RareMD, developed by RareMD Inc. in 2016, offers two primary tools to shorten the diagnostic odyssey for rare diseases: RareMDx™ for medical professionals and RareLook™ for patients and caregivers.
RareMDx™ for Medical Professionals This digital tool is specifically designed for frontline medical professionals to assist in early diagnostic decision-making. It enables users to input a patient's observable traits (phenotypes) and clinical data to generate a rare disease-inclusive differential diagnosis (DDx). The system uses a human intelligence (HI)–curated database of over 7,360 signs and symptoms and 4,023 rare diseases. A probability algorithm then generates a ranked list of up to ten suspected rare diseases.
RareLook™ for Patients and Caregivers RareLook™ is the layman-friendly version, empowering patients and their families to partner with their physicians in the diagnostic journey.
Business Model & Disclaimer The mission of RareMD is to offer both RareMDx™ and RareLook™ as a free global service to all end-users (medical professionals, patients, parents, and caregivers). The company is financially supported by pharmaceutical companies through sponsor programs. A critical disclaimer notes that the tools are not diagnostic but should be regarded as a “hypothetico-deductive method” to suggest candidate diseases that require further disease-specific testing for confirmation.