This document discusses precision medicine and its future applications. It notes that currently many patients do not respond to initial treatments for common conditions like depression, asthma, diabetes and Alzheimer's. Precision medicine aims to change this by using massive datasets including genomics, clinical information, and population data to better understand disease at the individual level and tailor diagnosis and treatment specifically for each patient. This more personalized approach could help get the right treatment to patients more quickly and effectively.

1. Division of Bioinformatics and Data Management for Research,
Department of Research and Development, Faculty of Medicine
Siriraj Hospital, Mahidol University, Bangkok, THAILAND.
Tel. [+66] 2-419-7000 Ext.2685-6
: the future of healthcare
PRECISION MEDICINE
prapat.sur@mahidol.ac.th
prapatsuriyaphol@gmail.com
Prapat Suriyaphol

2. 28 May
2021

6. • 38 percent of patients with depression do not
respond to the first drug they are prescribed
• 40 percent of patients with asthma do not respond
to the most commonly prescribed drugs
• type 2 diabetes (43 percent), arthritis (50 percent),
and Alzheimer’s disease (70 percent) do not
respond to the most commonly prescribed drugs

7. OR
Y chromosome (From Father) and Mito-
chondrial (From Mother) are used for
identification process.
Cousin

9. SNP also influence
disease susceptibility or
response to drugs
Source: https://www.23andme.com/gen101/genes/
SNP causes change in physical
appearance (e.g. Curly or
Straight Hair)
Observable traits are known as:

11. Drug discovery, design and trials
Timeline (years)
0
Decision to develop
new drug
3
Cell assay
development
6
Test and identify
compounds
12
Animal models testing
for efficacy and toxicity
13
Cost-evaluation for large-
scale production
15
Human Phase I trial for
adverse events
16
Human Phase II trial for
efficacy and side-effects
18
Human Phase
III trial to
confirm
efficacy and
safety before
marketing

13. Future (current) Drug Development
Timeline (years)
0
Decision to develop
new drug
1
Genetic studies identify
candidate protein to
target
3
Bioinformatics
assessment of drug
targets
4
Bioinformatics testing of
animal model toxicity
8
Human Phase II trial only for
expected responders
9
Human Phase III trial
only with expected
responders
6
Animal models testing for
efficacy, dosage and
toxicity
7
Human Phase I trial with
genetic screening to
correlate response

14. Celebrity Ambassador of
Genetic risk prediction
• BRCA1 mutations, 87% risk of breast
cancer and 50% risk of ovarian cancer
• Mastectomy reduces risk from 87% to 5%

15. Forensic
Sex
blood type
eye color, hair color, skin color
hair morphology
Age
Ancestry
Dimples
Freckles
shoe size
ear lobe attachment
ear lobe crease
flat footedness
height, handedness, etc.

17. Human Genome Project
Human genome size?
~3 billion (haploid)
How much did it cost to sequence the first human genome?
~1 billion USD
How long did it take to sequence the first human genome?
~13 years
How long for sequencing human genome using NGS?
~ 1wk – 3wks
How much for sequencing human genome using NGS?
~ 1,000 USD

18. MinION: A complete DNA sequencer on a USB stick

19. MinION: A complete DNA sequencer on a USB stick

20. Just a SmidgION:
Oxford Nanopore
announce iPhone-
powered sequencing

21. The study drew on electronic health records of 16,234 patients
admitted to intensive care units—including medical, surgical, and
cardiac units—at Boston's Beth Israel Deaconess Medical Center
from 2001 to 2007. Researchers created an algorithm that
combines 27 factors into a Targeted Real-time Early Warning
Score, or TREWScore, measuring the risk of septic shock.

24. 24

25. 25

26. 26

27. 27

28. Evolution of the concept
Precision Medicine

29. • Clinicians have always practiced personalized medicine, using
personal health information to make decisions on diagnosis and
treatment.
• When we refer to personal health information we are including
genetic, physiological, anatomical, environmental risk factors, socio
economic issues, cultural and psychological aspects as well as the
familial and individual health history.

30. The East Room, January 30, 2015
President Obama Announces the Precision Medicine Initiative

31. Precision Medicine: Defined and Compared
Personalized medicine:
Collect and analyze extensive information and data
about patient, EHR to genome and beyond; physician
uses this information and data to make more informed
diagnosis and treatment plan
Current medical practice:
Use vital signs today relative to last visit (EHR?); assess
symptoms; physician uses expert background, experience
and judgment to diagnose, prescribe
Precision medicine:
Use massive data network that aggregates and analyzes
information from huge patient cohorts, healthy
populations, experimental organisms– and reaches toward
disease mechanisms, and precision diagnosis and
treatment for each individual

32. Genomic Data
Gene Expression
Data
Proteomics & Metabolomics
Data
Patient Generate
Data
Clinical Data
Population Data
Genotype
Environment
Phenotype
Health
Informatics
Bioinformatics

35. Jameson JL, Longo DL. N Engl J Med 2015;372:2229-2234.

51. Thank you
prapatsuriyaphol@gmail.com