Personalised Health Care: Fostering Precision Medicine Advancements for Gaining Population Health Impact

ISBN-13: 9783030523985 / Angielski / Miękka / 2020 / 120 str.

Stefania Boccia; R?za ?d?ny; Paolo Villari

Spis treści

Introduction (Boccia) 

1. Chapter 1: Identification of biomarkers for the prevention of chronic disease (Editors: Adany, Boccia). 

1.1 Van Duijn (Identification of biomarkers for primary and secondary prevention - Liu)

1.2 Boccia (Identification of biomarkers for tertiary prevention - Mariani, Giraldi, Pastorino)

1.3 Adany (Application of Single-Nucleotide Polymorphism-Related Risk Estimates in Identification of Increased Genetic Susceptibility to Specific Diseases)

1.4 Giordano Bottà - Allelica (Non Academic Vision)

 

Recommendation 1

Personalised interventions for the prevention of chronic diseases require robust evidence of efficacy and/or effectiveness of the new technology when implemented in health care.

2. Chapter 2: Evaluation of predictive genomic applications (Editor: Villari) 

2.1 The economic evaluation of genetic/genomic applications (D’Andrea)

2.2 The HTA approach for the evaluation of genetic/genomic applications (Pitini)

2.3 Training needs in genomics of Public Health Professionals (Rosso)

 

Recommendation 2

A comprehensive evaluation of the value (outcomes/cost) of the new technology should also include evidence on the social aspects, and context-related dimensions to better support the clinical decision-making process. Genetic or genomic applications with evidence of efficacy, effectiveness, and cost-effectiveness should be implemented in clinical and public health practice.

3. Chapter 3: Ethico-legal and policy issues surrounding personalised medicine (Editor: Sandor) 

3.1 Zawati (Ethical issue) 

3.2 Calabro, Hoxaij, Boccia (Policy issue, with a focus on training in genomics for healthcare professionals)

3.3 Calabro, Sassano, Boccia (Policy issue, with a focus on citizens and DTC)

3.4 Sandor (Legal issue)

 

Recommendation 3

The era of genomics requires that we clarify and validate the obligations and responsibilities of the research community, research participants, and the general public including patients through collaboration and dissemination of high-quality ethical, policy, and legal analysis.

4. Chapter 4: Roles and responsibilities of stakeholders in informing healthy individuals on their genome: a sociotechnical analysis (Editor: Cornel)

(Martina Cornel, Tessel Rigter, and Carla van El)

4.1 Responsible translation of new genomic technologies in the context of screening of healthy adults

4.2 Examples from hereditary cardiovascular diseases and hereditary cancers

Recommendation 4 

A dedicated effort is necessary to stimulate further implementation of evidence-based interventions in health care, such as testing of family members in cases of hereditary cancers or cardiovascular diseases.

 

5. Chapter 5: Identification of organizational models for the provision of predictive genomic applications (Editor: De Vito)

5.1 De Vito/Unim (Delivery models for genetic/genomic applications)

5.2 Cornel (Barriers and Facilitating Factors for Implementation of Genetic Services)

5.3 Gray/Jani (Design systems that integrate genomic information to deliver personalised care)

5.4 Roldan (Clinical decision support tool to assist physicians in the screening of genetic diseases)

Recommendation 5 

The integration of genomic sciences in other medical specialties should be promoted through new delivery models involving different healthcare professionals and new professional roles, in order to guarantee the use and sustainability of existing and new genomic applications in practice.

Each Chapter is approximately 25 pages 

O autorze

Stefania Boccia, PhD, DSc, MS, is Full professor of Hygiene, Preventive Medicine and Public Health at Università Cattolica del Sacro Cuore (UCSC) in Rome, Italy. She is the Director of the Section of Hygiene of the Department of Health Science and Public Health of UCSC and President of the Public Health Epidemiology Section of European Public Health Association (EUPHA). A Biologist by training and Specialist in Clinical Pathology, she obtained a Master of Science in Epidemiology and Biostatistics and a Doctor of Science and PhD in Genetic Epidemiology at the Erasmus MC in Rotterdam, the Netherlands. From 2016 to 2018 she was Adjunct Professor at Mount Sinai Medical School in New York, NY, USA. In 2018 she founded the spin-off “Vihtali srl” (Value In Health Technology and Academy for Leadership & Innovation) at UCSC. She currently coordinates the project titled “European network staff eXchange for integrAting precision health in the health Care sysTems” (ExACT) funded by the European Commission (EC) within the H2020 Marie-Slodowska Curie projects (MSCA-RISE). She is currently partner of several EU-funded projects; among them is  “Integrating China in the International Consortium for Personalised Medicine” (IC2PerMed, CSA) as a member of the Coordinating group. She is author and co-author of 216 scientific publications; her h-index (Scopus) is 37 and citation count is 5350.

