Presentation

1. GENETIC NURSING PRACTICE
BY
DR ZULKIFLU MUS ARGUNGU
DEPARTMENT OF NURSING SCIENCES,
FACULTY OF ALLIED AND HEALTH SCIENCES
USMANU DANFODIYO UNIVERSITY, SOKOTO.
A PAPER PRESENTATION FOR THE MANDATORY CONTINUING
PROFESSIONAL DEVELOPMENT PROGRAMME
(MCPDP)

2. Preambles
 Genetics plays an increasingly important role in healthcare.
 In nursing, genetics is used to understand the biological basis of disease, to
guide the development of treatments, and to inform decisions about patient
care.
 This presentation will cover the application of genetics in nursing practice,
from the concept of genetics, basics of genetic inheritance to the ethical
issues in genetics.

3. CONCEPT OF GENETICS
The term genetics was derived from Greek word “Genetikos” which means ‘to
become’ or ‘to grow into’. Therefore, genetics is the science of “coming into being”.
 Gregor Johann Mendel (1822-1884)
 Was an Austrian monk, known as ‘father of modern genetic’.
 Does the experiment in pea plant from 1856- 1863 (7 year).
 He came up with the law of inheritance, he stated that, physical traits are
inherited as “particles”
 But he did not know that the “particles” were actually chromosomes and DNA.
 Dies as an unrecognized man. His studies remain in dark for 34 years until
rediscovery.

4. In the year 1900: three botanist from Europe realized that Mendel had studied the
heredity of specific characters as they pass from parent to offspring.

5.  The term “gene” was coined by Danish
botanist Wilhelm Johannsen in 1909, he
describe “gene” as the Mendelian units of
heredity. He also made the distinction between
the outward appearance of an individual
(phenotype) and its genetic traits (genotype)
 The word genetics was introduced in 1905 by
English biologist William Bateson, who was
one of the discoverers of Mendel's work and
who became a champion of Mendel's
principles of inheritance

6.  Gene is defined as a segment of DNA
(Deoxyribonucleic Acid) which carries the
genetic information.
 Gene is the basic physical and functional unit
of heredity
 DNA has also segment which do not contain
gene.
 The human genome contains about 30000 –
40000 genes and each gene varies in size.
Definition Terms
Gene

7. Genetic: Is the study of Heredity and Variation
of inherited character.
Heredity: tendency of offspring to resemble their
parents.
Variation: tendency of offspring to vary from
their parents.
“Genetics is the field of science that examines how
traits are passed from one generation to the next;
Blueprint of life.”
Genetic

8.  Allele: alleles are alternative form of gene which occupy
identical loci of homologous chromosome and control the
contrasting character of same trait.
 Each allele determines a single inherited features in an
individual.
 For example – if a gene on a particular chromosomes codes for
a characteristics such as hair colour, another gene at the same
position on homologous chromosomes also codes for hair
colour.
 However, these two alleles need not to be identical: one might
produce red hair and the other might produce blonde hair.
ALLELES

9. TYPES OF ALLELES
Mono Allelic – Single allele e.g eye color, ear lobe
Di-Allelic – Two Allele
Multiple Alleles – E.g. Blood group, hair texture, skin color. Etc.
CATEGORIES OF ALLELES
Dominant and Recessive allele
• Dominant allele always expresses itself.
• Recessive allele expresses only in absence of dominant allele.
• Dominant allele suppresses or mask the expression of recessive
allele.
• Dominant allele usually expressed in capital letter and recessive in
small letters.
Example: • Height (trait) has two characters (tall and short) with tall
character (T) being dominant over short (t) character

10.  The term chromosome comes from the Greek words (chroma) for
color and (soma) for body.
 Scientists gave this name to chromosomes because they are cell
structures, or bodies, that are strongly stained by some colorful
dyes used in research.
 Chromosomes are thread-like structures located inside the nucleus
of animal and plant cells. Each chromosome is made of protein
and a single molecule of deoxyribonucleic acid (DNA).
 Passed from parents to offspring, DNA contains the specific
instructions that make each type of living creature unique.
CHROMOSOMES

