Handbook of Clinical Adult Genetics and Genomics

A Practice-Based Approach

1st Edition - April 10, 2020
Editors: Shweta Dhar, Sandesh Sreenath Chakravarthy Nagamani, Tanya Eble
Language: English
Paperback ISBN:
9 7 8 - 0 - 1 2 - 8 1 7 3 4 4 - 2
eBook ISBN:
9 7 8 - 0 - 1 2 - 8 1 7 3 4 5 - 9

Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populatio… Read more

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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.

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

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 Chakravarthy 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