Time for change: a new training programme for morpho-molecular pathologists?

The evolution of cellular pathology as a specialty has always been driven by technological developments and the clinical relevance of incorporating novel investigations into diagnostic practice. In recent years, the molecular characterisation of cancer has become of crucial relevance in patient treatment both for predictive testing and subclassification of certain tumours. Much of this has become possible due to the availability of next-generation sequencing technologies and the whole-genome sequencing of tumours is now being rolled out into clinical practice in England via the 100 000 Genome Project. The effective integration of cellular pathology reporting and genomic characterisation is crucial to ensure the morphological and genomic data are interpreted in the relevant context, though despite this, in many UK centres molecular testing is entirely detached from cellular pathology departments. The CM-Path initiative recognises there is a genomics knowledge and skills gap within cellular pathology that needs to be bridged through an upskilling of the current workforce and a redesign of pathology training. Bridging this gap will allow the development of an integrated 'morphomolecular pathology' specialty, which can maintain the relevance of cellular pathology at the centre of cancer patient management and allow the pathology community to continue to be a major influence in cancer discovery as well as playing a driving role in the delivery of precision medicine approaches. Here, several alternative models of pathology training, designed to address this challenge, are presented and appraised

Personalising medicine : feasibility and future implications from a payers' perspective

There are considerable differences in how patients respond to treatments due to a number of factors calling for personalised approaches to care, which is happening. However, the early promise of personalised medicine has not always translated into improved care for patients. Payers have concerns that current tests can be costly, requests for funding specific tests have subsequently been reversed as more information becomes available, and there is currently fragmentation in the funding of diagnostic tests. Payers also have concerns that pharmaceutical companies are exploiting the situation by seeking orphan status for their new targeted medicines driving up requested prices. It is also not clear who should fund biomarkers that accompany new expensive medicines. This is changing as the cost of tests come down, and payers develop new models to optimise the managed entry of new medicines as well as evaluate potential prices for new medicines for orphan diseases. There are also developments with ‘big data’ offering new understanding of disease complexity to enhance pipeline productivity and diagnosis as well as ongoing developments with drug resistance testing and research into the role of microbiomes to improve future health. Current challenges and concerns are being addressed. This will continue to improve patient care

Tackling the translational challenges of multi-omics research in the realm of European personalised medicine : A workshop report

Personalised medicine (PM) presents a great opportunity to improve the future of individualised healthcare. Recent advances in -omics technologies have led to unprecedented efforts characterising the biology and molecular mechanisms that underlie the development and progression of a wide array of complex human diseases, supporting further development of PM. This article reflects the outcome of the 2021 EATRIS-Plus Multi-omics Stakeholder Group workshop organised to 1) outline a global overview of common promises and challenges that key European stakeholders are facing in the field of multi-omics research, 2) assess the potential of new technologies, such as artificial intelligence (AI), and 3) establish an initial dialogue between key initiatives in this space. Our focus is on the alignment of agendas of European initiatives in multi-omics research and the centrality of patients in designing solutions that have the potential to advance PM in long-term healthcare strategies.Peer reviewe

Engaging surgeons among clinician-scientists

Since completion of the Human Genome Project at the turn of the century, there have been significant advances in genomic technologies together with genomics research. At the same time, the gap between biomedical discovery and clinical application has narrowed through translational medicine, so establishing the era of personalised medicine. In bridging these two disciplines, the clinician-scientist has become an integral part of modern practice. Surgeons and surgical diseases have been less represented than physicians and medical conditions among clinician-scientists and research. Here, we explore the possible reasons for this and propose strategies for moving forward. Discovery-driven personalised medicine is both the present and the future of clinical patient care worldwide, and South Africa is uniquely placed to build capacity for biomedical discovery in Africa. Diverse engagement across clinical disciplines, including surgery, is necessary in order to integrate modern medicine into a developing-world contextualised perspective

Issues in medicine: Engaging surgeons among clinician-scientists

Since completion of the Human Genome Project at the turn of the century, there have been significant advances in genomic technologies together with genomics research. At the same time, the gap between biomedical discovery and clinical application has narrowed through translational medicine, so establishing the era of personalised medicine. In bridging these two disciplines, the clinician-scientist has become an integral part of modern practice. Surgeons and surgical diseases have been less represented than physicians and medical conditions among clinician-scientists and research. Here, we explore the possible reasons for this and propose strategies for moving forward. Discovery-driven personalised medicine is both the present and the future of clinical patient care worldwide, and South Africa is uniquely placed to build capacity for biomedical discovery in Africa. Diverse engagement across clinical disciplines, including surgery, is necessary in order to integrate modern medicine into a developing-world contextualised perspective

Responsible personalised medicine: Exploring the ethical, legal, social, political and economic issues of manufacturing, distribution, access and reimbursement. A Report of the Responsible Personalised Medicine Project, UCL Future Targeted Manufacturing in Healthcare Hub

