Perceptions and Experiences of Rare Diseases among General Practitioners: An Exploratory Study in NI

Author(s): Julie McMullan, Ashleen L Crowe, Taylor McClenaghan, Helen McAneney, Amy Jayne McKnight

Objective: To gain an understanding of GP’s perception and experience of rare diseases.

Design: This is an exploratory study with GPs from Northern Ireland.

Setting: An online survey was hosted within Smart Survey, available for 6 weeks in early 2019, which queried: GPs career to date, interaction with rare disease patients, challenges faced, the exchange of information with patients, priorities for the future, support for such patients and finally training. The survey contained open-ended and closed-ended questions and both qualitative (narrative) and quantitative analyses were carried out.

Participants: Sixty-six GPs engaged with the survey with 15 completing the survey.

Results: Many frustrations were mentioned by GPs when caring for such patients including finding a diagnosis, lack of specialist services and lack of awareness of rare diseases. 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.

Conclusions: 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.