Handbook of Clinical Adult Genetics and Genomics
A Practice-Based Approach
- 1st Edition - April 13, 2020
- Latest edition
- Editors: Shweta Dhar, Sandesh Sreenath Chakravarthy Nagamani, Tanya Eble
- Language: English
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
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.
- 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
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)
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
- Edition: 1
- Latest edition
- Published: April 13, 2020
- Language: English
SD
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, TXSN
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 MedicineTE
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 MedicineRead Handbook of Clinical Adult Genetics and Genomics on ScienceDirect