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Managing Health in the Genomic Era. A Guide to Family Health History and Disease Risk

  • Book

  • June 2020
  • Elsevier Science and Technology
  • ID: 4753567

In Managing Health in the Genomic Era: A Guide to Family Health History and Disease Risk, Drs. Vincent C. Henrich, Lori A. Orlando, and Brian H. Shirts discuss the practical considerations surrounding the use of genomic and genetic tests to manage patient health, to provide adult disease risk assessment, to improve diagnosis, and to support effective interventions and treatment. In 10 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 analyzing 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 that 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.

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Table of Contents

1. The growing medical relevance and value of family health history2. Family health history's place in genomic medicine3. The connection between genetic variation,family health history, and disease risk4. Family-specific genetic variants: Principles, detection, and clinical interpretation5. Genes and cancer: Implications for FHH analysis6. Using family health history to identify and reduce modifiable disease risks7. Technology for family health history and collection and analysis8. Family health history and genetic counseling9. Current and future trends in diagnostics and treatment10. Current and future trends to integrate family health history with clinical programs to improve population health

Authors

Vincent Henrich Professor Emeritus, Former Director of the Center for Biotechnology, Genomics, and Health Research, University of North Carolina, Greensboro, USA. 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. Lori A. Orlando Director, Program in Precision Medicine, Center for Applied Genomics and Precision Medicine, Duke University, 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. Brian H. Shirts Associate Professor, Department of Laboratory Medicine and Pathology, Associate Director of Genetics and Solid Tumors Laboratory, University of Washington, 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.