Cambridge prisms, Precision medicine最新文献

{"title":"Harnessing the power of genomics in hypertension: tip of the iceberg?","authors":"Hafiz Naderi, Helen R Warren, Patricia B Munroe","doi":"10.1017/pcm.2025.1","DOIUrl":"10.1017/pcm.2025.1","url":null,"abstract":"<p><p>Despite the blaze of advancing knowledge on its complex genetic architecture, hypertension remains an elusive condition. Genetic studies of blood pressure have yielded bitter-sweet results thus far with the identification of more than 2,000 genetic loci, though the candidate causal genes and biological pathways remain largely unknown. The era of big data and sophisticated statistical tools has propelled insights into pathophysiology and causal inferences. However, new genetic risk tools for hypertension are the tip of the iceberg, and applications of genomic technology are likely to proliferate. We review the genomics of hypertension, exploring the significant milestones in our current understanding of this condition and the progress towards personalised treatment and management for hypertension.</p>","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":"3 ","pages":"e2"},"PeriodicalIF":0.0,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11894416/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607345","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":"UK cancer vaccine advance - Recognising and realising opportunities.","authors":"Charles Craddock, Philip Earwaker, Matthew Fittall, Elisa Fontana, Divya Ganesh, Marco Gerlinger, Qamar Ghafoor, Robert P Jones, Victoria Kunene, Lennard Lee, Rebecca Lee, Siow-Ming Lee, Mark Linch, Martin Little, Justin Liu, Hayley McKenzie, Russell Petty, David J Pinato, Thomas Powles, Andrew Protheroe, Tim Robinson, Paul J Ross, Kai Keen Shiu, James Spicer, Stefan Symeonides, Michael Tilby, Dale Vimalachandran, Jenny Y Wang, Andrew Wardley, Helen Winter","doi":"10.1017/pcm.2024.5","DOIUrl":"10.1017/pcm.2024.5","url":null,"abstract":"<p><p>Vaccines have revolutionised the field of medicine, eradicating and controlling many diseases. Recent pandemic vaccine successes have highlighted the accelerated pace of vaccine development and deployment. Leveraging this momentum, attention has shifted to cancer vaccines and personalised cancer vaccines, aimed at targeting individual tumour-specific abnormalities. The UK, now regarded for its vaccine capabilities, is an ideal nation for pioneering cancer vaccine trials. This article convened experts to share insights and approaches to navigate the challenges of cancer vaccine development with personalised or precision cancer vaccines, as well as fixed vaccines. Emphasising partnership and proactive strategies, this article outlines the ambition to harness national and local system capabilities in the UK; to work in collaboration with potential pharmaceutic partners; and to seize the opportunity to deliver the pace for rapid advances in cancer vaccine technology.</p>","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":"3 ","pages":"e1"},"PeriodicalIF":0.0,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11811843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411804","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":"Challenges and solutions to system-wide use of precision oncology as the standard of care paradigm.","authors":"Nesrine Lajmi, Sofia Alves-Vasconcelos, Apostolos Tsiachristas, Andrew Haworth, Kerrie Woods, Charles Crichton, Theresa Noble, Hizni Salih, Kinga A Várnai, Harriet Branford-White, Liam Orrell, Andrew Osman, Kevin M Bradley, Lara Bonney, Daniel R McGowan, Jim Davies, Matthew S Prime, Andrew Bassim Hassan","doi":"10.1017/pcm.2024.1","DOIUrl":"https://doi.org/10.1017/pcm.2024.1","url":null,"abstract":"<p><p>The personalised oncology paradigm remains challenging to deliver despite technological advances in genomics-based identification of actionable variants combined with the increasing focus of drug development on these specific targets. To ensure we continue to build concerted momentum to improve outcomes across all cancer types, financial, technological and operational barriers need to be addressed. For example, complete integration and certification of the 'molecular tumour board' into 'standard of care' ensures a unified clinical decision pathway that both counteracts fragmentation and is the cornerstone of evidence-based delivery inside and outside of a research setting. Generally, integrated delivery has been restricted to specific (common) cancer types either within major cancer centres or small regional networks. Here, we focus on solutions in real-world integration of genomics, pathology, surgery, oncological treatments, data from clinical source systems and analysis of whole-body imaging as digital data that can facilitate cost-effectiveness analysis, clinical trial recruitment, and outcome assessment. This urgent imperative for cancer also extends across the early diagnosis and adjuvant treatment interventions, individualised cancer vaccines, immune cell therapies, personalised synthetic lethal therapeutics and cancer screening and prevention. Oncology care systems worldwide require proactive step-changes in solutions that include inter-operative digital working that can solve patient centred challenges to ensure inclusive, quality, sustainable, fair and cost-effective adoption and efficient delivery. Here we highlight workforce, technical, clinical, regulatory and economic challenges that prevent the implementation of precision oncology at scale, and offer a systematic roadmap of integrated solutions for standard of care based on minimal essential digital tools. These include unified decision support tools, quality control, data flows within an ethical and legal data framework, training and certification, monitoring and feedback. Bridging the technical, operational, regulatory and economic gaps demands the joint actions from public and industry stakeholders across national and global boundaries.