Perceptions and experiences of rare diseases among General Practitioners: an exploratory study

Background General Practitioners (GPs) play an important role in healthcare delivery for people living with a rare disease and their families. Managing long-term multisystem diseases that often have no cure and sub-optimal treatment options can be extremely challenging. Aim To gain an understanding of GP’s perception and experience of rare diseases. Design and Setting This is an exploratory study with GPs from Northern Ireland. Method An online survey was hosted within SmartSurvey, available for 6 weeks in early 2019, which queried: GPs career to date, interactions with rare disease patients, challenges faced, the exchange of information with patients, priorities for the future, support for such patients and finally training. Results Sixty-six GPs engaged with the survey with 15 completing the survey. Many frustrations were mentioned by GPs when caring for such patients including finding a diagnosis, lack of specialist services and lack of awareness. Seventy-nine percent of GPs responding did not feel adequately trained to care for patients with a rare disease, while 93% were interested in undertaking training to enable them to improve their care for rare disease patients. Conclusion More effective and convenient ‘rare disease’ focused training programs would help GPs manage patients with rare diseases. Enabling efficient, effective communication between GPs and individual medical specialists is of paramount importance to give GPs access to information on how to effectively manage patients living with a rare disease. Awareness should be raised for effective support mechanisms such as charities and support groups for rare disease patients. How this fits in Many GPs have reported feeling overwhelmed when caring for rare disease patients. Their lack of knowledge forces them to turn to the internet but finding reliable information is often difficult. This study acknowledges the difficult task GPs face when caring for this population and highlights the need for training development, improved communication, and better awareness.