Criterion D implications of genetic variation within and between human populations

Omar Mahmoud, MYP5B

DECEMBER 19, 2023

BIOLOGY
Supervised by: Nashwa Kafafy
Name: Omar Mahmoud Hussein
Class: MYP5B
Subject: Biology
Task: Criterion D Impacts of Nature VS. Nurture Regard to
human behavior
Unit: Story of the life
Key Concept: Relationships
Global context: Orientation in space and time
Statement of Inquiry: Exchange and interaction between
patterns leads to evolution in the relationships
Date: 30/11/2023
Due Date: 19/12/2023
Supervised by: Mrs. Nashwa Kafafi
Table of contents:
1- Cover page Page number 1-2
2- Table of contents Page number 3
3- Introduction Page number 4
4- Real life problem Page number 4-5-
6
5- Definition of genetic variation Page number 6-7
6- Reasons behind genetic Page number 7-8-
variation 9
7- Types of Genetic Variation Page number 9-
10-11
8- Pros and cons of genetic Page number 11-
variation among humans 12-13
9- Solutions of the real-life Page number 14-
problem 15
10- Impact of solution Page number 16-
17-18
11- My point about implications of Page number 18
genetic variation within and
between human populations
Introduction:
Genetic variation along human populations is a captivating mosaic,
implicated by evolution threads, migration and adaptation. This
diversity isn’t the only testament for our races but it provides deep
implications along scientific, medical and societal fields. Discovering
the complicated patterns along genetic diversity and revealing the
intricates of personal health, and the connection between genes
and environment with forces driving genetic variety, from natural
distribution to migration, designing genetic system, which effect on
the susceptibility of diseases and treatments and effecting on
cultural identity, races implications, and ethnicity with
multidisciplinary discovering, diving into biology, medicines and
ethnics with deep scientific understanding in guiding responsible
actions and revealing the necessity of defining our unique
characteristics inside a journey of genetic variation implication and
how the diversity is shared among human and produce our
differences and how it implicate on the social and medical
circumstances on different races and ethnics.

Real life problem:

