Concept Of Genetics In Nursing by Rahul Kumar

CONCEPT OF

GENETICS IN NURSING

Prof. HCL Rawat Ms. Simranjit Kaur

Consortium eLearning Network Private Limited A-118, 1st Floor, Sector 63, Noida, U.P., 201301

Published in India in 2020 by NOLEGEIN A-118, 1st Floor, Sector 63, Noida, U.P., 201301 NOLEGEIN is an imprint of Consortium eLearning Network Private Limited Printed at LAXMAN PRINT O GRAPHICS C-293, Sector-10, Noida-201301 All rights reserved. No part of this book may be reprinted or reproduced or utilized in any form or by any electronic, mechanical, or other means, now known or hereafter invented, including photocopying and recording, or in any information storage or retrieval system without permission in writing from the publisher.

ISBN: 978-93-87376-00-7

LIST OF REVIEWERS Ms. Jyoti Sarin Principal, Maharishi Markandeshwar College of Nursing, Maharishi Markandeshwar (Deemed to be University), Ambala, Haryana, India Ms. Mala Goswami Principal, College of Nursing, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, India Ms. Vibah Associate Professor, State Institute of Nursing and Paramedical Sciences, Sri Muktsar Sahib, Punjab, India Mr. Bhim Singh Lecturer, National Institute of Nursing Education, Post Graduate Institute of Medical Education & Research, Chandigarh, India Dr. Sher Singh Faculty, Government Nursing College, Sawai Man Singh Medical College, Jaipur, Rajasthan, India Dr. Sukhpal Kaur Lecturer, National Institute of Nursing Education, Post Graduate Institute of Medical Education & Research, Chandigarh, India Dr. Pity Kaul Professor, School of Health Sciences, Indira Gandhi National Open University, Maidan Garhi, New Delhi, India Ms. Satinder Kaur Faculty, University College of Nursing, Baba Farid University of Health Sciences, Faridkot, Punjab, India

Table of Contents Chapter 1 Introduction to Genetics.................................................................................. 1 Chapter 2 Review of Cellular Division, Mutations and the Law of Inheritance, The Human Genome Project and the Genomic Era.......................................... 13 Chapter 3 Basic Concept of Genes, Chromosomes and DNA...................................... 57 Chapter 4 Approaches to Common Genetic Disorders................................................ 87 Chapter 5 Genetic Testing â&#x20AC;&#x201C; Basis of Genetic Diagnosis, pre-Symptomatic and Predisposition Testing, Prenatal Diagnosis and Screening................................. 123 Chapter 6 Ethical, Legal and Psychosocial Issues in Genetic Testing....................... 195 Chapter 7 Genetic Counselling..................................................................................... 209 Chapter 8 Practical Applications of Genetics in Nursing........................................... 231

AUTHORS BIOGRAPHY HCL Rawat is a postgraduate in Paediatric Nursing from Delhi University (1995) and is currently pursuing PhD from Baba Farid University of Health Sciences, Faridkot, Punjab, India. Presently, he is a professor and principal at the University College of Nursing, a constituent college of BFUHS and Editor-in-chief of Baba Farid University Nursing Journal (BFUNJ) and journal of NRSI (Nursing Research Society of India). He acted as a Dean, Faculty of Nursing Sciences, BFUHS and is also a senate member of BFUHS and an active member of Board of Studies of various universities. He is also a member of selection committees for the nursing faculty of various institutions and universities. He is an active member of Nursing Research Society of India (NRSI), National Neonatology Forum (NNF), Indian Association of Neonatal Nurses (IANN), Secretary and Founder of Paediatric and Neonatal Forum, India (PNNFI) and Trained Nurses Association of India (TNAI). He has published many chapters in books, conducted and chaired sessions in various national and international conferences, organized more than 65 national and international conferences and workshops. He acted as a supervisor for more than 50 thesis projects of PG students and significantly contributed for excellence in collaboration with University of British Columbia, Canada and visited the same university. Simranjit Kaur is a faculty, University College of Nursing, a constituent college of Baba Farid University of Health Sciences, Faridkot, Punjab. She has completed Bachelorâ&#x20AC;&#x2122;s degree in Nursing from College of Nursing, Christian Medical College and Hospital, Ludhiana, Punjab, and did her Masterâ&#x20AC;&#x2122;s Degree in Paediatric Nursing from University College of Nursing, Baba Farid University of Health Sciences Faridkot, Punjab, India. She is an active member of NRSI (Nursing Research Society of India). She is a founder member of Paediatric and Neonatal Forum, India (PNNFI) and TNAI (Trained Nurses Association of India). She has conducted and participated in various research and paediatrics conferences. She has published many research articles in reputed journals. She acted as a supervisor for thesis projects of under-graduate and post-graduate students.

