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An Innovation Revolution — How Genetic Testing is Improving Health and the Economy

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An Innovation Revolution — How Genetic Testing is Improving Health and the Economy. Kenneth Sisco, MD, PhD, FCAP Medical Director Quest Diagnostics . March 17, 2011. Medicine of the past: “Trial-and-Error” medicine. Observe. Diagnose. Treat. Monitor response. Adjust.

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An Innovation Revolution —

How Genetic Testing is Improving Health and the Economy

Kenneth Sisco, MD, PhD, FCAP

Medical Director

Quest Diagnostics

March 17, 2011

medicine of the past trial and error medicine
Medicine of the past: “Trial-and-Error” medicine








Trial-and-error medicine often works, but…











Trial-and-error medicine is often imprecise

One-year survival rate for certain cancers


Delays in care


Inappropriate or unnecessary utilization


100,000 new cases early-stage breast cancer

(estrogen-Receptor positive; node negative)

  • Every year in U.S., adverse drug reactions =
  • 100,000 deaths
  • 2,000,000 ADRs

Standard practice in 90% = chemo (after surgery/radiation)

70% receive no benefit from chemo

Source: M Aspinall presentation, 2008;Harvard Business Review 2007; Mayo Clinic; NIH


Personalized medicine: precise diagnosis and treatment







Trial and Error Medicine



Personalized Medicine


Diagnose disease more precisely

Genetic tests identify DNA of childhood leukemia, enabling physicians to choose the treatment that fits it precisely.

  • Acute lymphoblastic leukemia is most common form of childhood leukemia
  • Genetic tests identify subtypes; allow precise treatment and timing
  • Today’s cure-rate exceeds 80% vs. 4% in the 1960s

The impact of genetic tests and genome-based cancer drugs on survival of childhood leukemia



Source: New England Journal of Medicine, 2006, 200l; Personalized Medicine Coalition, 2006.


Select treatment based on genetic fingerprint

Genetic tests identify the genetic makeup and rapid mutation of an individual’s HIV virus and pinpoint the most effective drug.
  • Genetic tests + HIV drugs = a “one-two” punch…
    • Dramatic decline in deaths
    • Patients live normal lives
    • From “Killer” to “Chronic”
  • The reason: Genetic tests tell docs which drug combo will work best
    • Tests also let docs adjust drugs to combat fast-morphing virus

The effect of lab tests combined with anti-HIV drugs

Source: Journal of American Medical Association, 2006; New England Journal of Medicine, 1998; Centers for Disease Control and Prevention


Predict risk before symptoms appear

Genetic test identifies variations in the BRCA 1 and BRCA 2 genes that increase risks for breast and ovarian cancer.
  • Genetic tests identifies increased hereditary risk for breast and ovarian cancer
  • Lifetime risks: 35-85% of BRCA women will develop breast cancer vs 13.2 percent for others
  • Knowledge of increased risk allows preventive measures
    • closer monitoring,
    • risk avoidance,
    • preventive surgery or chemotherapy

Lifetime risk of developing breast cancer…

…with BRCA 1 and 2 = 36% - 85%

…without = 13%

Lifetime risk of developing ovarian cancer…

…with BRCA 1 and 2 = 16% - 60%

…without = 1.7%

Source: National Cancer Institute

genetic tests can begin to transform health costs
Genetic tests can begin to transform health costs

Rx = $300 Billion Annually

  • US spends $300 Billion on pharmaceuticals each year
  • Genetic tests can help physicians better target
    • Right patient, right drug
  • As a result, potential savings through better targeting via genetic testing

Non therapeutic responders =

$60B - $225 Billion annually


Potential savings via better targeting:

Up to $110 Billion


Source: M Aspinall, Harvard Business Review, 10/2007; Spear,Trends in Molecular Medicine, 5/2001; IMS, 2010


Genetic testing helps get right drug, to right patient

Percentage of patients for which standard drug treatment provides effective therapy is shown in blue.

Source: Aspinall, Harvard Business Review, October, 2007; Spear,Trends in Molecular Medicine, May 2001


Greater economy through more precise dosing

Genetic tests for dosing of warfarin cut hospitalization

  • Warfarin = most common drug thinner
  • Very difficult to dose
    • Too much = bleeding
    • Too little = strokes
  • Genetic testing to guide physicians in dosing:
    • Now on FDA label
    • JACC study (6/10) shows 31% drop in hospitalization
    • 2006 Brookings/AEI estimate: $1.1 billion savings annually

Genetic test leads to drop in hospitalization



Source: Journal of the American College of Cardiology, June, 2010; Brookings/AEI, 2006


Breast cancer: getting right drugs to right patients

Cost of Herceptin per Patient

  • 200,000 new breast cancer cases annually
  • 30% have overabundance of HER2 protein
    • So regular chemo doesn’t help; Herceptin does
  • Genetic testing tells doctors which patients have HER2
    • Reduces risk of death by 33% and risk of recurrence by 52%
  • $24K savings per patient

Savings: $24K

per patient



Without HER2 Test

With HER2 Test

Source: M. Aspinall, Presentation, 3/28/08; J Clin Oncol (2004) ; NEJM (2005)


Metastatic colon cancer: right drugs, right patients

Cost of drug per patient: $71,120

  • 40% of patients with metastatic colon cancer do NOT benefit from standard therapy
    • KRAS gene mutation
  • Genetic test identifies those patients
  • Testing = select right drug; avoid ineffective treatment; reduce adverse events = $ savings
  • One estimate: $700 million savings annually if test is done before prescribing drug.

Cost of test per patient: $452

Source: Shankaran, V, et al, ”Economic Implications of KRAS testing in metastatic colorectal cancer,” Paper presentation, ASCO, 2009; Manci, Am J Health-Syst Pharm., 2009

what does the future hold
What does the future hold?
  • Molecular approaches in screening and monitoring an increasing number of cancer types
  • Molecular approaches in treating inherited gene mutations, as well as acquired diseases
  • Evolution of point-of-care testing, as well as microarray analysis of disease susceptibility