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
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SECTION I. THE PRACTICE OF ADULT GENETICS 1. Introduction to the field of Adult Genetics 2. Basic Genetic Concepts 3. Evaluation of an Adult patient with a suspected genetic disorder 4. Counseling the adult patient with a genetic disorder 5. Genetic testing in adults
SECTION II: GENETIC DISORDERS IN ADULTS 6. Adults with developmental disabilities 7. Cardiovascular genetic disorders in Adults 8. Gastrointestinal disorders with a genetic basis 9. Neurogenetic disorders in adults 10. Pulmonary disorders with a genetic basis 11. Hereditary connective tissue disorders 12. Endocrine disorders and genetics 13. Renal disorders with a genetic basis 14. Genetic disorders that impact reproduction 15. Cancer Genetics 16. Hematological disorders 17. Metabolic disorders 18. Disorders of bone in adults 19. Psychiatric disorders with a genetic basis 20. Immunogenetics 21. Dermatogenetics 22. Mitochondrial disorders 23. Transition of care for children with genetic disorders growing into adulthood 24. Preconception and prenatal genetics
SECTION III: ACCESS TO GENETIC SERVICES 25. Billing and reimbursement in adult genetics 26. Telegenetics and other care models in adult genetics 27. ELSI
SECTION IV: FUTURE DIRECTIONS 28. Complex Inheritance and Precision Medicine 29. Pharmacogenomics 30. Gene Therapy/Gene Editing
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.
Nagamani, Sandesh Sreenath Chakravarthy
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.
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.