personalizedmedicine - clinical education...
TRANSCRIPT
Estimated cost ofsequencing a human
genome4
In 2001$300,000,000
In 2014$1,000
$604,000,0005
In annual savings ifpatients with metastatic
colorectal cancer receiveda genetic test for the
KRAS gene priorto treatment
Women’s Health
Prenatal identification of trisomies, microdeletions, and sex chromosome
aberrations helps prospective parents have accurate expectations for health of offspring
Heart Disease
Genetic risk scores identify individuals at risk—and highlight who will get the greatest clinical benefits from therapy
Oncology
Genetic assessment of inherited risk factors enables decisions on cancer screening/monitoring frequency, preventive interventions, and lifestyle choices
Central Nervous System
Detection of genetic predisposition for neurologic illness (such as Alzheimer’s disease) helps families plan for future care needs
Targeted oncology therapies in breast cancer, lung cancer, gastrointestinal
stromal tumors, chronic myeloid leukemia, and late-stage melanoma
Cardiovascular drugs eg, clopidogrel P2Y12 activity
testing
Central nervous system drugs targeted to epilepsy, migraine,
and dementia
Big Data Power Personalized MedicineIncreasing support for large-scale data collection and sharing
Via NIH Initiative Goals
CollaborationWithin the Precision Medicine Initiative, CDC and leading institutions will collaborate with private industry to share data6
1,000,000 AmericansWill share their genomic information voluntarily1
National network of scientistsis being recruited to search for new insights and treatments6
Shrinking Costs, Potential Economic BenefitsPayers increasingly recognize the value of genetic tests and targeted therapies,
yet access is still inconsistent while economic evidence accumulates
References: 1. Collins FS. Fiscal Year 2016 Budget Request. Department of Health and Human Services National Institutes of Health. http://www.nih.gov/about/director/budgetrequest/fy2016testimony.htm. Accessed May 5, 2015. 2. U.S. Food and Drug Administration. Table of Pharmacogenomic Biomarkers in Drug Labels. http://www.fda.gov/drugs/scienceresearch/researchareas/pharmacogenetics/ucm083378.htm. Accessed May 5, 2015. 3. Personalized Medicine Coalition. The Case for Personalized Medicine. 2011. 4. Personalized Medicine Coalition. The Case for Personalized Medicine. Fourth Edition. 2014. 5. Shankaran V. Presented at the Gastrointestinal Cancers Symposium. January 2009. http://www.medscape.com/viewarticle/586946. 6. The White House Office of the Press Secretary. FACT SHEET: President Obama’s Precision Medicine Initiative. https://www.whitehouse.gov/the-press-office/2015/01/30/fact-sheet-president-obama-s-precision-medicine-initiative. Accessed May 22, 2015. 7. Tada et al. Twelve–single nucleotide polymorphism genetic risk score identifies individuals at increased risk for future atrial fibrillation and stroke. Stroke. 2014;45:2856-2862. 8. Pasche B. Recent advances in breast cancer genetics. Cancer Treat Res. 2008;141:1-10. 9. King MC, Levy-Lehad E, Lehad A. Population-based screening for BRCA1 and BRCA2. JAMA. 2014;312(11):1091-1092. doi:10.1001/jama.2014.12483.
Personalized Medicine Empowers Action From InsightIndividualized genomic testing help people work with genetic counselors
to improve decision-making when facing vital choices
Personalized medicine is changing atrial fibrillation management
DNA-based genetic risk scores improve anticoagulation therapy decisions and identify overlooked patients7
BRCA mutation testing improves cancer screening and treatment
A positive family history is reported by 15% to 20% of all breast cancer patients, as well as many ovarian cancers8
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© 2015 Quest Diagnostics Incorporated. All rights reserved. May 2015
Personalized medicine and precision medicine are interchangeable terms that include treatments tailored to a person’s molecular and/or genetic characteristics to help:
avoid adverse drug reactions • increase adherence • improve quality of life • reveal alternatives
Today’s tests help predict individual responses to:
Number of drugs to date with labels that include
pharmacogenomics biomarkers2
Personalized drugs, treatments, and diagnostic products grew
from 13 in 20063 to 113 in 20144
Tremendous potential, but challenges remain
Personalized Medicine
What Is Personalized Medicine?
Raju Kucherlapati, PhDDepartments of Genetics and Medicine,
Harvard Medical School
There’s no better time than now to embark on this ambitious new enterprise to revolutionize medicine.1
When Is It Coming to Mainstream Medicine?
Technical barriers, societal challenges, and costs have begun to fall, broadening patient access
to advances
2014
2006 13
113
Right Drug, Right Patient, Right Time
It can improve medicine by ultimately reducing cost, improving diagnosis, and
improving care.
Charles “Buck” Strom, MD, PhD Vice President, Genetics and Genomics,
Quest Diagnostics
By optimizing therapies to maximize efficacy and minimize adverse outcomes,
personalized medicine will lead to a reduction of health care costs and an
increase in favorable outcomes.
At Quest Diagnostics
500,000New patient encounters recorded
daily by Quest Diagnostics
Electronic Health Recordsinterface with laboratories to enable
analyses of vast populations
Health Trends DatabaseQuest Diagnostics has gathered over
20 billion individual results to date
Whether from a diagnostics standpoint we can identify a disease sooner, or better identify which patient will respond best to a particular therapy, this is where patient
care is going today.
Among women who carry mutations in BRCA1 or BRCA2, surgical intervention, in particular
risk-reducing salpingo-oophorectomy, reduces risk of both ovarian and breast cancer and
reduces overall mortality.9
To fully tap the potential of personalized medicine, practitioners, scientists, and companies must collaborate in creating education for practical applications and in collecting, analyzing, and sharing data
Francis S. Collins, MD, PhD Director, National Institutes of Health
The use of genetic, genomic, and molecular information for
accurate diagnosis, prognosis, and treatment decision-making.
Douglas Rabin, MD Medical Director, Women’s Health,
Quest Diagnostics
Personalized Medicine in Action
Gerard Abate, MDMedical Director, Cardiovascular Disease,
Quest Diagnostics
Mary-Claire King, PhDRecipient of the 2014 Lasker-Koshland Special
Achievement Award in Medical Science
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