Overview of
Genetics and
Genomics in
Nursing
Marina Gharibian Adra PhD RN
NURS 210B Spring 2021-2022
https://www.youtube.com/watch?v=LaHSMJGU
Genetic conditions are anomalies, behaviors,
diseases, or predispositions caused or
influenced by genes which may affect one’s
health or abilities and may or may not be
inherited.
Description of
Genetics/Genomics
Nursing
Genetics nursing practice includes genomics,
which encompasses all the genes in the human
genome together, including their interactions
with each other and the environment, and the
implications for health and nursing care.
Genetics nursing practice strives to be
evidence based.
Genetics vs
Genomics
Cystic fibrosis is a genetic
disease that occurs when a
child inherits two abnormal
genes, one from each
parent. It mainly affects the
digestive system and
lungs. There is ongoing
infection in the lungs, with
destruction of lungs and
loss of lung function.
Genetics:
• is a term that refers to the study of genes and their roles in inheritance in other words, the way that certain traits or conditions are passed down
from one generation to another.
• It involves scientific studies of genes and their effects. Examples of
genetic or inherited disorders include cystic fibrosis.
Genomics:
• is a more recent term that describes the study of all a person's genes (the
genome), including interactions of those genes with each other and with
the person's environment.
• Genomics includes the scientific study of complex diseases such as heart
disease, asthma, diabetes, and cancer because these diseases are
typically caused more by a combination of genetic and environmental
factors than by individual genes.
• Genomics is offering new possibilities for therapies and treatments for
some complex diseases, as well as new diagnostic methods.
Genetics and
genomics both
play roles in
health and
disease.
Genetics helps individuals and families learn
about how conditions such as sickle cell anemia
and cystic fibrosis are inherited in families,
what screening and testing options are
available, and, for some genetic conditions,
what treatments are available.
Genomics is helping researchers discover why some
people get sick from certain infections, environmental
factors, and behaviors, while others do not. For
example, there are some people who exercise their
whole lives, eat a healthy diet, have regular medical
checkups, and die of a heart attack at age 40. There are
also people who smoke, never exercise, eat unhealthy
foods and live to be 100. Genomics may hold the key to
understanding these differences.
Chromosome- DNA-Gene
DNA picture with labels

Chromosomes are
structures within cells that
contain a person’s genes.

Genes are segments of
DNA that contain the code
for a specific protein that
functions in one or more
types of cells in the body.
The DNA molecule
The DNA molecule is a long, coiled double helix that resembles
a spiral staircase. In it, two strands, composed of
sugar(deoxyribose) and phosphate molecules, are connected
by pairs of four molecules called bases, which form the steps
of the staircase.
In the steps, adenine is paired with thymine and guanine is
paired with cytosine. Each pair of bases is held together by a
hydrogen bond.
A gene consists of a sequence of bases. Sequences of three
bases code for an amino acid (amino acids are the building
blocks of proteins).
Adenine
Thymine
Guanine
cytosine
bases
The DNA contains the genetic information of life and acts as
a set of instructions for how to build and maintain you.
Each person’s DNA is unique.
DNA image 3D
DNA image 3D
Nucleic acids come in two main forms: DNA (deoxyribonucleic
acid) and RNA (ribonucleic acid).
The bases join together
with hydrogen bonds,
Pay close attention to the base pairing
between the top and bottom strand of the
DNA. The pairing follows the rules: A-T and CG.
Nucleic Acids Structure & Function
A molecule consisting of a nitrogencontaining base (adenine, guanine,
thymine, or cytosine in DNA; adenine,
guanine, uracil, or cytosine in RNA), a
phosphate group, and a sugar,
(deoxyribose in DNA; ribose in RNA).
Nucleic acids store information through the
ordering of their bases. These bases are then
read in order and eventually turned into proteins.
Nucleotides

