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
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
Dr. Shweta Dhar is the Director for the Adult Clinical Genetics Services at Baylor College of Medicine, Houston, TX and the Section Chief of Genetic Medicine at the Michel E. Debakey VA Medical Center. She is boarded 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 Track 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. The service provides care to more than 2,000 general adult and cancer genetics patients each year.
Nagamani, Sandesh Sreenath Chakravarthy
Sandesh Nagamani is a clinical geneticist practicing at the Adult Genetics Clinics at Baylor College of Medicine and is also trained in Internal Medicine and Genetics. He is the Director of Clinical Research and Director of the Clinical Translational Core for the NIH IDDRC at Baylor College of Medicine and is well versed in clinical and research applications of adult genetics. He also runs a Bone Disorders clinic for adults at BCM.
Tanya Eble is a certified genetic counsellor with over 10 years' experience in adult genetics and is the clinical manager for the service. In addition, she has several years' experience practicing in prenatal genetics. She is also a member of the Executive Board for the Masters of Science Genetic Counselling program currently under development at Baylor College of Medicine.