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

Go to QuestDiagnostics.com/PersonalizedMed

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Quest, Quest Diagnostics, any associated logos, and all associated Quest Diagnostics registered or unregistered trademarks are the property of Quest Diagnostics. All third party marks - ® and ™ - are the property of their respective owners.

© 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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