</p>","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":"2 ","pages":"e4"},"PeriodicalIF":0.0,"publicationDate":"2024-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11062796/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140861693","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":"Cross-population applications of genomics to understand the risk of multifactorial traits involving inflammation and immunity.","authors":"Bana Alamad, Kate Elliott, Julian C Knight","doi":"10.1017/pcm.2023.25","DOIUrl":"10.1017/pcm.2023.25","url":null,"abstract":"<p><p>The interplay between genetic and environmental factors plays a significant role in interindividual variation in immune and inflammatory responses. The availability of high-throughput low-cost genotyping and next-generation sequencing has revolutionized our ability to identify human genetic variation and understand how this varies within and between populations, and the relationship with disease. In this review, we explore the potential of genomics for patient benefit, specifically in the diagnosis, prognosis and treatment of inflammatory and immune-related diseases. We summarize the knowledge arising from genetic and functional genomic approaches, and the opportunity for personalized medicine. The review covers applications in infectious diseases, rare immunodeficiencies and autoimmune diseases, illustrating advances in diagnosis and understanding risk including use of polygenic risk scores. We further explore the application for patient stratification and drug target prioritization. The review highlights a key challenge to the field arising from the lack of sufficient representation of genetically diverse populations in genomic studies. This currently limits the clinical utility of genetic-based diagnostic and risk-based applications in non-Caucasian populations. We highlight current genome projects, initiatives and biobanks from diverse populations and how this is being used to improve healthcare globally by improving our understanding of genetic susceptibility to diseases and regional pathogens such as malaria and tuberculosis. Future directions and opportunities for personalized medicine and wider application of genomics in health care are described, for the benefit of individual patients and populations worldwide.</p>","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":"2 ","pages":"e3"},"PeriodicalIF":0.0,"publicationDate":"2024-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10953767/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140319991","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":"Precision therapy in dilated cardiomyopathy: Pipedream or paradigm shift?","authors":"Saad Javed, Brian P Halliday","doi":"10.1017/pcm.2023.24","DOIUrl":"10.1017/pcm.2023.24","url":null,"abstract":"<p><p>Precision medicine for cardiomyopathies holds great promise to improve patient outcomes costs by shifting the focus to patient-specific treatment decisions, maximising the use of therapies most likely to lead to benefit and minimising unnecessary intervention. Dilated cardiomyopathy (DCM), characterised by left ventricular dilatation and impairment, is a major cause of heart failure globally. Advances in genomic medicine have increased our understanding of the genetic architecture of DCM. Understanding the functional implications of genetic variation to reveal genotype-specific disease mechanisms is the subject of intense investigation, with advanced cardiac imaging and mutliomics approaches playing important roles. This may lead to increasing use of novel, targeted therapy. Individualised treatment and risk stratification is however made more complex by the modifying effects of common genetic variation and acquired environmental factors that help explain the variable expressivity of rare genetic variants and gene elusive disease. The next frontier must be expanding work into early disease to understand the mechanisms that drive disease expression, so that the focus can be placed on disease prevention rather than management of later symptomatic disease. Overcoming these challenges holds the key to enabling a paradigm shift in care from the management of symptomatic heart failure to prevention of disease.</p>","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":"1 ","pages":"e34"},"PeriodicalIF":0.0,"publicationDate":"2023-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10953759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140319989","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":"Clinical translational research of liquid biopsy applications in prostate cancer and other urological cancers","authors":"Jingyi Huang, Da Huang, Xiaohao Ruan, Yongle Zhan, Stacia Tsun-Tsun Chun, Ada Tsui-Lin Ng, Rong Na","doi":"10.1017/pcm.2023.19","DOIUrl":"https://doi.org/10.1017/pcm.2023.19","url":null,"abstract":"An abstract is not available for this content so a preview has been provided. As you have access to this content, a full PDF is available via the ‘Save PDF’ action button.","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135729915","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Heterogeneity in precision oncology","authors":"Bartłomiej Tomasik, Filip Garbicz, Marcin Braun, Michał Bieńkowski, Jacek Jassem","doi":"10.1017/pcm.2023.23","DOIUrl":"https://doi.org/10.1017/pcm.2023.23","url":null,"abstract":"An abstract is not available for this content so a preview has been provided. As you have access to this content, a full PDF is available via the ‘Save PDF’ action button.","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":"438 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134975083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The ethical challenges of diversifying genomic data: A qualitative evidence