genetics in nursing

1. UNIT - I INTRODUCTION
GENETICS

2. ▶ During mid 19th Century, Gregor Mendel observed certain
features pass from parents to their children/offspring.
▶ A child usually looks like their parents and is due to
inheritance of certain characteristics from parents to children .
▶ This transmission of characteristics from parents to
children is known as heredity.
▶ The basic unit of heredity is gene, which consist of portion of
DNA molecules.
▶ The term gene was coined by Johannsen in 1909.
INTRODUCTION

4. GENETICS
▶ Geneticsis the study which deals with the
science of genes, heredity and its variations
in living organism.
▶ Gregor Mendel is the father of Genetics
▶ The term Genetics was coined by William
Bateson

5. Terminologies
GENE - The basic unit of heredity passed from
parent to child. Genes are made up of sequences of
DNA and are arranged, one after another, at specific
locations on chromosomes in the nucleus of cells.
ALLELES – is an alternative form or versions of a
gene. People inherit one allele for each autosomal
gene from each parent, and we tend to lump the
alleles into categories.
 Dominant
 Recessive
CHROMOSOMES - A structure found inside the
nucleus of a cell. A chromosome is made up of
proteins and DNA organized into genes. Each cell
normally contains 23 pairs of chromosomes.

6. Gene

7. ▶ 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.
Gene

8. Alleles

9. ▶ An allele is one of two,
or more, forms of a given
gene variant.
▶ Each allele determines
a single inherited
characteristics in an
individual.
Alleles

10. Alleles

11.  Chromosomes have many genes. Specific genes are
located at a specific place on every chromosomes
and this location is known as locus.
 An allele is one of two, or more, forms of a given gene
variant.
 Each allele determines a single inherited
characteristics in an individual.
 For example – if a gene on a particular chromosomes
codes for a characteristics such as hair color,
another gene at the same position on homologous
chromosomes also codes for hair color.
 However these two alleles need not to be identical:
one might produce red hair and the other might
produce blonde hair.
Alleles

12. TYPES OF ALLELES
 Mono Allelic – Single allele
 Di-Allelic – Two Allele
 Multiple Alleles – E.g. Blood group, hair texture, skin
color. Etc.
CATEGORIES OF ALLELES
 Alleles can be categorized as dominant and
recessive.
 Dominant alleles are those which is expressed.
 Recessive alleles are those which are unexpressed.
 Co dominant means both alleles of a gene pair exert
an observable effect and are thus equally dominant.
(E.g. AB Blood group)

13. CHROMOSOMES

15.  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.
The term chromosome comes from the Greek words
for color (chroma) and body (soma).
 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

16. PRACTICAL APPLICATIONS OF
GENETIC IN NURSING

17. ▶ Nurses came across individuals or families affected
by the genetic diseases.
▶ Nurses are a vital links between patients and health
care services.
▶ Nurses should have a basic sound knowledge of
genetics.
▶ The important role of nurses in genetic include -
Role of Nurse in Genetics

18. ▶ Interviewing patients or individuals with suspected
genetic disorders
▶ Taking a detailed clinical history along with relevant
family history (over three generations) from
patients or parents of child with genetic disorder.
▶ Refer those with genetic disorder to the concerned
doctor.
Genetic Counseling and
Interviewing

19. ▶ Provide health education related to genetics and
genetic testing.
▶ Drawing and interpreting a pedigree chart.
▶ Ability to recognize the possibility of a genetic
disorder based on the pedigree chart.
▶ Assessment of a genetic risk especially in
conjugation with genetic testing options.
Planning, Screening or Gene
Based Testing Programs

20. ▶ Follow up of positive newborn screening test.
▶ Monitoring individuals with genetic disorders
▶ Working with families under stress due to a
genetic disorder.
Monitoring
Care
▶ Developing an individualized plan of care and
services of affected patient.
▶ Participating in public education about genetics.
▶ Maintain the privacy and confidentiality of the
patients genetic information.

21. Genetic Aspect
▶ When a genetic condition is identified, it leads to stress and
shock in the individuals and his family.
▶ The nurses have a major role in counseling, reducing their
fears, getting the consent for genetic testing and arranging the
tests and offering post test advice.
About Transmission of genetic condition within families
 If an individual is identified to have a genetic condition, nurses
should educate the family members, who are likely to affected
and advice counseling and screening for them.
 Educate how genetics and environmental factors
influence health and disease.
 Nurses should be able to identify the Mendelian patterns of
inheritance of genetic conditions in families in the form of a
pedigree (family tree)
Educational Role

22. Impact of Genetic Conditions
on Families

23. Impact of Genetic Conditions on
Families
 Guilt – Parents with genetic disorder tend to feel
guilty, when they come to know that they might
have passed on a condition to a child.
 Depression – When an individual comes to know that
he/she has a genetic condition and the decision not
to have a children or decision to terminate a
pregnancy, may result in depression or loss of peace
of mind.

24. Thank you