Alastair McCausland an Australian, a 42-year-old marketing
professional noticed a small pimple on his face and thought it
wasn’t a problem in 2017 and along the time he noticed it and then
afterwards he was diagnosed by basal cell carcinoma one shape of
the skin cancer. However, this man survived from the cancer
through God and medication which made him survive by the
chemotherapy drugs he took through a vein with intravenous (IV)
infusion by including treatments as cisplatin, 5-fluorouracil and
doxorubicin at the opposite side about 17,520 human dies annually
in United State due to basal cell and squamous cell skin cancer at
minimum as in United States 3.3 million people were treated from
cancer in the past 10 years, which have the same condition of
Alastair treatment and time of diagnosis so, why did they die and
why did Alastair survive through the same medication that other the
answer is genetic variation.
Response to drugs differs due to genetic variation:
Genetic variations among individuals can mainly implicate the body
reaction for medications and its metabolism, leading to variations in
drug efficiency, safety and possible side effects as this field called
pharmacogenomics discovers the individual’s genetic makeup
effects the response for drugs, and due to genetic variation
complexities, it is difficult to estimate the efficiency and the
response of the body to certain medications and managing it
through various populations. As it effected by many factors
collaborating in these medical challenges as metabolic enzymes and
transporters as genetic variations along drug-metabolizing enzymes
or cytochrome P450 enzymes and drug transporters which impact
the rate that drugs are absorbed, metabolized and distributed
(ADME processes). Variations lead to rapid metabolism, decreased
efficiency or increased toxicity of specific drugs. Secondly, the drug
receptor or targets could affect the response to drugs as
polymorphisms in receptors for neurotransmitters or hormones
implicating the efficiency of psychiatric treatments or hormonal
therapies. Thirdly, individualized drug metabolism and response of
the drug metabolism with different dosages, various therapeutic
effects, complicated standardization of drug medications. Fourthly,
adverse drug reactions which are the response of the individuals’
body to the drugs by being susceptible for toxicity or side effects by
the medicine and finally, interactions with other multiple
medications, and responding to it, understanding potential
interactions along drugs with genetic factors, considering genetic
factors, becoming essential to provide adverse impacts or
therapeutic failure as the Warfarin and CYP2C9/VKORC1 variants, as
Warfarin is an anticoagulant, with variable responses affected by
genetic variations in CYP2C9 and VKORC1 genes, which could
increase the required lower or higher doses, variants in CYP2C9 and
VKORC1 genes, studies suggests that 55% of variability in warfarin
doses qualifications depend on genetic factors, Clopidogrel which is
an antiplatelet drug and activated by the CYP2C19 enzyme, which
was stated by the “Journal of the American Medical Association” in
2010 that 30% of patients have decreased functions of CYP2C19
alleles and in the case of the reduction of the enzyme might lead to
decrease the efficiency of the drug and could increase the
cardiovascular events in specific individuals, codeine and CY2D6
Variants which is metabolized into an active form (morphine) by
CY2D6 enzyme which could increase opioid toxicity which according
to the Clinical Pharmacogenetics Implementation Consortium (CPIC)
predicts that 5-10% from the population have poor phenotype of
that enzyme implicating the response for codeine drugs and the
CYP2C19/CYP2D6 enzymes could impact metabolism of
antidepressants, influencing drug levels in the body with side effect
profiles these are some enzymes which effect on the body response
for drug therapy. In addition to its clinical implementation
challenges by information required to pose challenges, standardized
