Improving communication for individuals with a rare condition

Introduction: One in 17 individuals in the UK are affected by a rare condition, with ~80% having a genetic cause. Major local problems include a lack of accurate diagnosis, no clarity about specialist care, a lack of coordinated approach, medical professionals who have not heard of the disease, and challenges sourcing relevant therapies. Alongside our newly implemented whole genome sequencing programme to improve rare disease diagnosis, improving complementary communication mechanisms in the health and social care system is of vital importance. Materials and Methods: A review of existing information and communication resources for individuals living and working with rare diseases was held in Northern Ireland between January 2017 and February 2018. Strategies included three surveys, five public consultation meetings, and individual interviews with a range of stakeholders. Using the DELPHI model, priorities for improving communication were identified and consensus achieved. Results: More than 500 individuals engaged with the process and contributed to identifying >60 priority needs, alongside evaluating strengths/barriers to implementing improved communication strategies. Identified priorities were categorised under the following four headings: (i) sources of information, (ii) medical care, (iii) rare disease community, and (iv) public awareness. Conclusions: Developing an effective information hub for rare diseases in Northern Ireland was the top-ranked strategic priority from all individual and collective information procurement strategies. ALC is supported by a PhD studentship from the Department for the Economy. This work was conducted in collaboration with the Northern Ireland Department of Health, the Public Health Agency, and the Northern Ireland Rare Disease Partnership.