Personalized medicine (PM) aims to individualize treatment based on a person's genes, environment, and lifestyle. It involves analyzing a person's genetic, genomic, and clinical information to make predictions about disease susceptibility, progression, and best treatment options. PM is not just about genetics but also considers natural variations in how individuals metabolize and respond to drugs. Through molecular analysis of biomarkers, PM can classify disease subtypes and subgroups that respond differently to therapies. The goals of PM are to enable more informed healthcare decisions, improve outcomes through targeted therapies, reduce side effects, focus on prevention over reaction, allow for earlier intervention, and reduce costs through a more personalized approach.

1. Personalized
Medicine

2. Personalized Medicine (PM) …
… is …
… about making the
treatment as
individualized as
the disease.
… the ability to predict
an individual's susceptibility
to diseases.
… a young but
rapidly advancing
field.
… the use of new
methods of molecular
analysis.

3. As we know…
… people vary from one another in many ways:
types and amount of
stress they experience
exposure to
environmental
factors
their DNA
what they eat The person
Many of these variations play a role in health and disease

4. … so …
… because these factors are different for
every person,
the nature of diseases is
as individual as the people who have them.

5. PM involves identifying:
genetic info genomic info clinical info
allows
predictions to be made about
a person's susceptibility of :
developing disease course of disease
its response to treatment

6. But PM is not "genetic medicine"!
 Genetics, a field more than 50 years old,
is the study of heredity. It examines
individual genes and their effects as they
relate to biology and medicine.
 In PM we study DNA polymorphisms

7. DNA polymorphisms
 It is the natural variations in our genes that
plays a role in our risk of getting or not
getting certain diseases.
 The combination of these variations across
several genes affects each individual’s risk.

8. Natural genetic variations also are part
of the reason …
 … the same drug works well in one
individual and not another.
 DNA polymorphism leads to differences in:
how drugs are by the body
absorbed
used
metabolized

9. Genes (I)
 Give a rise to proteins that play key roles in
biological processes
 In rare instances, one single mutated or
malfunctioning gene leads to a distinct
genetic disease or syndrome. Such
disorders are termed “monogenic”.
 The most familiar of these rare disorders include
sickle cell anemia and cystic fibrosis.

10. Genes (II)
 Also multiple genes can influence the
development of many common and
complex diseases, as well as a response to
the pharmaceuticals designed to treat
them.
 The contribution of several genes to these
complex disorders is termed “polygenic.”

11. As a result of this complexity…
 … one disease can be reclassified as
several different diseases, each of which
might respond to a different treatment.
 Such disease complexity exists for asthma
and many forms of cancer.

12. How scientists can do it?

13. Molecular analysis of “biomarkers”
 Biomarkers - are biological molecules that
are associated with a particular disease
state. It’s analysis can help classify:
 sub-types within a disease
 sub-groups of patients who have the same
molecular variation of the disease

14. Specific advantages that PM may offer
patients and clinicians include (I):
 Ability to make more informed medical
decisions
 Higher probability of desired outcomes
thanks to better-targeted therapies
 Reduced probability of negative side effects

15. Specific advantages that PM may offer
patients and clinicians include (II):
 Focus on prevention and prediction of
disease rather than reaction to it
 Earlier disease intervention than has been
possible in the past
 Reduced healthcare costs

16. PM is already having an impact on
patient treatments:
 Molecular testing is being used to identify
breast cancer and colon cancer patients
likely to benefit from new treatments
 Newly diagnosed patients with early stage
invasive breast cancer can now be tested
for the likelihood of recurrence.

17. Using natural genetic variations PM
aims …
 … to tackle more complex diseases, such
as cancer, heart disease, and diabetes …
 Believed to be influenced primarily by
environmental factors and their interaction with the
human genome.
 … and to develop new safe and effective
treatments for genetically defined sub-
groups of patients.

18. Diagram

19. The End