Harper's practical genetic counselling / Angus Clarke.

Format:

Book

Author/Creator:

Clarke, Angus, 1954- author.

Language:

English

Subjects (All):

Genetic counseling.

Genetic Counseling--methods.

Genetic Techniques.

Medical Subjects:

Genetic Counseling--methods.

Genetic Techniques.

Physical Description:

1 online resource (543 pages)

Edition:

Eighth edition.

Place of Publication:

Boca Raton, FL : CRC Press, 2020.

Summary:

Highly valued across the world by genetic counsellors, medical geneticists and other healthcare professionals, Harper's Practical Genetic Counselling has established itself over previous editions as the essential guide to counselling those at risk from inherited disorders. Fully revised by its new author Angus Clarke, and with additional input from colleagues, this eighth edition provides indispensable and up-to-date guidance, helping readers to navigate the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns. Maintaining the trusted framework of earlier editions, the update presents the latest information on the use and interpretation of genetic test results, including new genome-based investigations and their application in the genetic counselling process. This book will help both the student and the practitioner, as genetic and genomic investigations become progressively more relevant to all healthcare professionals with the mainstreaming of genetics across the full range of medical practice. Key features: Provides the very latest information in a tried and tested format for speedy access in the busy consulting room or clinic Includes new and expanded chapters on laboratory genetic investigation, gene-based "rational" approaches to treatment, population genetic screening and the use of cell-free DNA in prenatal genetic testing, reflecting the rapid development of knowledge in these areas Delivers clear and authoritative advice, applicable to everyday clinical practice The eighth edition of this best-selling text will continue to be an essential source of reference for trainee and practitioner genetic counsellors and medical geneticists, for clinicians and nurses working in mainstream specialties who increasingly are dealing with the genetic aspects of disease, and for practitioners working in settings where referral to a genetics specialist is not readily available. It also provides invaluable background for other health care professionals, counsellors, social scientists, ethicists and genetics laboratory staff.

Contents:

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 Investigations. 6. Dysmorphology and Genetic Syndromes. 7. Carrier Testing. 8. Predictive Genetic Testing. 9. Prenatal Diagnosis, Antenatal Screening and Reproductive Aspects of Medical Genetics. 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. 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: Practical Genetic Counselling - The Life Story of a Book.

Notes:

Incldudes index.

Includes bibliographical references and index.

Description based on print version record.

ISBN:

9781000713008

1000713008

9781000712629

1000712621

9780367371944

0367371944

OCLC:

1122565187

Publisher Number:

9780367371944