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PRECISION MEDICINE: A REVOLUTION IN HEALTH BY DR NOOR KAMIL

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Development in the Field of Precision Medicine. A comprehensive prepared ppt.

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Page 1: Precision Medicine

PRECISION MEDICINE: A REVOLUTION IN HEALTHBY

DR NOOR KAMIL

Page 2: Precision Medicine

WHAT IS PRECISION MEDICINE?

Precision medicine is a medical model that proposes the customization of healthcare - with medical decisions, practices, and/or products being tailored to the individual patient. In this model, diagnostic testing is often employed for selecting appropriate and optimal therapies based on the context of a patient's genetic content or other molecular or cellular analysis.

Tools employed in PM can include molecular diagnostics, imaging, and analytics/software.

Precision medicine is a model of medicine where medical history is cross-referenced with biological patterns to provide more preventative and effective diagnosis and treatment.

Tracing biological patterns is dependent on DNA, and it can reveal drug responsiveness, health risks and inherited conditions.

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“THE RIGHT TREATMENTS AT THE RIGHT TIME, EVERY TIME, TO THE RIGHT PERSON.” 

Precision medicine implies that, diseases are defined by underlying molecular mechanisms rather than traditional signs and symptoms.

Far too many diseases we do not have a proven means of prevention or effective treatments. We must gain better insights into the biology of these diseases.

Precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person. While significant advances in precision medicine have been made for selected cancers, the practice is not currently in use for most diseases.

Many efforts are underway to help make precision medicine the norm rather than the exception.

In US to accelerate the pace, Obama has unveiled the Precision Medicine Initiative— a bold new enterprise to revolutionize medicine and generate the scientific evidence needed to move the concept of precision medicine into every day clinical practice.

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MEDICINE: PAST AND FUTURE

Past Future

Mass Medicine Precision Medicine

Designed for average patient

“One-size fits all” prescription

Treatment can be very successful to

some but not for others

Highly effective drugs for defined

patients

Offering highly effective therapeutic

options for precisely defined patient

populations based on molecular targeting

and precise diagnosis

•Higher efficacy and fewer side effects

•Smaller-scale clinical trials targeting specific

population of patients

•Pharmacoeconomical advantages by prescribing for

responders only

Page 8: Precision Medicine

PRECISION MEDICINE: DEFINED AND COMPARED

Current medical practice: Use vital signs today relative to last visit; assess symptoms; physician uses expert background,

experience and judgment to diagnose, prescribe

Personalized medicine: Collect and analyze extensive information and data about patient, EHR (electronic health record)

to genome and beyond; physician uses this information and data to make more informed diagnosis and treatment plan

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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Intu

itiv

e

Med

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Conditions are diagnosed by their symptomsTreatment efficacy is uncertainShould be charged on fee-for-service basisEm

pir

ical

Med

icin

e

Focused on pattern recognition Results can be predicted probabilisticallyCaregivers can “follow the odds” but not yet guarantee specific outcomes for individuals

Pre

cisi

on

M

ed

icin

e

Disease cause are understoodExact diagnosis is routine Conditions are treatable with predictable effective rules-based therapiesShould be charged on the fee-for-outcome basis

Page 10: Precision Medicine

EARTH SHATTERING DNA EDITING TECH

DNA testing has become increasingly useful in the detection and treatment of various conditions, including cancer, intellectual developmental delays, birth defects, and diseases of unknown origin.

CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats): use of edit DNA as easily as cutting and pasting words on a laptop. Soon it will allow to perform miraculous fixes to eliminate or alter mutations that cause everything from some cancers to Parkinson’s disease.

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PRECISION MEDICINE

Precision Medicine is an approach to discovering and developing medicines and vaccines that deliver superior outcomes for patients, by integrating clinical and molecular information to understand the biological basis of disease.

This effort leads to better selection of disease targets and identification of patient populations that demonstrate improved clinical outcomes.

Precision medicine is the application of panomic analysis (genomics, proteomics, metabolomics, transcriptomics) and systems biology to analyze the cause of an individual patient's disease at the molecular level and then to utilize targeted treatments (possibly in combination) to address that individual patient's disease process. The patient's response is then tracked as closely as possible, often using surrogate measures such as tumor load (true outcomes, such as 5 year survival rate), and the treatment finely adapted to the patient's response.

The branch of precision medicine that addresses cancer is referred to as "precision oncology".

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Inter-personal difference of molecular pathology is diverse, so as inter-personal difference in the exposome, which influence disease processes through the interactome within the tissue microenvironment, differentially from person to person.

As the theoretical basis of precision medicine, the “unique disease principle” emerged to embrace the ubiquitous phenomenon of heterogeneity of disease etiology and pathogenesis. The unique disease principle was first described in neoplastic diseases as the unique tumor principle. 

As the exposome is a common concept of epidemiology, precision medicine is intertwined with molecular pathological epidemiology (MPE).

MPE research is capable of identifying potential biomarkers for precision medicine.

An innovative approach to disease prevention and treatment that takes into account individual differences in people’s genes, environments, and lifestyles

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"Precision medicine," also known as "personalized medicine," is the term used for this transformative new model of health care that involves the selection of diagnostic tests that have the potential to identify changes in each individual patient's diseased cells.

Personalized medicine combines established clinical parameters and emerging molecular information to create preventive, diagnostic and therapeutic solutions tailored to individual patient requirements.

Precision medicine offers meaningful changes in healthcare – refining diagnosis, treatment and patient prognosis, and bringing large efficiency savings.

Recent biotechnological advances have led to an explosion of disease-relevant molecular information that has brought the promise of personalized medicine within reach.