PREFACE Every living thing does one thing the same way: to make more of itself, it first copies its molecular instruction manual – its genes – and then passes this information on to its offspring. This cycle has been repeated for three and a half billion years. But how did we and our very distant relatives come to look so different and develop so many different ways of getting along in the world? A century ago, researchers began to answer that question with the help of a science called ‘Genetics’. The purpose of writing this book is to provide comprehensive knowledge that is easy to understand. The book has unambiguous material related to genetics, various genetic disorders, treatment and genetic counselling for the graduate and postgraduate students. All the unnecessary details have been avoided so that the students may not face any difficulty while preparing for their examination. Review questions given at the end of each chapter will help students in evaluating themselves. Presently, nurses provide care to individuals who are suffering from genetic conditions. This book will assist nurses in gaining access to current genetic information, genetic diagnosis, treatment and management. Nurses can collect accurate family history and provide current and relevant information and support to individual families and communities. We, as authors of this book welcome and look forward to valuable suggestions by readers in the future.

~~~ Dedicated to Our Beloved Parents ~~~

ACKNOWLEDGEMENT â&#x20AC;&#x153;Many are the plans in the mind of a man; But it is the purpose of the Lord that will standâ&#x20AC;? We acknowledge all the authors who have contributed in preparing the content of this book. We thank our parents, family, friends and colleagues for their immense encouragement and support in making this book a success. Our special heartfelt thanks to the publisher for their efforts and expertise provided during publication and promotion of this book. The efforts of the team comprising Ms. Rekha Rani (Project Manager), Ms. Anubha Budhalakoti (Editor), Mr. Gaurav Sharma (Designer), and the Marketing team are highly appreciated in successfully launching this book in the market.

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Introduction to Genetics

Concepts of Genetics in Nursing

LEARNING OBJECTIVES At the end of the chapter the learner will be able to: 1. Understand about the historical development of genetics 2. Explain about the concept and impact of genetic disorders on the family and society 3. Discuss about the burden of genetic disorders in India

INTRODUCTION

The integration of genetics into nursing began in the 1980s and has been a slow but important process in improving the quality of healthcare for patients receiving genetic and genomic-based care from nurses. In 1865, Gregor Mendel ‘Father of Genetics’ described the elements of hereditary genes. His observation and analysis of the observable features of pea led him to conclude that specific traits, particulate factors, were passed and unchanged from a parent plant to the next generation. Scientific discoveries during the last several years have provided massive information about the function of the genes and their contribution to human health and genetic disorders. Today, molecular medicine revolves around protein synthesis which is essential for cellular functions. Protein synthesis is governed by the genes contained in DNA.Variations in DNA result in variations in genetic constitution; hence, the final health status of an individual is the result of the interaction of genetic potential and the environment. It has been estimated that there are about 30,000–35,000 genes in humans and about 6 million nucleotides make up these genes. Knowledge of these genes helps in understanding medicine, growth and development. Genes play an important role in health and disease; hence it is essential to understand them. Nurses at present provide care to individuals who are suffering from genetic conditions.They also ensure that these individuals have access to current genetic information, genetic diagnosis, treatment and management. Nurses can collect accurate family history, provide current and relevant information and support to individual families and communities.

HISTORICAL DEVELOPMENT OF GENETICS (1) Charles Darwin (12 February 1809–19 April 1882) • Idea of natural evolution

Introduction to Genetics • Origin of species • Pangenesis theory

Figure 1.1. Charles Darwin. (2) Aristotle (384–322 BC) • He contributed to the Pangenesis theory • He discussed about gemmules

Figure 1.2. Aristotle.

