Edition of 11 February 2025

A new article has been published in Health Policy and Technology which aims to identify challenges in the development and financing of innovative medical devices and propose solutions to overcome them.

Using a Delphi consensus methodology, the authors collected questionnaire responses from experts representing five different groups of stakeholders: innovators, venture capital investors, health insurers, healthcare providers, and governmental agencies. Participants were asked to list and prioritise barriers that they perceived to be of influence in the successful development and financing of innovative medical devices. Based on this data, the study identified eight barriers which stood out in terms of high priority and degree of consensus:

• Uncertainty about the burden of proof required for obtaining payment
• Challenges in sufficiently demonstrating cost-effectiveness and efficiency in the translational phase
• Lack of business cases for preventative medical devices within the cure sector
• Misalignment of the objectives of temporary funding (subsidies) and structural reimbursement
• Lack of payment for continuous evolution of processes such as workflow and care pathway as devices change
• Misattribution of benefits to parties who do not bear the costs of development
• Compartmentalisation of healthcare payment and provision
• Increased healthcare costs as a result of innovation

In response to these barriers, the study identified a total of 22 possible solutions. These were largely focused on aspects such as timely communication, alternative payment models, and disincentivising low-value care.

Recently, an article was published in the Journal of Community Genetics which explores the challenges associated with conducting basic and translational research in rare diseases in low- and middle-income countries (LMIC). The paper discusses a range of factors specific to conducting research in LMIC, and proposes possible solutions for overcoming the barriers they create in order to improve healthcare quality and treatment availability in LMIC.

While people living with a rare disease (PLWRD) around the world face specific challenges due to the rarity of their conditions, these challenges are typically exacerbated in LMIC due to financial and expert resource constraints. In regards to research specifically, conducting both basic and translational research is more complicated in these regions due to a lack of funding, adequate expertise, and infrastructure.

In this article, the authors focus on three specific barriers to RD research in LMIC. Firstly, a lack of expertise and networks can force patients to seek care in other countries, leading to incomplete data availability on their characteristics and outcomes. One possible solution to this is the establishment of reference centres or network-based collaborative projects at the national level when expertise is scarce. Combined with the use of telemedicine platforms, this would improve the availability of patient data nationwide and facilitate both basic and translational research.

The second barrier identified is insufficient laboratory resources and diagnostic tools. The cost of technologies required to study and diagnose RD is often prohibitive in countries medical and/or research systems have limited funding. In order to overcome these financial barriers, the authors suggest innovative approaches such as pooled procurement of chemical supplies across LMIC, the use of portable diagnostic technologies, and a reduction of import taxes on supplies for RD research and diagnosis.

Finally, the authors discuss the lack of patient advocacy groups (PAGs), particularly disease-specific ones, in LMIC. PAGs play a critical role in RD research through clinical trial recruitment, advocacy, and fundraising activities. Following the blueprint created by successful initiatives such as Rare Diseases South Africa and prioritising capacity-building through dedicated training and funding could help amplify PAG impact in LMIC, thus facilitating more and higher-quality research.

Overall, there are a number of strategies LMIC can pursue in order to strengthen RD research. This paper places particular emphasis on the importance of international collaborations, recommending that they focus on the development of global funding mechanisms, promoting the use or artificial intelligence in diagnostics, and encouraging open data through cross-border registries.

An article was recently published in The Lancet Regional Health Europe which describes the achievements, ongoing activities and future priorities of the 2025 French Genomic Medicine Initiative (Plan France Médecine Génomique 2025, PFMG2025).

The PFMG2025 aims to facilitate the integration of genome sequencing into clinical practice at the national level, with the ultimate objective of providing more accurate diagnostics and personalised treatment. Since its launch in 2016, the initiative has primarily focused on patients with rare diseases, cancer genetic predisposition, and cancers. As of the end of 2023, it had established an operational framework and delivered 12,737 results to prescribers, representing a diagnostic yield of 30%. Moving forward, PFMG2025’s priorities are economic sustainability, strengthening links with research, patient/practitioner empowerment, and collaboration with European partners.