Can real-world data power faster breakthroughs in rare diseases?
Dr. Kamal-Uddin discusses how Real-World Data has the power to transform how we understand and treat rare diseases.
AI algorithms can detect subtle patterns in medical imaging, genomics, and electronic health records that might elude human review. A Nature Medicine study showed that AI outperformed radiologists in early lung-cancer detection (Ardila et al., 2019), highlighting how AI can support early, more accurate interventions.
AI enables predictive modeling that helps clinicians choose the most effective therapies for individual patients. In Nature Communications, researchers demonstrated an AI model that accurately predicted response to immunotherapy in lung cancer (Riaz et al., 2020). Such tools improve precision, minimize adverse effects, and enhance therapeutic outcomes.
When combined with wearable technologies, AI can continuously monitor health parameters, detect anomalies, and anticipate complications. A Nature study showed AI predicting acute kidney injury before onset (Komorowski et al., 2018), paving the way for proactive care and cost reduction.
Despite its promise, AI adoption in precision medicine must address ethics, data privacy, and human oversight. Responsible implementation requires transparent algorithms, bias mitigation, and strong governance frameworks to ensure technology benefits both patients and clinicians.
Ardila, D., Kiraly, A. P., Bharadwaj, S., Choi, B., Reicher, J. J., Peng, L., … & Lungren, M. P. (2019). End-to-end lung cancer screening with three-dimensional deep learning on low-dose chest computed tomography. Nature Medicine, 25(6), 954–961.
Komorowski, M., Celi, L. A., Badawi, O., Gordon, A. C., & Faisal, A. A. (2018). The Artificial Intelligence Clinician learns optimal treatment strategies for sepsis in intensive care. Nature, 172–176.
Riaz, N., Havel, J. J., Makarov, V., Desrichard, A., Urba, W. J., Sims, J. S., … & Hellmann, M. D. (2020). Integrating genomic and clinical data to predict response to immunotherapy in lung cancer. Nature Communications.