Unlocking The Power Of Data, Artificial Intelligence And Digital Innovations To Revolutionize Care For Rare Disease Patients

By Maria Kirsch, Scott Snyder, Faruk Abdullah, and Pierantonio Russo, MD, FCPP, FAAP, STS

Advancements in technology, such as AI and ML, are revolutionizing the rare disease ecosystem by addressing challenges in research, diagnosis, and treatment. ML algorithms can identify undiagnosed and misdiagnosed patients, leading to earlier interventions and improved outcomes. AI-driven drug development is speeding up the process of identifying and testing new drugs, while existing therapies are being explored for potential matches with rare diseases. Virtual twin testing using Generative AI is expediting drug development by creating virtual subjects for testing new medications. Comprehensive conversations and documentation can be captured through technology, improving communication and information capture in healthcare. These innovative solutions are transforming patient outcomes in the rare disease ecosystem.

The article highlights challenges in rare disease healthcare, such as limited documentation and resource-intensiveness. Generative AI is presented as a solution that produces detailed notes of conversations. Data-sharing platforms are crucial for collaboration and data-driven decision-making. Access to specialists and treatments is a significant barrier, and telehealth provides convenient access to clinicians. EVERSANA's patient-led virtual care model aims to improve access and break down barriers. Engaging patients and addressing health inequities are important for inclusive care. Support programs help families navigate the healthcare system. Explore how the integration of technology, innovation, and human connection can overcome barriers and improve patient outcomes.