The Changing Concept of Actionability in Precision Medicine

Area of Science:

• Genomics
• Medical Informatics
• Health Systems Research

Background:

• The concept of 'actionability' in precision medicine originated from identifying incidental findings in genetic research.
• It evolved to encompass catalogued genetic variants that are both potentially pathogenic and targetable with drugs.

Purpose of the Study:

• To trace the origins, development, and current applications of 'actionability' in precision medicine.
• To identify key actors and historical developments influencing the concept of actionability.

Main Methods:

• Qualitative document analysis was employed to examine the evolution of the concept.
• The study analyzed how actionability addresses emerging problems in genomic testing and clinical practice.

Main Results:

• Identified distinct groups of actors promoting the concept of actionability.
• Documented the concept's adaptation to address issues like research-to-clinical translation, information overflow, complex results, and health system integration.

Conclusions:

• The concept of actionability has evolved significantly to meet the complex demands of precision medicine.
• It serves as a crucial interface for translating genomic information into clinical practice, despite inherent challenges.