testing, physician education and analyzing genetic data, in addition,
to population diversity, variations in drug response aren’t uniform
along populations diversity and the diversity of their response for
drugs and treatments, and finally, ethical considerations challenges,
which is related to the pharmacogenomic testing to ensure
equitable advantages for various populations. One small example is
the cancer chemotherapy which began in 1940s but unfortunately
people with same tumors didn’t respond to the drug treatment
identically, which are tried to be solved since 1950s, which was
being to be improved by vitro assays then the stem cell assay and
its chemosensitivity testing. However, the genetic variation is one
of the essentialities in our life and has many advantages but in
relation to receptors and response for treatments and doses it
became a hazardous issue which depend on the luck of the patient
got by random heritage of specific enzymes quantity inside the body
from both parents.
(Why do people respond differently to the same drug?, 2020) (WT., 1992) (Victoria
Masterson- Ian Shine, 2023) (Understanding Cancer Prognosis, 2019)
(Alastair McCausland, n.d.) (Key Statistics for Basal and Squamous Cell Skin
Cancers, 2023)
Definition of genetic variation:
Genetic variation is a term used in describing DNA sequence
variation in our genomes as genetic variation is the thing that forms
our differences and makes us unique as in physical terms as hair
color, skin color and even our faces shape. However, the genetic
variation as the variation in characteristics between species which
have the same traits between, they’ aren’t identical as it happens
due to subtle variations in DNA, as Single Nucleotide polymorphisms
(SNPs) is the common type of genetic variation in humans, which
presents the different in one DNA base, (human have 4 bases),
Cytosine, Guanine, Adenine, and Thymine in human’s DNA as they
could happen at least at once in every 300 bases and mainly found
in DNA between genes. Genetic variation results in forming alleles
which are the different shapes of the same trait as people with
brown eyes have one eye color allele and blue eyes people have
different allele of gene, as eye color, skin tone and face shape are
mainly known by variation which happens because of the inherited
genes from our parents even weight, as our genetics is implicated
by our nurture as exercising and eating practices. Genetic variation
forms explanation for some differences in disease susceptibility and
reaction to drugs. Genetic variation is essential in evolution which
depends on genetic variation which passes down from one
generation into the followed one, with favored characteristics which
are selected for survival which is the natural selection. As genetic
variation occurs in reproductive and somatic cells. In addition, one
of the sources of genetic variation are recombination or crossing
over reaction between the gamete’s chromosomes’ which is the
mixture of genetic material through our parents as this mixture
happens when homologous DNA strands align and cross over which
changes the DNA and mix the paternal and maternal DNA forming
new variation in the daughter cell. In addition to genetic mutations
which change information inside the genetic material, and change
DNA sequence, single mutation could have huge effect but many
others mutations could result having smaller effects. Secondly, the
genetic flow which movement of genetic material from single
population to another through migration which causes the ethnics
combination and finally, sex which could represents gene
combinations, as genetic shuffling is another genetic variation
source. Combination of genes between parents to form the gene of
the individual or the genotype as called from biologists which is
processed for a trait determines the phenotype of the person as to
have straight or curly or wavy hair depending on his parents’ alleles
and genotype combined from them which causes genetic variation.
(What is genetic variation?, 2021) (Genetic variation, 2020) (What is genetic variation,
n.d.)

