Haematological setpoints are a stable and patient-specific deep phenotype.

Area of Science:

• Haematology
• Precision Medicine
• Clinical Diagnostics

Background:

• Complete blood count (CBC) is a routine screening tool for healthy adults.
• Current interpretation relies on generalized reference intervals, limiting personalized care.
• Precision medicine aims to tailor healthcare based on individual patient characteristics.

Purpose of the Study:

• To investigate the existence and stability of patient-specific setpoints for routine CBC indices.
• To determine if these setpoints reflect a deeper physiological phenotype.
• To assess the association of CBC setpoints with clinical risk and diagnostic accuracy.

Main Methods:

• Analysis of CBC data from thousands of diverse patients at an academic medical center.
• Identification and characterization of stable, patient-specific haematological setpoints.
• Retrospective analysis of setpoint associations with disease risk and diagnostic performance.

Main Results:

• Routine CBC indices exhibit stable, patient-specific setpoints, distinguishable from the general population.
• These setpoints persist for at least 20 years and reflect a deep physiological phenotype.
• CBC setpoints are associated with significant variations in clinical risk (e.g., cardiovascular disease, diabetes, mortality) and improve diagnostic sensitivity/specificity for various conditions.

Conclusions:

• Patient-specific CBC setpoints are stable and clinically informative.
• These setpoints enable personalized interpretation of test results, moving towards precision medicine.
• CBC setpoints offer a valuable tool for risk stratification and early disease detection in healthy adults.