Division of Bioinformatics and Data Management for Research,Department of Research and Development, Faculty of MedicineSiriraj Hospital, Mahidol University, Bangkok, THAILAND.

Tel. [+66] 2-419-7000 Ext.2685-6

: the future of healthcare

PRECISION MEDICINE

prapat.sur@mahidol.ac.thprapatsuriyaphol@gmail.com

Prapat Suriyaphol

28 May

2021

• 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

ORY chromosome (From Father) and Mito-

chondrial (From Mother) are used for

identification process.

Cousin

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:

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

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

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%

Forensic

Sexblood typeeye color, hair color, skin colorhair morphologyAgeAncestryDimplesFrecklesshoe sizeear lobe attachmentear lobe creaseflat footednessheight, handedness, etc.

Human Genome ProjectHuman 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

MinION: A complete DNA sequencer on a USB stick

MinION: A complete DNA sequencer on a USB stick

Just a SmidgION: Oxford Nanoporeannounce iPhone-powered sequencing

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.

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25

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Evolution of the concept

Precision Medicine

• 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.

The East Room, January 30, 2015

President Obama Announces the Precision Medicine Initiative

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

Genomic Data

Gene ExpressionData

Proteomics & Metabolomics Data

Patient GenerateData

Clinical Data

Population Data

Genotype

Environment

Phenotype

Health Informatics

Bioinformatics

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

Thank you

prapatsuriyaphol@gmail.com