Due to limited awareness and treatment choices, rare diseases are frequently misdiagnosed or diagnosed late, sometimes remaining undetected. This results in avoidable health decline and loss of life. Our client, a global pharmaceutical leader, aimed to detect rare disease patients early, addressing medical gaps and enhancing patient well-being and lifespan.
Our AI/ML solution successfully identified rare disease patients early, connecting them to suitable healthcare providers. Using cohort creation and predictive modeling, we achieved 72% accurate, early identification, surpassing clinical methods. Notably, we identified 1% of new undiagnosed patients with a high likelihood of a rare disease, demonstrating the impactful value delivered.