Edition of 02 November 2023

A new article published in Applied Health Economics and Health Policy discusses the difficulties associated with evaluating highly specialised technologies (HSTs), such as gene and cell therapies. The authors propose as a strategy to mitigate these challenges a “Living HTA framework,” which would help counter the high level of uncertainty which typically accompanies such therapies.

HSTs are typically novel, costly, and indicated for small, heterogenous patient populations. As such, information on their long-term safety and effectiveness tends to be limited and of poor quality. At the same time, they often represent one of the only treatment options for patients with rare diseases, and can be life-saving. This conflict makes it difficult for policy-makers to determine how HSTs should be funded, as traditional health technology assessment (HTA) frameworks do not adequately capture the societal value of such treatments.

In this article, a “Living HTA” framework is proposed which makes this societal value explicit by incorporating values and preferences from a range of societal perspectives in all phases of the HTA. Within this framework, data would be collected in real time, allowing a continues re-assessment of the clinical and cost-effectiveness of a given HTA until the level of certainty is sufficient to confirm a final funding decision.

A new article has been published in the International Journal of Environmental Research and Public Health which explores the impact of the COVID-19 pandemic on individuals with rare diseases. Taking a psychological perspective, the authors conducted a literature review which revealed a range of effects, and highlighted factors which were preventative of the most severe impacts.

While infection control measures were crucial to hindering the spread of COVID-19, lockdowns also increased levels of loneliness and social isolation, with repercussions for many individuals’ mental and physical health. This was especially true for people living with RD and their family members and caretakers, who faced sudden barriers to accessing important supportive resources and auxiliary care.

The papers analysed in this review revealed that people living with RD and those close to them experienced high levels of stress, anxiety, social isolation, and depressive moods during the pandemic. Together, they constituted a significant increase in psychological burden of disease. These impacts were often at least partially attributable to worry over the risk of infection and associated health concerns.

Lockdown measures disrupted many aspects of care for RD patients, including interruption of medical therapy, delays in accessing treatment, and greater enforced isolation. These measures made such individuals more vulnerable to many of the psychological impacts of the pandemic, as well as posing potential physical health risks. As a result, members of the RD community experienced an overall decrease in quality of life during the pandemic.

Interventions such as telehealth and psychological support services were critical to mitigating the impacts of COVID-19 for the RD community. The findings of this study highlight the need for broadening the accessibility of such services, as well as fostering multidisciplinary research on RD and strengthening healthcare systems’ capacity to maintain continuity of RD care in times of crisis. These efforts will help to protect members of the RD community from disproportionate psychological impacts during future public health emergencies.

A recent study published in the Orphanet Journal of Rare Diseases describes the evaluation of a Norwegian program to support parents of children with rare diseases during the transition from kindergarten to school.

The Parental Intervention Program for Preschool children with Rare Diseases (PIPP-RDs) was developed in 2002 by a National Resource Centre for Rare Diseases (TRS), and delivers a four-day workshop to parents of preschool children with RD. It is held once a year in January, and informs parents about potential challenges, strategies for effective communication, rights and obligations, and other tools to help them navigate the school system.

In order to understand the effectiveness of PIPP-RDs, both from the parent perspective and more objectively, a mixed-methods evaluation was conducted. Through a series of online questionnaires and semi-structured interviewers, researchers found that participants viewed the program very positively, and felt that it met their needs for knowledge and information. In particular, parents felt the program helped them set realistic expectations about the transition to school, and empowered them to advocate more effectively for their child.

The findings indicate that parents of preschool children with RD have unmet needs regarding access to information, and that programs such as PIPP-RDs can play an important role in filling this gap. Moving forward, there is a need for further study of preschool intervention programs across cultural and geographic contexts, to better understand their impact and how best to support parents of children with RD.

A scoping review has been published in Frontiers in Public Health which identifies key challenges in mapping European rare disease databases. Recent advances in artificial intelligence (AI) have opened the door for powerful algorithmic diagnostic and clinical decision support tools to help shorten the diagnostic odyssey for patients living with a rare disease. However, there are a number of barriers to sharing data from available sources which hinder the development of such tools. In this study, researchers sought to understand these challenges in order to pave the way for strategies which facilitate data sharing for the development of machine learning-based technologies for rare disease diagnosis.

One significant challenge identified was organisational factors. Rare disease databases have difficulty collecting data due to the geographic spread of patients, and data quality, sustainability, funding, and governance also create barriers. The authors highlight in particular the need for integration of the European Reference Networks into national healthcare systems in order to ensure sustainability. They also discuss the need to bring registries into accordance with FAIR (findable, accessible, interoperable, and reusable) data principles, and hurdles caused by the General Data Protection Regulation (GDPR) and other privacy legislation.

Overall, these findings shed light on the various challenges that must be addressed while moving towards the development of AI-based digital tools for rare diseases which make use of registry data. They provide a starting point for future research, which can guide rare disease database infrastructures to facilitate the development of such tools and help people living with a rare disease achieve timely diagnosis.