Article.pdf

The European Journal of Human Genetics published an article on "Patient Journeys": improving care by patient involvement. Patients with rare diseases face many hurdles in their healthcare pathway, including diagnosis, treatment, and follow-up, due to limited expertise and scarce knowledge. The article suggests that patient experience and satisfaction are crucial in assessing healthcare quality and that patient involvement in healthcare service design can improve relevance and quality. European Reference Networks (ERN) have been implemented to connect experts and facilitate knowledge sharing. ERN GENTURIS has developed "Patient Journeys" to share patient expertise and experience, identifying common and specific needs for rare inherited syndromes. The "Patient Journey" is a visual approach that connects professional guidelines with patient needs, divided into stages with clinical presentation, challenges, and goals. The article concludes that "Patient Journeys" can improve care for patients with genetic tumour risk syndromes by encouraging experts to look into national guidelines and identifying the need for evidence-based European guidelines.