This report provides an overview of the ethical, legal, social, political and economic (ELSPE) issues underpinning the “manufacturing, business and regulatory challenges” that confront the development and delivery of affordable and accessible new targeted biological medicines. We specifically focus on the evolving definitions and its implication for the public understanding of personalised medicine (section 1), issues of manufacturing and distribution of Personalised Therapies (section 2) and institutional readiness (section 3) specifically focusing on emerging regulatory and reimbursement pathways (section 3.2) and how these are shaping or being shaped by ‘real world evidence’ (section 3.3). This is followed by our reflection on the implications of and for the entangled, complex and contingent interrelationships between personalised medicine, society and responsibility (section 4). Finally we conclude with discussion of the gaps and priorities for future ELSPE research on manufacturing of advanced biotherapeutics in terms of access, reimbursement, skills and infrastructure, regulation, responsible research and innovation (RRI) and the international political economy of emerging personalised medicine markets (section 5). This is a necessarily narrower review of the spectrum of ELSPE issues that attend personalised medicine activities and reflects this report’s aims to focus on those aspects of personalised medicine addressed by the UCL’s Future Targeted Manufacturing in Healthcare Hub

Personalized medicine: potential, barriers and contemporary issues

Trabalho Final de Mestrado Integrado, Ciências Farmacêuticas, 2020, Universidade de Lisboa, Faculdade de Farmácia.A medicina personalizada (PM), é um modelo de prática médica personalizada a cada doente por meio da identificação de características individuais, como a sua informação genética, histórico familiar e estilo de vida, e ganhou relevância significativa nas últimas décadas à medida que os avanços tecnológicos permitiram a compreensão das diferenças biológicas entre indivíduos. Além disso, a necessidade de uma abordagem mais econômica é considerada vital pelas várias entidades envolvidas nos cuidados de saúde. Na verdade, existem muitos potenciais benefícios da PM, incluindo a minimização do risco de toxicidade a determinados medicamentos e o aumento da eficácia dos mesmos, contribuindo assim para a sustentabilidade do sistema de saúde, e facilitando a descoberta de novas moléculas com ação terapêutica benéfica. Infelizmente, existem também muitas barreiras à sua implementação, nomeadamente aquelas relacionadas com custos, com a complexidade dos dados envolvidos, com a qualidade da evidências clínica, e a necessidade de educação e formação e de novas políticas regulatórias, barreiras estas que têm limitado a tradução clínica deste modelo médico para os cuidados de saúde atuais. Nesta dissertação, pretendemos abordar as características que ajudam a moldar a PM, o seu impacto na prática clínica, e as barreiras que precisam de ser superadas para demonstrar o valor deste modelo clinico inovador. Esperamos ter abordado uma série de questões que destacam o potencial impacto benéfico da PM, tendo em consideração a heterogeneidade da doença e a variabilidade genética inter-individual, a importância da segurança nas análises preditivas e da identificação de biomarcadores de eficácia, a relevância da farmacogenómica, as mudanças necessárias no desenho dos ensaios clínico, fatores que no seu conjunto permitirão o desenvolvimento de uma abordagem clínica mais adaptativa. Embora o impacto da PM possa já ser confirmado através de vários exemplos descritos nesta monografia, há várias etapas a serem realizadas para construir um modelo médico mais robusto. Esses esforços são descritos neste trabalho, bem como o papel vital dos Farmacêuticos, É ainda apresentada uma abordagem esquemática para a implementação a PM na prática clínica atual. O investimento em investigação e educação, novas políticas regulatórias, a aposta em novas técnicas de análise de big data, infraestruturas tecnológicas inovadoras, e alterações de padrões daindústria farmacêutica permitirão melhorar a qualidade de vida da população através da PM.Personalized medicine (PM), which refers to providing tailored medical treatment to individual patients through the identification of common features, including their genetics, inheritance, and lifestyle, has gained significant relevance over the last decades as technological breakthroughs have allowed for the understanding of biological differences between individuals. Moreover, the need for a more cost-effective approach has also been deemed vital by the various stakeholders involved in health care. Indeed, there are many potential benefits of PM, including minimizing the risk of drug toxicity and increasing the efficacy of the drugs used, contributing to the sustainability of the healthcare system, and facilitating drug discovery and development programs. Unfortunately, there are also many barriers such as cost, complexity, high quality evidence requirements, the need for further education and regulatory policies, which have limited the clinical translation of this medical model to current healthcare. In this dissertation we aimed to discuss on the characteristics that help shape PM, its perceived impact on clinical practice, and the barriers that have to be resolved in order to demonstrate the value of this innovative model. We hope that have addressed a number of issues that highlight the potential beneficial impact of PM, taking in consideration disease heterogeneity and genetic variability, the importance of predictive safety and efficacy biomarkers, the weight of Pharmacogenomics, and the importance of changes in the design of clinical trials that will enable a more adaptive clinical approach. Although the impact of PM is already in place to some degree, there are several steps to be made in order to build a more robust medical model. These efforts are described in this work, as well as the vital role of Pharmacists, and a schematic approach is proposed to implement PM into the current clinical practice. Research and Education investment, regulatory policies, big data analysis, technology infrastructures, and industry standards must be revised and change with the goal of securing patients’ quality of life through PM