Article
Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2025
Beckwith Martha A, Danis Daniel, Bridges Yasemin, Jacobsen Julius O B, Smedley Damian, Robinson Peter N
Abstract excerpt
PURPOSE: Clinical intuition is commonly incorporated into the differential diagnosis as an assessment of the likelihood of candidate diagnoses based either on the patient population being seen in a specific clinic or on the signs and symptoms of the initial presentation. Algorithms to support diagnostic sequencing in individuals with a suspected rare genetic disease do not yet incorporate intuition and instead...
Read the complete abstract on PubMedTopics
- Humans
- Phenotype
- Algorithms
- Genetic Diseases, Inborn
- Intuition
- Genetic Testing