Already, the cost of obtaining a single human-genome sequence has fallen from US$ 95 million in 2001 to only about US$ 21,000 in January 2011, and is now shrink further to US$ 1,000 recently.

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CANCER PATIENTS FACE ALL SIMILAR CHALLENGES—BUT EACH PATIENT'S CANCER IS UNIQUE

Cancers are categorized according to anatomical site of origin (i.e., breast cancer, prostate cancer, lung cancer, etc.), yet oncologists have long recognized that people with the "same" cancer do not always respond the same way to the same medicine—in other words, every patient's cancer is unique, driven by distinct biological factors.

In recent years, dramatic advances in molecular biology, genomics, and related technologies have resulted in greater understanding of the mechanisms of cancer at the molecular level.

It is now possible not only to identify the genetic and molecular variations in each patient's cancer cells, but to apply the results from the tumor profile, in some circumstances, to begin treatment strategies that target the molecular underpinnings of the specific disease in each patient.

Page 15: Precision Medicine

Molecular analysisTherapy matched

to genomic alteration

Andre, ESMO, 2012

Target identification

What is the optimal Biotechnology ?

What is the optimal Algorithm ?

Clinical evidence

PRECISION MEDICINE CONCEPT: IDENTIFY THE TARGETS TO BE TREATED IN EACH PATIENT

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When the immune system is stimulated, T-cells make interferon, which promotes PD-L1 expression by the tumor cells. When PD-L1 binds to PD-1 on the T-cell, the T-cell becomes deactivated, allowing the cancer cell to evade immune attack.

Deactivated T-cell, immune checkpoint inhibitor

Activated T-cell, immune checkpoint inhibitor

PD-1 and PD-L1 inhibitors can prevent the tumor cell from binding to PD-1, enabling the T-cell to remain active and co-ordinate an attack.

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Adoptive immunotherapy

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Cell signilling inhibitors

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PERSONALIZED VS PRECISION

Non-genetic physician comments: “We practice personalized medicine every day.  It’s called basic patient care!”  For example, one RA patient may prefer to have a drug infusion once per month and another patient may prefer to take a pill each day. 

The Nature Medicine article emphasizes  “the idea that molecular information improves the precision with which patients are categorized and treated”. 

Personalized medicine might say “patient X with disease Y should get drug Z”,

Precision medicine says “patient X has a subset of disease Y — actually, disease Y3, not disease Y1, Y2 or Y4 — and patients with disease Y tend to respond more favorably to drug Z”. 

Charles Sawyers, an oncologist at the Memorial Sloan-Kettering Cancer Center in New York: “we are trying to convey a more precise classification of disease into subgroups that in the past have been lumped together because there wasn’t a clear way to discriminate between them”.

Around the time of the completion of the human genome project in 2000, there was hope that genetic markers would clearly segment patients into responders and non-responders.  However, this has not yet happened, in part because complex traits — including PGx (pharmacogenetics) predictors of response to drugs — are highly polygenic. 

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A more realistic perspective on the role of genetics in patient care is that underscored by the concept of precision medicine.  The same physicians who say “we already practice personalized medicine” are the first to admit “we need more precise classification of disease”. 

For a disease such as RA, many skilled physicians prefer the word “syndrome” over “disease”, to emphasize this point exactly.  RA is not one disease; rather, it is a collection of distinct but overlapping diseases which make up a crude category we current call rheumatoid arthritis. 

Intuitively, most physicians believe that if we could understand these disease subsets, then we could treat patients more effectively by picking the right medications (most of the time, but not all of the time) and predicting the right outcomes (with greater precision). 

In 2011, a group convened by the National Academy of Sciences published a 142-page report entitled “Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease”. The “new taxonomy” that emerges would define diseases by their underlying molecular causes and other factors in addition to their traditional physical signs and symptoms. 

The report adds that the new data network could also improve biomedical research by enabling scientists to access patients’ information during treatment while still protecting their rights. 

This would allow the marriage of molecular research and clinical data at the point of care, as opposed to research information continuing to reside primarily in academia. 

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REFERENCES www.nih.gov/precisionmedicine

http://www.latimes.com/brandpublishing/localplus/ucsandiego/la-ss-ucsd2015-3dbioprinting-dto-story.html

http://www.cdc.gov/genomics/public/features/precision_med.htm

Francis S. Collins, M.D., Ph.D., and Harold Varmus, M.D. A, New Initiative on Precision Medicine, N Engl J Med 2015; 372:793-795 February 26, 2015 DOI: 10.1056/NEJMp1500523

Blau, CA, Liakopoulou, E (2013). "Can we deconstruct cancer, one patient at a time?". Trends in Genetics 29 (1): 6–10.

Levi A. Garraway, Jaap Verweij and Karla V. Ballman (2013). "Precision Oncology: An Overview". J. Clinical Oncology 31 (15): 1803–1805.

Ogino S, Lochhead P, Chan AT, Nishihara R, Cho E, Wolpin BM, Meyerhardt AJ, Meissner A, Schernhammer ES, Fuchs CS, Giovannucci E. Molecular pathological epidemiology of epigenetics: emerging integrative science to analyze environment, host, and disease. Mod Pathol 2013;26:465-484.

Ogino S, Fuchs CS, Giovannucci E. How many molecular subtypes? Implications of the unique tumor principle in personalized medicine. Expert Rev Mol Diagn 2012; 12: 621-628.

Ogino S, Lochhead P, Giovannucci E, Meyerhardt JA, Fuchs CS, Chan AT. Discovery of colorectal cancer PIK3CA mutation as potential predictive biomarker: power and promise of molecular pathological epidemiology. Oncogene advance online publication 24 June 2013; doi: 10.1038/onc.2013.244

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