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Skirton, Heather. Applied genetics in healthcare: a handbook for specialist practitioners/ Heather
Skirton, Christine Patch, Janet Williams. p.; cm. Includes bibliographical references. ISBN 1-
85996-274-2 (alk. paper) 1. Medical genetics—Handbooks, manuals, etc. 2. Human genetics—
Handbooks, manuals, etc. [DNLM: 1. Genetics, Medical. 2. Genetic Counseling. QZ 50 S638a
2005] I. Patch, Christine. II. Williams, Janet K. III. Title. RB155.S525 2005 616′.042–dc22
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 Contents

Preface vii
Using this book viii
Abbreviations ix

1 Introduction to genetic healthcare 1

2 Foundations in genetic science 11
3 Working practically in genetic healthcare 30
4 Working professionally in genetic healthcare 52
5 Working to support families 62
6 Working as an educator for families and professionals 76
7 Working as a researcher 86
8 Autosomal dominant inheritance 99
9 Autosomal recessive inheritance 112
10 X-linked inheritance 133
11 Familial cancer 150
12 Chromosomal and non-traditional patterns of inheritance 169
13 Multifactorial inheritance and common diseases 185

Appendix I Use of genetics knowledge by advanced-level practitioners 197

Glossary of terms 223
Index 230
 Preface

Increasingly, genomics is having an impact on mainstream healthcare. All health

professionals will therefore be required to understand basic genetic concepts, but the
depth of knowledge required will vary according to the role of the practitioner and the
setting in which he or she works. The genetic knowledge and skills required to practice
could be differentiated into three levels.

Foundation level

At this level, the practitioner needs to understand basic genetic principles, be able to
detect situations in which there may be a genetic influence on the disease state and
understand how to obtain specialist advice and information. This level of practitioner
would include many general nurses and allied health professionals.

Advanced level

Practitioners in this group are generally specialists in a particular field of healthcare that
requires knowledge of genetics in specific topics. In addition to understanding basic
genetic principles, a practitioner at this level requires an in-depth knowledge of the
genetic influence on the types of conditions involved in their realm of expertise. This
group would include fetal medicine midwives or obstetric nurses, pediatric nurses and
oncology nurses. It might also include some allied health professionals, such as speech
and language therapists who work with patients with neurodegenerative conditions. A list
of the types of work and knowledge required for some of the practitioners in this group is
included in Appendix I.

Specialist genetics level

General specialist practitioners working in the field of genetics, such as genetics nurses or
genetic counselors, would be included in this category.
 Using this book

