In recognition of World Haemophilia Day 2020, Laurence Woollard and Dr Rich Gorman discuss the ever-increasing patient-provider knowledge gap in haemophilia, the opportunities for a renewed focus on patient empowerment through education and how the wider rare disease community may rewrite the narrative of shared decision-making in an era of transformative care.
The year 1989 saw the likes of ground-breaking album releases by both Madonna and Phil Collins, the debut of Nintendo’s iconic hand-held Game Boy as well as Michael Keaton starring as the caped crusader in the first major studio Batman release! Most significantly, it was the inaugural World Haemophilia Day. How apt considering the two authors were also born then… what a momentous year all round!
Each of these cultural phenomena (except us, obviously!) have evolved over the ages in response to technological advancements and consumer demands. The same could also be said for innovation in haemophilia, which has taken tremendous leaps forward; the devastating tragedies of people receiving virally contaminated blood products during the ‘70s and ‘80s was a catalyst that fuelled research on the development of safer treatments (brought to market in our lifetime). By the close of the “Tenties”, the community has witnessed a new era of products with extended half-lives, together with the introduction of therapeutic agents based on mechanisms that go beyond the conventional replacement of the deficient clotting factor. This progress looks set to continue throughout the 2020s, signalled by the likely ‘blockbuster’ launch of the very first gene therapy for haemophilia, often hailed as the ‘holy-grail’ of treatment for our condition.
Whilst these newer treatment strategies are surely something to be celebrated – potentially offering us and our peers greater protection from bleeding combined with a reduction in treatment burden – paradoxically, the speed of innovation has opened up new dilemmas and uncertainties for people living with haemophilia and their healthcare team, in the task of aligning product and patient characteristics across a diverse population. Haemophilia has similarities to other rapidly changing, commercially influenced rare disease environments such as multiple sclerosis, where the increasingly varied and complex treatment portfolio can make it difficult to reach a conclusion regarding relative efficacy or risk profile comparisons.
Taking centre stage amidst this uncertainty is the dynamic balance of decision-making power between us and our clinicians. In haemophilia care, this has been shaped and influenced by the legacy of the aforementioned contaminated blood crisis. Consequently, it prompted patients and their specialists to reconsider the roles they played in the clinical relationship and begin to embrace more participative decision-making processes. Today, in such preference-sensitive medical conditions, this culture of shared decision-making will have even greater relevance once patients have closed the knowledge gap and are more aware of their treatment needs.
A necessary prerequisite to bridging the knowledge gap relies on empowering individuals and their caregivers to foster a greater sense of involvement in, and facilitation of, shared decision-making, primarily through a core dimension of health literacy. In an ideal scenario, patients should not be put in the position of having to pick one treatment choice over another without the necessary evidence-based education; rather, be enabled to feel comfortable with their decisions and allowed to actively participate in their own care to optimise overall health and wellbeing.
People may have a preference for passivity because they believe - and perhaps, are encultured to believe - that the best choice relies solely on the expertise of the clinician (which option is medically reasonable?) rather than understanding the importance of their own preferences for outcomes of options (which outcomes matter most to me?).
In some cases, studies have even described early real-world adopters of the latest longer-acting treatment in haemophilia as demonstrating ‘a clear lack of knowledge’ of the fundamental components to self-managing on these products effectively, including their factor level, timing of infusions and treatment use for bleeding episodes. It brings into question how well-equipped such individuals are to care and advocate for themselves, along with the degree of input they have when being offered or instructed to switch therapy; with issues of cost-comparison and effectiveness at play within a resource-restricted healthcare setting.[12,13,14] By the same token, it should be noted that people living with haemophilia have expressed a wish to receive facts about novel treatments, including the risks and benefits, from the national patient group as well as their multidisciplinary care team. Interestingly enough, there are currently limited resources of high‐quality, independent information on gene therapies.
Within the haemophilia clinical setting, new models of patient-centred practice are being piloted, with varying degrees of success, to provide education, improve engagement and encourage open patient-clinician dialogue. For instance, in British Colombia, Canada, the patient is invited into a meeting with all members of the healthcare team (e.g. haematologist, nursing specialist and physiotherapist) to promote freedom of participation in treatment decisions, enhanced by the use of appropriate visual tools and decision aids. One of us can relate to the benefits of this style of approach at a London centre, whereby a more relaxed, regular informal setting is offered in addition to the normal biannual, structured and time-pressured appointment in outpatients. A scenario might be where the consultant observes the physiotherapist undertaking an ultrasound scan on the patient’s damaged joints, thus sparking a three-way conversation to mitigate future health concerns in agreement together.
Even so, what transpires between those four walls is not always translatable in the face of the unpredictable demands and influences of everyday life. Moreover, particularly as millennials, we have grown up to believe that our chronic condition should not define us as a mechanism to normalise social perceptions with our non-affected peers. More broadly, this approach has possibly discouraged and suppressed any inquisitiveness about health-related needs and clouded patients’ judgement of the necessity to learn more, especially in these change-filled times.
Undoubtedly, the mass digitalisation of society and the expanding nature of data-driven healthcare and e-Health tools have contributed to increasing rare disease patient community connections and involvement in advancing scientific and social research. Yet, in haemophilia, we would argue that this has also altered and diminished forms of learning through the absence of: offline peer support, self-expression and self-validation from meeting others like ourselves in person and building a spirited solidarity – standing side-by-side, not just metaphorically but on the ground – unified by a collective purpose to drive up standards of care together.
A cohesive and empowered patient network that is engaged and on trend with the emerging science and evolving treatment landscape is an admirable goal. It will necessitate both cultural transformation and structural change within the clinic itself, but also wider, at a grassroots-led and community-based level. This must occur without prejudice of socio-economic status and be underpinned by access to inclusive and equitable first-rate education. Importantly, the education we would value the most here is one that treats the learner as a co-creator of knowledge, with education as a practice of freedom. For the patient, being asked, “Do you have any questions?” in respect of their care is meaningless (and potentially anxiety inducing) if they have not been exposed to appropriate opportunities to cultivate self-confidence and help develop the skills required to formulate and make an informed response. Without investment in health literacy and effective delivery thereof, efforts to enable patients to participate in shared decision-making risk becoming a tokenistic gesture, reifying age-old power differentials with patients positioned as passive recipients of their care.
The current pandemic of COVID-19 is diverting attention and necessary resources in healthcare delivery and patient support services to respond to this unprecedented crisis – and rightly so. The heightened public awareness of the necessity to keep well, both physically and mentally, may drive an increase in rare disease patient-provider interaction, especially with a possible spike in emotion-laden contact from worried individuals and their caregivers regarding treatment supplies, drug interactions and deferred clinic visits, amongst others. The impact of COVID-19 on healthcare systems will be felt for a long time to come. How this might affect patient engagement and encourage improvements in health literacy remains to be seen. Though, with cautious optimism, we might ask whether the crisis may forge new relationships between patients and treatment providers, building momentum towards more equitable forms of shared decision-making.
Besides, we want to look back at this decade and not just marvel at the transformational drug discoveries and therapies but similarly, be witness to a culture shift whereby a mobilised, educated patient community are interacting synergistically with their healthcare teams for the benefit of all.
Published media article headers in cover image have been taken and adapted for editorial use from the following online sources (accessed 11th April 2020, clockwise from top left):
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Rare Revolution Editor