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Updated: Mar 31, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Building the foundation for genomics in precision medicine
Samuel J Aronson1,2, Heidi L Rehm1,3,4,5
1Partners HealthCare Personalized Medicine, Boston, Massachusetts 02115, USA.
Precision medicine offers significant healthcare improvements, but requires infrastructure changes for data sharing. Implementing these changes will accelerate the adoption of precision medicine through a continuously learning healthcare system.
Area of Science:
- Medical Informatics
- Genomics
- Healthcare Systems Engineering
Background:
- Precision medicine promises to revolutionize healthcare delivery.
- Genetics is increasingly guiding clinical decisions, with further growth anticipated.
- Current infrastructure and data-sharing mechanisms hinder rapid advancement.
Purpose of the Study:
- To outline the necessary changes for accelerating precision medicine adoption.
- To emphasize the importance of data infrastructure and patient engagement.
- To describe the vision of a continuously learning healthcare system.
Main Methods:
- Conceptual framework development for data infrastructure.
- Analysis of current healthcare system limitations.
- Literature review on precision medicine and data sharing.
Main Results:
- Fundamental changes in data collection, storage, and sharing are essential.
- A continuously learning healthcare system facilitates seamless research and clinical care integration.
- Patient education on data sharing benefits is crucial for system development.
Conclusions:
- The adoption of precision medicine can be accelerated by enhancing data infrastructure.
- Building blocks for a learning healthcare system are emerging.
- Proactive patient engagement and education are vital for success.
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