Skirton and Patch’s first book, Genetics for Healthcare Professionals, was aimed at
meeting the needs of practitioners at foundation level, but could be used as a first text for
any healthcare practitioner who is new to genetics. This book includes information at a
more advanced level and is chiefly written as a handbook for those training as genetics
specialists. However, for completeness, some basic genetic science is also included in
Chapter 2, with relevant sections expanded in later chapters where they apply. Many
sections of the book will be relevant to advanced practitioners in other specialist areas of
healthcare and the authors suggest that those readers select from the book those sections
that will be relevant to their specific areas of expertise.
A glossary of terms is provided at the end of the book and the list of website resources
is comprehensive. It is hoped that experienced practitioners will also use the book as a
resource handbook and as a source of references for wider reading on specific topics of
interest.
 Abbreviations
Abbreviation Definition
ABGC American Board of Genetic Counseling
AFP alphafetoprotein
AGNC Association of Genetic Nurses and Counsellors
APNG Advanced Practice Nurse in Genetics
APOE apolipoprotein
AS Angelman syndrome
ASHG American Society for Human Genetics
AT ataxia telangectasia
CADASIL cerebral autosomal dominant arteriopathy with subcortical
infarcts and leukoencephalopathy
CF cystic fibrosis
CFTR cystic fibrosis transmembrane receptor
CPEO chronic progressive external ophthalmoplegia
DMD Duchenne muscular dystrophy
DNA deoxyribonucleic acid
DRPLA dentatorubral-pallidoluysian atrophy
FAP familial adenomatous polyposis
FISH fluorescent in situ hybridization
G6PD glucose-6-phosphate dehyrogenase
GCN Genetics Clinical Nurse
GNCC The Genetic Nursing Credentialing Commission
HBOC hereditary breast and ovarian cancer
hCG human chorionic gonadotrophin
HD Huntington disease
HIF hypoxia-inducible factor
HIPPA The Health Insurance Portability and Accountability Act
HLA human leukocyte antigen
HNPCC hereditary non-polyposis colon cancer
HRT hormone replacement therapy
LDLR Low-density lipoprotein receptor
JCMG Joint Committee on Medical Genetics
 LDLR Low-density lipoprotein receptor
LHON Leber hereditary optic neuropathy
LS Leigh syndrome
MCADD medium-chain acetyl-CoA dehydrogenase deficiency
MELAS mitochondrial encephalomyopathy with lactic acidosis and
stroke-like episodes
MERRF myoclonic epilepsy with ragged-red fibers
MMR mismatch repair
mRNA messenger RNA (ribonucleic acid)
MSI microsatellite instability
MTHFR methylenetetrahydrofolate reductase
NARP neurogenic weakness with ataxia and retinitis pigmentosa
NCHPEG National Coalition for Health Professional Education in
Genetics
NF neurofibromatosis
NFl neurofibromatosis type I
NF2 neurofibromatosis type II
NIH National Institutes for Health
NSGC National Society of Genetic Counselors
NT nuchal translucency
OMIM Online Mendelian Inheritance in Man
PAH phenylalanine hydroxylase
PAPP-A pregnancy associated plasma protein A
PCR polymerase chain reaction
PFGE pulse-field gel electrophoresis
PKU phenylketonuria
PNF plexiform neurofibroma
PSA prostate-specific antigen
PWS Prader-Willi syndrome
RFLP restriction fragment-length polymorphism
RP retinitis pigmentosa
SCD sickle-cell disease
SMA spinal muscular atrophy
SNP single nucleotide polymorphism
TA transactional analysis
uT3 unconjugated oestriol
UPD uniparental disomy
VEGF endothelial growth factor
VHL von Hippel Lindau syndrome
VNTR variable number tandem repeat
XLRP X-linked retinitis pigmentosa
 1
Introduction to genetic healthcare

1.1 Defining genetic healthcare

This book is written as a handbook for those who provide genetic healthcare. Genetic
healthcare is defined by the authors as any intervention by a health professional that is
aimed at addressing the physical, psychological, cognitive, emotional, or social needs of
an individual or family, in cases in which those needs are connected with the presence or
risk of a genetic condition. These interventions are usually delivered by professionals
with a nursing, genetic counseling, or medical training. Although the professional
background will undoubtedly have some influence on the delivery of care, many of the
competencies and skills that are required to provide such care are common to all groups
of specialist practitioners.
Genetics became the focus of a specialist healthcare service—requiring a general
genetics knowledge at an advanced level—in both the United Kingdom (UK) and the
United States of America (USA) after World War II. However, before that time genetic
healthcare was offered as part of the medical care open to families and individuals by
doctors operating in other specialities. This was particularly evident in pediatrics, in
which the genetic basis of the inborn errors of metabolism were identified about 100
years ago (Garrod, 1908), and in neurology, in which patients affected by adult-onset
inherited conditions (such as ‘Huntington’s chorea’ and Charcot MarieTooth disease)
were treated. Currently, genetic services are mainly provided through specialist genetic
centers, or in disease-focused programs, and by professionals with specific appropriate
training working with colleagues in closely related fields.
Delivery of appropriate genetic healthcare is based on a belief that individuals have an
inherent right to be properly informed about the genetic risks and reproductive options
that might affect them, and that they should be supported during any decision-making
process (Clarke, 1997).
In many specialist genetic centers, a multi-professional team approach enables a
variety of expertise to be utilized to enhance client care. This book is written as a
handbook for practitioners who provide genetic services, whether in a genetic center or as
part of a team that provides genetic healthcare to a group of patients with a specific
genetic health need.

