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

Patient-centric trials for therapeutic development in precision oncology

An enhanced understanding of the molecular pathology of disease gained from genomic studies is facilitating the development of treatments that target discrete molecular subclasses of tumours. Considerable associated challenges include how to advance and implement targeted drug-development strategies. Precision medicine centres on delivering the most appropriate therapy to a patient on the basis of clinical and molecular features of their disease. The development of therapeutic agents that target molecular mechanisms is driving innovation in clinical-trial strategies. Although progress has been made, modifications to existing core paradigms in oncology drug development will be required to realize fully the promise of precision medicine

Consumer acceptance of nutrigenomics based personalised nutrition

Nutrigenomics is a new and promising development in nutritional science which aims to understand the fundamental molecular processes affected by foods. Despite general agreement on its promise for better understanding diet¿health relationships, less consensus exists among experts on the potential of spin-offs aimed at the consumer such as personalised nutrition. Research into consumer acceptance of such applications is scarce. The present study develops a set of key hypotheses on public acceptance of personalised nutrition and tests these in a representative sample of Dutch consumers. An innovative consumer research methodology is used in which consumers evaluate short films which are systematically varied scenarios for the future of personalised nutrition. Consumer evaluations of these films, which are pre-tested in a pilot study, allow a formal test of how consumer perceptions of personalised nutrition drive consumer acceptance and through which fundamental psychological processes these effects are mediated. Public acceptance is enhanced if consumers can make their genetic profile available free at their own choice, if the actual spin-off products provide a clearly recognisable advantage to the consumer, and are easy to implement into the daily routine. Consumers prefer communication on nutrigenomics and personalised nutrition by expert stakeholders to be univocal and aimed at building support with consumers and their direct environments for this intriguing new development. Additionally, an exploratory segmentation analysis indicated that people have different focal points in their preferences for alternative scenarios of personalised nutrition. The insights obtained from the present study provide guidance for the successful further development of nutrigenomics and its applications

A Roadmap for Genomics in Healthcare

PlaybookNo âmbito do projeto Europeu B1MG, WP5, o INSA coordenou o desenvolvimento de um playbook intitulado "A roadmap for genomics in healthcare" que reúne informação útil aos sistemas de saúde que pretendam implementar a medicina genómica. Suportado pelo MLM, o playbook propõe um conjunto de passos sugeridos para que esta implementação seja mais fácil e eficiente. Este documento constitui a versão atual do playbook, que se pretende, no futuro, seja atualizado com os mais recentes avanços e inovações nas várias áreas essenciais à medicina genómica.The B1MG project has received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement No 951724.N/

Citizen engagement initiatives in precision health in the European Union member states: A scoping review

Precision health requires citizens that are empowered to orient health decisions towards their personal values, aware of the benefits and risks, and committed to sharing their personal data to trustful institutions. Effective citizen engagement initiatives are fundamental for the success of a precision health approach. To provide an overview of citizen engagement initiatives in precision health in European Union (EU) member states. Scoping review. The electronic databases PubMed, Web of Science, CINAHL and Embase were searched to include articles published in English. Furthermore, desk research was conducted in English, Dutch, French, Italian and Spanish. Articles or reports regarding ongoing initiatives of citizen engagement in precision health conducted in EU member states and published from January 2015 to July 2020 were considered eligible. A quality assessment of the retrieved entries using Critical Appraisal Skills Programme tool was conducted. We identified nine documents, which reported eight ongoing citizen engagement initiatives, with substantial variability. Government agencies, non-governmental organisations and scientific societies were the main organisers and funders. Most of the initiatives were conducted in the UK. Genomics was the most emphasised aspect of precision health in these initiatives. Among the identified initiatives, both in-person and digital means were reported. Our work provides an overview of current citizen engagement initiatives in the EU that can be useful for stakeholders interested in designing and developing precision health projects enriched by meaningful citizen participation. CRD42020193866

Roadmap for genomics in healthcare

Apresentação feita por convite.Na reunião presencial dos grupos de trabalho (WGs) da iniciativa 1+MG e do projeto B1MG, que decorreu nos dias 11-13 de Setembro de 2023, em Bruxelas, apresentou-se o documento, produzido pelo WP5, intitulado "A roadmap for genomics in healthcare". Esta apresentação foi integrada na agenda da reunião específica do WG6 que se dedica ao desenvolvimento dos aspetos económicos relevantes para a implementação sustentável da medicina genómica.The B1MG project has received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement No 951724N/