Reasons behind genetic variation:

Genetic variation happens due to DNA mutation, genetic flow
(Movement of genes between different population) and sexual
reproduction. Because of the fact which environments are unstable,
populations which are genetically variable will have the ability to
adapt the changing cases better than people that don’t contain
genetic variation.
 DNA mutation: Mutation is DNA sequence change as gene
patterns variety could be a benefit for organisms as mutations
happen to produce characteristics which confer neither
advantage and disadvantage. Mutations reveal genetic variation
by changing genes and alleles of the population, which could
impact the individual gene. As well mutations could change the
genotype of the organism’s which could change its phenotype in
some cases.
 Gene flow “Gene migration” (Inbreeding): Gene flow recombine
different genes from different population into the individuals
between migrants and natives. New gene introduces new alleles
in the organisms inside the population by altering gene
frequencies altered by migration, however, immigration could
help organisms for better adaptation for environmental
situations as it helps in increasing the genetic diversity. Note:
Migration is the movement of organisms from one location to
another or in or out a specific population in the term of genetics.
As the genetic diversity will occur due to the mating between the
migrant and native allele to help in producing gametes carrying
 both proportion of the destination parent and the native parent
through reproduction.
 Sexual reproduction “Crossing over\ recombination”: Sexual
reproduction provides genetic variation by production of various
gene combinations. Meiosis is an operation when sex cells or
gametes are innovated as genetic variation happen through
sexual reproduction as alleles in gametes are separated and
recombined randomly during fertilization. As crossing over help
in this recombination by swapping gene parts in homologous
chromosomes during meiosis. As genetic variation results sexual
reproduction and creation of new combinations of genes,
recombination or crossing over reaction between the gamete’s
chromosomes’ which is the mixture of genetic material through
our parents as this mixture happens when homologous DNA
strands align and cross over which changes the DNA and mix the
paternal and maternal DNA forming new variation in the
daughter cell.
 Mating patterns: As population interbreeds nonrandom mating
with an organism based on specific traits and by this choice
shape genetic mixture which appear in successive generations
which makes mating patterns in specific population no longer
random. Non random mating has two forms which are inbreeding
which is the mating of individuals with similar genotypes are
likely to mate than individuals with various genotypes which
causes lack of genetic diversity. The second form is outbreeding
which is that people with specific traits are likely to mate
individuals with another genotype which causes genetic
variation increasing.
 Genetic drift by random forces: It is the change of allele
frequency between a population by increasing or decreasing it
over time as in small population in alleles facing loss chance as
the genetic drift will continue until the gene allele is loss which
decreases genetic diversity. Genetic drift happens due to facing
population bottleneck which increases as a number of individuals
die in a population and other prevented from mating which
decreases population size which causes loss of rare alleles and
decreasing size of gene pool as genetic drift could differs new
population from the original population which cause rising of
genetic diversity in this cause and lead to evolution of new gene
alleles.
 Distribution: Depending on the distribution of a certain allele
between specific regions which have different frequency of a
 certain allele which cause genetic variation preservation in large
populations with wide areas and decreases genetic diversity
through mating of individuals from the same allele distribution in
the same country.
(Bailey, 2019) (Brown, 2023) (The Genetic Variation in a Population Is Caused by
Multiple Factors, n.d.) (Gerome Breen, Michael R. Barnes, 2010)

