HIT Consultant March 25, 2021
Haim Neerman, CEO of Variantyx

For medical practitioners expertly trained in the scientific methods of discovery, having a young patient with serious health complications from an undiagnosed condition is about as somber and frustrating as it gets. These feelings are only magnified for parents of the patient, especially when searching for a diagnosis can go on for years. This is the essence of what is known as the “diagnostic odyssey.”

Honing in on a rare disease diagnosis involves thorough medical history evaluations, genetic and other testing, medical records review, in-person interviews, physical examinations, and evaluations of family members with similar symptoms. This process can be repetitive because primary doctors will refer to specialists who may, in turn, refer to other specialists if no answers can...

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