Suresh Kumar Sharma
Lecturer, College of Nursing Dayanand Medical College and Hospital
Ludhiana, Punjab India
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Human Genetics in Nursing
© 2007, Suresh Kumar Sharma
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
9788184481303
Typeset at JPBMP typesetting unit
Printed at Rajkamal Press
5Dedicated to
Sweet Memories of
My Grandfather
7Foreword
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 genetic. 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 nursing 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 8choices 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 Indian nursing students and practicing nurses.
Dr (Mrs) Inderjit Walia
Principal
National Institute of Nursing Education, PGIMER
Chandigarh, India
9Preface
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 with disease, 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 the nursing care for all age group patients to understand genetic foundation of the different diseases.
11Acknowledgements
For the kind permission to use illustrations, supply of photographs, helpful suggestions, advises and constant support, the author is indebted to the following organizations and persons:
Indian Nursing Council, World Health Organization, US National Laboratory of Medicine, Dr (Mrs) Inderjit Walia, Dr (Mrs.) Jasbir Kaur, Smt GD Sharma, Mrs Bhagwati Devi Sharma, Sh BN Sharma, Mrs Reena Sharma, Er KK Sharma, Mrs Poonam Sharma, Mr Vinod Bhatt and Dr (Mrs) Sukpal Kaur.