Genomics, Populations, and Society

1st Edition - November 12, 2024
Imprint: Academic Press
Editors: Dhavendra Kumar, Ruth Chadwick
Language: English
Paperback ISBN:
9 7 8 - 0 - 3 2 3 - 9 1 7 9 9 - 5
eBook ISBN:
9 7 8 - 0 - 3 2 3 - 9 7 1 9 9 - 7

Genomics, Populations, and Society, a new volume in the Genomic and Precision Medicine in Clinical Practice series, considers the vast and thorny web of ELSI topics in genomi… Read more

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Genomics, Populations, and Society, a new volume in the Genomic and Precision Medicine in Clinical Practice series, considers the vast and thorny web of ELSI topics in genomics, from bioethics to healthcare applications, healthcare economics, genomic data management, and population dynamics. Emphasis is placed on the impact of rapid genomic advances on ethical, sociocultural and lifestyle dimensions. Healthcare and health economics topics include genomics and digital health, genome editing, and genomics and infectious disease management. Legal issues related to data ownership, equity, access, probity, consent, and confidentiality are also discussed in-depth, along with sociocultural topics such as community engagement, consanguinity, and more.Here, a range of readers from researchers to clinicians, policy administrators, lawyers, economists and social scientists will discover carefully crafted, synthesized discussions on ELSI topics in genomics to power new scientific advances and genomic medicine implementation.

