precision medicine - the future of healthcare
TRANSCRIPT
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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
[email protected]@gmail.com
Prapat Suriyaphol
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28 May
2021
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• 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
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ORY chromosome (From Father) and Mito-
chondrial (From Mother) are used for
identification process.
Cousin
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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:
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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
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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
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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%
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Forensic
Sexblood typeeye color, hair color, skin colorhair morphologyAgeAncestryDimplesFrecklesshoe sizeear lobe attachmentear lobe creaseflat footednessheight, handedness, etc.
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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
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MinION: A complete DNA sequencer on a USB stick
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MinION: A complete DNA sequencer on a USB stick
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Just a SmidgION: Oxford Nanoporeannounce iPhone-powered sequencing
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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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Evolution of the concept
Precision Medicine
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• 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.
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The East Room, January 30, 2015
President Obama Announces the Precision Medicine Initiative
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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
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Genomic Data
Gene ExpressionData
Proteomics & Metabolomics Data
Patient GenerateData
Clinical Data
Population Data
Genotype
Environment
Phenotype
Health Informatics
Bioinformatics
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Jameson JL, Longo DL. N Engl J Med 2015;372:2229-2234.
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