Maturing pharmacogenomic factors deliver improvements and cost efficiencies
An ever-expanding annotation of the human genome sequence continues to promise a new era of precision medicine. Advances in knowledge management and the ability to leverage genetic information to make clinically relevant, predictive, diagnostic, and targeted therapeutic choices offer the ability to...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Cambridge University Press
2023-01-01
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| Series: | Cambridge Prisms: Precision Medicine |
| Subjects: | |
| Online Access: | https://www.cambridge.org/core/product/identifier/S2752614322000035/type/journal_article |
| _version_ | 1797828695110451200 |
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| author | Joseph P. Jarvis Scott E. Megill Peter Silvester Jeffrey A. Shaman |
| author_facet | Joseph P. Jarvis Scott E. Megill Peter Silvester Jeffrey A. Shaman |
| author_sort | Joseph P. Jarvis |
| collection | DOAJ |
| description | An ever-expanding annotation of the human genome sequence continues to promise a new era of precision medicine. Advances in knowledge management and the ability to leverage genetic information to make clinically relevant, predictive, diagnostic, and targeted therapeutic choices offer the ability to improve patient outcomes and reduce the overall cost of healthcare. However, numerous barriers have resulted in a modest start to the clinical use of genetics at scale. Examples of successful deployments include oncologic disease treatment with targeted prescribing; however, even in these cases, genome-informed decision-making has yet to achieve standard of care in most major healthcare systems. In the last two decades, advances in genetic testing, therapeutic coverage, and clinical decision support have resulted in early-stage adoption of pharmacogenomics – the use of genetic information to routinely determine the safety and efficacy profile of specific medications for individuals. Here, through their complicated histories, we review the current state of pharmacogenomic testing technologies, the information tools that can unlock clinical utility, and value-driving implementation strategies that represent the future of pharmacogenomics-enabled healthcare decision-making. We conclude with real-world economic and clinical outcomes from a full-scale deployment and ultimately provide insight into potential tipping points for global adoption, including recent lessons from the rapid scale-up of high-volume test delivery during the global SARS-CoV2 epidemic. |
| first_indexed | 2024-04-09T13:08:29Z |
| format | Article |
| id | doaj.art-d4a954df6cd0406d8a38b1f47e8eb4ad |
| institution | Directory Open Access Journal |
| issn | 2752-6143 |
| language | English |
| last_indexed | 2024-04-09T13:08:29Z |
| publishDate | 2023-01-01 |
| publisher | Cambridge University Press |
| record_format | Article |
| series | Cambridge Prisms: Precision Medicine |
| spelling | doaj.art-d4a954df6cd0406d8a38b1f47e8eb4ad2023-05-12T11:18:13ZengCambridge University PressCambridge Prisms: Precision Medicine2752-61432023-01-01110.1017/pcm.2022.3Maturing pharmacogenomic factors deliver improvements and cost efficienciesJoseph P. Jarvis0Scott E. Megill1Peter Silvester2Jeffrey A. Shaman3https://orcid.org/0000-0001-7397-5755Coriell Life Sciences, Philadelphia, PA, USACoriell Life Sciences, Philadelphia, PA, USAThermo Fisher Scientific, Waltham, MA, USACoriell Life Sciences, Philadelphia, PA, USAAn ever-expanding annotation of the human genome sequence continues to promise a new era of precision medicine. Advances in knowledge management and the ability to leverage genetic information to make clinically relevant, predictive, diagnostic, and targeted therapeutic choices offer the ability to improve patient outcomes and reduce the overall cost of healthcare. However, numerous barriers have resulted in a modest start to the clinical use of genetics at scale. Examples of successful deployments include oncologic disease treatment with targeted prescribing; however, even in these cases, genome-informed decision-making has yet to achieve standard of care in most major healthcare systems. In the last two decades, advances in genetic testing, therapeutic coverage, and clinical decision support have resulted in early-stage adoption of pharmacogenomics – the use of genetic information to routinely determine the safety and efficacy profile of specific medications for individuals. Here, through their complicated histories, we review the current state of pharmacogenomic testing technologies, the information tools that can unlock clinical utility, and value-driving implementation strategies that represent the future of pharmacogenomics-enabled healthcare decision-making. We conclude with real-world economic and clinical outcomes from a full-scale deployment and ultimately provide insight into potential tipping points for global adoption, including recent lessons from the rapid scale-up of high-volume test delivery during the global SARS-CoV2 epidemic.https://www.cambridge.org/core/product/identifier/S2752614322000035/type/journal_articlepharmacogeneticsmedication managementpersonalized medicinemedication safetyadverse drug reactionspolypharmacy |
| spellingShingle | Joseph P. Jarvis Scott E. Megill Peter Silvester Jeffrey A. Shaman Maturing pharmacogenomic factors deliver improvements and cost efficiencies Cambridge Prisms: Precision Medicine pharmacogenetics medication management personalized medicine medication safety adverse drug reactions polypharmacy |
| title | Maturing pharmacogenomic factors deliver improvements and cost efficiencies |
| title_full | Maturing pharmacogenomic factors deliver improvements and cost efficiencies |
| title_fullStr | Maturing pharmacogenomic factors deliver improvements and cost efficiencies |
| title_full_unstemmed | Maturing pharmacogenomic factors deliver improvements and cost efficiencies |
| title_short | Maturing pharmacogenomic factors deliver improvements and cost efficiencies |
| title_sort | maturing pharmacogenomic factors deliver improvements and cost efficiencies |
| topic | pharmacogenetics medication management personalized medicine medication safety adverse drug reactions polypharmacy |
| url | https://www.cambridge.org/core/product/identifier/S2752614322000035/type/journal_article |
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