Types of Genetic Variation:

1. Single Nucleotide Polymorphisms\variants (SNPs\SNVs):
SNPs include replacement of a single nucleotide in the DNA pattern
with common varieties which collaborate in genetic diversity and
could impact on trait and disease susceptibility with classifying the
effect they have on the production of protein from altered gene, the
SNP frequency differs between populations and if SNV occur while
protein coding this might result nucleotide substitution which
doesn’t result the change in amino acid (synonymous change) which
is possible due to multiple codons (three nucleotides
complementary sets) code for amino acids, but sometimes
nucleotide substitution leads to the amino acid substitution which
may not happen in a pathogenic variant relying on the effect of
amino acid substitution on protein construction and function which
is known as nonsynonymous change or the missense variant
(mutation) as nucleotide substitution causes a stop codon and
premature fracture of the protein with considering non-functional
protein which is called a stop gain change or nonsense variant, as it
doesn’t alter the DNA sequence but it stop its construction which
results a shortened protein with improper or nonfunctioning protein
but missense only alter the protein function. SNPs has two types
which are Transition which is the change of purine (Adenine/
Guanine) or pyrimidine (Cytosine/ Thymine) nucleic acids and
secondly, the Transversion is the interchange of the purine and
pyrimidine sequence.
2. Epigenetic modifications:
Epigenetic variations for instance, DNA methylation and histone
modification, don’t worry DNA patterns but implicate gene
expression and collaborate in phenotypic diversity and could be
effected by environmental conditions.
3. Mitochondrial DNA variations:
Variations in DNA mitochondrial (mtDNA) collaborate in genetic
diversity as mtDNA is inherited maternally with its own variations
which play a role in genetic diversity along individuals as it
decreases between family siblings and increases along population.
4. Structural variations:
Huge genomic scale rearrangements which involve inversions,
duplications or translocations of specific chromosomal segments
could happen and collaborate in genetic diversity along populations
with large DNA sequence (more than 50 base pairs “except in some
cases in indel”) which is a category of genetic variation in copied
number variation and chromosomal reconsideration actions,
through duplication, deletion, insertion, inversion, translocation or
even their combinations, as:
 Copy Number Variations (CNVs): CNVs is cause of replication or
deletion or large DNA segments, effect on number of copies of a
specific gene with DNA. CNVs can impact on gene expression and
rise genetic diversity.
 Inversions and translocations: Inversions reveals reversal DNA
segment and changing one or more of its nucleotides in the
reversed version, but translocations include the displacement
between genetic material between non-homologous
chromosomes as structural variations might reveal genetic
diversity and cause evolutionary importance.
 Insertions and deletions: “Indels” Indels is the insertion of one or
more nucleotide in a gene or deletion of nucleotide bases which
cause genetic shifts in the DNA pattern with variation effecting
on gene functionating, however, deletion could be large scaled
for a whole gene deletion or small for a few nucleotides removed,
in addition, both indels alters protein function, the insertion or
deletion happens in small length of DNA “less than 50 base
pairs” which is inserted or deleted from the genome. As in
 translation, mRNA pattern is read inside categories of three
bases (codons), with a complementary codon in corresponding
specific amino acid, however, if the length of the indel (inserted
or deleted) is not a three multiple as there is a loss or addition of
nucleotides which shifts and changes the downstream of amino
acids this will result a frameshift which change the reading frame
along all the reminder bases causing the rest of gene to be
incorrectly translated which might impact on translation
production and causing the decay of the mRNA. The indels to
cause genetic diversity must happen in one time and location in
the gene to cause the removing of one or more nucleotides and
insert the same number of nucleotides, but the change must be
complicated to differ from the SNPs.

 Tandem repeats “Duplication” “Repeat expansion”: Tandem

repeats include repetition of short DNA patterns in close
proximity, the variety of number of repetitions might impact gene
functioning and collaborate in genetic diversity as one or more
nucleotides is copied next to the original DNA sequence.
Structural variations could affect in number of cases as polycystic
kidney disease, cardiomyopathies, amyotrophic lateral sclerosis
(ALS) and some cases of disabilities as all of them may alter protein
functions. (Duplication- single insertion- single deletion is
considered frameshift variants in non-multiple 3 bases)
(Types of genetic variation, n.d.) (What kinds of gene variants are possible?, 2021)
(Genomics explainer: types of genetic variants, n.d.)

