Unverified50% confidenceFactExact time
There are approximately 300 million rare disease patients worldwide, of whom about 80% are caused by genetic factors, yet currently fewer than half can obtain a definitive molecular diagnosis.
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50%
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Long-term
Relevance
9/10/2026
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Related Claims
UnverifiedRare disease patients require an average of 7 years and consultations with 8 physicians before receiving a diagnosis, and 50–70% of variants are variants of uncertain significance (VUS).65% similarUnverifiedIn the rare disease detection example, if the incidence rate is 0.1% and the false positive rate is 5%, the actual probability of having the disease given a positive test result is approximately 2%.64% similarUnverifiedMost common diseases (such as heart disease, diabetes, and cancer) result from the combined effects of multiple genes and environmental factors, and the predictive value of individual genetic variants is often very limited.62% similar
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