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Review of Cellular Division, Mutations and the Law of Inheritance, The Human Genome Project and the Genomic Era

Concepts of Genetics in Nursing

LEARNING OBJECTIVES 1. 2. 3. 4. 5. 6. 7. 8.

At the end of the chapter the learner will be able to: Define cell and cellular division Discuss about mutation and its causes Enumerate the types of mutation Discuss the effect of gene mutation on health Describe in detail the Laws of Inheritance Discuss about the ABO blood group Discuss about The Human Genome Project and its features Describe The Genomic Era and its positive and negative aspects

INTRODUCTION The Cell is the basic structural, functional and biological unit of all living organisms. Cells are the smallest unit of life that can replicate independently and are often called ‘building blocks of life’. The cells comprising the body continue to divide throughout life: an essential process fundamental to existence. Cell division ensures sustenance and propagation of life. As the cells grow, they reproduce themselves. A diploid cell splits to produce new diploids, each of which is a replica of the original. Without cell division, an organism’s cells would not regenerate, resulting in not just the cell’s death but also the death of the entire organism.

DEFINITION Cell division is the process by which a cell called the parent cell, divides into two or more cells, called daughter cells. Cell division is usually a small segment of a cell cycle. The cell cycle or cell division can also be defined as the series of events that take place in a cell leading to its division or multiplication.

REVIEW OF CELL DIVISION There are two distinct types of cell division: vegetative division, called mitosis, whereby each daughter cell is genetically identical to the parent

Review of Cellular Division, Mutations and the Law of Inheritance, The Human Genome Project and the Genomic Era

cell. A reductive cell division, called meiosis whereby the number of chromosomes in the daughter cell is reduced by half to produce haploid gametes.

Figure 2.1. Cell Division.1

PHASES OF THE CELL CYCLE The cell cycle consists of four phases G1, S, G2 and M. The first three phases (G1, S and G2) comprise the interphase while the M phase constitutes cell division (mitosis or meiosis).

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Basic Concept of Genes, Chromosomes and DNA

Concepts of Genetics in Nursing

LEARNING OBJECTIVES At the end of the chapter the learner will be able to: 1. Define the concept of gene 2. Describe the characteristics of genes 3. Discuss the specific features of genes 4. Enumerate the types of genes 5. Define chromosomes 6. Describe the characteristics of chromosomes 7. Enumerate the types of chromosomes 8. Discuss the models of chromosome structure 9. Discuss about the chromosomal determination of sex 10. Discuss about the chromosomal aberrations 11. Discuss the biological importance of chromosomes 12. Define DNA (deoxyribonucleic acid) 13. Discuss the properties of DNA

INTRODUCTION TO GENES The term gene was introduced by the Danish botanist, plant physiologist and geneticist Wilhelm Johannsen in 1905. The genetic blueprint contained in the nucleotide sequence can determine the phenotype of an individual. The hereditary units, which are transmitted from one generation to the next generation are called genes. A gene is a fundamental biological unit similar to an atom which is the fundamental physical unit. In humans, genes vary in size from a few hundred DNA bases to more than 2 million bases. The Human Genome Project has estimated that humans have between 20,000 and 25,000 genes. Every person has two copies of each gene, one inherited from each parent. Most genes are the same in all people, but a small number of genes (less than 1 percent of the total) are slightly different among people. Alleles are forms of the same gene with small differences in their sequence of DNA bases. These small differences contribute to each person’s unique physical features. Mendel was the first scientist who proposed genes as particulate

Basic Concept of Genes, Chromosomes and DNA

units and called them hereditary elements or factors. But the concept of gene has undergone a considerable change since Mendel’s time.

Modern Concept of Gene

A gene can be described as a polynucleotide chain, which is a segment of DNA. It is a functional unit controlling a particular trait such as eye colour. George Wells Beadle(1903–1989) and Edward Tatum(1909–1975) concluded by various experiments that gene is a segment of DNA that codes for one enzyme. They proposed the one gene–one enzyme hypothesis. But as some genes code for proteins that are not enzymes, the definition of gene was changed to one gene–one protein hypothesis. The concept of gene has undergone further changes as new facts came to light. Since proteins are polypeptide chains of amino acids translated by mRNA, the gene was defined as one gene–one polypeptide relationship. Some proteins have two or more different kinds of polypeptide chains, each with a different amino acid sequence. They are products of different genes. For example, haemoglobin has two kinds of chains, α and β chains, which differ in amino acid sequence and length. They are encoded by different genes. Thus, the gene is defined as one gene–and one polypeptide relationship.