Pros and cons of genetic variation among humans:

Genetic variation has many pros and cons which are:

Advantages:
A. Adaptation to changing environments: Genetic variation able
populations to adapt to vary and dynamic environments by
processes as natural selection, favored genetic alleles become
more spread over generations, implicating the ability of the
species to survive and thrive in various ecological and
geographical niches with tolerate environmental challenges, to
help the people in different regions endure their environment
better as the big nose for South-Africans that help them to get
the biggest amount of oxygen due to the moisture increased in
South Africa region at all.
B. Disease resistance: Genetic diversity along population could lead
to resistance against disease by heterogeneity in immune
response and genetic constructions meaning that even in the
face of emerging pathogens, with individuals likely to posses’
immunity or resistance, collaborating in overall health and
resilience of population against diseases, which lead to long-term
survival and adaptability of the population
C. Immune system diversity: Genetic diversity collaborates in
different immune responses, decreasing the risk of widespread
susceptibility to disorders. Different people have immune system
mechanisms, increasing overall resistance to different pathogens.
D. Cultural and Phenotypic diversity: Genetic variation is a driver of
cultural and phenotypic diversity along people populations. This
 variety is reflected in phenotypic appearances as color, hair type
and cultural practices and traditions.
E. Historical migration and diversity: Human genetic variation is
caused by migration patterns through genetic flow which could
help in understanding the migratory history of populations,
offering a glimpse of connections of various human categories.
F. Species survival and evolution: Genetic variation Led to long-term
survival and evolution of species which could lead to survival of
organism and its aiding, with increasing the tolerance of specific
ethnics to specific disease than other organisms of typical
species as the various organism survives.

G. Survival advantages through natural selection: Natural selection

happening due to genetic variation could lead to the survival and
the continuous of the favored traits over the others as diseases,
disorders, and flaws which help in increasing the tolerance and
help in making the human live longer and increase reproduction
probability and passing on its genetic material to have desired
characteristics.
H. Decreasing inbreeding: As genetic variation decreases
inbreeding, inbreeding which depends on not introducing genetic
diversity in the species as it eliminates inbreeding consequences
on overall health as fertility rates, genetic disorders, and
resilience to diseases and higher risks and susceptibility for
diseases.
I. Innovative traits: Special combinations of genetic traits might
lead to the appearance of new characteristics and nurture of
humans, with creativity among humans as an example is the eye
color and hair style unique shapes as the green eye allele for
example, however, these innovative traits help in the variety of
our physical appearances and adaptation to environment.

Disadvantages:
a) Genetic diseases and disorders: Genetic variation collaborates
into the occurrence of inherited genetic diseases and disorders as
some individuals could carry mutations which rise the risk of
cases for instance, cystic fibrosis, sickle cell anemia, or
Huntington’s disorder.
b) Population-specific health risks: Specific populations could
exhibit increased susceptibility to certain health risks because of
their genetic makeup. For instance, some races could have arisen
risk of specific types of cancer or metabolic diseases.
c) Reproductive challenges: Genetic variation might lead to
reproductive challenges, involving infertility or the arisen worry
of miscarriage. In specific conditions, certain genetic diversity
might effect on fertility and reproductive results.
d) Ethnic health tolerances: Genetic diversity collaborate for races
health disparities, impact the prevalence and severity of specific
diseases along different population categories which must be
understood to develop targeted medical interventions.
e) Difficulty in maintaining a cohesive population: Increased
diversity might lead to challenges in maintaining a cohesive
population which is due to wide range of genetic diversity makes
it challenging to publish shared characteristics which are
important for the overall population. Imagine a population of
plants with certain ecological role with increased genetic
diversity. Diversity in traits as growth rate, water usage, and
nutrient additions with arisen competition creates difficult for the
plants to publish a shared set of characteristics conducive to
their healthcare. This increasing variety might lead to more
competition for few resources. This could make it unable to
coexist peacefully in its natural niche.

