Edition of 29 September 2023

In January 2021, a panel meeting was health with experts from the EU, UK, and USA to discuss strategies for how HTA procedures can be optimised to promote access to medicines for rare diseases, particularly transmissible ones. The results from this meeting have now been published in Journal of Market Access & Health Policy, and propose a framework to make such procedures more consistent, and to better incorporate the value of preventive interventions into assessments.

Health technology assessment (HTA) is a process undertaken by health regulators to assess the value of a given treatment or intervention, and is used to inform decision-making on drug approvals and pricing and reimbursement. While there is no globally standardised procedure, these assessments typically focus on cost-effectiveness analyses. As such, they can fail to adequately capture the value of treatments for rare diseases due to their small patient populations and consequently high per-patient treatment costs.

In response to this gap, the experts participating in the meeting developed a “Rule of Prevention” framework for HTA in transmissible rare diseases, which holds values such as prevention, severity, and equity at its core. It is intended for use in cases where there is a preventive intervention but no curative treatment, and provides greater flexibility to allow for broader value benefits despite uncertainty. When applied in this manner, the proposed framework would provide a consistent approach to assessing rare transmissible diseases, and would benefit health systems and the general public alike by reinforcing the prevention of rare transmissible diseases.

A new study conducted at a German expert centre for rare inflammatory systemic diseases with renal involvement demonstrates why rapid referrals to such centres are key for timely diagnosis of rare diseases.

People living with rare diseases commonly go through years-long diagnostic odysseys before finally receiving a diagnosis and being able to access appropriate treatment. This is exacerbated in many cases by the large number of RD and consequent lack of specific expertise among most health professionals. By retrospectively analysing the diagnostic pathways of patients treated at the centre, researchers were able to shed light on its diagnostic efficiency, and demonstrate why it is so important to refer patients to specialised, expert care as quickly as possible.

Of the 78 patients included in this study, only 21% were correctly diagnosed without the help of an expert. Once beginning treatment at the expert centre, patients received an accurate diagnosis relatively quickly, however on average they waited 4 years for a referral. These findings demonstrate that a lack of referral to an expert centre is a major factor in prolonging the diagnostic odyssey. As such, it is vital that health professionals refer patients to centres of expertise as soon as it becomes apparent they have an undiagnosed rare disease, in order to facilitate timely diagnosis, early treatment, and optimal health outcomes.

An article has been published in the journal Arts & Health exploring how collage can be used as an arts-based research method to understand the experiences of families affected by rare diseases. In this study, parents of children with rare diseases participated in 10 weeks of collaging workshops via Zoom, in which they created artistic representations of their experiences.

The authors found that this method of data collection was effective at bringing to light complex, sensitive, and often elusive aspects of these experiences while allowing participants to maintain a sense of security and comfort. Beyond validating collage as a viable method for person-centred rare disease research, the study also identified common themes across participants’ experiences. These included reflections on motherhood and care, the challenges of being heard, and balancing family life alongside medicalisation.

"Mother Life," one of the participants' collages (Gorman et al, 2023)

Overall, this study demonstrates the potential of collage and other arts-based research methods for collecting more complex, multi-dimensional understandings of patient and family experiences. In addition to the data collected, the authors noted the convivial, sociable atmosphere which developed among participants during the workshops. This indicates that such studies can provide emotional support to participants, in addition to eventual gains they might enjoy from research findings.