11.  The genotype is a way of expressing the two alleles that hold a particular gene.
 Human eye color is controlled by one gene in particular, for which there are only 2 available
alleles.
B – codes for phenotypically Brown eyes (dominant)
b – codes for phenotypically blue eyes (recessive)
 You need only 1 copy of a dominant allele for it to be expressed.
 You need 2 copies of a recessive allele for it to be expressed.
BB = Brown eyes
bb = Blue Eyes
Bb =Brown eyes
GENOTYPE

12. When one possesses identical alleles on the maternal and paternal
chromosome, this is referred to as a homozygous genotype.
e.g. BB = homozygous dominant
e.g. bb = homozygous recessive
Having two different alleles is a heterozygous genotype.
E.g. Bb = Heterozygous
The allele for Brown eyes (B) is dominant
The allele for Blue eyes (b) is recessive

13. Phenotype is the physical feature/appearance of
the organism
Phenotype is the expression of genotype.
Phehenotype= genotype + environmental factors
Example: • Height (trait) has two phenotypes
(tall and short) expressed by genotype (TT, Tt &
tt)
PHENOTYPE

14. • Homozygous: If both the member of allelic pair in
homologous chromosome are identical. e.g. tall
(TT); short (tt)
• Heterozygous: If both the member of allelic pair
in homologous chromosome are not identical. e.g.
tall (Tt)
• Hemizygous: when genes are present in only one
copy e.g. genes of X chromosome and Y
chromosome of male
Homozygous, Heterozygous and Hemizygous

15. Consanguinity: Having a common ancestor, i.e., being blood relatives. Mating
between two first cousins.
Deletion: An abnormality in which part of a chromosome (carrying genetic
material) is lost.
Gamete: A reproductive sex cell (ovum or sperm) with the haploid number (23)
of chromosomes that results from meiosis.
Genome: Term used to denote the entire DNA sequence (gene content) of a
gamete, person, population, or species.
Haploid number of chromosomes: The number of chromosomes found in sex
cells, which in humans is 23.

16.  A French term Anglo-French phrase meaning "crane foot". It was probably called
this because the branching lines of the chart look like the foot of a crane.
 Definition: The basic medical pedigree is a graphic depiction of how family
members are biologically and legally related to one another from one generation
to the next.
 This branching diagram typically starts with two parents at the top and moves
down with the following generations.
 Each family member is represented by a square (male) or a circle (female).
 They are connected to each other by relationship lines.
 Proband: The member through whom a family with genetic disorder is first
brought to attention is the proband or propositus, if affected may be called index
case.
PEDIGREE

17. Symbols used in Pedigree

18. Relationship line

19. Mendelian inheritance is a set of primary statements about the way
certain characteristics (e.g. color of hair, eye, skin etc.) are transmitted
from parent to their offspring.
Mendel Law’s of Inheritance
Law of Dominance
Law of Segregation
Law of Independent Assortment
MENDELLIAN THEORY OF INHERITENCE

20. LAW OF DOMINANCE
This law states that in a heterozygous condition,
the allele whose characters are expressed over the
other allele is called the dominant allele and the
characters of this dominant allele are called
dominant characters.
The characters that appear in the F1 generation are
called as dominant characters. The recessive
characters appear in the F2 generation.
.

21. LAW OF SEGREGATION
 Mendel stated that the genes normally occurs in pairs in
ordinary cells of the body and each one is derived from each
parent.
 During the formation of gametes (sex cells) the two co-
existing copies of a gene separates (segregate) from each
other.
 The resultant gamete (sperm or oocyte) receives only one of
the two alleles present in the parent.
 These alleles may behave as dominant or recessive characters.
 The law of segregation states that every individual has two
alleles of each gene and when gametes are produced, each
gamete receives one of these alleles.

