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    1. Medicin
    2. Medicin: allmänt
    3. Samhällsmedicin och preventiv medicin

    Harper's Practical Genetic Counselling

    A Practical Manual for Genetic Health Professionals

    AvAngus Clarke,Sofia Douzgou Houge

    Häftad, Engelska, 2027

    947 kr

    Slutsåld

    Beskrivning

    Designed to empower healthcare professionals in counselling those at risk from inherited disorders, this highly valued guide delivers practical, patient-centred genetic care trusted worldwide by genetic counsellors, medical geneticists, and clinicians working in both specialist and resource-limited settings.Equipping you with the clinical knowledge and communication skills needed to navigate genetic counselling scenarios confidently, this ninth edition is organized into four comprehensive parts covering general principles of genetics and genetic counselling, organ system-specific genetic disorders, cancer genetics, and broader societal contexts. Readers’ gain practical guidance on Mendelian disorders, chromosome abnormalities, dysmorphology, prenatal diagnosis, predictive testing, and carrier screening, alongside essential insights into patient communication and the emotional challenges faced by families. This new edition has expanded content on genome sequencing and variant interpretation, enhanced coverage of cultural issues around ethnicity and gender, updated material reflecting current genomic technologies, and clear, authoritative advice in a tried and tested format for speedy access in the busy consulting room or clinic.Essential for trainee and practitioner genetic counsellors and medical geneticists; clinicians and nurses working in mainstream specialties who increasingly deal with the genetic aspects of disease; and other healthcare professionals, counsellors, social scientists, ethicists, and genetics laboratory staff who encounter genetic questions in their work.

    Produktinformation

    • Utgivningsdatum:2027-02-17
    • Mått:178 x 254 x undefined mm
    • Vikt:453 g
    • Format:Häftad
    • Språk:Engelska
    • Antal sidor:530
    • Upplaga:9
    • Förlag:Taylor & Francis Ltd
    • ISBN:9781032350363

    Utforska kategorier

    • Samhällsmedicin och preventiv medicin inom Medicin
    • Reproduktionsmedicin inom Medicin
    • Medicinsk genetik inom Medicin

    Mer om författaren

    Angus Clarke, Clinical Professor, Division of Cancer & Genetics, School of Medicine, University of Cardiff, and Honorary Consultant, All Wales Medical Genetics Service.Sofia Douzgou Houge, MD, PhD, FRCP. Senior Consultant in Medical Genetics at Haukeland University Hospital.Marc Tischkowitz, Professor and Honorary NHS Consultant, Medical Genetics, University of Cambridge.

    Innehållsförteckning

    • PART 1: General Aspects of Genetics and Genetic Counselling. 1. Genetics and Genetic Counselling: An Introduction. 2. Genetic Counselling in Mendelian Disorders. 3. Common Disorders and Genetic Counselling. 4. Chromosome Abnormalities. 5. Genetic and Genomic Laboratory Investigations. 6. Dysmorphology and Genetic Syndromes. 7. Carrier Status and Genetic Counselling 8. Counselling for Predictive Genetic Testing. 9. PrenatalScreening and Prenatal Diagnosis. 10. Special Issues in Genetic Counselling. 11. Clinical Genetics Services. 12. Treatments and Trials for Genetic Disease. PART 2: Genetic Counselling: Specific Organ Systems. 13. Neuromuscular Disorders. 14. Central Nervous System: Paediatric and Neurodevelopmental Disorders including Intellectual Disability 15. Central Nervous System: Adult-Onset and Psychiatric Disorders. 16. Disorders of Bone and Connective Tissue. 17. Oral and Craniofacial Disorders.18. The Skin. 19. The Eye. 20. Deafness. 21. Cardiac and Cardiovascular Disorders. 22. Respiratory Disorders. 23. The Gastrointestinal Tract. 24. Renal and Urinary Tract Diseases. 25. Endocrine and Reproductive Disorders. 26. Inborn Errors of Metabolism. 27 Disorders of Blood and Immune Function. 28. Environmental Hazards. PART 3: Genetic Counselling and Testing for Cancer. 29. Cancer as a Genetic Disorder. 30. Colorectal Cancer Syndromes. 31. Breast and Ovarian Cancer. 32. Rare Mendelian Cancer Syndromes and Other Cancers. PART 4: Genetic Counselling in Context: The Broader Picture. 33. Communication in Genetic Councelling. 34. Population Aspects of Genetic Counselling and Genetic Screening. 35. Genetics, Society and the Future. Glossary. Appendix 1: Further Reading and Information. Appendix 2: Assessing the performance of a screening test. Appendix 3: Practical Genetic Counselling - The Life Story of a Book(by Peter Harper, 2019).