Phenotype
What is a phenotype?
A phenotype refers to the observable characteristics or traits of an individual, including biological, behavioral, or cognitive markers. These traits can be physiological, anatomical, biochemical, or psychometric in nature.
Phenotypes are essential for understanding how genetic and environmental factors contribute to various conditions and traits. Certain phenotypes may be more common in individuals with specific diseases or conditions, aiding in diagnosis and treatment.
Computable phenotypes are a subset of phenotypes that can be identified directly from data within an electronic health record (EHR) and other ancillary data sources. These phenotypes are determined through algorithms and data processing, allowing for identification without requiring manual review by a physician.
How can phenotypes be used to improve healthcare?
Using a system that can sort through an EHR to identify a patient’s characteristics and match them to a phenotype can help with the diagnosis process. This can lead to a patient receiving prompt, accurate, and applicable care.
In clinical trials, phenotypes can play a role in patient selection by enabling the identification of individuals who meet specific criteria based on their health data. Additionally, analyzing phenotypic data can provide insights into which characteristics are most predictive of disease development or response to treatment, supporting the development of targeted therapies and personalized medicine.