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In recent years genomic medicine has grown from a new medical science to an implementable set of clinical methods and technologies whose concrete applications are revolutionizing the health sector. However, most primary care and family health practitioners still have limited experience employing genetic and genomic approaches effectively in their daily practice.
In Managing Patient Health in the Genomic Era: Family Health History and Chronic Disease Risk, Drs. Vincent Henrich, Lori Orlando, and Brian Shirts discuss the practical considerations surrounding the use of genomic and genetic tests to manage patient health, provide adult disease risk assessment, improve diagnosis, and support effective interventions and treatment. In ten chapters, evidence-based information and case studies are described and examine the central place of family health history (FHH) in genomic medicine, tools and strategies for compiling and analysing family health history, how to identify existing and novel genetic markers, how to identify lineage specific (or rare) variants within families, and how to find effective interventions based on genetic testing results and FHH. Factors which influence clinical practice, including gene-environment interactions, FHH social networking, direct to consumer (DTC) genetic testing and data sharing, algorithms for analyzing genetic data, and patient counseling are discussed from the standpoint of clinical practice.
Here frontline healthcare providers will discover succinct commentary and key examples to assist with their local needs. Relevant principles of genetic biology and inheritance are explored and guidance on available support networks and online resources is also provided.
- Presents a practical, accessible resource for primary care providers, allied health professionals, pharmacologists, public health professionals, students and clinical researchers
- Addresses genetic and genomic approaches in managing patient health, conducting and analyzing family health histories, and assessing adult disease risk
- Features an expert author team with direct experience integrating genetics and genomics in primary care and family medicine settings
- Examines the attributes and limitations of family health history, genetic testing, and genomic testing in clinical practice
- Includes detailed explanations following practice-based examples
Clinical and translational researchers; non-geneticist physicians, in particular pediatricians, primary care providers, family medicine doctors, internists, general practitioners, obstetricians and gynecologists, oncologists; pharmacists; pharmacologists; medical students and residents in various specialties; healthcare administrators and affiliates; genetic counselors
1. Genomic Medicine Overview
Part I. FHH, Genomics, and Disease Risk
2. Family Health History’s Place in Genomic Medicine
3. FHH as a driver of genetic testing
4. FHH contextualizes genetic test results
5. FHH help to identify existing and new genetic markers
6. Lineage specific variants: principles and detection (Brian Shirts)
7. FHH, gene-environment interactions
8. Finding Effective Interventions in the Genomic era
9. Tools for FHH collection and Analysis
10. Applying algorithms, Epidemiology, Evidence-based intervention (Beth Hauser)
11. Genetic counseling: description and purpose (Adam Buchanan)
12. Closing the loop: patient followup
Part III. Primary Care in the Genomic Era
13. Prognosis for FHH-social networking for extended families, consent issues
14. Conclusion: The future: Whole genome sequencing, familial variant database, gene editing
- No. of pages:
- © Academic Press 2020
- 1st July 2020
- Academic Press
- Paperback ISBN:
Dr. Vincent Henrich is Professor Emeritus of Biology and former Director of the Center for Biotechnology, Genomics, and Health Research at University of North Carolina at Greensboro. His research interests include gene-environment interactions affecting conditions and nuclear receptor biology. Additionally, he has conducted extensive research related to the connection between family health history and genomic and genetic diagnostics, as a basis for assessing an individual’s vulnerability to serious medical conditions and diseases. Dr. Henrich and Dr. Lori Orlando collaborate on the Guilford Genomic Medicine Initiative, a project funded by the Department of Defense to implement family health history usage and appropriate genetic testing into primary care settings. His main responsibility for this project is overseeing genetic counseling and education programs for physicians and patients.
Professor Emeritus, Former Director of the Center for Biotechnology, Genomics, and Health Research, University of North Carolina, Greensboro, USA
Dr. Lori Orlando is Associate Professor of Medicine and Director of the Precision Medicine Program in the Center for Applied Genomics and Precision Medicine at Duke University. Her major research interests are decision making and patient preferences, implementation research, risk stratification for preventive health services, and decision modeling. In her work at the Center for Applied Genomics and Precision Medicine, Dr. Orlando leads the development and implementation of MeTree, a patient-facing family health history based risk assessment and clinical decision support initiative. Dr. Orlando collaborates and has published papers with Dr. Henrich related to the Guilford Genomic Medicine Initiative, where she leads the development of clinical protocols to obtain and assess family health history, implement evidence-based medical recommendations to reduce disease risk, and develop follow-up procedures that maintain patient flow.
Director, Program in Precision Medicine, Center for Applied Genomics and Precision Medicine, Duke University, USA
Brian Shirts, M.D., is an Associate Professor and Associate Director of the University of Washington, Department of Laboratory Medicine's Genetics and Solid Tumor Laboratory. Dr. Shirts’ specialty is genetic testing for hereditary cancer risk and other complex hereditary traits. His goal is to create systems that allow the highest quality genetic testing possible for all patients. Dr. Shirts earned his M.D. and Ph.D. at the University of Pittsburgh. He is board certified in both Clinical Pathology and Molecular Genetic Pathology. His clinical interests include improving strategies for detection and classification of rare mutations, as well as the clinical classification of rare genetic variants of uncertain significance. Dr. Shirts' research interests include developing communication strategies to help physicians and families learn about complex genetic information. A special interest is in family-centric personalized healthcare using genetic information.
Associate Professor, Department of Laboratory Medicine, University of Washington, USA