Enhancing the patient–HCP relationship in rare diseases
February 21, 2024 | HCP, patient engagement, patient perspective, patient–HCP communication, rare diseases
By Maggie Lai
Effective communication and collaboration between patients and healthcare professionals (HCPs) is central to achieving quality healthcare and positive health outcomes, especially in rare diseases. In this blog, we look at the many unique challenges faced by people with rare diseases, their caregivers and HCPs. We consider the importance of information and education for both parties in facilitating open and honest dialogue. By reducing communication barriers, patients and HCPs can create a partnership based on shared perceptions regarding expectations, treatment goals and long-term outcomes, leading to greater satisfaction for all involved.
The challenge of rare diseases
It is currently estimated that there are more than 7000 rare diseases. New conditions are being identified regularly as research continues, along with the rapid advancements in genomic technologies. While these diseases may be rare individually, the total number of people living with a rare disease is not. Around 1 in 17 people are affected by a rare disease at some point in their lives, equivalent to 3.5 million people in the UK, 30 million in Europe and 400 million globally.1,2 The impact is considerably greater when considering the wider network of caregivers, families and friends who are also affected by the disease.
Despite greater awareness and scientific progress, rare diseases still pose considerable challenges, not only for the patients but also for the clinicians who care for them. Like many other chronic diseases, rare diseases are often serious, multisystemic and progressive. They typically display complex symptoms and are a significant cause of ongoing health and psychosocial challenges. Most rare diseases urgently require advanced research to enhance knowledge and generate effective therapies to help improve the lives of affected individuals.
The patient perspective
How would you feel if you had the manifestations of a disease, consulted with multiple doctors but struggled to find anyone who recognized the signs and symptoms of the condition? Unfortunately, this is the experience many patients with a rare disease face.
A lack of disease awareness means that they can remain undiagnosed for an average of 4–5 years3 because HCPs may not always recognize their symptoms. Delays in diagnosis can lead to inappropriate disease management and disease progression, adding further emotional distress to patients and their families.
The experience of finally being diagnosed can bring a sense of relief to those involved. Unfortunately, this can often be short-lived because the reality of living with a rare disease comes with its own challenges. Firstly, patients and families must come to terms with and learn about a condition they may not have heard of. Some patients may be faced with a condition that has a negative prognosis, with few or no disease-modifying treatment options or limited access to the multidisciplinary level of care they need.
There are also some patients who never receive a diagnosis and require specialist management plans, as well as ongoing support. Despite these harsh realities, practical actions can be taken. Wherever possible, the information and educational needs of patients and their caregivers should be met with accurate, digestible resources they can relate to. Knowledge of the disease, together with an understanding of the impact it will have on their lives, will help empower patients and caregivers to make informed decisions about their treatment and care.
HCP awareness
The challenges for HCPs who care for patients with rare diseases mirror their patients’ experiences in terms of the frustrations around diagnosis. Typically, knowledge and expertise in managing specific rare diseases is concentrated in relatively few dispersed specialist centres. Understandably, experience of a disease is proportional to the frequency with which the HCP encounters and manages patients with that disease. In many cases, HCPs may only see and manage very few or no such patients throughout their career.
Difficulties with the diagnosis and management of rare diseases largely stem from a lack of basic knowledge, lack of evidence-based information and/or difficulty accessing relevant information. While it is impossible for any individual HCP to be familiar with each rare disease, they should have sufficient knowledge to suspect one or, as a minimum, refer the patient to a specialist better equipped to make the right diagnosis. In addition, they should understand their role and responsibility toward that patient across the diagnostic, treatment and management pathways. This means that HCPs require education that is appropriate, impactful and tailored to their needs.
Effective patient–HCP communication
Armed with greater knowledge, patients, caregivers and HCPs are more likely to communicate openly and effectively with one another and, in the process, develop good relationships based on mutual trust. Good communication is critical from the outset, and by understanding their patients’ particular needs and preferences, HCPs will likely learn valuable information to help adapt the care and support for them.
For example, as primary educators, HCPs should be able to meet the educational needs of patients and their families. They should gauge what level of information each patient is comfortable with, tailor it accordingly and deliver it with respect, honesty and empathy. They should be sensitive to the fact that some patients may want to know more than others about their future prognosis, the cause and course of their disease, or other peoples’ experiences.
Some common challenges patients face when seeking information include not knowing which sources are trustworthy, as well as difficulty in finding what they are looking for. As part of a structured approach to care, HCPs need to be able to provide resources that are up to date, accurate, reliable and best suited to a particular patient’s needs at that time. To preserve and strengthen the relationship with their patients, HCPs themselves must stay informed. They should keep abreast of available data, evolving guidance and best practices so that they can communicate the options available and the rationale for their decisions as patients move along their disease journey.
Well-informed and empowered patients who have greater knowledge of their disease and available options are more likely to be confident to talk to their HCP and be involved in shared decision making. They will be better able to communicate their preferences, values and expectations more clearly and make informed decisions in accordance with their own needs. This is important in the context of rare diseases, where there may be limited or no treatment options available and decisions weigh more heavily on patients’ individual needs and preferences.
How can we help?
Rare diseases pose significant challenges for affected patients and their families, as well as the HCPs caring for them. A good relationship between patients and HCPs is critical for successful patient outcomes, with communication forming an integral part in building a strong alliance. Although HCPs are responsible for encouraging communication and education with patients, this can only be effective when both parties engage in two-way, open, honest dialogue that enables meaningful information exchange.
Our support solutions for both HCPs and patients can facilitate the development of an enduring partnership, make consultations more efficient and improving the patient experience. We have expertise in developing materials, such as enhanced publication content, to support better access and understanding of disease/treatments by patients. We can also help clients with activities and materials to assist in conversations between HCPs and patients and enrich interactions. Wherever possible, we integrate the patient voice in our work, for example, in the design of studies, as co-authors in publications and in other educational resources. Our goal is to help strengthen the relationship between HCPs and patients to ensure a better understanding of the disease and ultimately improve patient outcomes.
To hear more about our patient-centred communications and examples of our support, please contact Ellie Thomas at ellie.thomas@comradis.biz. For more insights, visit the AMICULUM News and insights page.
References
- Genetic Alliance UK. What is a rare disease? Available at https://www.raredisease.org.uk/what-is-a-rare-disease/. Accessed February 2024
- Global Genes. Rare disease facts. Available at https://globalgenes.org/rare-disease-facts/. Accessed February 2024
- Marwaha S et al. Genome Med 2022;14:23
This content was provided by Amiculum
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