Definition of Gene

A gene is “the basic physical and functional unit of heredity”, which is made up of DNA and acts as instructions to make molecules called proteins. In humans, genes vary in size from a few hundred DNA bases to more than 2 million bases. The Human Genome Project has estimated that humans have between 20,000 and 25,000 genes.

Molecular Definition of a Gene

According to “Harvey Lodish”, a gene is defined as the entire nucleic acid sequence that is necessary for the synthesis of a functional gene product, which may be a polypeptide or any type of RNA. In addition to structural genes (coding genes) it also includes non-coding introns. Most prokaryotic genes transcribe polycistronic mRNA and most eukaryotic genes transcribe monocistronic mRNA.

Structural and Regulatory Genes

Even the one gene–one polypeptide definition is not complete as it does not include the gene which codes for rRNA and tRNA. Only mRNA is translated

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Approaches to Common Genetic Disorders

Concepts of Genetics in Nursing

LEARNING OBJECTIVES 1. 2. 3. 4. 5. 6.

At the end of the chapter the learner will be able to: Define genetic disorders. Enlist the causes of genetic disorders. Discuss risk factors of genetic disorders. Describe statistics of genetic disorders. Discuss classification of genetic disorders. Discuss ethical issues in genetic counselling.

INTRODUCTION

Genes are the building blocks of heredity. They are passed from the parent to the child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins and do many other maintenance jobs. Sometimes there is a mutation, a change in a gene or genes. The mutation changes the geneâ&#x20AC;&#x2122;s instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder.

Causes of Genetic Disorders

Figure 4.1. Causes of Genetic Disorders.

Genetic diseases in humans are caused due to abnormalities in genes and chromosomes. Such defects can be caused by the following mechanisms.

Approaches to Common Genetic Disorders

1. Mutations. Genes encode for proteins some of which, such as enzymes, carry out significant life functions. There are no genes that actually cause a disease. 2. Chromosomal abnormality. Humans have 46 chromosomes, arranged as 23 pairs, in each cell. Each chromosome of a pair is inherited from each of the parent. 3. Aneuploidy. It is caused when there are abnormal numbers of chromosomes in an organism.  Deletion  Duplications  Translocations  Monosomy  Trisomy  Tetrasomy  Triploidy  Tetraploidy 4. Consanguinity. It refers to descent from common ancestors. It occurs when marriage takes place between people having the same ancestors causing the dominance of recessive genes.

RISK FACTORS OF GENETIC DISORDERS

All pregnancies involve some risk of genetic abnormalities. However, certain conditions increase risk. Abnormalities due to several factors: Some birth defects such as cleft lip or palate can be seen. Family history: Having a family history (including the couple’s children) of a chromosomal abnormality increases the risk. Folate deficiency: Risk may also be increased by a diet that is low in folate, for example, neural tube defects result from hereditary abnormalities in a single gene, from chromosomal abnormalities or from exposure to drugs. A woman’s age: The risk of having a baby with Down’s syndrome increases with a woman’s age – steeply after age 35. The ideal age for conception for females is 18–32 yrs. Increasing age or crossing the age limit increases the risk for trisomy 21. Birth defect in a previous baby: Having had a live-born baby with a birth defect or a stillborn baby.

