Personalised Health Care: Fostering Precision Medicine Advancements for Gaining Population Health Impact (SpringerBriefs in Public Health)

Practitioners are increasingly adopting a personalised medicine approach to individually tailored patient care, especially disease diagnosis and treatment with the use of biomarkers. However, development and implementation of such approaches to chronic disease prevention need further investigation and concerted efforts for proper use in healthcare systems. This book provides high-quality, multidisciplinary knowledge from research in personalised medicine, specifically personalised prevention of chronic disease. It addresses different perspectives of prevention in the field, and is the outcome of a four-year work of the Personalized prevention of Chronic Disease (PRECeDI) Consortium, a multi-disciplinary and multi-professional team of experts. The Consortium jointly agreed to document and address the five aspects or domains of personalised medicine and prevention as individual chapters: * Identification of biomarkers for the prevention of chronic disease * Evaluation of predictive genomic applications * Ethico-legal and policy issues surrounding personalised medicine * Roles and responsibilities of stakeholders in informing healthy individuals on their genome: a sociotechnical analysis * Identification of organisational models for the provision of predictive genomic applications The book focuses on the Consortium's recommendations that are derived from each of these domains based on up-to-date evidence and research that the authors write, follow, and systematically organise and report. Personalisation of health care is, eventually, a driver of innovation in research and healthcare systems. With this __SpringerBrief__ on __Personalised Health Care: Fostering Precision Medicine Advancements for Gaining Population Health Impact__, the Consortium provides further evidence of the clinical validity and utility of personalised medicine with special emphasis on the prevention of chronic diseases. The book is a useful resource for policy makers, industry and healthcare professionals, scientists, technology-sector professionals, investors, citizens, and private companies that need proper advice to realise the potential of personalised medicine. Acknowledgements 5 List of Abbreviations 6 Contents 8 About the Editors 11 Contributors 14 Chapter 1: Introductions 17 References 24 Chapter 2: Identification of Biomarkers for the Prevention of Chronic Disease 25 2.1 Identification of Novel Biomarkers for Primary and Secondary Prevention of Diabetes in the –Omics Era 25 Genomics 27 Transcriptomics 28 Epigenomics 28 Metabolomics 29 Conclusions 30 2.2 The Prognostic Role of Micro-RNAs in Head and Neck Cancers: An Umbrella Review 30 Methods 31 Results 32 Discussion and Conclusion 37 2.3 Application of Single-Nucleotide Polymorphism-Related Risk Estimates in Identification of Increased Genetic Susceptibility to Non-communicable Diseases 38 Risk for the Development of Thrombosis 39 Risk for the Development of Hypertension 41 Risk for the Development of Type 2 Diabetes Mellitus 41 Risk for the Development of Atherosclerosis (Reduced HDL-C Level) 41 2.4 Polygenic Risk Score for Data-Driven Health Care in the Big Data Age 42 The UK Biobank 42 Polygenic Risk Score 43 New Challenges in Preventive Medicine 44 Market Needs 45 References 46 Chapter 3: Evaluation of Predictive Genomic Applications 49 3.1 The Health Technology Assessment Approach for the Evaluation of Genetic/Genomic Applications 49 Introduction 49 The ACCE Model 50 The HTA Model 51 The Need of a More Comprehensive Evaluation Framework? 51 3.2 The Economic Evaluation of Genomic Applications 55 Economic Evaluation in Healthcare 55 Cost-Effectiveness Analysis and Health Programmes Involving Genomic Applications 56 The Dual Purpose of Cost-Effectiveness Analysis in Genomics 57 When Do We Perform a Cost-Effectiveness Analysis? 