This document provides definitions for genetic terms and discusses the practical applications of genetics in nursing. It defines key terms like DNA, genes, alleles, and more. It then discusses how genetics knowledge helps nurses to understand disease basis, enable early diagnosis, contribute to health promotion, prevent genetic conditions, manage genetic care and counseling, provide referrals, and address social/ethical issues. Nurses need genetics training to identify, support, refer and care for people with genetic disorders or risk.

1. Applications
Of
Genetics
In
Nursing Practice

2. Genetics- Glossary
“ Genetics is that branch of biological
sciences which deals with the transmission of
characteristics from parent to off spring.”
“Genetics is the field of science that
examines how traits are passed from one
generation to the next; Blueprint of life.”

3.  Allele: An alternative form of a gene that occurs at the same
locus on homologous chromosomes, e.g., A, B, and O genes
are alleles.
 Amorph: A silent gene that does not produce a detectable
product (antigen), e.g., O genes in the ABO BGS.
 Autosome: A non-sex chromosome. Synonymous
with somatic chromosomes (chromosome pairs 1-22).
 Chromosome: Rod-shaped structures within the cell nucleus
that carry genes encoded by DNA.
 Codon: A sequence of three bases in DNA or RNA that codes
for a single amino acid. Enables specific proteins to be made
by specific genes.

4.  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.
 DNA: Deoxyribonucleic acid. Composed of nucleic acids,
these molecules encode the genes that allow genetic
information to be passed to offspring.
 DNA polymerases: Enzymes that can synthesize new DNA
strands using previously synthesized DNA (or RNA) as a
template.
 Dominant gene: A gene is dominant if it is expressed when
heterozygous but its allele is not

5.  Gamete: A reproductive sex cell (ovum or sperm) with the
haploid number (23) of chromosomes that results from
meiosis.
 Gene: A segment of a DNA molecule that codes for the
synthesis of a single polypeptide.
 Genome: Term used to denote the entire DNA sequence
(gene content) of a gamete, person, population, or species.
 Genotype: All of the alleles present at the locus (or closely
linked loci) of a blood group system, indicating chromosomal
alignment if appropriate
 Haploid number of chromosomes: The number of
chromosomes found in sex cells, which in humans is 23.

6.  Human Genome Project: A worldwide project to map and
sequence the human genome. The ultimate goal is to produce
the complete nucleotide sequence of every human
chromosome.
 Meiosis: The type of cell division that occurs in sex cells by
which gametes having the haploid number of chromosomes
are produced from diploid cells.
 Messenger RNA (mRNA): Type of RNA polymerase using
DNA as a template. Contains the codons that encompass the
genetic codes to be translated into protein.
 Mitosis: Cell division that results in the formation of two
cells, each with the same number of chromosomes as the
parent cells, i.e., cell division that forms all new cells except
sex cells.

7.  Mutation: A permanent inheritable change in a single gene
(point mutation) that results in the existence of two or more
alleles occurring
 Phenotype: The antigens (traits) that result from those genes
that are directly expressed (can be directly antigen typed), at
the same locus.
 Polypeptides: Polymers of amino acids that form the building
blocks of proteins.
 Recombinant DNA: In molecular genetics, artificially made
DNA composed of fragments of DNA from different
chromosomes (often from different species) that have been
joined together (spliced) by genetic engineering.

8.  Transcription: Synthesis of single-stranded RNA by RNA
polymerase using DNA as a template
 Translation: The process of translating the codon sequence in
mRNA into polypeptides with the help of tRNA and
ribosomes.
 X-chromosome: The sex chromosome present in double dose
in females (XX) and in single dose in males (XY).
 X-linked: Genes on the X chromosome, e.g., genes for
hemophilia A, hemophilia B, and Xga blood group genes.
 Y-chromosome: The sex chromosome present only in males
(XY).

9. Practical Application of Genetics in Nursing
 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.

10. 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.

11. Major Practical Applications of Genetic in Nursing
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

12. 1. Understands genetic basis of disease
 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,

13. 2. Early & effective diagnosis of genetic disorders
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

14. 3. Contributes towards health promotion with genetic aspects
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 newborns.
 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.

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

16. 5. Management & care in genetic disorders
 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

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

18. 7. Referral Services
 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.

19. 8. Social & Ethical Issues in Genetics
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.

20. THANK YOU