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Precision Medicine - The Future of Healthcare

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.

Data & Analytics◦
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
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
OR Y 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 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.
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
MinION: A complete DNA sequencer on a USB stick
MinION: A complete DNA sequencer on a USB stick
Just a SmidgION: Oxford Nanopore announce 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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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 Expression Data Proteomics & Metabolomics Data Patient Generate Data 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