Genomics, Populations, and Society
Cover image
Title page
Table of Contents
Copyright
Contributors
Quote
“Health, Economic and Societal benefits of Genomics” by Professor Dame Sue Hill
Foreword —“Genomics; the big picture” by Professor Sir John Burn
“Ethical and Societal issues of genetics and genomics” by the Late Professor Sir Peter Harper
Preface
Acknowledgments
Section I: Scientific aspects
1 From the double helix to the personal genomes
Abstract
Keywords
Acknowledgements and disclaimer
Introduction
The Watson-Crick DNA model
The genetic code
From chromosomes to DNA diagnosis
Molecular cytogenetics
Array comparative genome hybridization (aCGH) or microarray chromosome analysis (MCA)
Mendelian genetics and genomics
Diagnostic genetics and genomics
Specific gene analysis
Genome sequencing
The human genome project—The genome era
Genomics and multi-OMICS
Complex genomics
Genome-wide studies
Polygenic risk scores
Genomic medicine and healthcare
Personal genomics
Summary and conclusions
References
2 Genomic tools and techniques—An introduction
Abstract
Keywords
Introduction
Cytogenetics
Karyotype
Molecular cytogenetics
Fluorescent in situ hybridization
Chromosomal microarray
Molecular genetics
Multiplex ligation-dependant probe amplification
First-generation sequencing: Sanger sequencing
Next-generation sequencing/second-generation sequencing
Variants of uncertain significance
Applications
Molecular diagnostic applications
Clinical applications
The revolutionary role of NGS in genomic medicine
Third-generation sequencing
Artificial intelligence and raw data analytics
Genetic testing in LMICs
Conclusions
References
3 Computational genomics and bioinformatics
Abstract
Keywords
Introduction
Variant filtering and prioritization approaches for rare disease diagnostics and discovery
Future challenges
Noncoding variants
Structural variants
Disease gene discovery
More complex scenarios
Conclusions
References
4 Biobanks—Organization, operations, and role in genomics research
Abstract
Keywords
Introduction
Importance of biobanks and biospecimens to genomics research
Biobanks
Types of biobanks
Biobanking
Types of biospecimens and associated data
Steps in the biobanking process
Considerations in obtaining and using biospecimens for research
Study type
Biospecimen and data quality
Best practices and standards
ELSI issues related to biobanking
Applicable regulations, policies, and guidelines
Benefits and risks
Cultural considerations and group harms
Equity, inclusion, and diversity
Protection from research risks
Informed consent
Consent models
Ethics review
Biobank governance
Access policies and procedures
Access fees
Biospecimen utilization
Issues related to genomic research and data sharing
Return of research results
Commercial use
Ownership/custodianship
Issues related to international sharing of biospecimens and associated data
Summary and conclusions
References
Section II: Healthcare applications
5 The genomic and precision medicine in clinical practice—Current perspectives and future directions
Abstract
Keywords
Acknowledgment and disclaimer
Introduction
Genetic, genomic, and molecular revolutions in medicine
Evidence-based, precision, and personalized medicine
The stratified medicine
Integrated genomic and molecular medicine
References
6 The implementation of genomics in healthcare: The challenge of justice
Abstract
Keywords
Article
Context
Where genomics encounters questions of justice
Access to healthcare
Managing personal data
Predictive adaptive responses and human disease
Genetics and the mind
Complex causation and responsibility for health
Genomic screening and reproduction
The promise of genomics: expectations and the management of hope
Summary, conclusion, and abstract
References
7 Genomics and digital health
Abstract
Keywords
Introduction
Big data and genomics
Digital health tools, apps, and platforms
Digital tools in genomics
Digital apps
Direct-to-consumer genomics
Concerns
Digital health regulations
Data privacy and data accessibility
Additional concerns
Conclusion
References
8 Genetics, genomics, and drug prescribing
Abstract
Keywords
Introduction
Pharmacogenetics and response to drugs
Precision medicine and pharmacogenetics
Pharmacogenetics-based prescribing
Barriers and enablers toward implementation of pharmacogenetic testing in clinical practice
Conclusions
References
9 Genomics and infectious diseases: Lessons learnt from the COVID-19 pandemic
Abstract
Keywords
Emerging infectious diseases
Evolution and emergence of pathogens
The origin and spread of a new pandemic
SARS-CoV-2 and human coronaviruses
Genomics, pathogen identification, and the SARS-CoV-2 reference genome
Genomics and the COVID-19 pandemic
Role of genomics in tracking the origin and spread of COVID-19
Use of genomics in identifying and tracking new variants of SARS-CoV-2
Role of genomics in public health interventions against COVID-19
Genomics and the future of infectious disease surveillance
Pathogen detection and rapid response
Importance of genomic epidemiology and surveillance
Rapid data sharing and global collaborations
Infectious disease forecasting
Challenges and future directions
References
Section III: Socio-cultural aspects
10 Rethinking individual and community engagement with genomics in a digital world
Abstract
Keywords
Acknowledgments and disclaimer
Introduction
Engagements between genomics and society: ELSI/ELSA and responsible innovation approaches
Key dimensions in reflecting the relations between genomics and society
On the situatedness of understandings and attitudes toward genomics
