European Organisation for Rare Diseases

Multi-omics in combination with advanced computational methodologies synthesizes diverse omics data to provide deeper insights into molecular interactions and offers transformative potential for unravelling phenomenon behind disease complexities, improving diagnostics, disease prevention, and personalized treatments. This integrative strategy enables our understanding of gene-environment relationships, chronic disease progression, and the intricate molecular pathways involved in health. Effective multi-omics analyses require robust data sharing, accessibility, interoperability, and governance, which are critical for linking genomic elements to phenotypic traits. The Global Alliance for Genomics and Health advocates for responsible data-sharing practices, by promoting key principles such as transparency and equity. By emphasizing a collaborative approach to data utilization, our proposed framework seeks to advance improved disease prevention and treatment strategies. Multi-disciplinary collaboration, encompassing researchers, clinicians, policy makers, and patient representatives, is pivotal for driving innovation and addressing rare disease diagnostics. The success of multi-omics applications hinges on the establishment of comprehensive datasets, understanding the functional implications of multi-omic variation, adherence to findable, accessible, interoperable, reusable (FAIR) and Collective Benefit, Authority to Control, Responsibility, and Ethics (CARE) principles, and the strengthening of global genomic commons, benefiting scientific research, drug development, and broader health initiatives. Our review highlights essential components of multi-omics integration, underscoring its potential to transform the landscape of precision medicine and improved patient outcomes worldwide.

The European Joint Programme on Rare Diseases successfully advanced rare disease research and also revealed challenges for underrepresented countries, those less frequently holding or leading grants. This study aimed to survey Rare Disease researchers in these countries, identify barriers to participation in research, and propose solutions. A modified Delphi approach without formal consensus thresholds of 186 respondents highlighted fragmented or outdated policies and heterogeneous funding. Nearly all participants prioritized the need for EU-wide policies defining minimum quality standards for Rare Disease care. Key priorities include access to genetic testing and essential services to support uniform care and shared research capacity.

Genomics is transforming health care but its implementation raises challenges. This paper reports a 2025 workshop on justice in the implementation of genomics for rare disorders. The workshop goals were to develop a consensus understanding of the problems faced by rare disease patients and families where justice is at stake, to achieve a shared perspective on support for rare disease patients, and to consider the implications for justice in several areas of rare disease genomics, in both research and healthcare. We heard about the diverse experiences and needs of patients. Inequity between different rare diseases is marked. The need for coordination of care for rare disease patients is under-recognized but good models of rare disease care exist. The value of conscientious professionalism to nurture a rare disease mindset needs to be emphasized in the training of each new generation of healthcare students//trainees. The circumstances of different population groups differ systematically. The needs of indigenous and other historically marginalised groups must also be addressed. However, the subordination of individuals to the benefit of the population (i.e. eugenics) must be resisted. Those engaged in genomics projects or diagnostics may need protection from hype and misuse of their personal data, There are different perspectives on the fair allocation of resources to healthcare and research for rare conditions. Health economics and health technology assessment can be practised equitably, so as to meet the challenges of rare disease clinical trials and address the needs of patients and communities.

With advanced tools and techniques, it is now possible to genetically diagnose an increasing number of individuals with rare diseases for which no disease-modifying treatment exists. For a subset of affected individuals, it is possible to develop individualized interventions to modulate and/or correct the underlying genetic defect. Communicating to such individuals and their guardians about the potential risks and benefits of such experimental therapies poses special challenges. In addition to typical procedures used for consenting subjects of clinical trials or off-label therapy, individualized therapy protocols involve a complex interplay between biological plausibility, preclinical data, risks, uncertainties, and ethical considerations of equipoise, especially since individualized treatments are usually developed for serious conditions. While no formal guidance exists, this perspective was drafted from the shared experience of clinicians and developers involved in treating affected individuals with individualized antisense oligonucleotides (ASOs) to provide preliminary guidance on communication and consent. As additional experience and expertise accrue over time, we anticipate that these principles will evolve with subsequent modifications to this document.

Abstract Background EUPATI Spain and EURORDIS have implemented a patient engagement model in health product research and development (R&D): international, independent Community Advisory Boards (CABs), where patients collaborate with health product companies in patient-led CAB meetings. We have evaluated the methodology of these CAB meetings. Methods We conducted a mixed-methods cross-sectional survey study from 2022 to 2023 to analyze the satisfaction level and perceived usefulness of CAB meetings between CAB members and company representatives across 15 CAB meetings. After each meeting, participants received an online survey comprising ten closed-ended questions on a five-point Likert scale and two open-ended questions about key takeaways and issues to improve. Written responses to open-ended questions were analyzed by AI-assisted ATLAS.ti, which categorized and quantified them semantically, and by contextual relevance and frequency. Characteristics of meetings and participants were reported, and survey responses were compared between CAB members and company representatives. Results Most meetings were hybrid (53.3%). A total of 252 participants attended the meetings (158 [62.7%] CAB members, 94 [37.3%] company representatives). The overall survey response rate was 54.8%, 59.5% among CAB members and 46.8% among company representatives. Most participants found the meetings useful (86.0% CAB, 93.2% company), were satisfied with the topics addressed (77.4% CAB, 93.2% company), and met their expectations (76.7% CAB, 93.2% company). Both groups considered that the company understood the CAB’s point of view (80.2% CAB, 90.9% company). Still, only 59.3% of CAB members thought the company would reconsider its plans, vs. 88.6% of company representatives. The three main takeaway areas were “Collaboration and Partnerships”, “Study Design and Protocols”, and “Communication and Education”. The main issue to improve was “Meeting Organization and Structure”. Conclusions Overall, the satisfaction level and perceived usefulness of the CAB meetings were favorable. CAB members exhibited less favorable responses to all closed-ended questions than company representatives, especially regarding the possible influence on company actions. The open-ended responses reflected higher levels of agreement and collaboration, supporting the CAB model’s potential. Some issues, mainly related to meeting organization and the hybrid format, need improvement. Future studies are required to assess the actual impact of CAB meetings on R&D. Plain English summary EUPATI Spain and EURORDIS have implemented a patient engagement model in health product research and development: Community Advisory Boards (CABs). CABs are international, independent groups of patient representatives selected by their community who meet regularly with health product companies to discuss a wide range of topics, from study design to compassionate use of therapies. We have analyzed the satisfaction level and perceived usefulness of CAB meetings for CAB members and company representatives who attended 15 CAB meetings from 2022 to 2023, using a seven-minute online survey after each meeting. The survey included ten closed-ended questions and two open-ended questions on key takeaways and issues to improve. The feedback was highly positive. Most participants found the meetings useful, were satisfied with the topics addressed, and met their expectations. However, CAB members exhibited slightly less favorable responses to all closed-ended questions than company representatives, especially regarding the influence of CAB meetings on future company actions. The three main takeaway areas were “Collaboration and Partnerships”, “Study design and Protocols”, and “Communication and Education”; and the main issue to improve was “Meeting Organization and Structure”. Overall, the results were favorable. Although the closed-ended questions showed less confidence among CAB members on the future influence of the meetings, the comments from the open-ended questions reflected higher levels of agreement and collaboration and supported our CAB model’s potential. Some issues, mainly related to meeting organization and the hybrid format, need improvement. Future studies are required to assess the actual impact of CAB meetings on companies’ actions.