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
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