Improving communication and identifying priorities for modernising rare disease services with healthcare practitioners, patients, families and advocacy groups

Abstract

Background

A rare disease is defined as occurring in less than 1 in 2,000 people. Cumulatively, rare diseases are common and represent a significant public health concern, with one in 17 people in the United Kingdom being affected by a rare condition. The problems encountered because of the low incidence of individual rare diseases include a lack of accurate diagnosis, lack of clarity about which specialists they should be referred to post-diagnosis, lack of coordinated approach, and medical professionals who have not heard of the disease. This makes it difficult to optimise treatment strategies that effectively manage the rare disease, or even to know which options are available. Thus improving communication mechanisms both within and around the healthcare system is of vital importance to individuals living and working with rare diseases in Northern Ireland.

Aims

The aim was that through this research project priorities for change will be found to improve communication and modernise services for those affected by rare disease in Northern Ireland.
A positivist methodological approach was taken, where the real world challenges of those who have a rare disease were sought. Alongside the positivist methodology this was participatory research with and for the rare disease community.

Methods

To obtain the voices of those who have a rare disease, carers, and healthcare professionals, a number of surveys, workshops, and interviews have been conducted and findings placed within the international context via review of the literature. The surveys were hosted online via SmartSurvey and included both open and closed questions. Qualitative findings were thematically analysed.
A literature review on rare disease and communication was conducted at the very beginning of the project to familiarise the researcher with the research topic and to provide international context. An online survey, conducted in 2017 prior to the beginning of the PhD was also analysed at the beginning of the PhD. Further discussions and workshops were held in 2018 at an Education and Registry event. Later in 2018, to establish the elements needed within an online hub, data was collected at two in person events, and online, using a survey (April 2018). This survey ranked respondent’s preferences of items to be included on the hub. In late 2018 I created a GP infographic to help alert and direct GP’s to resources which could both help them and help their patients when identifying rare disease, managing the symptoms, and offering treatment. Collaborative groups represent a significant voice for those affected by rare disease as they often speak on their behalf. To establish the needs of these groups, semi-structured interviews were conducted by myself and a colleague with rare disease advocacy group representatives in 2018/2019. These interviews were transcribed in NVivo and thematically analysed. Then in 2019, a workshop on Complementary and Alternative Medicines (CAMS) and rare disease was conducted, which I transcribed and thematically analysed. In 2020 I carried out a scoping review to find literature relating to carers and communication to accompany data from a workshop and online survey (January 2020). Information from the survey and workshop have been analysed both quantitatively and thematically. In 2020 surveys were also carried out in response to a global pandemic, which I helped to design and then analysed. I then also conducted interviews with healthcare professionals in between November of 2020 and March 2021 to evaluate the rollout of whole genome sequencing in Northern Ireland via the 100K genome project.

Results

Literature review – rare disease and communication:
From this literature review were 30 international papers used for the synthesis of results. Four themes were identified: medical care, sources of information, rare disease community, and public awareness. When Northern Ireland was included in the search terms no results were found, highlighting the importance that the voice of those affected by rare disease in Northern Ireland is heard.
Voice of those affected by rare disease:
The information and communication survey of 2017 aided the identification of the first set of priorities for change, according to the people who themselves have a rare disease. There were 240 survey respondents. The four overarching categories for change were: medical care; rare disease community; sources of information; and public awareness. Results from the qualitative questions in the surveys designed in response to the global pandemic were themes of information, long term uncertainty, the mental impact of lockdown, the lack of practical support, increased carer responsibility, missed social interactions, the changes in healthcare and the impact that is having on wellbeing, and the experience of dealing with healthcare professionals. There were 424 respondents, with 293 residing in United Kingdom, of those 57 were in Northern Ireland. In the Complementary and Alternative medicines (CAMs) survey and workshop patients with rare diseases frequently report CAMs as effective in the management of their condition, in particular acupuncture, dietary supplements, herbal medicines, homeopathy, hydrotherapy/swimming, kinesiology, mindfulness, pilates, reflexology, tai chi, and yoga. Workshop participants raised the lack of information available both about CAMs and rare disease. Both the survey and workshop identified inequality of access with participants reporting CAMs to be expensive and expressing a desire for more therapies to be available within the UK National Healthcare Service. There were 29 respondents to the survey, and nine participants in the workshop.
Voice of rare disease via technology:
In the surveys asking about preferences for items to include on an online hub, the top 6 items which were listed as what people desired to see on an online hub were: disease specific information for patients; disease specific information for medical professionals; access to referral resources e.g. physio or genetics; information on access to treatment (current treatments and clinical trials); disease specific information for families and carers; a diary of events, conferences, workshops and experts invited to NI.
Voice of those caring for someone affected by rare disease:
The carers scoping review resulted in 15 relevant papers. From these 16 themes were derived, within 4 categories: health professionals; health services; information; (social) support.There were many important results which came from the carers survey, of which there were 57 respondents. When these carers were asked “What are the top (up to three) priorities that would help you most in caring for someone with a rare disease?” there were 12 themes which arose from the answers: financial; medication; resources; support; respite; healthcare service; awareness; helpline; child specific support; information; practical issues; equality.
Voice of advocacy groups of those affected by rare disease:
A thematic analysis of the interview data with nine advocacy/charity group representatives produced 6 themes: Excellent communication is key; Online presence/ Social media; Carers; Training health professionals; Involvement with research; ‘Not adequate’.In the survey conducted among rare disease advocacy/charity groups amidst the COVID-19 pandemic two of the six groups who responded saw the number of followers on their websites and social media feeds more than double. Two groups also saw the number of direct requests for support/information, via their website or social media, more than double. When asked about the operation of their helplines five of the groups stated that they have a helpline for support and advice. Two of these said the number of calls to their helpline has increased significantly during the pandemic, and that there was a mix of calls from those who have a rare disease, and their family members, also looking for advice and support.
Voice of healthcare professionals working with those affected by rare disease:
The GP infographic was designed to help signpost GPs to resources to assist them in identifying or connecting the dots about a rare disease, or to assist them in directing their patients to helpful websites or online organisations. This was carried out as a response to many comments from patients and carers about the challenges experienced when interacting with doctors.
The results from the 19 interviews of the healthcare professionals involved in the 100K genome project showed that, through the process of coding analysis, four central themes were identified from the 19 interviews conducted: healthcare professionals had a positive experience of whole genome sequencing; facilitating whole genome sequencing was a significant workload burden; Interviewees found that participants expressed some concerns about additional findings and time to results; there is a need for additional training.

Conclusion

It has been made clear through this research project that there are many improvements required in Northern Ireland for those who have a rare disease. The improving of communication can be facilitated by results such as increased public awareness, a rare disease registry, and an online hub – results from various elements of this project. The priorities for modernising of services cross over with improved communication and include the results of a rare disease registry, an online hub, but also diagnosis using whole genome sequencing, and collaboration between healthcare professionals and availability of healthcare records.
The priorities for these improvements have been stated and have or will affect policy here in Northern Ireland. One example of this is that the Northern Ireland action plan has now been published and has been informed by this project resulting in priority actions of an online hub, a genomics partnership, and a rare disease registry for rare disease in Northern Ireland.

Date of Award	Dec 2023
Original language	English
Awarding Institution	Queen's University Belfast
Sponsors	Northern Ireland Department for the Economy
Supervisor	Amy Jayne McKnight (Supervisor) & Gavin Duffy (Supervisor)