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Building the foundation for genomics in precision medicine

Abstract

Precision medicine has the potential to profoundly improve the practice of medicine. However, the advances required will take time to implement. Genetics is already being used to direct clinical decision-making and its contribution is likely to increase. To accelerate these advances, fundamental changes are needed in the infrastructure and mechanisms for data collection, storage and sharing. This will create a continuously learning health-care system with seamless cycling between clinical care and research. Patients must be educated about the benefits of sharing data. The building blocks for such a system are already forming and they will accelerate the adoption of precision medicine.

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Figure 1: The precision-medicine ecosystem.
Figure 2: Stages of the genetic interpretation process.
Figure 3: Creating and implementing robust standards for the description and structuring of data in laboratory processing and patient-care systems.
Figure 4: Example of a learning health-care system.

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Acknowledgements

H.L.R. was supported in part by NIH grants U41HG006834, U01HG006500 and U19HD077671. S.J.A. was supported in part by U41HG006834.

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Correspondence to Heidi L. Rehm.

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S.J.A. and H.L.R. are employees of Partners HealthCare, which is a stockholder of GeneInsight.

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Aronson, S., Rehm, H. Building the foundation for genomics in precision medicine. Nature 526, 336–342 (2015). https://doi.org/10.1038/nature15816

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