1.2 Definition of genetic counseling

The aim of genetic services is to assist people who are at risk of developing or carrying a
genetic disease to live and reproduce as normally as possible (Pembrey, 1996). This
involves making accurate diagnoses, a discussion of appropriate options for testing or
 Applied genetics in healthcare 2

reproduction, and offering psychosocial support to families using the service (Clarke,
1997).
The definition of genetic counseling that is accepted in North America and in the UK,
as well as in many other countries, was written by the American Society for Human
Genetics (ASHG) in 1975. Although more than 30 years have passed since it was first
written, it still accurately reflects the extent of services provided under the title ‘genetic
counseling’. It states that genetic counseling is:

‘a communication process which deals with human problems associated

with the occurrence, or the risk of occurrence, of a genetic disorder in a
family. This process involves an attempt by one or more appropriately
trained persons to help the individual or family to [1] comprehend the
medical facts, including the diagnosis, probable course of the disorder,
and the available management; [2] appreciate the way heredity contributes
to the disorder, and the risk of recurrence in specified relatives; [3]
understand the alternatives for dealing with the risk of recurrence; [4]
choose the course of action which seems to them appropriate in view of
their risk, their family goals and their ethical and religious standards, and
to act in accordance with that decision; and [5] make the best possible
adjustment to the disorder in an affected family member and/or the risk of
recurrence of that disorder’ (American Society of Human Genetics, 1975).

1.3 Genetic services within a healthcare system

The organization of genetic services necessarily varies from country to country. It is

affected by the structure of the healthcare system, funding of healthcare, routes for
professional education, statutory regulation of healthcare professionals, and healthcare
culture and traditions. In many countries, other healthcare issues dictate to a large
degree—to the extent that genetics is, of necessity, a low priority at present. In this
chapter, the professional practice of non-medically trained practitioners, such as genetics
nurses and genetic counselors in the UK and USA, are described, but these are by no
means the only models of practice.

Genetic services in Europe

Clinical genetic services are established in at least 29 different countries in Europe,
although the level of service is extremely varied. In some countries, such as the UK,
Belgium, Denmark, the Netherlands, and Norway, a team approach is taken and both
medical and non-medical personnel are part of the team who provide genetic healthcare.
In the UK and the Netherlands, most genetic counselors initially trained in nursing or a
similar paramedical field, but in Belgium genetic counselors frequently have a
background in psychology. Recently, a Master’s degree course in genetic counseling was
approved in France to train genetic practitioners in that country. There has been a
powerful medical influence on the practice of genetics nurses and counselors within
Europe, as doctors usually lead clinical genetic services. Whereas in the UK genetics is
 Introduction to genetic healthcare 3

designated a medical specialty, this is not the case in other areas of Europe, and therefore
genetic counseling may be undertaken by doctors trained in other related specialties, such
as obstetrics or pediatrics.
Specialist genetic services are provided in the UK by teams working in Regional
Genetics Centres that are publicly funded by the National Health Service. This means that
clients are able to access services free of charge. The genetics team usually includes
medically trained clinical geneticists and non-medical genetic counselors. In the UK,
most genetic counselors have a background in nursing, although there are an increasing
number who enter the field from non-clinical backgrounds after completing a
postgraduate Master’s degree in genetic counseling. All use the term ‘genetic counselor’
as a professional title.
Specialist practitioners are now registered as genetic counselors by the Association of
Genetic Nurses and Counsellors (AGNC) Registration Board (Skirton et al., 2003).
Genetics nurses and counselors practicing in the UK are bound by the AGNC Code of
Ethics and are eligible for registration if they are either a registered nurse with a
Bachelor’s or higher degree or have completed an approved Master’s degree. The
practitioner demonstrates competence by submission of a portfolio of evidence after at
least 2 years of mentored experience in genetic healthcare (AGNC, 2004). The AGNC
competencies are listed in Box 1.1.

Box 1.1 AGNC competencies for UK genetic counselors

Core competencies for the practice of genetic counseling

The genetic counselor is able to:

Communication skills
• Establish a relationship with the client and elicit the client’s concerns and expectations.
• Elicit and interpret appropriate medical, family, and psychosocial history.
• Convey clinical and genetic information to clients appropriate to their individual
clinical needs.
• Explain the options available to the client, including risks, benefits and limitations.
• Document information, including case notes and correspondence in an appropriate
manner.
• Plan, organize, and deliver professional and public education.