The burden of proof: the current state of atrial fibrillation prevention and treatment trials

Atrial fibrillation (AF) is an age-related arrhythmia of enormous socioeconomic significance. In recent years, our understanding of the basic mechanisms that initiate and perpetuate AF has evolved rapidly, catheter ablation of AF has progressed from concept to reality, and recent studies suggest lifestyle modification may help prevent AF recurrence. Emerging developments in genetics, imaging, and informatics also present new opportunities for personalized care. However, considerable challenges remain. These include a paucity of studies examining AF prevention, modest efficacy of existing antiarrhythmic therapies, diverse ablation technologies and practice, and limited evidence to guide management of high-risk patients with multiple comorbidities. Studies examining the long-term effects of AF catheter ablation on morbidity and mortality outcomes are not yet completed. In many ways, further progress in the field is heavily contingent on the feasibility, capacity, and efficiency of clinical trials to incorporate the rapidly evolving knowledge base and to provide substantive evidence for novel AF therapeutic strategies. This review outlines the current state of AF prevention and treatment trials, including the foreseeable challenges, as discussed by a unique forum of clinical trialists, scientists, and regulatory representatives in a session endorsed by the Heart Rhythm Society at the 12th Global CardioVascular Clinical Trialists Forum in Washington, DC, December 3–5, 2015

Policy Brief - Genomics in Healthcare: Key issues for implementation

Relatório disponibilizado online, no âmbito do Projeto B1MG https://www.icpermed.eu/en/1020.phpO projeto Beyond 1 Million Genomes (B1MG) organizou três Country Exchange Visits (CEV) a países europeus com estratégias genómicas avançadas, nomeadamente o Reino Unido, a Estónia e a Finlândia. Representantes dos países signatários da iniciativa Europeia de 1 Milhão de Genomas (1+MG) participaram nesses eventos, alguns dos quais apresentaram as respetivas iniciativas nacionais para a medicina genómica. Estas visitas promoveram uma discussão aberta sobre os pontos chave para a implementação sustentável da medicina genómica nos serviços de saúde nacionais. Com base nas boas práticas apresentadas, e em exemplos reais dos países anfitriões, produziu-se um Policy Brief, intitulado "Genomics in Healthcare: key issues for implementation", que compila recomendações em áreas essenciais à implementação sustentável da medicina genómica nos sistemas de saúde Europeus, nomeadamente: (i) o envolvimento dos cidadãos e dos doentes; (ii) as infraestruturas e regulamentação necessárias na prática clínica; (iii) a formação e capacitação de profissionais de saúde; (iv) a construção de um ecossistema sustentável baseado em sinergias entre sistemas de saúde, investigação e indústria.Funding from the European Union's Horizon 2020 research and innovation programme under grant agreement No 951724N/

Mainstreaming of genomic medicine in gastroenterology, present and future: a nationwide survey of UK gastroenterology trainees

Objective: Genomics and personalised medicine are increasingly relevant for patients with gastroenterological conditions. We aim to capture the current state of genomics training in gastroenterology to review current understanding, clinical experience and long-term educational needs of UK trainees. // Design and setting: A web-based nationwide survey of all UK gastroenterology specialty trainees was conducted in 2017. // Results: 100 trainees (14% of UK gastroenterology trainees) completed this survey. Only 9% and 16% of respondents believe that their local training programme adequately prepares them for the future clinical practice using genomic medicine and personalised medicine, respectively. Barriers identified include the need for greater trainee education (95%), inadequate clinical guidance to base interventions on the results of genomic testing (53%), concerns over misinterpretation by patients (43%) and overuse/misuse of testing by clinicians (34%). Survey respondents felt prepared to perform HFE genotyping (98%), assess TPMT status (97%) and interpret HLA subtyping for suspected coeliac disease (85%). However, only a minority felt prepared to perform the following investigations: polyposis screening (34%), hereditary pancreatitis screening (30%), testing for Lynch yndrome (33%) and KRAS testing for colorectal cancer (20%). Most respondents would support holding dedicated training days on genomic medicine (83%), formal training provisions for the mainstreaming of genomic testing (64%), an update to the UK gastroenterology specialty training curriculum and examinations (57%) and better-defined referral pathways for local genomic services (91%). // Conclusion: Most gastroenterology trainees in this survey feel ill equipped to practise genomic and personalised medicine as consultants. We propose specific revisions to the UK gastroenterology specialty curriculum that addresses trainees needs