Joseph P Jarvis, Scott E Megill, Peter Silvester, Jeffrey A Shaman
{"title":"Maturing pharmacogenomic factors deliver improvements and cost efficiencies.","authors":"Joseph P Jarvis, Scott E Megill, Peter Silvester, Jeffrey A Shaman","doi":"10.1017/pcm.2022.3","DOIUrl":"10.1017/pcm.2022.3","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":" ","pages":"e3"},"PeriodicalIF":0.0,"publicationDate":"2022-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10953741/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47937098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The environmental impact of data-driven precision medicine initiatives.","authors":"Gabrielle Samuel, Anneke M Lucassen","doi":"10.1017/pcm.2022.1","DOIUrl":"10.1017/pcm.2022.1","url":null,"abstract":"<p><p>Opportunities offered by precision medicine have long been promised in the medical and health literature. However, precision medicine - and the methodologies and approaches it relies on - also has adverse environmental impacts. As research into precision medicine continues to expand, there is a compelling need to consider these environmental impacts and develop means to mitigate them. In this article, we review the adverse environmental impacts associated with precision medicine, with a particular focus on those associated with its underlying need for data-intensive approaches. We illustrate the importance of considering the environmental impacts of precision medicine and describe the adverse health outcomes that are associated with climate change. We follow this with a description of how these environmental impacts are being addressed in both the health and data-driven technology sector. We then describe the (scant) literature on environmental impacts associated with data-driven precision medicine specifically. We finish by highlighting various environmental considerations that precision medicine researchers, and the field more broadly, should take into account.</p>","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":" ","pages":"e1"},"PeriodicalIF":0.0,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10953742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47407073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}