22.  It says that during gamete production, genes for
different traits segregate independently of each
other.
 This means that offspring can have combinations of
traits that are different from either of their parents'.
 Independent assortment gives a chance for new trait
combinations to show up that could be more fit.
 This law also says that at the time of gamete and
zygote formation, the genes are independently passed
on from the parents to the offspring.
LAW OF INDEPENDENT ASSORTMENT

23. COMMON GENETIC DISORDERS
Most people have the concept that genetic disease must be the one which is transmitted from
one generation to next. Actually this is not totally correct.
• Gaucher Disorder
• Huntington’s Disorder
• Hemophilia
• Parkinson’s Disorder
• Sickle Cell Anemia
• Cystic Fibrosis
• Down Syndrome
• Alzheimer’s Disorder
• Thalassemia
• Tay-Sachs Disorder

24. HUNGTINGTON’S DISEASE (HD)
• It results from genetically programmed
degeneration of nerve cells in certain areas of the
brain
• This degeneration causes uncontrolled
movements , loss of intellectual faculties,
emotional disturbance.
• The Symptoms of this disease are; Mood
Swings, irritability , depression, loss of memory
and uncontrolled movements

25.  Down syndrome is a genetic condition that occurs when
there is an extra copy of a specific chromosome
(chromosome 21).
 Down syndrome occurs when some or all of a person’s
cells have an extra full or partial copy of chromosome
21.
 Mothers older than 35 are more likely to give birth to a
child with Down syndrome.
 In most cases, Down syndrome is not inherited and does
not run in families. Though Down syndrome comes from
the genes themselves, this is generally due to errors
between a sperm and an egg, when the genetic
information that forms a child first combines and copies.
DOWN SYNDROME

26. Klinefelter’s syndrome also known as the XXY
condition, is a term used to males who have an
extra X- chromosome in most of their cells.
Turner’s syndrome is a chromosomal condition
related to the X-chromosome that alters
development in females. It leads to infertility,
webbed neck, skeletal abnormalities, heart
defects and kidney problems
Form of down syndrome;

27.  Parkinson’s disease is a neurological condition that
has a genetic component next to Alzheimer’s.
 The chances of getting developing Parkinson’s gets
higher as age increases.
 Parkinson occur due decrease in DOPAMINE
chemical produced in the middle part of the brain that
is responsible for organizing coordinated movements
and to send this signal to the control centers of the
brain.
PARKINSON’S DISEASE

28. PRACTICAL APPLICATIONS OF GENETIC IN NURSING

29.  All nurses have role in the delivery of genetic services &
management of genetic information.
 Nurses require genetic knowledge to identify, support, refer &
care for persons affected by or risk for genetic disorders.
 Nurses can offer care that protects patients & families from
the risk associated with genetic information, including
addressing family issues.
 Nurses are also needed to refer patients to genetic specialist &
assist in making choice of genetic health care.

30. Genetic Nursing includes the following
 Client & family assessment to identify genetic risk factors. (Eg: detailed family
history & construct a pedigree)
 Planning & implementation of care during diagnosis & management of genetic
disorders.
 Information, counseling & support services to persons affected by or at risk for
genetic disorders.
 Meeting referral needs
 Long term follow up.

31. 1.Understands genetic basis of disease
2.Early diagnosis of genetic disorders.
3.Contributes towards health promotion with genetic aspects
4.Prevention of genetic conditions
5.Management and care in genetic disorders
6.Genetic information & counseling.
7.Referral services
8.Social & ethical issues in genetics
Major Practical Applications of Genetic in Nursing

32. With knowledge of genetics, nurses will understand that large proportion of
total disease have genetic basis.
In addition will learn about:
 Role of genes in causation of genetic disorders & defects.
 Normal & abnormal cell division & its genetic regulation.
 Mechanism of disease inheritance from generation to next generation.
 Genetic factors are playing role in an individual’s health.
 Basic mechanisms of inheritance & transmission of chromosomes &
genes.
 Genetic education can also help nurses to understand the ethical and
legal issues related to genetic testing and research.
1. Understands genetic basis of disease

33. Genetic knowledge of nurses will equip them with;
Information about genetic risk, genetic testing & the
implications.
Interpretation of the results of genetic tests.
Awareness of the possibility of an inherited or genetic
component for a client condition and knowledge of cardinal
features of familial predisposition
2. Early & effective diagnosis of genetic disorders

