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“What I Do”. Bryan Betz PhD Clinical Assistant Professor Technical Director Molecular Diagnostics Laboratory. Molecular Diagnostics / Molecular Pathology. Application of molecular biology techniques and knowledge to clinical laboratory diagnosis. Infectious disease Inherited disease

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slide1

“What I Do”

Bryan Betz PhD

Clinical Assistant Professor

Technical Director

Molecular Diagnostics Laboratory

slide2

Molecular Diagnostics / Molecular Pathology

Application of molecular biology techniques and knowledge to clinical laboratory diagnosis

  • Infectious disease
  • Inherited disease
  • Hematopathology
  • Solid Tumors
  • Identity Testing
  • Forensics
  • Pharmacogenomics

Is and will continue to revolutionize the way in which diseases are diagnosed and therapeutics are employed

slide3

Molecular Pathology

A Universal Discipline of Laboratory Medicine

INFECTIOUS

DISEASE

FORENSICS

HEMATO

PATHOLOGY

Molecular

Pathology

IDENTITY

TESTING

SOLID

TUMORS

GENETIC

DISEASE

molecular diagnostics is a rapidly expanding field
Molecular Diagnostics is a Rapidly Expanding Field
  • Molecular diagnostics is the fastest growing segment of the diagnostics industry
  • ~$34 billion world-wide market
  • 6-8% annual growth
  • New discoveries and technology platforms are leading to the development of more and increasingly sophisticated tests
    • DNA sequencing
    • Expression microarrays
    • Array CGH
    • Detection technology/test platforms
  • Majority of the innovation and discovery takes place in Universities
slide6

Applications of Molecular Diagnostics in Clinical Laboratory Medicine

  • Infectious Disease
    • Qualitative and quantitative detection
    • Microbial identification
    • Drug resistance
  • Identity Testing
    • Determining familial relationships
    • Bone marrow engraftment analysis
    • GVHD monitoring
    • Laboratory specimen identification
    • Forensics
  • Genetics (inherited disease)
    • Diagnosis of:
      • Single gene disorders
      • Complex polygenic disorders
      • Chromosomal disorders
  • Oncology – Solid Tumor and Hematologic
    • Diagnosis
    • Prognosis
    • Predict response to therapy
    • Monitor residual disease
  • Pharmacogenomics
    • Drug metabolism
    • Determine drug dosage
slide7

UM Molecular Diagnostics Test Menu

Hematologic Malignancies

Quantitative BCR/ABL

BCR/ABL1 Kinase Mutation Analysis

FLT3 Gene Mutation

NPM1 Mutation

CEBPA Mutation

KIT D816V Mutation

t(15;17) PML/RARA Translocation

t(14;18) IGH/BCL2 Translocation

B Cell (IGH) Gene Rearrangement

T Cell Gamma (TRG) Gene Rearrangement

JAK2 V617F Mutation Detection

JAK2 Exon 12 Mutations (March 2010)

Solid Tumors

PAX/FOXO1 Translocation, Alveolar Rhabdomyosarcoma

EWSR1/WT1 Translocation, DSRT

EWS/FLI1, EWS/ERG Translocations, Ewing Sarcoma

SYT/SSX Translocation, Synovial Sarcoma

EWS/ATF1 Translocation, Clear Cell Sarcoma

Microsatellite Instability Analysis

KRAS Mutation

BRAF V600E Mutation

KIT Mutation in GIST

KIT Mutation in Melanoma

HER2 FISH, Breast cancer

UroVysion FISH, Bladder cancer

Genetics/Pharacogenomics

Cystic Fibrosis Carrier Screening

Apolipoprotein E Genotyping

Hereditary Hemochromatosis Mutation Detection

Factor V Leiden Mutation Detection

Methylenetetrahydrofolate Reductase C677T Mutation

Prothrombin 20210 Mutation

UGT1A1 Promoter Genotyping

Warfarin Sensitivity Analysis

Identity Testing

Bone Marrow Transplant Engraftment Analysis

slide8

My Day to Day Activities

  • Clinical
    • • Direct the development, validation, and implementation of new molecular tests
    • • Technical oversight and trouble shooting of existing tests
    • • Maintain quality control and quality assurance standards
    • • Daily review of test data
  • Teaching
    • • MGP fellows and block E residents
  • Research/Academic
    • • Novel molecular diagnostic tests and technologies
    • • Collaborations with AP and HP faculty
slide9

