Anyone working in rare disease knows how challenging it is to diagnose patients. Because of the vast clinical heterogeneity and low prevalence of rare diseases, physicians’ first-hand experiences of working with such patients and their awareness of relevant symptoms are often limited. A lack of standardized diagnostic criteria and screening tools further contributes to the knowledge gap in understanding rare diseases and complicates the ability to diagnose them.
Together, Ambit Inc. and Datavant are working to shorten the diagnostic journey for patients. The mechanism for that is leveraging these technologies’ predictive capabilities to flag patients with high odds of having a rare condition and “recommend” genetic testing for them, based on their symptoms, lab results, and diagnostic journey to date. AI algorithms can also be leveraged to support the development of new diagnostic tools, help identify patients for clinical trial enrollment, and ultimately enable researchers to develop life-saving therapies faster, at lower cost, and with greater certainty.
It’s no secret that AI and machine learning have taken the world by storm, but it may surprise you to learn that the healthcare industry – one that is typically slower to adopt and innovate - is starting to integrate these technologies into different aspects of their businesses.
With AI and ML revolutionizing drug discovery and clinical workflows, the focus now shifts to accelerating rare disease diagnosis. Teaming up with Datavant, we dove into the potentials and pitfalls of these advancements. Hear what we had to say: https://hubs.li/Q02BLcsK0
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