JMIR Publications

ABSTRACT

Background:

Patients with rare diseases often face fragmented healthcare, limited access to specialists, and challenges in securely sharing their medical records across providers. Emerging technologies such as blockchain offer a decentralized and tamper-resistant framework for personal health records (PHRs), but their feasibility in low-resource settings remains largely unexplored

Objective:

This study aimed to evaluate the feasibility, usability, and patient perceptions of a blockchain-enabled PHR system tailored for rare disease patients in low-resource healthcare environments

Methods:

We conducted a mixed-methods pilot study involving 32 patients with rare genetic and metabolic disorders in Faisalabad, Pakistan. Participants were enrolled in a blockchain-based PHR platform that allowed secure storage and controlled sharing of medical data. Quantitative data on system usage, error rates, and access patterns were collected over a 12-week period. Semi-structured interviews and focus groups were used to explore patient and caregiver experiences, perceived benefits, and challenges. Thematic analysis was applied to qualitative data, while descriptive statistics summarized quantitative measures.

Results:

Patients and caregivers reported high levels of trust in the blockchain system (78% expressed greater confidence compared to hospital records). Key perceived benefits included improved data ownership, reduced dependency on fragmented paper records, and greater willingness to share information with providers. However, barriers included limited digital literacy, occasional connectivity issues, and the need for ongoing technical support. Quantitatively, 85% of enrolled participants successfully accessed and updated their records at least once, while 62% shared data with external providers. Thematic analysis revealed three major themes: (1) empowerment through ownership (2) digital divides as barriers to adoption (3) the importance of community support in technology uptake

Conclusions:

Blockchain-enabled PHRs show promise for enhancing healthcare access, trust, and patient empowerment among rare disease populations in resource-constrained settings. Despite challenges related to usability and infrastructure, the pilot demonstrates potential for scaling such systems with targeted training and support. Further large-scale studies are needed to assess long-term sustainability and integration with existing health systems. Clinical Trial: not aplicable