New Tests Since July 2007

Hematologic Malignancies

Quantitative BCR/ABL

BCR/ABL1 Kinase Mutation Analysis

FLT3 Gene Mutation

NPM1 Mutation

CEBPA Mutation

KIT D816V Mutation

t(15;17) PML/RARA Translocation

t(14;18) IGH/BCL2 Translocation

B Cell (IGH) Gene Rearrangement

T Cell Gamma (TRG) Gene Rearrangement

JAK2 V617F Mutation Detection

JAK2 Exon 12 Mutations (March 2010)

Solid Tumor

PAX/FOXO1 Translocation, Alveolar Rhabdomyosarcoma

EWSR1/WT1 Translocation, DSRT

EWS/FLI1, EWS/ERG Translocations, Ewing Sarcoma

SYT/SSX Translocation, Synovial Sarcoma

EWS/ATF1 Translocation, Clear Cell Sarcoma

Microsatellite Instability Analysis

KRAS Mutation

BRAF V600E Mutation

KIT Mutation in GIST

KIT Mutation in Melanoma

HER2 FISH, Breast cancer

UroVysion FISH, Bladder cancer

Genetics/Pharacogenomics

Cystic Fibrosis Carrier Screening

Apolipoprotein E Genotyping

Hereditary Hemochromatosis Mutation Detection

Factor V Leiden Mutation Detection

Methylenetetrahydrofolate Reductase C677T Mutation

Prothrombin 20210 Mutation

UGT1A1 Promoter Genotyping

Warfarin Sensitivity Analysis

Identity Testing

Bone Marrow Transplant Engraftment Analysis

slide10

Molecular Diagnostics - Oncology

Diagnosis

Prognosis

Predict response to therapy

Monitor residual disease

slide11

Diagnosis – Ewing Sarcoma

Reverse

transcription

cDNA

EWSR1

primer

FLI1

primer

PCR

Extract

RNA

EWSR1/FLI1

~ 1 billion copies of target cDNA

slide12

PCR products

Detection

Capillary electrophoresis

EWSR1/FLI1 (Type 1)

GAPDH control

slide13

Molecular Diagnostics - Oncology

Diagnosis

Prognosis

Predict response to therapy

Monitor residual disease

slide14

Prognosis - Normal Karyotype AML

CEBPAmut

NPM1mutFLT3-ITDneg

Other genotypes

Schlenk RF et al. NEJM 358(18):1909, 2008

slide15

Prognostic Molecular Testing in AML – The UM Experience

Tests per Month

2004

2005

2006

2007

2008

2009

slide16

Molecular Diagnostics - Oncology

Diagnosis

Prognosis

Predict response to therapy

Monitor residual disease

slide17

Predict Response to Therapy: KIT Mutations in Melanoma

(4 wk)

Hodi FS et al., 2008 J Clin Oncol 26(12):2046

slide18

Molecular Diagnostics - Oncology

Diagnosis

Prognosis

Predict response to therapy

Monitor residual disease

slide19

Monitoring Residual Disease – UroVysion FISH

Malignant Urothelial Cell

Normal Urothelial Cell

CEP 3

LSI 9p21

CEP 7

CEP 17

slide20

Monitoring Residual Disease – UroVysion FISH

Case 4

History of CIS (bladder), Post Resection

Recurrence of CIS, BCG therapy, Monitoring

Cystoscopy - Negative

FISH - Positive

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