Genetics in PracticeA Clinical Approach for Healthcare 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.
"This useful and relatively brief volume clearly sets out to inform, guide and trouble-shoot genetic services in current UK health-care … .A must for all working in specialities where genetic issues are relevant." (Journal of Community Nursing, January 2009) "Health care professionals and especially those studying for a career in genetics will find this book a welcome addition to available texts." (Journal of Tropical Pediactrics, December 2008)
Jo Haydon, Genetic Associate, Birmingham Women’s Hospital, UK
Continuing advances in genetic science mean that healthcare professionals are increasingly required to apply genetics to their clinical practice in order to provide a high standard of patient care. Genetics in Practice aims to dispel some of the mystique surrounding the subject to enable healthcare professionals to recognise its relevance to their everyday clinical practice. A family-oriented approach is used throughout to demonstrate the potential impact of a genetic disorder on both the individual and his/her family and includes genetic conditions diagnosed throughout the lifespan, from pre-birth to adulthood. This comprehensive book includes: Case scenarios – used throughout to demonstrate the application of theoretical principles to clinical practice Practical skills – recording a family history and an introduction to risk assessment Science – basic biology and laboratory techniques to underpin understanding of the use of genetic tests in present day practice Cancer – detailed account of this rapidly developing area of genetics Ethnicity – highlighting issues of importance for a multi-racial population Ethical and social aspects – principles governing ethical, legal and social implications of having genetic information for both practitioners and the families Points for reflection – suggested for each chapter to stimulate further thoughts Evidence-based – the book is referenced throughout with suggestions for further reading and useful websites Glossary – definitions of common genetic terms Genetics in Practice is an invaluable genetics textbook for healthcare professionals and will be equally useful as a learning resource for genetic counsellors. It is suitable for both students and qualified staff wishing to meet the challenge of incorporating this new and exciting field into clinical practice.
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