Opinion: Using telehealth to revolutionize the speed of making rare disease diagnoses
For a person living with a rare disease, it can take five years or longer to receive an accurate diagnosis. With more than 40% of patients initially misdiagnosed, this “diagnostic odyssey” can have serious and long-term health consequences for the 300 million individuals affected by rare diseases and their families. It is also incredibly frustrating.
A key factor contributing to initial misdiagnoses is the shortage of clinical geneticists. Despite an estimated three-quarters of rare diseases being genetic in origin, there are significant barriers in accessing appropriate genetic counseling.