Nucleotides are the building
blocks of DNA and RNA. They are
also essential in providing the
cellular energy sources (ATP and
GTP).
What Is
DNA's Role
in
Inheritance?
DNA contains a ton of information and is
actually very long. about six feet long (1.8
meters). This is why DNA condenses
into chromosomes to fit inside the cell.
DNA is the genetic information used to
make proteins, and it contains the
hereditary traits of organisms.
You are who you are because of your DNA;
the smallest change to it would make you a
completely different person. DNA is what
makes your dog a dog and not a wolf.
Term
Definition
Explanation
Example
Gene
A short section of
DNA
DNA polynucleotide
sequence that
contains information
to produce a protein.
DNA is organized into little
chunks, or paragraphs of
information, that each carry a
specific set of instructions for
how to make a certain aspect of
you.
This little paragraph is a short
section of DNA known as a gene.
Paragraph
Genome
An organism’s
complete set of DNA
DNA
Is a string of complex
molecules called
nucleotides.
It contains the genetic
information of life and acts as a
set of instructions for how to
build and maintain you.
Our DNA is unique, unless you’re
an identical twin.
DNA code: A set
of instructions
carefully
organized into a
paragraph.
Chromosome
A package of genes
and other bits of DNA
and proteins
Humans have 46 pairs (46
chapters, 23 from your mum, 23
from your dad) in every cell
nucleus, except reproductive
cells, which have 23 unpaired
chromosomes.
Chapters
Genome-Chromosome-DNA-Gene
The entire
manual
There
are 46 chapters in the
instruction manual of you, or 46
chromosomes in total: 23 from your
mum and 23 from your dad.
Almost
every human’s genome,
chromosomes and genes are
organized in the same way. It’s the
DNA code, the words on the page,
that are slightly different. That’s
what makes us unique.
The human genome was first sequenced in 2003.
Scientists read all the letters that make up our genome, but this
is useless if we don’t understand what it means
The human
genome
Scientists are now working on this. Piece by piece they’re
learning more about each part of our genome.
Unfortunately, understanding what each of our 23,000 genes does, and
how they interact with each other, will take some time. But doing this is
important for cancer research because if we completely understand
how we’re put together, we can work out why things go wrong. And if
we know why cells go wrong and how they turn into cancer cells, it
could give us clues on how to beat them.
Hierarchies of Genome Organization.
 The hierarchical
process by which
eukaryotic doublestranded DNA (two
meters long, in the case
of humans) is
packaged within the
cell.
 As shown
schematically in the
figure, this process
encompasses three mai
n organization levels
classified as primary,
secondary and tertiary.
Delete
Proteins are
the most
important
class of
material in the
body.
Proteins are needed to make enzymes.
Enzymes are complex proteins that control and
carry out nearly all chemical processes and
reactions within the body.
The body produces thousands of different enzymes.
Thus, the entire structure and function of the body
is governed by the types and amounts of proteins
the body synthesizes.
Protein synthesis is controlled by genes. Genes provide
the code to construct a protein.
How are the concepts of DNA, genes, proteins and the characteristics of living organisms
related?
The characteristics of organisms depend on the chemical reactions that
occur inside them.
These reactions are catalyzed by enzymes, which are highly specific
proteins.
Every protein of an organism is made from information contained in RNA
molecules, which are made according to a template based on a sequence of
nucleotides of a DNA chain.
A gene is a DNA polynucleotide sequence that contains information to
produce a protein.
Translation : The cell uses the information from RNA to make
proteins
mRNA : Messenger RNA. mRNA nucleobases act as instructions for the
cell to build polypeptides
Vocabulary
Review:
tRNA : Transfer RNA. Carries a specific amino acid to the ribosomes
to help build proteins
Codon : A group of three nucleobases that code for a specific amino
acid
Nucleic acids store information through the ordering of
their bases. These bases are then read in order and
eventually turned into proteins.
The genetic code is a series of codons that specify which amino
acids are required to make up specific proteins.
Four Levels of
Protein Structure
A protein's primary
structure is its
sequence of amino
acids.
The secondary
structure is the
shape (coiling and
bending) of the
peptide chain.
The tertiary
structure is the 3D
structure of the
polypeptide chain.
If a protein has multiple
polypeptide chains, the
way they are arranged
with respect to each
other is the quaternary
structure.
Amino acids are joined
together through a peptide
bond. The carboxyl group
of some amino acids will
bond to the amine group of
the next amino acid. This
reaction requires
a ribosome, and in this
process a water molecule is
created.

Ribosomes are highly
complex,
macromolecular
structures that fulfil
the vital role of
protein synthesis in
all living cells across
species, from
bacteria to
eukaryotes.
Each triplet of nitrogenous bases of RNA codifies
one amino acid of a protein.
How do the nucleotides
of mRNA chains encode
information for the
formation of the amino
acid's sequences of a
protein?
As these triplets appear in sequence in the RNA
molecule, sequential amino acids codified by them
are bound together to make polypeptide chains.
For example, a UUU and UUC sequence codifies
the amino acid phenylalanine
ACU, ACC, ACA and ACG sequences codify the amino acid
threonine; ATG codes for the amino acid methionine, GCT codes
for alanine, GTT codes for valine. and so on for all possible
triplet sequences and all other amino acids.
Synthesizing proteins and coding

Proteins are composed of a long chain
of amino acids linked together one after
another.

