Handbook of Clinical Adult Genetics and Genomics
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Handbook of Clinical Adult Genetics and Genomics

A Practice-Based Approach

1st Edition - April 10, 2020

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  • Editors: Shweta Dhar, Sandesh Sreenath Nagamani, Tanya Eble
  • Paperback ISBN: 9780128173442
  • eBook ISBN: 9780128173459

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Description

Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more.

Key Features

  • Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders
  • Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics
  • Features chapter contributions from authors at leading adult genetics institutions in the US and abroad

Readership

Active researchers, basic and translational scientists, clinicians, postgraduates, and students in the areas of genetics, human genomics, pathology and bioinformatics; medical students, pediatricians; internal medicine physicians and residents; genetic counselors and genetic counseling students; clinical and laboratory genetics trainees (residents and fellows); physicians and trainees of other sub-specialties (pathology, gastroenterology, oncology, endocrinology, neurology, psychiatry, immunology, hematology, rheumatology, nephrology, pulmonology, dermatology)

Table of Contents

  • Section I The Practice of Adult Genetics

    1. Introduction to the practice of adult genetics

    SHWETA U. DHAR

    2. Basic concepts of genetics and genomics

    JENNIFER E. POSEY

    3. Genetic evaluation of an adult

    AERON M. SMALL, MONICA GIOVANNI AND MICHAEL F. MURRAY

    4. Genetic counseling for adults

    TANYA N. EBLE, WENDY R. UHLMANN AND LAUREN E. HIPP

    5. Genetic testing in adults

    SANDESH C.S. NAGAMANI AND JILL A. ROSENFELD

    6. Transitioning to adult care

    JOHN CHRISTOPHER BERENS, MARIA BLAZO AND CYNTHIA PEACOCK

    7. Preconception and prenatal care

    SANDRA DARILEK, SARAH HUGUENARD AND IGNATIA B. VAN DEN VEYVER

    Section II Genetic disorders in adults

    8. Cancer syndromes

    SHWETA U. DHAR AND HUMA RANA

    9. Cardiac disorders

    JEFFREY ADDISON, LUISA MESTRONI AND MATTHEW R.G. TAYLOR

    10. Hereditary connective tissue disorders

    DAVID R. MURDOCK, HARRY C. DIETZ III AND GRETCHEN MACCARRICK

    11. Disorders that impact reproduction

    J. SCOTT GABRIELSEN AND DOLORES J. LAMB

    12. Endocrine disorders

    DINA WINOGRAD, AVNI MODY, ASHOK BALASUBRAMANYAM AND

    SUSAN L. SAMSON

    13. Gastrointestinal disorders

    JENNIFER WEISS, ANNA ZAKAS AND JESSICA HAUSE

    14. Hematological disorders

    SARVARI YELLAPRAGADA AND KATIE LEE BERGSTROM

    15. Immunologic disorders

    WOJCIECH WISZNIEWSKI

    16. Intellectual and developmental disabilities

    JAIME VENGOECHEA AND AIXA GONZALEZ GARCIA

    17. Metabolic disorders

    LINDSAY BURRAGE AND RONIT MAROM

    18. Mitochondrial disorders

    JAYA GANESH AND FERNANDO SCAGLIA

    19. Neurologic disorders

    FUKI M. HISAMA AND THOMAS D. BIRD

    20. Pulmonary disorders

    SHWETA U. DHAR AND SANDESH C.S. NAGAMANI

    21. Psychiatric disorder

    MEGAN E. TUCKER

    22. Renal disorders

    MIR REZA BEKHEIRNIA AND NASIM BEKHEIRNIA

    23. Skeletal disorders

    SANDESH C.S. NAGAMANI AND BRENDAN LEE

    24. Skin disorders

    KRYSTAL M. JONES AND MOISE L. LEVY

    Section III Access to Genetic Services

    25. Billing and reimbursement

    DAVID FLANNERY AND ADNAN ALSADAH

    26. Telegenetics and other care models

    EDWARD D. ESPLIN, RUTH K. ABRAMSON AND DAVID FLANNERY

    27. Ethical, Legal, and Social Implications

    CHRISTI J. GUERRINI, AMY L. MCGUIRE AND GABRIEL LAZARO-MUNOZ

    Section IV Future Directions

    28. Precision medicine in the genomic era

    TREVOR D. HADLEY AND SANDESH C.S. NAGAMANI

    29. Pharmacogenomics

    LILEI ZHANG AND KEVIN E. GLINTON

    30. Gene therapy and gene editing

    NICOLA BRUNETTI-PIERRI

Product details

  • No. of pages: 534
  • Language: English
  • Copyright: © Academic Press 2020
  • Published: April 10, 2020
  • Imprint: Academic Press
  • Paperback ISBN: 9780128173442
  • eBook ISBN: 9780128173459

About the Editors

Shweta Dhar

Shweta U. Dhar is an Associate Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine (BCM), Houston, TX, USA. Dr. Dhar is the Director of the Adult Clinical Genetics Services at BCM and the Section Chief of Genetic Medicine at the Michael E. Debakey VA Medical Center as well as the VISN16 Lead for Genomic Medicine . She is a board-certified physician in Internal Medicine and Clinical Genetics. As the course Director for Genetics for 1st and 2nd year medical students and a Director for the only Genetics & Genomics Pathway at a US medical school, she has had a significant role in shaping medical education and reform at BCM. The clinical adult genetics practice at BCM is one of the largest adult genetics services in the nation and spans three different health care systems including an academic private practice, a county health system, and the VA medical center.

Affiliations and Expertise

Director, Adult Clinical Genetics Services at Baylor College of Medicine, Houston, TX and Section Chief of Genetic Medicine, Michael E. DeBakey VA Medical Center, Houston, TX

Sandesh Sreenath Nagamani

Sandesh C.S. Nagamani is an Associate Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine (BCM), Houston, TX, USA. Dr. Nagamani is a board certified internist and clinical geneticist. He is the Director of the Clinical Research Division of the Department of Molecular and Human Genetics and the Director of the Clinical Translational Core for the NIH Intellectual and Developmental Disabilities Research Center at BCM and is well versed in clinical and research applications of adult genetics. He has many leadership roles in two consortia of the NIH Rare Disease Clinical Research Network, the Urea Cycle Disorders Consortium and the Brittle Bone Disorders Consortium. As the PI of the career enhancement cores for these two consortia, he is actively involved in the education of trainees, physicians, and health care providers about genetic disorders.

Affiliations and Expertise

Clinical Geneticist, Adult Genetics Clinics at Baylor College of Medicine

Tanya Eble

Tanya N. Eble is an Assistant Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine (BCM), Houston, TX, USA. She is a board-certified genetic counselor with over 15 years of clinical experience. Ms. Eble is the clinical manager for the adult genetics services at BCM and has had an integral role in developing the adult genetics clinics in three health care systems including an academic private practice, a county health system, and the VA medical center. In addition, she has several years of experience practicing in prenatal genetics. As a member of the Executive Committee and a course director for the Masters of Science in Genetic Counseling Program at BCM, she has a significant role in the education of students of genetic counseling.

Affiliations and Expertise

Executive Board, Masters of Science Genetic Counselling Program, Baylor College of Medicine

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