Interpersonal, counseling and psychosocial skills

• Identify and respond to emerging issues of a client or family.
• Acknowledge the implications of individual and family experiences, beliefs, values, and
culture for the genetic counseling process.
• Make a psychosocial assessment of the client’s needs and resources, and provide
support, ensuring referral to other agencies as appropriate.
• Use a range of counseling skills to facilitate the client’s adjustment and decision-
making.
• Establish effective working relationships to function within a multi disciplinary
 Applied genetics in healthcare 4

genetics team and as part of the wider healthcare and social care network.

Ethical practice
• Recognize and maintain professional boundaries.
• Demonstrate reflective skills within the counseling context, and in personal awareness
for the safety of clients and families, by participation in counseling/clinical
supervision.
• Practice in accordance with the AGNC Code of Ethical Conduct.
• Present opportunities for clients to participate in research projects in a manner that
facilitates informed choice.
• Recognize his or her own limitations in knowledge and capabilities and discuss with
colleagues or refer clients when necessary.
• Demonstrate continuing professional development as an individual practitioner and for
the development of the profession.
• Contribute to the development and organization of genetic services.

Critical thinking skills

• Make appropriate and accurate genetic risk assessment
• Identify, synthesize, organize, and summarize relevant medical and genetic information
for use in genetic counseling.
• Demonstrate the ability to organize and prioritize a caseload.
• Identify and support clients’ access to local, regional and national resources and
services.
• Develop the necessary skills to critically analyze research findings to inform practice
development
AGNC (2004) www:agnc.co.uk/Registration/competencies

Genetic services in the USA

As in the UK, genetic services are provided by a variety of healthcare professionals in the
USA. However, in the USA, genetic healthcare services are provided by employers
whose healthcare programs may be established on either a for-profit or not-for-profit
status. These employers include academic medical centers, government-operated
healthcare services, privately owned genetics laboratories, and privately owned
healthcare practices. Funding of services is dependent on a variety of factors that are
related to the client’s financial and insurance status, and also on the fiscal basis of the
service. Commonly, a person is referred for genetic services by his or her healthcare
provider, but in some locations clients may self-refer.
A client who wishes to have a genetic assessment or genetic counseling from a
specialist may receive these services in tertiary-care centers (such as major medical
centers) that are owned either by academic institutions or private companies. One
example is the care provided in a medical genetics clinic in a university-owned hospital,
in which board-certified or credentialed genetic counselors, and also advanced practice
 Introduction to genetic healthcare 5

genetics nurses, undertake practice. Genetic services are also provided in healthcare
practices that focus on one aspect of health, such as cancer or prenatal care, for those
whose need for service lies within that specific category (e.g. oncology services or
reproductive healthcare).
Professional organizations define guidelines for practice as a genetics specialist and
maintain responsibility for administering credentialing programs for genetics specialists.
Registered nurses, genetic counselors and medical doctors can qualify to become certified
or to be credentialed as genetics specialists in their own profession. Some states in the
USA have, or are considering passing legislation to institute, state licensing rules and
regulations for genetic counselors.

The professional role of the genetics nurse and the genetic counselor
Genetics nurses and genetic counselors share a common mission of providing genetic
healthcare to individuals, families and communities. These roles encompass individual
client healthcare, advocacy for individuals and their families, membership in multi-
disciplinary healthcare systems, participation in program management and evaluation,
and involvement in clinical genetics-focused research. Although the scope of genetic
healthcare roles can be quite broad, documents that describe the roles of genetics nurses
and genetic counselors specifically describe the clinical aspects of genetics nursing or
genetic counseling practice. In many countries, such as the UK, the work is undertaken in
a genetic center by persons of either a genetics nursing or genetic counseling background.
However, in some areas of the USA, there is greater differentiation in the roles.
In the USA, the professional role of the genetics nurse is defined by the scope of
practice of genetics nursing (ISONG, 1998) and the regulations defining nursing practice
in state professional licensure rules and regulations. The professional role of the genetic
counselor is based on the counselor’s education, certification as a genetic counselor, and,
to some degree, expectations in the genetic counselors’ employment setting. In those
states that have genetic counseling licensure rules and regulations, the scope of practice is
defined by the licensure rules and regulations.
In 1998, The Genetic Nursing Credentialing Commission (GNCC) was established by
members of the International Society of Nurses in Genetics for the purpose of
establishing and providing credentialing of genetics nurses (Cook et al., 2003). The
GNCC developed criteria for credentialing of nurses at either the Genetics Clinical Nurse
(GCN) or the Advanced Practice Nurse in Genetics (APNG) level. Each credential is
awarded on successful completion of review of a portfolio that contains evidence of
completion of requirements in education and practice in the nurse’s area of genetic
expertise.
Genetics nurses are licensed professional nurses that have had special education and
training in genetics. The professional role of the genetics nurse has its foundation in
nursing, and is based on theories of nursing, genetic biology, behavioral and medical
sciences (ISONG, 1998). Application of this knowledge throughout the processes of
assessment, identification of outcomes of care, interventions and evaluation is the
responsibility of the genetics nurse. Specific aspects of genetics nursing practice are
defined in the GNC and APNG credentialing process (Box 1.2). Nurses may participate
 Applied genetics in healthcare 6

