ReviewJournal of community genetics2026
Transforming clinical trials in rare genetic diseases through telemedicine.
Review in Journal of community genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Rare genetic diseases present formidable challenges to diagnosis, management, and clinical trials due to their low prevalence, geographic dispersion of patients, protracted diagnostic odysseys, and scarcity of specialized expertise. These factors lead to significant logistical, financial, and emotional burdens on patients and caregivers, often prolonging trial timelines and limiting participant pools. Telemedicine offers transformative solutions by bridging geographical distances and disseminating specialized knowledge. It encompasses traditional approaches like video conferencing, digital health technologies for remote monitoring using mHealth and wearables and enables Decentralized Clinical Trials, significantly enhancing patient access and accelerating recruitment. European Reference Networks, utilizing the Clinical Patient Management System, facilitate cross-border expert collaboration and knowledge sharing for complex cases. Telegenetics democratizes access to genetic counseling and diagnostic services, while digital platforms provide crucial information and educational resources, fostering patient empowerment and self-management. The integration of Real-World Evidence from wearables and IoT devices, combined with advanced analytics like AI/ML, provides objective and continuous data, supporting regulatory decisions. Despite these benefits, challenges remain, including the inability to perform comprehensive physical examinations remotely, concerns about diagnostic accuracy, the digital divide and user adherence, and the lack of harmonized regulatory and policy frameworks across borders. Ethical considerations, data security, and the need for robust evidence and validated remote outcome measures are also critical. The consensus points towards a hybrid model of care and research, strategically combining telemedicine with essential in-person interactions. Future directions include rigorously evaluating clinical outcomes of telemedicine, developing user-friendly and validated technologies, harmonizing international policies, investing in digital literacy, and fostering coordinated collective intelligence networks to maximize patient knowledge capital and accelerate therapeutic development.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.