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Genetic Testing â&#x20AC;&#x201C; Basis of Genetic Diagnosis, pre-Symptomatic and Predisposition Testing, Prenatal Diagnosis and Screening

Concepts of Genetics in Nursing 125

LEARNING OBJECTIVES At the end of the chapter the learner will be able to: 1. Define genetic testing 2. Discuss purposes of genetic testing 3. Enlist the indications of genetic testing 4. Discuss the types of genetic testing 5. Describe the procedure of genetic testing 6. Discuss the benefits of genetic testing 7. Discuss the limitations of genetic testing 8. Discuss about the genetic discrimination 9. Discuss genetic testing in neonates and children 10. Discuss differences between research genetic testing and clinical genetic testing 11. Discuss various invasive and non-invasive diagnostic tests 12. Discuss cancer genetics – familial cancer

INTRODUCTION

Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases. In agriculture, a form of genetic testing known as progeny testing can be used to evaluate the quality of the breeding stock. In population ecology, genetic testing can be used to track genetic strengths and vulnerabilities of species populations. In humans, genetic testing can be used to determine a child’s parentage (genetic mother and father) or in general a person’s ancestry or the biological relationship between people. To study chromosomes level of individual genes, genetic testing in a broader sense includes biochemical tests for the possible presence of genetic diseases, or mutant forms of genes associated with an increased risk of developing genetic disorders. Genetic testing identifies changes in chromosomes, genes or proteins. The variety of genetic tests has expanded throughout the years. In the past, the main genetic tests searched for abnormal chromosome numbers and mutations that lead to rare, inherited disorders. Today, tests involve analysing multiple genes to determine the risk of developing specific diseases or disorders, with the more common diseases consisting of heart diseases and cancer. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a

Genetic Testing – Basis of Genetic Diagnosis, pre-Symptomatic

126 and Predisposition Testing, Prenatal Diagnosis and Screening

person’s chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use, and more are being developed. Genetic testing is the process by which a person’s DNA or chromosomes are analysed for the presence of particular DNA sequences that encode for traits of interest. Most often, genetic testing is used to detect inherited disease-causing genes and/or disease-causing mutations that may have arisen spontaneously over time. However, some companies are now offering genetic testing directly to individuals; these tests consider everything from ear wax (wet or dry) to ancestry. Additionally, individuals may seek genetic testing before starting a family to determine their carrier status for certain heritable diseases, like cystic fibrosis. Genetic testing is performed by first taking a blood or saliva sample from a patient. The DNA is then isolated from the cells in the sample. The subsequent analysis performed depends on the goal of the test but often includes DNA sequencing, direct observation of chromosomes, or specialized tests called ‘microarrays’ that are used to detect common mutations present in certain conditions, like breast cancer. Protein levels or protein function can also be used as an indirect measurement of gene function. The results of genetic testing are typically delivered to the patient by a genetic counsellor or physician, who will then discuss various preventative measures or treatment options. Common diseases that are screened for through the use of genetic testing include breast cancer, Huntington’s disease, fragile X syndrome and Tay-Sach’s disease. Genetic testing is also used for prenatal diagnosis, most frequently to detect abnormalities in chromosome number. Humans have 46 chromosomes, and a deviation in the total chromosome number is referred to as an aneuploidy. One common aneuploidy involves an extra copy of chromosome 21, which leads to the development of Down’s syndrome.

DEFINITION

Genetic testing is defined as ‘examining a sample of blood or other body fluids for bio-chemical, chromosomal, or genetic markers that indicate the presence or absence of genetic diseases’. or Genetic testing is also defined as ‘a type of medical test that identifies changes in chromosomes, genes or proteins’.

PURPOSES OF GENETIC TESTING

1. Carrier screening, which involves identifying unaffected individuals who carry one copy for the disease to be expressed.

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Ethical, Legal and Psychosocial Issues in Genetic Testing

Concepts of Genetics in Nursing 197

LEARNING OBJECTIVES

At the end of the chapter, the learner will be able to: 1. Discuss various issues in genetic testing 2. Explain basic legal and ethical principles in genetics 3. Discuss about ELSI (ethical, legal, social implications)

INTRODUCTION

Over the past decade, many ethical, legal and social implications (ELSI) associated with genetic testing and research have been raised. In order for genetic testing to be used safely and appropriately, these issues should be discussed with patients so that they are aware of risks and benefits. Several concerns have arisen regarding the use and potential misuse of genetic information. Genetic information may differ from other health information because of its long-term implications for an individual and his or her family. Concerns range from the analytical and clinical validity of a genetic test, to potential discrimination by health insurers or employers, to the duty to disclose genetic information to potentially affected family members. Rapid developments in genetic knowledge and technologies increase the ability to test asymptomatic children for late-onset diseases, disease susceptibilities and carrier status. These developments raise ethical and legal issues that focus on the interests of children and their parents. Although parents are presumed to promote the well-being of their children, a request for a genetic test may have negative implications for children, and the healthcare provider must be prepared to acknowledge and discuss such issues with families. This report is grounded in several social concepts: First, the primary goal of genetic testing should be to promote the well-being of the child. Second, the recognition that children are part of a network of family relationships supports an approach to potential conflicts that is not adversarial but, rather, emphasizes a deliberative process that seeks to promote the childâ&#x20AC;&#x2122;s well-being within this context. Third, as children grow through successive stages of cognitive and moral development, parents and professionals should be attentive to the childâ&#x20AC;&#x2122;s increasing interest and ability to participate in decisions about his or her own welfare.