Róza Ádány, MD, PhD, DSc, is a medical doctor with specialization in the field of preventive medicine and public health. She is Professor of public health at the University of Debrecen, Hungary; founding Dean of the Faculty of Public Health; leader of the Public Health Research Group funded by the Hungarian Academy of Sciences; head of the WHO Collaborating Centre on Vulnerability and Health; and President of the Public Health Genomics Section of the European Public Health Association. She also acts as president of the Hungarian Association of Public Health Training and Research Institutes, chief editor of the journal ‘Népegészségügy’ (Public Health), editorial member of the European Journal of Public Health, associate editor of the Frontiers in Public Health journal, and Vice-Chair of the European Advisory Committee on Health Research for WHO European Region. She was chairperson of the Association of Schools of Public Health in the European Region (ASPHER) between 2001-2003. She contributed as expert adviser to the development of the revised version of the Health for All and the draft of the Health 2020 strategies of the WHO Europe. She is author and co-author of 237 scientific publications; her h-index (Scopus) is 33 and citation count (Scopus) is 4634. She received several prestigious Hungarian and international awards in acknowledgement of her work.

Paolo Villari, MD, MPH, is Full professor of Hygiene and, since 2015, is Director of the Department of Public Health and Infectious Diseases at Sapienza University of Rome, Italy, where he also is Member of the Academic Senate. A graduate in Medicine and Surgery and Specialist in Hygiene and Preventive Medicine, he obtained the Master’s Degree in Public Health at Harvard University. As former President of the Epidemiology Section of the European Public Health Association (EUPHA) in the years 2004-2006 and national delegate for Italy to the Federation of European Academies of Medicine (FEAM) from 2007 to 2013, he was Deputy Secretary General of the FEAM from 2010 to 2013. A member of the Scientific Committee at the Ministry of Health, Directorate General of Health Planning, from 2011 to 2013, he is currently Chairman of the National Committee for the Verification of measles and rubella elimination. He is responsible for international and national research projects, funded by the University, Ministry of Health, Ministry of University, EU in the fields of epidemiology of infectious diseases, health management and health services research. He is author and co-author of 165 publications (Scopus); his h-index (Scopus) is 32 and citation count (Scopus) is 3096.

Martina C. Cornel, MD, PhD, is professor of community genetics and public health genomics at the Amsterdam University Medical Centers, location VUMC, in the Department of Clinical Genetics, Section of Community Genetics, and the Amsterdam Public Health Research Institute, in The Netherlands. She is a physician and epidemiologist. After 2000 she mainly worked on the responsible implementation of genetic testing and screening. She is vice chair of the Netherlands patients’ umbrella organization for rare and genetic diseases (VSOP: https://vsop.nl/). She is co-chair of the Public and Professional Policy Committee of the European Society of Human Genetics. She is a member of the Netherlands Health Council and two of its standing Committees (Population Screening and Advisory Council). She is chair of the Netherlands Program Committee Neonatal Heelprick Screening. She is Editor-in-Chief of the Journal of Community Genetics. She is author and co-author of 288 publications (Scopus); her h-index (Scopus) is 37 and citation count (Web of Science Core collection) is 3891.

Corrado De Vito, MD, PhD, is an epidemiologist and Associate professor of Hygiene at the Department of Public Health and Infectious Diseases at Sapienza University of Rome, Italy. Since 2020 he is the Director of the Residency of Hygiene and Preventive Medicine of Sapienza University of Rome. Corrado De Vito graduated in Medicine and Surgery, and obtained a PhD in Infectious Diseases, Microbiology and Public Health at Sapienza University of Rome. He is principal investigator or partner of several national and international projects in the fields of vaccines and vaccination, chronic care models and public health genomics. In the latter field he is partner of the “European network staff eXchange for integrAting precision health in the health Care sysTems” (ExACT) funded by the European Commission (EC) within the H2020 Marie-Slodowska Curie projects (MSCA-RISE). He is author and co-author of 100 publications (Scopus); his h-index (Scopus) is 20 and citation count (Scopus) is 1375.

Roberta Pastorino, PhD, is a post-doc fellow at the Department of Woman and Child Health and Public Health—Public Health Area at Fondazione Policlinico Universitario A. Gemelli IRCCS in Rome, Italy. She is a Bioengineer with a PhD in Biostatistics and a Master in Genetic Epidemiology. She is Vice-President of the Public Health Genomics Section of the European Public Health Association (EUPHA) and currently Project Manager of the project titled “European network staff eXchange for integrAting precision health in the health Care sysTems” (ExACT) funded by the European Commission (EC) within the H2020 Marie-Slodowska Curie projects (MSCA-RISE). She is author and co-author of 66 scientific publications; her h-index (Scopus) is 16 and citation count is 614.

Blurb

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.