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. 2020 Jan 21;10:879. doi: 10.1038/s41598-020-57795-0

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Implementation of pharmagenic enrichment score (PES) in precision treatment and prophylaxis of complex disorders. (a) Using the PES framework individuals with a complex disorder provide DNA for common variant SNP genotyping, which is used to ascertain individuals with a high PES. The PES groups (heatmap rows 1–9, with enrichment denoted by darker colour) intrinsically identify precision treatment options tailored to the individual’s biological enrichment (of pathways with known drug targets) for polygenic risk in that pathway. (b) A more advanced implementation of PES could be achieved for prophylactic intervention for individuals in the population at very high polygenic risk for a variety of complex traits with clinical actionability (heatmap rows A-I, with high PRS denoted by darker colour). Conservative prophylactic measures in this context may account for environmental risk exposure and focus on lifestyle interventions, such as diet and exercise, rather than pharmaceutical treatments that may not be justified without symptom presentation because of their side effect and/or cost.