in health information systems can result in delayed diagnosis, fragmented care and suboptimal treatment.