Second EditionSuresh K Sharma RN MSc (N) PhD Associate Professor College of Nursing Dayanand Medical College and Hospital Ludhiana, Punjab, India
Jitendar P Vij
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Human Genetics in Nursing
© 2010, Jaypee Brothers Medical Publishers (P) Ltd.
All rights reserved. No part of this publication should be reproduced, stored in a retrieval system, or transmitted in any form or by any means: electronic, mechanical, photocopying, recording, or otherwise, without the prior written permission of the author and the publisher.
First Edition: 2007
Second Edition: 2010
Typeset at JPBMP typesetting unit
Printed at Ajanta OffsetForeword
Genetic nursing may seem like futuristic specialty health care, but along with managed care and evidence-based practice, a genetic science revolution is re-defining basic nursing practice. Some revolutions are surprising because of the rapid pace of change that they create. The rapid and recent advances in techniques and knowledge in the field of human genetics has outpaced the transformation of professional education programs, leaving most postgraduate nurses and physicians lacking in knowledge for the essentials of practices in the new era of human genetics. This book offers the basics of genetics and genetic health care for the practice of every nurse and specialist.
The basic scientists have recently finished the work of sequencing a draft of the entire human genome. The much-publicized discovery of genes associated with specific diseases as this work progresses has the public demanding that this knowledge be used as the basis of their health care. What the public does not know is that genetic therapies are rare, whereas genetic testing poses immediate risks for individuals and their entire families in terms of discrimination and eugenics. There is also a misconception that every gene mutation will manifest as disease; actually environmental factors, such as lifestyle and behavior, will determine disease manifestation for most gene mutations. This is an opportunity for nurses to practice health promotion tailored to highly specific and uniquely personal predispositions, in other words, individualized health care, nurses can offer care that protects patients and families from the risks associated with genetic information, including addressing family issues. Nurses are also needed to refer patients to genetic specialists and assist patients in making choices as a genetic health care. Every nurse is needed; do not miss the revolution. I hope this book will serve all above said purposes for nursing students and practicing nurses.
Dr (Mrs) Indarjit Walia
National Institute of Nursing Education
PGIMER, Chandigarh, IndiaPreface to the Second Edition
The genetic knowledge obtained from the Human Genome Project has changed not only the way disease treatment is approached but also more importantly, how nurses look at health promotion and health maintenance. DNA is at the center of the state of our health. We now know that good health is associated with gene functioning properly and if genes are not functioning properly, disease or an increased risk for disease can result. This includes not only the traditional genetic disorders but also common complex disease such as heart disease, stroke, diabetes and several kinds of cancer. The knowledge gained from human genome research has and will have a profound impact on the prevention, diagnosis and treatment of genetic disorders and complex diseases.
New edition of the book conventionally means addition. The new edition of this book is based on current syllabus prescribed by Indian Nursing Council for graduate and postgraduate nursing students. This has included most of the current genomic empirical evidences to help the nurses and nursing students to learn current genomic advancements in testing, counseling and treatment of genetic disorders. In addition, this edition of book is presenting role of nurses in all the discussions and I assure that this edition will fulfil the needs of undergraduate as well as postgraduate nursing students.
Suresh K SharmaPreface to the First Edition
Understanding molecular and clinical human genetic principles and concepts for nursing practice is relevant in assisting nurses to understand disease, assess risk for disease, provide a scientific foundation for the care they provide and promote health and wellness among patients and their families. Today, a foundational knowledge of the principles, practices, and psychosocial implications of genetics is essential to basic nursing care.
This book is not intended to be exhaustive of the genetic issues important for nurses. Instead, it is meant to provide insight, food for thought, into some of the human response, care delivery, and professional issues nurses will be required to grapple with today and in the coming years. The edition begins with a brief overview of molecular human genetics. It is critical that each of us grasp this basic information because it is foundational to understanding human form and function, disease genesis and progression, health promotion, and disease prevention. As nurse, you will be asked to explain it and relate it to personal and family health and illness. Because increasingly it is believed that all disease has a genetic component, and because nurses interact with those diseases, we will be responsible for identifying hereditary, familial, environmental, and lifestyle characteristics that increase family members’ risk for disease and promoting behaviors that reduce such risks. Nursing's role in genetics extends across all age groups. Therefore, this book will serve the purpose to cover the prescribed syllabus of genetics for graduate and postgraduate nurses as well as it will be useful to enhance the knowledge of nurses about genetics who are actively involved in nursing care for all age group patients to understand genetic foundation of the different diseases.
Suresh K SharmaAcknowledgments
Writing book needs many direct and indirect personal and professional inputs. I feel greatly delighted to acknowledge the active support and love of my grandmother (Smt GD Sharma), mother (Smt BD Sharma), father (Sh BN Sharma), brothers (Er KK Sharma and Sh Dinesh Sharma), sister in-law (Smt Poonam Sharma), my sisters (Mrs Saroj Sharma and Mrs Sunita Sharma) and all other members of my family without which this attempt would not have been possible. The perseverance shown by my wife, Mrs Reena Sharma, during my overstretched working hours is greatly appreciated. Her critical analysis was very helpful in improving the quality of illustrations. I would like to thank my teachers, Dr Madan Mohan Sharma, Sh AP Chowdia, Smt Monica L, Dr Indarjit Walia, Dr Sukpal Kaur, Mrs Gurmeet Bajwa and my all other teachers who taught me from day one to till date for their blessings and encouragement in my academic development. I am extremely thankful to Dr Daljit Singh, Principal, DMCH and Dr (Mrs) Jasbir Kaur, Principal, College of Nursing, DMCH, for their constant encouragement and guidance during this publication. It gives me immense pleasure to thank my all friends, colleagues, faculty of my college and other senior nursing faculty members of different nursing colleges from various states of India who helped me to bring this edition. It is a great pleasure to acknowledge the crucial support given by Jaypee Brothers Medical Publishers.
A special acknowledgment to my sweet daughter Simon Sharma.