Pharmacogenomics and

healthcare
Cost effectiveness and quality of life

Tasneem Yahia Abdelmounim

Department of pharmaceutics
Faculty of Pharmacy
University of Khartoum
What is pharmacogenomics?
• A field of research that studies how a person’s genes
affect how he or she responds to medications.

• Aims to help doctors select the drugs and doses best

suited for each person.

• One of the core elements of personalized medicine,

which aims to treat each patient individually.
Pharmacogenomics can improve
the quality of our lives:
The right drug, to the right person at the right
dose:
• With pharmacogenomics information, doctors will be able to
analyze a patient's genetic profile and prescribe the best
available drug therapy from the beginning.

• persons exposed to codeine and tramadol with the CYP2D6

poor metabolizer phenotype have lower levels of the active
opioid metabolites, while patients with ultrarapid CYP2D6
phenotypes experience higher systemic levels of the
metabolites.
The right drug, to the right person at the
right dose:

• Therefore, poor CYP2D6 metabolizers might have less

pain control and require higher doses or even an
alternative drug to achieve the desired pain control. In
contrast, ultrarapid CYP2D6 metabolizers require low
dose to achieve pain control, but they may be at
greater risk of other ADEs compared with normal
metabolizers.
Advanced screening for diseases:
• Knowing one's genetic profile will allow a person to make
adequate lifestyle and environmental changes at an early age
so as to avoid or lessen the severity of a genetic disease.

• Likewise, advance knowledge of particular disease

susceptibility will allow careful monitoring, and treatments
can be introduced at the most appropriate stage to maximize
their therapy.
Advanced screening for diseases:

• Women with certain BRCA1 or BRCA2 gene variations have up

to an 85 percent lifetime chance of developing breast cancer,
compared with a 13 percent chance among the general
female population. These women also have up to a 60
percent chance of developing ovarian cancer, compared with
a 1.7 percent chance among the general female
population. The BRCA1 and BRCA2 genetic test can guide
preventive measures, such as increased frequency of
mammography, prophylactic surgery, and chemoprevention.
Improvements in the drug discovery and
approval process:

• Pharmaceutical companies will be able to create drugs based

on the proteins, enzymes, and RNA molecules associated
with diseases.
• This will facilitate drug discovery and allow drug makers to
produce a therapy more targeted to specific diseases. This
accuracy will not only maximize therapeutic effects but also
decrease damage to nearby healthy cells.
Improvements in the drug discovery and
approval process:

• The drug approval process will be facilitated as trials

are targeted for specific genetic population groups and
providing greater degrees of success. The cost and risk
of clinical trials will be reduced by targeting only those
persons capable of responding to a drug.
Decrease in the overall cost of health care:
• Decreases in:
• the number of adverse drug reactions.
• the number of failed drug trials.
• the time it takes to get a drug approved.
• the number of medications patients must take to find an
effective therapy.
• the effects of a disease on the body (through early
detection).
 Evaluation of
pharmacogenomics cost-
effectiveness