Rare diseases: new approaches to diagnosis and care

Elizabeth (Emma) Palmer, Nicole Millis, Michelle Anne Farrar, Yvonne Zurynski, Gareth Baynam, Adam Jaffe

Research output: Contribution to journalArticlepeer-review

Abstract

Two million people in Australia live with a rare disease and face common challenges of diagnostic delay, lack of clinical knowledge and treatment and fragmented care, as well as significant psychosocial impacts. Caring for patients with rare diseases and their families requires innovative collaborative approaches across institutional, geographical and system boundaries. New resources and toolkits that prioritise improved diagnosis, care and support are available to help GPs provide excellence in rare disease care for patients and their families.

Original languageEnglish
Pages (from-to)69-75
Number of pages6
JournalMedicine Today
Volume24
Issue number1-2
Publication statusPublished - Feb 2023

Keywords

  • Rare diseases
  • diagnosis
  • Genomics
  • health policy

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