1. The Center for Personalized Diagnostics: Past, Present, and FUTURE

2. ALL in for ALL Patients: A Campaign for the CPD
Campaign Goals:
Sequence every ACC patient’s DNA
Find more mutations
Build out biobanks
Make information accessible to all physicians
Talking Points: How can the CPD help better treat ALL of our patients?
The CPD is expanding patient populations that can benefit from CPD testing, while simultaneously advancing technology to enhance testing capabilities.

3. Center for Personalized Diagnostics: Lung Cancer
11% of patients analyzed by the CPD have
been Lung Cancer Patients.
The CPD tests tumor tissue for mutations
relevant for immediate treatment and those
that indicate possible resistance.
What’s in Store for the Future:
LUNG CANCER TARGETS
EGFR ALK
ROS1  ERBB2 
BRAF PIK3CA
And more to be
discovered
Next Generation Tests
More Actionable Mutations Found
Improved Targeted Therapies
Better Clinical Outcomes

4. Center for Personalized Diagnostics: GI Cancer
10.5% of patients analyzed by the CPD have been GI Cancer Patients.
The CPD is currently testing tumors for mutations that help find targeted therapies
GI CANCER TARGETS
KRAS EGFR
BRCA CKIT
BRAF
And more to be
discovered
What’s in Store for the Future:
Next Generation Tests
More Actionable Mutations Found
Improved Combined Targeted Therapies
More Clinical Trial Options
Talking points for Gift officers: What specific therapies, and combined therapies, are being used when targetable mutations are discovered?
These genes are on the solid V2 CPD panel.

5. Center for Personalized Diagnostics: Brain Cancer
7.0% of patients analyzed by the CPD
are Brain/CNS Cancer Patients.
The CPD tests for
mutations with targetable treatments,
as well as mutations that help establish the
patient’s diagnosis.
BRAIN CANCER TARGETS
EGFR BRAF
ATRX IDH1/2
And more to be
discovered
What’s in Store for the Future:
Next Generation Tests
More Actionable Mutations Found
Improved Targeted Therapies
More Clinical Trial Options
Talking points for Gift officers: What specific therapies are being used when targetable mutations are discovered?
(e.g CAR-T therapy against EGFR vIII mutation; ongoing trial at PENN)
(e.g. FGFR inhibitors; Dovitinib) etc)
Additional genes now on the solid V2 CPD panel.

6. Center for Personalized Diagnostics: Myeloid Leukemia
2.8% of patients analyzed by the CPD
Are Acute Myeloid Cancer Patients
The CPD tests for
mutations that have prognostic, therapeutic,
relapse, and monitoring implications.
MYELOID TARGETS
TP FLT3 PTEN
NPM1 DNMT3a
CKIT JAK2
And more to be
discovered
What’s in Store for the Future:
Next Generation Tests
More Actionable Mutations Found
Improved Targeted Therapies
More Clinical Trial Options
Talking points for Gift officers: What specific therapies are being used when targetable mutations are discovered?

7. Center for Personalized Diagnostics: CLL, MM, and Lymphoma
Current broad CPD panel to evaluate for CLL, MM, and Lymphoma Cancer Patients.
The CPD needs to create specific, discrete panels for CLL, MM and Lymphoma.
What is the status on CLL and MM tests/targets?
What are the prognostic, therapeutic,
relapse, and/or monitoring implications of
mutation discovery?
LYMPHOMA TARGETS
TP PIK3CA PTEN
BTK PLCG2
MYD88 BRAF
JAK1/3 STAT3/5
And more to be
discovered
What’s in Store for the Future:
Talking point: What specific therapies are being used when targetable mutations are discovered?
In CLL, BTK mutations result in resistance to BTK inhibitors such as Ibrutinib. Such patients may benefit from BCL2 inhibitors e.g. Venetoclax or SYK inhibitors (e.g. Entosplenitib)
Next Generation Tests
More Actionable Mutations Found
Improved Targeted Therapies
More Clinical Trial Options