in the administration and monitoring of therapeutics as specified by their professional

nursing license (Greco and Mahon, 2003; ISONG, 1998).
The National Society of Genetic Counselors (NSGC) defines a genetic counselor as a
healthcare professional who has a specialized graduate degree and experience in the areas
of medical genetics and counseling (Box 1.3). Genetic counselors enter the field from a
variety of disciplines, including biology, genetics, nursing, psychology, public health, and
social work, and

Box 1.2 Definition of genetics nursing practice in the USA

Aspects of genetics nursing practice defined in the GNC and APNG credentialing process
include:
• collecting and interpreting comprehensive client information, including a genetics
family history;
• deriving a diagnosis based on assessment data;
• identifying client-sensitive outcomes;
• identifying genetic risk factors;
• providing client-centered teaching;
• coordinating healthcare services;
• promoting health for client, family, and community;
• using therapeutic communication skills to foster the client’s and family’s understanding
about the genetic condition;
• providing information regarding management of health risks;
• engaging in systematized ongoing evaluation of client and family.

must graduate from an accredited master’s level program in order to qualify for
certification. Credentialing is achieved through successful completion of a credentialing
examination, administered by the American Board of Genetic Counseling (ABGC).
Beginning with certificates issued in 1996, certification of genetic counselors was limited
to a 10-year period and a recertification program has been developed (American Board of
Genetic Counseling, 2003).

Box 1.3 NSGC definition of the role of a genetic counselor

The NSGC definition states that genetic counselors work as members of a healthcare
team with families in which a child has been born with a birth defect or whose members
are at risk of a genetic condition, to:
• provide information and support to families;
• identify families at risk;
• investigate the problem present in the family;
• interpret information about the disorder;
• analyze inheritance patterns and risks of recurrence;
• review available options with the family;
 Introduction to genetic healthcare 7

• provide supportive counseling to families;

• serve as patient advocates;
• refer individuals and families to community or state support services;
• serve as educators and resource people for other healthcare professionals and for the
general public.

It is not within the remit of this book to discuss the practice of clinical genetics in
every country. Professional roles in the UK and USA are used as examples of practice.
Practitioners in other countries will benefit from contacting the relevant professional
associations in their own country or region. Table 1.1 details the larger professional
societies and their websites. A comprehensive list can be found at the website of the
Karolinska Insitutet (listed in ‘Further resources’ at the end of this chapter).
Table 1.1 Professional organizations and
websites
Organization Country or Website
region
Canadian Association of Canada
Genetic Counselors
American Society for USA http://genetics.faseb.org/genetics/ashg/ashgmenu.htm
Human Genetics
Association of Genetic UK http://www.agnc.co.uk/
Nurses and Counsellors
Australian Society of Australia, New No website listed
Genetic Counsellors Zealand
British Society for Human UK http://www.bshg.org.uk/
Genetics
Canadian Association of Canada http://www.cagc-accg.ca/
Genetic Counselors
Danish Society of Denmark http://www.dsmg.suite.dk/
Medical Genetics
European Society for All European http://www.eshg.org/
Human Genetics countries
Human Genetics Society Australia, New http://www.hgsa.com.au/
of Australasia Zealand
International Society of Worldwide http://www.isong.org/
Nurses in Genetics membership
Italian Society of Human Italy http://sigu.univr.it/
Genetics
Japan Society of Human Japan
Genetics