Genomics as part of a wider development toward digital health
“Making up citizen-patients”: individuals and collectives
Valuing (genomic) health data from a citizen-patient perspective
Informed consent: more than a moment of (dis)agreement
Concluding reflections
References
11 Consanguinity in the genomic era—Requirement of focused counseling
Abstract
Keywords
Acknowledgment
Background
Historical perspective on inbreeding/consanguinity
Incidence/prevalence of consanguinity and socio-cultural reasons
Consanguinity and adverse health outcomes
Consanguinity and complex diseases
Consanguinity and infertility
Male infertility
Female infertility
Consanguinity and chromosomal disorders
Consanguinity and autosomal recessive disorders
Consanguinity and counseling
Genomic databases to reduce genomic divide
Genetic counseling training in genomic era
Future studies
Conclusion
References
12 Aging, genomics, and society
Abstract
Keywords
Introduction
Conceptual issues of age and aging
Practical proposal for changing the legal age
Objections against age change
Discrimination and age
Conclusion
References
Section IV: Ethical aspects
13 The environment, population health ethics, and genomics
Abstract
Keywords
Introduction
Genomics, populations and environments
The environmental determinants of health
Environmental biobanks
One Health ethics
Conclusion
References
14 The expanding scope of gen-ethics: Harmonization of genetic and environmental concerns
Abstract
Keywords
Introduction—genomics and bioethics
Issues in clinical genetics: Genetic testing and counseling
Nondirectiveness
Genetic exceptionalism
Screening
Gene therapy
The human genome project and genomics
Biobanks and sample collections
Genetic information, return of results and the right (not) to know
Personalized and precision medicine
Genomics and identity
Humans and the environment: Gene editing and epigenomics
Conclusions
References
15 Biobanks providing a trusted research environment for health data to advance collaborative research and digital transformation of health systems
Abstract
Keywords
Acknowledgments
Introduction
How to build a trusted research environment for health data
Novel technologies—New opportunities-new challenges
Conclusions
References
16 Beyond the central dogma: Ecogenomics and the implication for bioethics
Abstract
Keywords
Introduction
Epigenetics
Proteomics
Microbiomics
Thinking with microbes
Precision medicine: Biological complexity in practice
Conclusion: Interdisciplinarity and environmentality
References
Section V: Global health genomics
17 Global Globin Network (GGN)
Abstract
Keywords
Acknowledgment
Introduction and background
Global Globin 2020 challenge
The history of GG2020 challenge
The need for GG2020 challenge
Phases and milestones of GG2020 challenge
Path to GGN—The Paris declaration 2019
Global Globin Network
The milestone in the GGN
GGN member countries
Collaborators and partners
Thalassaemia International Federation
World Health Organization
United Nations Educational, Scientific, and Cultural Organization
BioGrid
The Malaysian sizing survey (MySIZE)
Global Sickle Cell Disease Network
Impact
Conferences and workshops
Trainings
Community engagement
Education and awareness program
Output-related publications, grants awarded, talent and products
Strategic partnerships (memorandum of understanding (MOU), memorandum of agreement (MOA), trainings)
Resources and funding
The way forward
Screening and prevention strategy
Education and public awareness
Collaborative research
Strategies for LMICs
References
18 Global genome databases for personalized healthcare and socioeconomic gains
Abstract
Keywords
Acknowledgments and disclaimer
Introduction
Genome databases—Structure, organization, and functioning
Genetic and genomic database systems—Scope and limitations
Spectrum of genome databases
Selected genome databases for genomic medicine and healthcare
Leiden variant database (LVD)
Database for genomic variants
Human gene mutation database
Clinical variant database (ClinVar) and clinical genetics database (ClinGen)
RNAcentral—Noncoding RNA sequence database
Human Phenotype Ontology Database (HPOD)
DECIPHER database for developmental disorders
Database for rare genetic disorders
International Cancer Genome Database
The Pharmacogenomics Knowledge Base
Utility of genome databases in healthcare
Genome laboratories in “LMICs”
Regulation of nongovernmental and commercial genome laboratories
Indigenous population genome databases
Artificial intelligence and genome databases
Conclusions—The future
References
19 Commercialization of genetic samples and information
Abstract
Keywords
Introduction: What is “commercialization” and why is it a potential problem?
Commercialization and areas of life
Variety of commercialization activities
Typology of commercialization
Ethics and commercialization
Pursuing individual or corporate success or profit: The “parachute” model
Respecting ethical norms (the “tick-box” approach)
Partnership and social purpose
Conclusions
References
20 The governance of international genomics' collaborations: Opportunities and challenges
Abstract
Keywords
Acknowledgments
Introduction: Genomics goes global
Genomics governance_ What is implied?
Organizations and policies associated with global genomic governance
Policies
Standard setting organizations in genomics
Exterritorial effect of laws and ethics review
Emerging policy trends in global governance
The right to benefit from science
Equity, diversity, and inclusion in genomics
Public private partnership
Use of AI in data governance
Conclusion
References
Glossary: Terms, phrases, and abbreviations
Index