synthesis","authors":"F. Hardcastle, K. Lyle, R. Horton, G. Samuel, S. Weller, L. Ballard, R. Thompson, L. Trindade, J. Gómez Urrego, D. Kochin, T. Johnson, N. Tatz-Wieder, E. Redrup Hill, F. Robinson Adams, Y. Eskandar, E. Harriss, K.S. Tsosie, P. Dixon, M. Mackintosh, L. Nightingale, A. Lucassen","doi":"10.1017/pcm.2023.20","DOIUrl":"https://doi.org/10.1017/pcm.2023.20","url":null,"abstract":"An abstract is not available for this content so a preview has been provided. As you have access to this content, a full PDF is available via the ‘Save PDF’ action button.","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":"42 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135878095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"UK biobank: Enhanced assessment of the epidemiology and long-term impact of coronavirus disease-2019.","authors":"Qi Feng, Ben Lacey, Jelena Bešević, Wemimo Omiyale, Megan Conroy, Fenella Starkey, Catherine Calvin, Howard Callen, Laura Bramley, Samantha Welsh, Allen Young, Mark Effingham, Alan Young, Rory Collins, Jo Holliday, Naomi Allen","doi":"10.1017/pcm.2023.18","DOIUrl":"10.1017/pcm.2023.18","url":null,"abstract":"<p><p>UK Biobank is an intensively characterised prospective cohort of 500,000 adults aged 40-69 years when recruited between 2006 and 2010. The study was established to enable researchers worldwide to undertake health-related research in the public interest. The existence of such a large, detailed prospective cohort with a high degree of participant engagement enabled its rapid repurposing for coronavirus disease-2019 (COVID-19) research. In response to the pandemic, the frequency of updates on hospitalisations and deaths among participants was immediately increased, and new data linkages were established to national severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) testing and primary care health records to facilitate research into the determinants of severe COVID-19. UK Biobank also instigated several sub-studies on COVID-19. In 2020, monthly blood samples were collected from approximately 20,000 individuals to investigate the distribution and determinants of SARS-CoV-2 infection, and to assess the persistence of antibodies following infection with another blood sample collected after 12 months. UK Biobank also performed repeat imaging of approximately 2,000 participants (half of whom had evidence of previous SARS-CoV-2 infection and half did not) to investigate the impact of the virus on changes in measures of internal organ structure and function. In addition, approximately 200,000 UK Biobank participants took part in a self-test SARS-CoV-2 antibody sub-study (between February and November 2021) to collect objective data on previous SARS-CoV-2 infection. These studies are enabling unique research into the genetic, lifestyle and environmental determinants of SARS-CoV-2 infection and severe COVID-19, as well as their long-term health effects. UK Biobank's contribution to the national and international response to the pandemic represents a case study for its broader value, now and in the future, to precision medicine research.</p>","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":" ","pages":"e30"},"PeriodicalIF":0.0,"publicationDate":"2023-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10953745/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44467859","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":"Optimizing human performance in extreme environments through precision medicine: From spaceflight to high-performance operations on Earth.","authors":"Michael A Schmidt, Jeffrey A Jones, Christopher E Mason","doi":"10.1017/pcm.2023.16","DOIUrl":"10.1017/pcm.2023.16","url":null,"abstract":"<p><p>Humans operating in extreme environments often conduct their operations at the edges of the limits of human performance. Sometimes, they are required to push these limits to previously unattained levels. As a result, their margins for error in execution are much smaller than that found in the general public. These same small margins for error that impact execution may also impact risk, safety, health, and even survival. Thus, humans operating in extreme environments have a need for greater refinement in their preparation, training, fitness, and medical care. Precision medicine (PM) is uniquely suited to address the needs of those engaged in these extreme operations because of its depth of molecular analysis, derived precision countermeasures, and ability to match each individual (and his or her specific molecular phenotype) with any given operating context (environment). Herein, we present an overview of a systems approach to PM in extreme environments, which affords clinicians one method to contextualize the inputs, processes, and outputs that can form the basis of a formal practice. For the sake of brevity, this overview is focused on molecular dynamics, while providing only a brief introduction to the also important physiologic and behavioral phenotypes in PM. Moreover, rather than a full review, it highlights important concepts, while using only selected citations to illustrate those concepts. It further explores, by demonstration, the basic principles of using functionally characterized molecular networks to guide the practical application of PM in extreme environments. At its core, PM in extreme environments is about attention to incremental gains and losses in molecular network efficiency that can scale to produce notable changes in health and performance. The aim of this overview is to provide a conceptual overview of one approach to PM in extreme environments, coupled with a selected suite of practical considerations for molecular profiling and countermeasures.</p>","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":" ","pages":"e27"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10953751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43190732","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}