58 Case Studies of Cost-Effective Genomic Health Programmes Ready to be Implemented in Clinical and Public Health Practice 61 Genomic Health Programmes for BRCA-Related Cancers 62 Genomic Health Programmes for Lynch Syndrome 62 Genomic Health Programmes for Familial Hypercholesterolaemia 63 3.3 Genomics Training Needs of Public Health Professionals 63 Genomic Science and Public Health 63 Genomics, Public Health Functions, Public Health Services 65 Competence of Public Health Professionals in Genomics 65 References 69 Chapter 4: Ethico-legal and Policy Issues Surrounding Personalised Medicine 72 4.1 Ethical Issues in Personalised Medicine: A Survey and the Path Ahead 72 The Personalised Medicine Revolution 73 Ethical Issues in Personalised Medicine 74 Research/Care Divide 74 Return of Results 75 Privacy 76 The Path Ahead 76 4.2 Policy Issues of Genomics in Healthcare: A Focus on Training Needs for Healthcare Professionals 77 Policy Issues in Genomics 77 Genomics Educational Issues and Challenges 78 Training Initiatives in Genomics 79 Strategies for Integrating Genomic Science into Medical Curriculum 81 4.3 Policy Issues of Genomics in Healthcare: A Focus on Citizen Expectations and Behaviours 83 Policy Issues in Genomics: The Current Landscape for Direct-To-Consumer Genetic Tests 83 Potential Benefits and Risks of Direct-To-Consumer Genetic Tests 84 Oversight and Regulation 86 Conclusions 88 References 88 Chapter 5: Roles and Responsibilities of Stakeholders in Informing Healthy Individuals on Their Genome: A Sociotechnical Analysis 92 5.1 Responsible Translation of Innovations in the Context of Screening of Healthy Adults 92 Background 92 Prioritisation of Innovations to Use Resources for Achieving High Value 94 A Theoretical Framework for a Sociotechnical Analysis 95 Attuning All Actors in a Transition Process 95 Understanding Change Processes: The Transition Management Perspective 96 5.2 Examples of Informing Family Members of Cardiovascular Diseases and Hereditary Cancers 98 Finding Index Cases and Informing Family Members Require Different Ways of Doing, Thinking and Organising 98 Lynch Syndrome 100 Successful Strategies 102 Familial Hypercholesterolaemia 102 Case Finding in Primary Care 102 Informing Family Members 104 5.3 Discussion 106 References 107 Chapter 6: Identification of Organisational Models for the Provision of Predictive Genomic Applications 110 6.1 Delivery Models for Genetic/Genomic Applications 110 Current Organisations of Genetic Services 111 Barriers to the Appropriate Implementation of Genetic Discoveries 117 6.2 Barriers and Facilitating Factors for Implementation of Genetic Services 118 Breast Cancer in Predictive Genomic Applications 118 Barriers: New Stakeholders Facing Old Questions 119 Health Technology Assessment 120 Translational Research 120 Facilitators: The Angelina Jolie Effect and Clear Evidence 120 Learning from Examples 121 6.3 Designing Systems that Integrate Genomic Information to Deliver Personalised Care 122 The Role of Triple Value Healthcare 122 Personal Value: Value at the Level of the Patient 122 Technical Value: Value at the Level of the Intervention 123 Allocative Value: Value at the Level of the Population 123 Delivering Triple Value Through Healthcare Systems 123 Designing Systems that Integrate Genomic Information to Deliver Personalised Care 125 Conclusions 126 6.4 Clinical Decision Support Tools to Assist Physicians in the Screening of Genetic Diseases 126 In the Search of Genetic-Associated Health Risks 126 Assessing Potential Genetic Risk: Evidence-Based Scorings 127 Clinical Decision Support for Genetic Risk Scoring 128 From a Practitioner-Based Model to a Public Health Approach 129 References 129 Index 132 Front Matter ....Pages i-xix Introductions (Stefania Boccia)....Pages 1-8 Identification of Biomarkers for the Prevention of Chronic Disease (Stefania Boccia, Jun Liu, Ayşe Demirkan, Cornelia van Duijn, Marco Mariani, Carolina Castagna et al.)....Pages 9-32 Evaluation of Predictive Genomic Applications (Paolo Villari, Erica Pitini, Elvira D’Andrea, Annalisa Rosso)....Pages 33-55 Ethico-legal and Policy Issues Surrounding Personalised Medicine (Roberta Pastorino, Michael Lang, Ma’n H. Zawati, Giovanna Elisa Calabrò, Ilda Hoxhaj, Elisa J. F. Houwink et al.)....Pages 57-76 Roles and Responsibilities of Stakeholders in Informing Healthy Individuals on Their Genome: A Sociotechnical Analysis (Martina C. Cornel, Tessel Rigter, Carla G. van El)....Pages 77-94 Identification of Organisational Models for the Provision of Predictive Genomic Applications (Corrado De Vito, Brigid Unim, Martina C. Cornel, Anant Jani, Muir Gray, Jim Roldan)....Pages 95-116 Back Matter ....Pages 117-120