198 Ethical, Legal and Psychosocial Issues in Genetic Testing

BASIC LEGAL AND ETHICAL PRINCIPLES IN GENETICS

Figure 6.1. Basic Legal and Ethical Principles in Genetics. 1. Respect for autonomy This principle requires that a physician approaching a patient about a particular intervention (procedure or genetic test) has the responsibility to provide sufficient information to allow that individual to make an informed independent and voluntary judgement about whether he or she wishes to proceed. In medical genetics, setting this process can be broken into three steps: a. Pre-test education and counselling in which the benefits and risks are explained. b. Carrying out the test itself, if the patient wishes to proceed. c. Post-test counselling about the outcome of the testing. 2. Beneficence and non-maleficence Beneficence refers to the mandate to maximize the benefits of whatever invention is being considered. Non-maleficence is the duty to â&#x20AC;&#x2DC;first do no harmâ&#x20AC;&#x2122;.

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Genetic Counselling

Concepts of Genetics in Nursing 211

LEARNING OBJECTIVES 1. 2. 3. 4. 5. 6.

At the end the learner will be able to: Define genetic counselling Enlist the objectives of genetic counselling Discuss the types and process of genetic counselling Describe the role of a genetic counsellor Discuss the role of the nurse in genetic counselling Discuss the ethical issues in genetic counselling

INTRODUCTION In response to increasing knowledge of the role of genetics in health and disease, ‘Reed’ proposed the term genetic counselling in 1947. Earlier, genetic counselling was based largely on family histories and pedigrees, and consisted of estimating and explaining the risk of occurrence or recurrence of a trait or disease. Today, advances in knowledge and techniques have expanded the scope of information and allowed great precision and viable alternative treatments and options. However, the emphasis should remain on the human elements of communications, counselling and support. The National Society of Genetic Counsellors (NSGC), founded and incorporated in 1979, is the largest association of genetic counsellors in the world. Its members include genetic counsellors and other health care professionals working in the field of medical genetics from the United States, Canada and around the world. The NSGC’s stated vision is to be the leading voice, authority and advocate for the genetic counselling profession. It’s stated mission is to advance the various roles of genetic counsellors in health care by fostering education, research and public policy to ensure the availability of quality genetic services.

DEFINITION

According to the ‘National Society of Genetic Counsellors (1979)’:‘Genetic counselling is the process of helping people to understand and adapt to the medical, psychological and familial implications of genetic contributions to disease’. Genetic counselling aims to facilitate the exchange of information regarding a person’s genetic legacy. It attempts to:

212 Genetic Counselling

Accurately diagnose a disorder, the probable course of disorder and its available management. • Assess the risk of recurrence in the concerned family members and their relatives. • Provide alternatives for decision-making. • Provide support groups that will help family members to cope with the recurrence of a disorder. • Make the best possible adjustment to the disorder in an affected family member. OR “It is defined as a process in which patients or their relatives at the risk of a genetic disorder are made aware of the consequences of the disorder, its transmission and the ways by which this can be prevented or mitigated”. •

OBJECTIVES OF GENETIC COUNSELLING

The main objectives of genetic counselling are:  To make precise diagnosis, explain the cause and course of disease and treatment options.  Parents should be provided the risk figures for future offsprings based on genetic facts.  Information should be offered on prenatal diagnosis possibilities and the risks involved.  Efforts are made to reduce parental anxiety and guilt.  The diagnosis and information discussed in genetic counselling may have implications for other family members.