(Genetic Diversity – Advantages and Disadvantages, 2023) (Asexual and Sexual

Reproduction - Sexual Reproduction: Pros and Cons (GCSE Biology), n.d.)
(Simenson, 2021)
Solutions of real-life problem:
There are many solutions which could eliminate the effect of genetic
variation on the persons’ drug response initially by finding the
needed drug and by the addition of the needed enzymes to get a
response from a specific drug or treatment as but the best and
valuable one is:
 Pharmacogenomics: “Precision Medicine” (PGx)
Pharmacogenomics is one essential example of the field of precision
medicine which target to specify medical treatment for each
individual or a category of people by identifying its genetics,
molecular testing and genomic DNA profiles. Pharmacogenomics
identifies the DNA effects on the response of the body to drugs, as a
bad reaction with a side effect, doesn’t have an effect, or even help
in treating the patient and improve his health by knowing the time
that the drug will create a benefit on the patient and the safe time
that could be taken in which could help in defining the right
medication for the patient and the needed one to take as body
interact differently for drugs between individuals and how it is
broken and get into the infected area, as DNA follow steps in the
operation to respond to the drug as binding to the protein on the
cells’ surface which are the receptors which its quantity and type is
determined by DNA to know the needed dose of the drug, drug
uptake which is taking the drugs into cells and tissues which might
be affected by specific drugs and drug breakdown which is the
speed the body take to break down the drug by enzymes and when
the speed increase the body will get rid of the drug faster and
quicker which increases the needed dose for your body but in slow
breaking down processes the drug doses could decrease. As
Pharmacogenomic targets drug development by underlying
problems more than just treating symptoms. Some disorders are
reasoned by certain changes (mutations) in a gene. Typical gene
could have various types of mutations, that have various effects.
Drugs could be innovated through its effect on the protein working
for single mutation type. A study established in “Nature Reviews
Genetics” journal published in 2011 that 90% of individuals have at
minimum one pharmacogenetic variant collaborating in variety of
drug response which could be easily solved by pharmacogenomics
as it will help in gaining the needed information to identify the
needed dose of the treatment and even the type of treatment
required, with identifying the genetic diversity implicating drug
metabolism, enabling personalized treatment plans, enabling
medicine revealing the preemptively adjusting drug dosages to
increase its therapeutic impacts and decrease side effects and
improving treatment resulting by preventing adverse drug reactions
and increasing drug efficiency with providing certain plans for
patients based on specific genes, proteins and other elements in a
person’s body which is called as well the personalized medicine or
personalized care and how the specific genes cells or proteins could
impact on the treatment process by lab tests to gather information
about the patient. In addition, pharmacogenetics could help in
improving healthy habits decisions, screening tests and steps which
could decrease the risk of specific cell infections by consideration of
environments and lifestyles as well. Furthermore, due to
explorations in pharmacogenomics and FDA-approved treatments
with genetic profiles which could help physicians in discovering the
needed treatments and its doses and develop survival chances and
decrease exposure to adverse implications, however,
pharmacogenomics is a branch of pharmacology, focusing on the
effect of genetic variations on drug reaction and preventing special
insights into genetics which effect on individual’s response to
treatments, however, it has many types as:
1. Pharmacokinetics (PK) Genomics: It is how genetic variation
affect on drug absorption, distribution, metabolism and
elimination (ADME processes) to adjust needed drug levels as
dosage adjustment for higher therapeutic impacts.
2. Pharmacodynamics (PD) genomics: It suggests the effect of
genetic diversity on drug interactions with cell receptors,
effecting on biological response for treatments, to understand
the drug efficiency and side effects based on patient genetics,
proposing the selection of needed therapies.
3. Metabolic enzyme genomics: It focus on genetic variation in
enzymes responsible for metabolism specifically in the
cytochrome P450 family as explained in the problem, which will
help in defining patients drug dosages and potential interactions
based on the patient’s drug metabolic rates.
4. Transporter genomics: Exploring genetic variation of protein
include in drug transport along cell membrane as it effects on
drug uptake and elimination, effecting drug concentrations in
tissues.
5. Adverse drug reaction (ADR) Genomics: It study genetic factors
collaborating in the risk of adverse drug reaction, which will help
in identifying the risk of certain side effects, relating
personalized medication choices to decrease adverse reactions.
6. Onco-Pharmacogenomics: Focusing on genetic basis of
predicting cancer probability, progression and response to
anticancer drugs. Guiding the selection of cancer therapies
depending on genetic profile of tumors and the case
improvement.
7. Cardiovascular Pharmacogenomics: Investigating genetic
variation effecting on drug response in cardiovascular diseases
and guiding the selection of cardiovascular treatments
depending on genetic factors, increasing treatment outcomes.
8. Psychiatric Pharmacogenomics: Examining genetic variation
influencing drug response in psychiatric disorders. Assisting
selection of psychotropic treatments depending on genetic
factors, improving medication response and decreasing
therapeutic effects.
9. Global Pharmacogenomics: Exploring population-certain genetic
diversity and their influence on drug response along ethnic
variety and geographic groups, which help in ensuring the
relevance of treatments globally.
As through pharmacogenomic implementation and testing,
physician education, and clinical guidelines development are
common and valuable pharmacogenomic solutions, with having
significant necessities, in addition, to posing of challenges
connected to resource, education, and standardization and
integrating and cooperating approach is important to essential and
unlocking full potential of pharmacogenomics in order to improve
drug therapy for patients.