8. Center for Personalized Diagnostics: Breast Cancer
12.7% of patients analyzed by the CPD
have been Breast Cancer patients.
What is the status on breast cancer
tests/targets?
What are the prognostic, therapeutic,
relapse, and/or monitoring implications of
mutation discovery?
BREAST CANCER TARGETS
erbB, BRCA1/2, MET
AKT1/2/3 CDKN2A
MDM2 PDGFRA
And more to be
discovered
What’s in Store for the Future:
Next Generation Tests
More Actionable Mutations Found
Improved Targeted Therapies
More Clinical Trial Options
Talking points for Gift officers: What specific therapies are being used when targetable mutations are discovered?
erbB (inhibitors can be used for erbB-mutated breast cancers.
These genes are on the solid V2 CPD panel.

9. Center for Personalized Diagnostics: Ovarian Cancer
Only 1% of patients analyzed by the CPD
have been ovarian Cancer Patients.
What is the status on ovarian cancer
tests/targets?
What are the prognostic, therapeutic,
relapse, and/or monitoring implications of
mutation discovery?
OVARIAN CANCER TARGETS
BRCA1/2, RET
AKT1/2/3 CDKN2A
MDM2 PDGFRA
And more to be
discovered
What’s in Store for the Future:
Next Generation Tests
More Actionable Mutations Found
Improved Targeted Therapies
More Clinical Trial Options
Talking points for Gift officers: What specific therapies are being used when targetable mutations are discovered?
These genes are on the solid V2 CPD panel.

10. Center for Personalized Diagnostics: BRCA
40% of patients on which BRCA1/2 testing was
done by the CPD showed disease-associated
mutations
- 25% of breast cancers tested
- 55% of GI cancers tested
How is the CPD utilizing BRCA mutation
across different cancer types?
What are the prognostic, therapeutic,
relapse, and/or monitoring implications of
mutation discovery?
BRCA CANCERS
Breast Ovarian
Pancreatic GI
Talking points for Gift officers: What specific therapies are being used when targetable mutations are discovered?
BRCA mutations are relevant for patients who has Breast cancer, Ovarian cancer, Pancreatic cancer and other GI cancers.
Next Generation Tests
More Actionable Mutations Found
Improved Targeted Therapies
More Clinical Trial Options
What’s in Store for the Future:

11. Center for Personalized Diagnostics: Melanoma
11.4% of patients analyzed by the CPD have been
Melanoma Patients.
What is the status on melanoma
tests/targets?
What are the prognostic, therapeutic,
relapse, and/or monitoring implications of
mutation discovery?
MELANOMA TARGETS
BRAF PTEN
NRAS NF1
PIK3CA TERT
And more to be
discovered
What’s in Store for the Future:
Talking points for Gift officers: What specific therapies are being used when targetable mutations are discovered?
BRAF mutations can be treated using (e.g. vemurafenib).
These genes are on the solid V2 CPD panel.
Next Generation Tests
More Actionable Mutations Found
Improved Targeted Therapies
More Clinical Trial Options

12. Center for Personalized Diagnostics: Sarcoma
Less than 1% of patients analyzed by the CPD have been
Sarcoma Patients.
What is the status on sarcoma tests/targets?
What are the prognostic, therapeutic,
relapse, and/or monitoring implications of
mutation discovery?
SARCOMA TARGETS
MET PIK3CA PTPRD
TP53 PDGFRA FOXO1-PAX3/7
And more to be
discovered
What’s in Store for the Future:
Talking points for Gift officers: What specific therapies are being used when targetable mutations are discovered?
Gene fusion identification can help assess prognosis: FOXO1-PAX3 gene fusion is associated with worse prognosis than FOXO1-PAX7 gene fusion
Gene fusion identification can help establish a diagnosis of a specific subtype of sarcoma
Next Generation Tests
More Actionable Mutations Found
Improved Targeted Therapies
More Clinical Trial Options

