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Genetics for the Health Sciences

Genetics for the Health Sciences

Genetics for the Health Sciences

A Handbook for Clinical Healthcare

  • By: Heather Skirton & Christine Patch

₹895.50 ₹995.00 Save: ₹99.50 (10%)

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ISBN: 9789386105332

Bind: Paperback

Year: 2017

Pages: 238

Size: 178 x 229 mm

Publisher: Scion Publishing Limited

Published in India by: Viva Books

Exclusive Distributors: Viva Books

Sales Territory: India, Nepal, Pakistan, Bangladesh, Sri Lanka


Genetics is vitally important in the health sciences, but its relevance on a day-to-day basis is often poorly understood. Genetics for the Health Sciences introduces the general principles of genetics and links these to real world examples, to allow nurses, midwives, genetic counselors and doctors to apply this knowledge in their routine clinical practice.

Based on their extensive experience of clinical work, the authors emphasize the practical issues related to the healthcare of individuals and families. The book takes an holistic approach, from preconception to adulthood, and addresses the false notion that clinical genetics is of relevance only to those who are planning a family.

As well as discussing the basic principles, Genetics for the Health Sciences also describes the latest technologies and shows how these can be applied to clinical practice.

Genetics for the Health Sciences is an essential text which helps all those in clinical healthcare understand the genetics they need in their professional roles. It is also an ideal coursebook for students in the healthcare professions seeking an understanding of core genetic principles and how these are applied in practice.

Target Audience:

Students and Academicians of Healthcare Professionals.




Preface • About the authors • Notes to readers on the format of this book • Helpful websites

Chapter 1: Setting the scene • Introduction to the book • Defining genetic counseling • Genetic services • Types of genetic testing • Ethical practice • Genetic testing of children • Genetics and insurance • Impact of the genetic condition on families • Nondirectiveness in genetic health care • Disability and choice • Conclusion • Test yourself • Further resources

Chapter 2: The family history • Introduction • Guidelines for drawing the family tree • Drawing the tree • a practical example using the Singh family • Dealing with unexpected information when taking the family tree • Inheritance patterns • Making a numerical assessment of risk • Bayesian calculations • Using the Hardy?Weinberg equation to calculate carrier risk • Lay knowledge and the perception of risk • Conclusion • Further resources • Test yourself

Chapter 3: Counseling issues • Introduction to counseling in the context of genetic healthcare • The psychological needs of the client and the family • Basic counseling skills • Non-directiveness • Models of counseling • Counseling supervision • Conclusion • Further resources

Chapter 4: Basic concepts in genetic science • Introduction • The chromosomes • Investigating the chromosome structure • Molecular cytogenetics • Mendelian inheritance • Expression and penetrance • Genetic mutations • Polygenic inheritance • Mitochondrial inheritance • The Human Genome Project and beyond • Treatment of genetic disease • Conclusion • Test yourself • Further resources

Chapter 5: Public health genetics • Introduction • Evaluation of genetic tests • Direct to consumer genetic testing • Implications for practice • Test yourself • Further resources

Chapter 6: Before conception • Introduction • Maternal age • Neural tube defects and the role of folic acid in lowering the risk • Genetic conditions affecting the mother • Maternal drug therapy • Consanguinity • Preparing for prenatal diagnosis • Pre-implantation genetic diagnosis • Issues of fertility • Adoption • Conclusion • Test yourself • Further resources

Chapter 7: Pregnancy and the perinatal period • Introduction • Care of the mother during pregnancy • Spontaneous abortion (miscarriage) • Down syndrome (trisomy 21) • Antenatal screening • Antenatal testing techniques • Examination of the neonate • Post-mortem examination of the neonate • Conclusion • Test yourself • Further resources

Chapter 8: Infancy • Introduction • Congenital abnormalities • Chromosone abnormalities • Examination of the neonate • Breaking bad news • Genetic testing in the neonate • Neonatal screening • Conclusion • Test yourself • Further resources

Chapter 9: Childhood and adolescence • Introduction • Why seek a diagnosis? • Developmental delay • Learning disability • What is dysmorphism? • Genetic conditions in childhood • Genetic testing of children • Genetics of common complex disorders and traits affecting children • Genetic healthcare issues in adolescence • Conclusion • Test yourself • Further resources

Chapter 10: Adulthood • Introduction • Familial cancer • Huntington disease • a model for pre-symptomatic testing • Psychiatric conditions • Genetic hemochromatosis • The perspective of the family carer • The multi-professional team and long-term care • Informed consent and mental capacity • Conclusion • Test yourself • Further resources

Chapter 11: Older adulthood • Introduction • Genomics and aging • Genetic testing and common diseases • Pharmacogenomics • Attitudes of older adults to genetic testing • Psychosocial issues relevant to older adults • Conclusion • Test yourself • Further resources

Chapter 12: Development of genetic healthcare competence in the health professions • Introduction • A matter of peas • historic development in genetics • The eugenics movement • Growth of medical genetics • Establishment of specialist genetic services • Genetic services • the current situation • Establishment of a genetic counseling profession • Core competences in genetics for health professionals not specializing in genetics • Conclusion • Further resources • Glossary of terms • References • Answers to ?Test yourself • questions

Appendix 1 • The Bayesian calculation • Appendix 2 • The Hardy?Weinberg equilibrium • Appendix 3 • Southern blotting


About the Authors:

Heather Skirton Professor of Applied Health Genetics, University of Plymouth, UK
Christine Patch Consultant Genetic Counsellor, Clinical Genetics Department  Guys's and St Thomas? NHS Foundation Trust, London, UK


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