( Precision Medicine, 2018) (Pharmacogenomics: What does it mean for your

health?, 2022) (Precision or Personalized Medicine, 2023) (Precision
medicine, 2023)

Impact of solution:
Impact of Pharmacogenomics Economically:
Firstly, the economic advantages which is that Pharmacogenomics
could help in a cost-effective health treatment that PGx and
precision medicine help in improvement of drug efficiency and
decreasing side effects, with having substantial savings indicated
by eliminating the cost of the failed treatment as in the past many
treatments were used on the patient until one treatment have an
effect, in addition, to the medical tests provided during this period
without having scientific evidence for the needed treatment, as PGx
have a potential economic value while testing in clinical practice as
through estimation through asthma patients indicated a potential
cost-saving as when the hypothetical Pharmacogenomics tests the
determination of preferred initial therapy, through comparison the
annual costs per patients under the two clinical techniques (using
Pharmacogenomics to treating and genetic prior- none testing) and
in general the in the testing strategy the patients pay lower cost
range of distribution, as through the Testing strategy a cost-saving
estimation was provided from 200$ USD to 767$ USD, as
Pharmacogenomics prevent the choice of wrong treatment,
diagnosis and are key parameters in the economic reliability in
clinical practices. Through 38 studies, as most studies of
Pharmacogenomics clinical practices involve cost-utility analysis,
univariate and probabilistic sensitivity analysis, and discussing
strengths of economic analysis even with the cost of the PGx
testing, with cost-effectiveness estimations and motives for
economic choice models as one study by Thermo Fisher Scientific
journal estimated that Pharmacogenomics decrease emergency and
hospitalization utilization for almost $2K USD along 6-month follow-
up per mental patient, and as Pharmacogenomics implicated on
psychiatric drug selection on treatment adherence investigated a
cost saving among 560$ USD per dollar during 4-month follow-up
period, and for polypharmacy patients, Pharmacogenomics
estimated saving around $4K USD per patient, another review
conducted in 2022 indicated that Pharmacogenomics drug
recommendation by the Clinical Pharmacogenetic Implementation
Consortium (CPIC) guidelines estimated that 71% of 108 evaluated
studies reported the cost-effective of the PGx, as
pharmacogenomics-indicate comprehensive treatment manipulation
system and reported a decrease of 32$ USD in direct medical
charges along the first 32 months of the usage of PGx guided
patient group (around 5000 patient). As in conclusion, the
application of Pharmacogenomics is found as cost-effective and
cost-saving technique beside its medical benefits, and the quality of
the associated characteristics, improving future evaluations,
scenario evaluations involving a broad range of PGx tests costs with
lower costs of failed treatments, diagnosis and paid ineffective
treatments used as the Pharmacogenomics save all of these costs
respectively which help the patient to have a better medical
experience by shortening the time of treatment in most cases and
by having the relevance medical medication based on the genes of
the patient, in addition, to decrease the cost of the medication
journey so, the patient could pay it easily without any financial
obstacles by saving money as possible for the treatment for all
people in different social classes which is states by the National
Institute of Health that pharmacogenomics saves about 3962$ USD
per patient annually.
Secondly, the cons of the Pharmacogenomics are very limited
related to lack of saving costs in one situation which is to reject
taking the Pharmacogenomics due to ethical concerns, privacy and
security concerns about personal information which depends on the
patient desire which could eliminate the cost-effective savings
gained by the PGx. However, the Pharmacogenomics have some
economic challenges as the initial implementation costs and
reference qualifications for setting up the testing construction as it
needs high modern costing equipment from the laboratory or the
health ministry or even the clinical infrastructure, in addition, to the
need of the specialized health care professionals to interpret the
genetic information to phenotypic data as it constitutes a financial
burden on the health authority, as according to the Clinical
Pharmacogenetic Implementation Consortium (CPIC) guidelines
estimated that 29% of the same studies indicated above had no
cost-effectiveness or were uncertain as the PGx isn’t always cost-
effective. Finally, some patients don’t have the financial ability to
pay the costs of the pharmacogenetic tests which is about 2000$
USD even with its discount rates which rates 3%, with total costs
between the range 44,697$ USD, and 47,295$ USD this range
include 2918$ USD savings by PGx and its discounts and 1,680$ USD
as an indirect cost. As PGx tests to present is expensive, in addition,
to specialists which could be passed by ministries but people can’t
even pay the PGx tests and can’t even pay the traditional treatment
which cause another problem for these people but by consideration
most people benefit from the pharmacogenomics.
(The Health Benefits and Economic Value of Pharmacogenomics, 2023) (Stallings SC, Huse D,
Finkelstein SN, Crown WH, Witt WP, Maguire J, Hiller AJ, Sinskey AJ, Ginsburg
GS., 2006) (Elizabeth J. J. Berm, Margot de Looff, Bob Wilffert, Cornelis
Boersma, Lieven Annemans, Stefan Vegter, Job F. M. van Boven and Maarten
J. Postma, 2016) (Groessl EJ, Tally SR, Hillery N, Maciel A, Garces JA., 2018)
(Maciel A, Cullors A, Lukowiak AA, Garces J., 2018)

My point of view about implications of genetic variation

within and between human populations:
My point of view about genetic variation impact on drug response
for patients is that it is a serious unmeasurable case which depends
on the genes of every person individually or even depending on
every race or ethnic with is various factors influencing it as the
individualism metabolism rates, ADME processes conditions, drug
receptors and targets, adverse drug reactions and the interactions
with other medications which differ between to person depending
on genetic variation which causes the effectiveness, the hazardous
and the ineffectiveness of the same drug and case but for different
people and help in shaping the difference for its therapeutic effects,
needed doses for every individual and the needed medication which
have effect to treat his\her case based on his\her genetics which all
this is discovered and solved by one interaction to determine all
these genetic differences and adjust the needed treatment for the
patient to be treated easily with its doses on a certain period all
these could be determined by the basic easy solution for
pharmacogenetics which is the pharmacogenomics (PGx) “precision\
personalized” medicine which is an effective way to solve this
problem in order to take action to the case and to treat the patient
by the needed medication, increasing survival chances, decreasing
time of treatment and fail of treatment in some cases which could
help in solving the problem initially before it happens beyond its
economic cost-effective benefits which help in decreasing the cost
of the medication process with the medication that the body could
respond to positively without therapeutic effects in the medication
journey.