13. Center for Personalized Diagnostics: GU Cancers
17.0% of patients analyzed by the CPD have been
GU Cancer Patients.
What is the status on GU tests/targets?
What are the prognostic, therapeutic,
relapse, and/or monitoring implications of
mutation discovery?
GU TARGETS
TERT FGFR3
RAS PIK3CA
And more to be
discovered
What’s in Store for the Future:
Talking points for Gift officers: What specific therapies are being used when targetable mutations are discovered?
These genes are on the solid V2 CPD panel.
Detection of mutations in GU cancer can be applied to urine samples as an alternative to cytoscopy
Specific mutations are associated with prognosis
TERT and FGFR3 mutations are associated with recurrence of disease
Next Generation Tests
More Actionable Mutations Found
Improved Targeted Therapies
More Clinical Trial Options

14. Center for Personalized Diagnostics: Head and Neck Cancers
6% of patients analyzed by the CPD have been
Head and Neck Cancer Patients.
What is the status on Head and Neck cancer
Tests/targets?
What are the prognostic, therapeutic,
relapse, and/or monitoring implications of
mutation discovery?
HEAD AND NECK TARGETS
EGFR BRAF
KRAS PIK3CA
And more to be
discovered
What’s in Store for the Future:
Talking points for Gift officers: What specific therapies are being used when targetable mutations are discovered?
These genes are on the solid V2 CPD panel.
Next Generation Tests
More Actionable Mutations Found
Improved Targeted Therapies
More Clinical Trial Options

15. Center for Personalized Diagnostics: Neuroendocrine tumors (NETs)
1.5% of patients analyzed by the CPD have been
NETs Patients.
What is the status on NETs
tests/targets?
What are the prognostic, therapeutic,
relapse, and/or monitoring implications of
mutation discovery?
NET Cancer TARGETS
ATRX MEN1 ASCL1
TP53 MTOR PIK3CA
And more to be
discovered
What’s in Store for the Future:
Talking points for Gift officers: What specific therapies are being used when targetable mutations are discovered?
Aggressive neuroendocrine tumors with BRAF mutations may be responsive to BRAF-MEK inhibitor combination therapy (e.g. Dabrafenib+trametib)
These genes are on the solid V2 CPD panel.
Next Generation Tests
More Actionable Mutations Found
Improved Targeted Therapies
More Clinical Trial Options

16. Center for Personalized Diagnostics: Thyroid Cancer
7.3% of patients analyzed by the CPD have been
Thyroid Cancer Patients.
What is the status on thyroid tests/targets?
How is the CPD partnering with the Center for
Rare Cancers and Personalized Therapy?
What are the prognostic, therapeutic,
relapse, and/or monitoring implications of
mutation discovery?
THYROID TARGETS
BRAF RET ALK
PIK3CA, NTRK1/3
TP53
And more to be
discovered
What’s in Store for the Future:
Talking points for Gift officers: What specific therapies are being used when targetable mutations are discovered?
These genes are on the solid V2 CPD panel.
Next Generation Tests
More Actionable Mutations Found
Improved Targeted Therapies
More Clinical Trial Options

17. Center for Personalized Diagnostics: Cutaneous T cell Lymphoma (CTCL)
0 % of patients analyzed by the CPD have
Been CTCL Patients.
What is the status on CTCL tests/targets?
What are the prognostic, therapeutic,
relapse, and/or monitoring implications of
mutation discovery?
CTCL TARGETS
JAK1/3 STAT3/5
TYK2 TP53 BRAF
PLCG2 PTEN
And more to be
discovered
What’s in Store for the Future:
Talking points for Gift officers: What specific therapies are being used when targetable mutations are discovered?
JAK1-mutated CTCLs may be treated using Jak inhibitors (e.g. Ruxolitinib)
Next Generation Tests
More Actionable Mutations Found
Improved Targeted Therapies
More Clinical Trial Options

18. The Future of the CPD
Advance current technology to better locate mutations and understand how mutations work together
Coordination of tissue procurement
Enhance bioinformatic support
Automation of work flow
New sequencing equipment
Integration of laboratory information system with EPIC
Build technology to detect Circulating Tumor Cells
Develop testing platforms to detect circulating tumor DNA for all solid tumors
Resources to recruit, educate, train, and retain bioinformatics experts
Recruit additional scientists in bioinformatics and computational diagnostics
Establish training programs in computational personalized diagnostics