Genetics in Practice : A Clinical Approach for Health Care Practitioners

Nurses are increasingly being asked to provide information when a genetic diagnosis is made, whether to the individual patient or to members of his or her family. This book provides a comprehensive introduction to present day genetic services, to help professionals feel more confident when dealing with queries or advising where to go for further information.Comprehensive case studies are used to explain the various models of inheritance and explore the possibilities for families, following genetic diagnosis. Family history-taking, risk assessment, basic biology of chromosomes and genes, and laboratory techniques are all described. Issues of ethnicity and ethics are addressed. The book also discusses the development of the role of the genetic nurse counselor.

List of Contributors. Preface. Introduction. 1. The scientific and clinical discoveries which are used to provide current patient care (Peter Farndon). 2. The Family History (Jo Haydon). 3. Basic Biology (Tessa Webb and Jo Haydon). 4. Laboratory Techniques (Eileen Roberts and Sarah Warburton). 5. Risk Perception and Options Available (Jo Haydon). 6. Chromosome Disorders (Jo Haydon). 7. Autosomal Dominant Disorders - 50% Risk to Offspring (Jo Haydon). 8. Autosomal Recessive Disorders - Unaffected Parents with 25% Risk to Offspring (Jo Haydon). 9. X-linked Recessive Disorders - Carrier Mothers, Affected Sons (Jo Haydon). 10. Multifactorial Inheritance - Interaction of genes and environment (Jo Haydon). 11. Mitochondrial Disorders - Inherited from mother by males and females (Jo Haydon). 12. Cancer Genetics (Lucy Burgess). 13. Ethnicity (Jo Haydon). 14. Ethical Issues (Amanda Barry). 15. Professional Development (Jo Haydon and Amanda Barry). 16. The Future (Peter Farndon). Glossary. Useful websites. Subject Index.