Dhavendra Kumar

Professor Kumar has considerable previous experience in writing and editing books and journals related to genetics and genomics. His books include Genomics and Clinical Medicine and Genomics and Health in the Developing World. He founded and leads the new open access journal Applied and Translational Genomics, published by Elsevier. He has published 40 articles in the journals literature.

Professor Dhavendra Kumar is a Visiting Professor, Genomic Policy Unit, Faculty of Life Sciences and Education, The University of South Wales and Consultant in Clinical Genetics at the University Hospital of Wales, Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom. He is one of the Consultants for the All Wales Medical Genetics Service and the lead Clinician for Clinical Cardiovascular Genetics. After qualifying in Medicine from the King George’s Medical College, University of Lucknow, India, he completed postgraduate training in Pediatrics with an MD. Since 1980 he has pursued a career in Medical Genetics in the UK. In 1990 he became a Diplomate of the American Board of Medical Genetics. He is a Fellow of the American College of Medical Genetics (FACMG) and as well as Royal Colleges of Physicians (FRCP-London and FRCP-Ireland) and Pediatrics and Child Health (FRCPCH-UK).

In 2015, he was conferred with the higher degree of DSc by his Alma Mater, King George’s Medical University, Lucknow (UP, India) based on his life-time contributions and achievements to genetic and genomic applications in medicine and health.

Affiliations and expertise

Honorary Clinical Professor, William Harvey Research Institute, Queen Mary University of London, UK

Ruth Chadwick

Ruth Chadwick is Distinguished Research Professor and Director of the ESRC (Economic and Social Sciences Research Council) Centre for Economic and Social Aspects of Genomics (Cesagen), at Cardiff University, UK and Link Chair between Cardiff Law School and the School of English, Communication and Philosophy (ENCAP). Professor Chadwick has coordinated a number of projects funded by the European Commission, including the EUROSCREEN projects and co-edits the journal Bioethics and the online journal Genomics, Society and Policy. She is Chair of the Human Genome Organisation Committee on Ethics, Law and Society, and has served as a member of several policy-making and advisory bodies, including the Panel of Eminent Ethical Experts of the Food and Agriculture Organisation of the United Nations (FAO), and the UK Advisory Committee on Novel Foods and Processes (ACNFP). She was editor-in-chief of the first edition of the award winning Encyclopedia of Applied Ethics. She is an Academician of the Academy of Social Sciences and a Fellow of the Hastings Center, New York; of the Royal Society of Arts; and of the Royal Society of Medicine. In 2005 she was the winner of the World Technology Network Award for Ethics for her work on the relationship between scientific developments and ethical frameworks. She graduated with first class Honours Literae Humaniores (Philosophy and Greek and Latin Literature) from the University of Oxford, and then went on to take the B.Phil. in Philosophy. She was awarded her D.Phil. on The Ethics of Eugenics and Genetic Engineering, supervised by Jonathan Glover. She completed an LL.B. (externally) at the University of London. She held positions at the University of Liverpool, St. Martins College, Lancaster, and University of Wales, Cardiff, before taking up her post as Professor of Moral Philosophy at the University of Central Lancashire. In June 1995 she became Head of the Centre for Professional Ethics at the University, a position she still holds. She has coordinated a number of multinational and multidisciplinary research projects funded by the European Union: Ethical Implications of Human Genome Analysis for Clinical Practice in Medical Genetics, with Special Reference to Genetic Counselling (1992); EUROSCREEN: Genetic Screening--Ethical and Philosophical Perspectives (1994–1996); BIOCULT: Cultural and Social Objections to Biotechnology, with Special Reference to the View of Young People (1995); EUROSCREEN 2: Genetic Screening--Towards Community Policy on Insurance, Commercialisation and Public Awareness (1996–1999). Her publications include the four volume edited collection, Kant: Critical Assessments (1992); Ethics, Reproduction and Genetic Control (Revised Edition, 1992);and a large number of papers in learned journals. She is joint series editor of the Routledge series on Professional Ethics. Professor Chadwick is secretary of the International Association of Bioethics and a member of the HUGO Ethics committee, the National Committee for Philosophy and the British Medical Association Steering Group on Human Genetics.

Affiliations and expertise

Distinguished Research Professor and Director, ESRC (Economic and Social Sciences Research Council) Centre for Economic and Social Aspects of Genomics (Cesagen), at Cardiff University, UK

Life Sciences

Physical Sciences & Engineering

Social Sciences & Humanities

Health