There are 20 different amino acids that
can be used in protein synthesis—some
must come from the diet (essential
amino acids), and some are made by
enzymes in the body.

Instructions for synthesizing proteins
are coded within the DNA.
How do genes direct the production of
proteins?
Is complex and tightly controlled within each cell. It consists of two major
steps: transcription and translation. Together, transcription and
translation are known as gene expression.

Transcription (occurs in the nucleus)
•
The information stored in a gene's DNA is passed to RNA in the
cell nucleus.
•
RNA that contains the information for making a protein is called
messenger RNA (mRNA) because it carries the information, or
message, from the DNA out of the nucleus into the cytoplasm.

Translation (Takes place in the cytoplasm/ribosome).
•
The mRNA interacts with a specialized complex called a ribosome,
which "reads" the sequence of mRNA nucleotides.
•
A type of RNA called transfer RNA (tRNA) assembles the protein,
one amino acid at a time.
•
Protein assembly continues until the ribosome encounters a “stop”
codon (a sequence of three nucleotides that does not code for an
amino acid).
The journey from gene to protein
Messenger
RNA
molecules
are
synthesized
within the
nucleus,
pass through
the pores of
the nuclear
membrane
and enter the
cytoplasm to
reach the
ribosomes
where
protein
synthesis
occurs.
Protein
synthesis is
translation of
genetic
information
into proteins.
Types of RNA

RNA functions to transfer genetic instructions from
the nucleus to the cytoplasm, where the information is decoded
There are 3 types of RNA
that cooperate to
complete this goal
mRNA
a transcript copy of a
gene which encodes a
specific polypeptide
Transfer RNA (tRNA) –
carries the polypeptide
subunits (amino acids) to
the organelle responsible
for synthesis (ribosome)
Ribosomal RNA (rRNA) – a
primary component of
the ribosome and is
responsible for its
catalytic activity
What is a cancer gene?
Chromosomes are formed
before cells divide. Errors
in chromosome copying
could be one of the first
few changes in a cell that
gives it the potential to
turn cancerous
When a cell divides it has to
make a copy of every DNA
molecule so it can be exactly
split between the two new
cells. We have around 3 billion
individual DNA molecules
(nucleotides) in each cell.
That’s a lot of work to carry
out error-free.
Sometimes copying mistakes
happen but the cell’s DNA
repair machinery fixes the
faulty DNA chain.
Occasionally errors happen
in genes that control a
cell’s growth and so can
lead to cancer.
People can inherit errors in
genes from their parents,
which can lead to
increased risk of cancer.
Other factors that damage
DNA, such as tobacco
smoke or alcohol, can also
create faulty genes.
Gene tests can sometimes
pick out which faulty genes
might be helping a person’s
cancer cells grow. Knowing
these specific genetic faults
can help doctors decide
which treatment is best for
a patient. This is called
personalized medicine.
Cancer is the
target of some
of the most
promising
precision
medicine
approaches
available today.

Cancer usually comes about through the gradual accumulation
of genetic changes (often called mutations) in genes that
control cell growth.

In this way, cancer is very much a disorder of the genome.

Depending on where in the body the cancer arises and the
types of genetic changes the cells accumulate, different types
of cancer can have very different genetic profiles.

These genetic profiles can be used in several ways to help
doctors choose the best treatments for each individual
patient.

By comparing the DNA from a patient's tumor to that of their
normal cells, researchers can learn how the cancer came
about and where it may be vulnerable to treatment
Precision Medicine

An emerging approach for disease treatment and prevention that takes into
account individual variability in genes, environment, and lifestyle for each
person.

A form of medicine that uses information about a person's own genes or
proteins to prevent, diagnose, or treat disease.

Genomic medicine (also known as precision medicine or personalised
medicine) uses an individual's genetic information to help guide
healthcare providers about genetic contributions to a patient's health,
susceptibility or resilience to disease, or their response to therapeutic
interventions.
Targeted cancer drugs
Targeted cancer drugs will bind to and kill
cancer cells that have a specific surface
marker (left) but not to cells that lack the
surface marker (right). Because these drugs
are concentrated near cancer cells, they
produce fewer side effects than non-targeted
drugs.
Syringe hit on a target
Precision medicine