INDICATIONS FOR GENETIC COUNSELLING • The client has, or is suspected of having a birth defect or genetic condition. • The client has an undiagnosed condition or birth defect. • The client is a carrier for a genetic condition or is concerned about the possibility of being a carrier. • The client is from a population known to be at increased risk for a particular genetic condition. • The client has a relative with a genetic condition and may be at increased

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Practical Applications of Genetics in Nursing

Concepts of Genetics in Nursing 233

LEARNING OBJECTIVES 1. 2. 3. 4.

At the end of the chapter the learner will be able to: Discuss the development of genetics in nursing Describe the essential competencies of genetics in nursing Discuss practical applications of genetics in nursing Benefits of genetics for nurses

INTRODUCTION

The need of education for nurses in genetics was expressed more than 25 years ago. Genetic services and education have been made available in the curricula of health professionals including nurses. Efforts have been made to develop a team of nurses who are well-versed in genetics. These efforts are expected to substantially improve the capability of nurses to contribute more effectively in the delivery of genetic services. Adopted from the early Christians in 30 AD, the term ‘nurse’ originated from the Latin word ‘nutria’, which means to ‘nurture or nourish’. Nursing is one of the oldest forms of healthcare and continues to be a growing field of medicine. Genetics, which is the study of inherited traits and their variation is a much more recent field of medicine. The experiments and theories of Gregor Mendel presented in the mid-19th century helped to introduce the field of genetics into medicine. Genomics is a subset of genetics that compares and analyses genomes and how the genes interact with one another. Both genetics and genomics help to reveal how closely related we are to each other and to other species. This scientific study is ongoing and strives to interpret health, illness, disease risk and treatment response. The progress in genetics and genomics is applicable to the entire spectrum of healthcare and all health professionals and as such to the entire nursing profession.Genetics and genomics are important to healthcare because they provide information in the diagnosis, treatment and prevention of diseases and illnesses. Even though genetics has been a growing field of medicine since the mid-19th century, the process of integrating genomics into the nursing curriculum, National Council Licensure Examinations, continuing education and certification was not highlighted until the 1980s. Genetics and genomics are fundamental to the nursing practice because the basis of genetics can recognize individuals at risk for certain illnesses and diseases, identify the risks of certain disease or illnesses when conceiving children, facilitate drug dosage or selection for

234

Practical Applications of Genetics in Nursing

certain illnesses or specific patients; genetics promotes benefits in treatment of particular ailments. However, it took 20 more years until the Health Recourses and Services Administration (HRSA) stressed the significance of incorporating genetics into nursing education. After HRSAâ&#x20AC;&#x2122;s proposal, there was minor advancement and the development that was established contained a lot of inconsistency. The progress of integration continued to be slow and limited. By fall of 2005, only 30% of academic nursing programs contained a curriculum thread in genetics and genomics. One of the leading factors in the limited progress of genetics integration is that the relevance to all nursing practice is not fully appreciated by many, and genetics is also seen by many nurses to be a subspecialty.

DEVELOPMENT OF GENETICS IN NURSING

The genetic and genomic competencies are important to the practice of all nurses regardless of academic preparation, practice setting, role or specialty. The competencies are significant because they establish a foundation and set of guidelines for the nursing workforce on administering minimal amount of genetic and genomic-based healthcare. Since the competencies would only reflect the minimalist amount of genetic and genomic-based healthcare, they were specifically drawn up to focus on the scope of practice for registered nurses. This was done because a registered nurse is a general requirementand requires graduation from a college or university nursing program. To begin the development of the competencies, the initial strategy of the United States of America was to establish the Steering Committee. The Steering Committee comprised nurses from a variety of professional nursing agencies, academic settings and organizations. Two of the major nursing leaders, Jean Jenkins, RN, PhD, FAAN and Kathleen Calzone, RN, MSN, APNG, FAANwere chosen as the co-chairs of the committee. The committeeâ&#x20AC;&#x2122;s fundamental function was to generate a mechanism for establishing competencies by recognizing, examining and comparing existing published competencies. The published competencies that were being examined targeted all healthcare professionals, specifically those practicing genetics, nurses with bachelorâ&#x20AC;&#x2122;s degrees and advanced practice nurses. After the published competencies were reviewed carefully, the development of the essential competencies was completed in four phases called the process of consensus. During phase I of the process of consensus, a subset of the committee was created to synthesize competencies from the documents under review that