34. Learning about genetics nurses will enhance their understanding
about:
How genetics &environment interacts with individual difference.
Healthy prenatal environment will ensure minimal risk of genetic
defects among new borns.
Environmental interaction of an individual is an important factor
in reference to gene or chromosomal mutation, which may have
positive or negative impact on health of an individual
3. Contributes towards health promotion with genetic aspects

35. Several genetic disorders can be prevented with prompt & early
diagnosis & treatment.
For example, phenylketonuria (PKU) related mental retardation
could be prevented with early new born screening & diagnosis
& diet management.
The genetic disorders can be prevented by selected interventions.
4. Prevention of Genetic Condition

36. Knowledge of genetics will empower the nurses to manage & care for
patients with genetic disorders in their routine health care practice by
building up their understanding about;
Genetic approaches to the therapy of genetic & complex diseases.
Care management of adults with childhood genetic disorders
Care management of persons with adult genetic disorders such as
Huntington disease.
Ways in which genetic knowledge is used in diagnosis & treatment
application
5. Management & care in genetic disorders

37.  Development of non-judgmental attitudes about genetic disorders.
 What information needs to be collected before providing genetic
counselling.
 Role of a nurse in delivering genetic counselling.
 Application of traditional nursing skills such as patient education,
confidentiality, & counselling about genetic information.
 The concept of non-directive counselling can be included.
6. Genetic Information & Counselling

38. Genetic Counseling
 Genetic counseling is an important part of genetics in nursing.
 Genetic counselors are specially trained to provide information
and support to patients and families who are considering genetic
testing.
 They help patients understand the risks and benefits of genetic
testing, and provide emotional support and guidance.
 Genetic counselors also help patients and families understand the
results of genetic tests and make informed decisions about their
health care.
 They can provide resources and referrals to other health care
professionals and support groups.

39.  In developing countries, there is less awareness about genetic
disorders & Genetic health care facilities.
 Nurses are the primary health care providers who can direct them to
right place for their diagnosis & management.
 So that, genetic information will equip nurses to provide effective
referral services to the clients
7. Referral Services

40.  There are several social & ethical issues, which play important role in care of
patients with genetic disorders.
 Therefore, study of genetics will make nurses to build;
 An awareness of social, legal, & ethical issues related to genetics, including
effects on individuals, groups and societies, some of which are unique to
genetic conditions
8. Social & Ethical Issues in Genetics

41. Ethical Considerations
 The use of genetics in healthcare raises important ethical considerations.
Nurses must be aware of the potential risks and benefits of genetic testing
and the implications for patient autonomy and privacy.
 Nurses must also be aware of the potential for discrimination based on
genetic information, and must ensure that their patients are treated with
respect and dignity.

42. Conclusion
Genetics is an essential part of nursing practice, and nurses must be aware
of the basics of genetic inheritance, the latest technologies in genetic
testing, and the ethical considerations involved.
By understanding the application of genetics in nursing practice, nurses can
provide the best possible care for their patients.

43. REFERENCE
1. BRAV KAUR,RAWAT.H.C.TEXTBOOK OF ADVANCEDNURSING PRACTICE.NEWDELHI;JAYPEE
BROTHERS MEDICAL PUBLISHERS ;2015.
2. SONISAMTA .TEXTBOOK OF ADVANCED NURSING PRACTICE.NEWDELHI;JAYPEE;2014.
3. BASHEER P,KHAN Y.A CONCISE TEXTBOOK OF ADVANCED NURSING
PRACTICE.BANGALORE;EMMESS;2013
4. BACHMAN JW. GENETIC DISORDERS. INFAMILY MEDICINE 2003 (PP. 141-148). SPRINGER,
NEW YORK, NY
5. FRAZIER L, MEININGER J, LEA DH, BOERWINKLE E. GENETIC DISCOVERIES AND NURSING
IMPLICATIONS FOR COMPLEX DISEASE PREVENTION AND MANAGEMENT. JOURNAL OF
PROFESSIONAL NURSING. 2004 JUL 1;20(4):222-9.