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Genomics-Based Personalized Healthcare. Presented by: Charis Eng, MD, PhD - Chair & Director Genomic Medicine Institute Director Center for Personalized Genetic Healthcare. Example Problem at Hand. Why the Different Responses to Same Treatment?. Insert Text. Asthma Attack Stopped.

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genomics based personalized healthcare
Genomics-Based Personalized Healthcare

Presented by:

  • Charis Eng, MD, PhD
    • - Chair & Director
    • Genomic Medicine Institute
    • Director
    • Center for Personalized Genetic Healthcare
insert text

Example Problem at Hand

Why the Different Responses to Same Treatment?

Insert Text

Asthma Attack

Stopped

Bottom Child Has a Genetic Variant In B-Adrenergic Receptor Gene

B-Adrenergic

Inhalers

Both Have Asthmatic Attacks

Dead

slide3

Breast Conserving Surgery

Adjuvant Chemotherapy

Breast Conserving Surgery

Adjuvant Chemotherapy

Example Problem at Hand

Why the difference?

“Normal” Gene

Cured

Early Stage

Breast Cancer

“Altered” Gene

Dies of Ovarian Cancer

10 Years Later

based on objective genomic or genetic data
Based on Objective Genomic or Genetic Data:
  • WHO is at risk of developing disease(s)?
    • Potentially Entire Population
    • Personalized risk assessment
  • WHAT can we do about genomic risk?
    • Personalized risk management
    • Personalized preventive and curative measures?
  • WHEN is age (range) of highest risk?
  • WHERE: Can surveillance be organ-specific?
  • WHY and HOW?
    • Patient-Oriented Genomics/Genetics Research
slide6

“Sporadic”

“Environmental Exposure”

“Bad Luck”

A BIG RED DOG.

Variants:

THE BIG RED GOD.

“Some Genetic Component”

“Familial Clustering”

High Penetrance Disease Susceptibility Gene(s)

THE BIR EDD OG.

Mutated Genes: THE BIG R.

Genetic Load for Any Disease

Emerging Dogma

Current Dogma

Normal Gene: THE BIG RED DOG.

slide7

High Penetrance Disease Susceptibility Gene(s)

High Penetrance Breast Cancer Susceptibility Genes

BRCA1

BRCA2

PTEN

TP53

LKB1

Mutation in Gene > High Likelihood of Developing Breast and Other Component Cancers

slide8

Common Low Penetrance Variants Associated with Breast Cancer

Cases Controls

100 4,000

THE BIG RED DOG.

70 70

THE BIG RED RIG.

1,500 10

THE BIG RED GOD.

55 70

WOW BIG RED DOG.

2,500 25

A BIG RED DOG.

Genome-Wide Association Studies

A BIG RED DOG.

FGFR2

TNRC9

MAP3K1

LSP1

CASP8

Variants:

Easton DF et al Nature 2007

Cox A et al Nature Genet 2007

Pharoah et al PloS Genet 2007

THE BIG RED GOD.

slide9

Low Penetrance Variants in Various Genes Associated with Various Diseases*That Have Replicated (<5% of All Association Studies)*That Give Risks with OR >1.15 (low level risk)

  • Subsets of:
  • Breast Cancer
  • Prostate Cancer
  • Diabetes Mellitus Type 2
  • Obesity
  • Coronary Heart Disease
  • Crohn Disease
  • Others
somatic genetic alterations in sporadic carcinomas

N

LOH

Ep.

Somatic Genetic Alterations in Sporadic Carcinomas
  • Epithelial component of carcinomas believed to be the neoplastic component
  • Pathologists measure invasion by whether the neoplastic epithelial cells invade membrane
  • Genetic alterations believed in epithelium
slide11

Normal

Normal Tissue

Ep

St

TP53 Exon 2 Mutation

TP53 Exon 6 Mutation

Somatic TP53 and Other Gene Mutations in Stroma of Breast Carcinomas

Kurose et al Nature Genet 2002, Fukino et al JAMA 2007

slide12

St

TP53 Mutation

Stromal (Not Epithelial) Genomic Alterations Associated with Tumor Aggressiveness and Metastases in Breast and Head and Neck Cancers

Weber et al JAMA 2007, Fukino et al JAMA 2007, Patocs et al N Engl J Med (almost in press)

personalized genetic health assessment and management 2007

Low Risk

Breast Cancer

Or Any Disease

ACS Guidelines

General Population

High Risk

Receive Gene Test Results

Post-Test Counseling

Test Negative

Center for Personalized Genetic Healthcare

Personalized Genetic Health Assessment and Management 2007

Is it hereditary

or sporadic?

Personal & Family History

Age at Onset

Other Types of Cancer

One or More Organs

Pedigree Drawing

Epidemiology says

10-15% caused by high

penetrance mutant genes,

BUT which 10-15%?

Pre-Test Genetic Counseling

Genetic Testing

Risk Management

Screening

Prophylactic Surgery

Test Positive

genomics based personalized healthcare for cancer 2008 09

Prioritization & Testing of

Known High Penetrance

Cancer Genes in Setting of

Genetic Counseling

Multiple Generation Pedigree

For Cancer Genetic Risk Assessment

Clinical Screening,

Preventative Measures,

Behavior Modification

Select Multi-Agent Targeted

Therapy With >99%

Likelihood of Durable

Response & <1% Likelihood

Of Adverse Effects

Germline Variant Profling

Biopsy of Cancer

Somatic Genomic Profiling of

Cancer Epithelium & Stroma

Histopathology

Genomics-Based Personalized Healthcare for Cancer 2008-09

Multidisciplinary Cancer

Consult Including

Genomic Medicine

And Genetic Counseling