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› The 23-gene expression profile (GEP) and 35-GEP tests are clinically available, objective ancillary
diagnostic tools that facilitate diagnosis of melanocytic lesions with ambiguous histopathology. The tests
use proprietary algorithms to produce results of: suggestive of benign neoplasm; intermediate (cannot
rule out malignancy); or suggestive of malignant neoplasm with high accuracy.1-6

› Communication between the diagnosing dermatopathologist/pathologist and the treating clinician is key
to establishing appropriate patient management.7,8 There are circumstances when a dermatologist may
find additional diagnostic information helpful in determining excision and follow-up actions.9,10

A clinical impact study of dermatologists’ use of the 23- or 35-gene expression profile tests to guide 
surgical excision and enhance management plan confidence

Background

Acknowledgments & Disclosures

References

› ASF has served as a consultant for Castle Biosciences, Inc. KLA, BBR, JJS, BHR, JHR, SJK, and MSG are
employee shareholders of Castle Biosciences, Inc. The study was supported by Castle Biosciences, Inc.

Results

Aaron S Farberg, MD1, Kelli L Ahmed, PhD2, Briana B Rackley, PhD2, Jennifer J Siegel, PhD2, Brooke H Russell, PhD2, Jason H Rogers, MSc2, Sarah J Kurley, PhD2, and Matthew S Goldberg, MD2,3

1Baylor Scott & White Health System, Dallas, TX 2Castle Biosciences, Inc., Friendswood, TX 3Icahn School of Medicine at Mount Sinai, New York, NY

For more information: afarberg@castlebiosciences.com

Methods
› Clinicians were invited for study participation based on prior use of diagnostic GEP testing (minimum 3

encounters with GEP results). 32 board certified dermatologists participated in this Institutional Review
Board (IRB)-approved study. Clinicians were asked 4 questions per scenario: 1) How would you treat the
patient? (No further treatment necessary, No further treatment necessary if lesion appears completely
excised, Excise <5 mm margins (narrow but complete), Excise ≥5 mm margins (but <1 cm), Wide local
excision (Excise ≥1 cm); 2) Which follow-up schedule would you recommend? (Every 12, 6, 3 or every
month); 3) How confident are you in this management plan? (1 (not confident), 2 (slightly confident), 3
(somewhat confident), 4 (fairly confident), 5 (completely confident).

› Clinical and diagnostic information for 6 uncertain patient scenarios was provided to the clinicians (Table
1). Diagnostic information was taken from real-world pathology reports of melanocytic lesions and
displayed in mock form including the diagnosis and microscopic description. Clinical information was
based on common clinical situations that may alter patient treatment. GEP test results were either not
provided (baseline), benign, or malignant for each patient scenario. › GEP results can aid dermatologists in decision

making to achieve appropriate management
plans.

› Management changes, including surgical excisions
and follow-up frequency, were aligned with GEP
results for these uncertain clinical scenarios.

› Scenario-specific details demonstrate that a
personalized approach can be achieved with GEP.

Conclusions

Table 1. Ambiguous lesion scenarios from real-world pathology reports

Figure 1. Overall clinical impact across all ambiguous scenarios

Presented at the 42nd Annual Fall Clinical Dermatology Conference, October 20-23, 2022, Las Vegas, NV (Encore presentation in part from ASDS 2022)

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› Clinical impact was assessed by calculating the mean percent of no change, increase in change, or
decrease in change relative to no GEP results for each scenario and normalized to 100%.

Figure 2. GEP results impact surgical excision planning, including margin
decisions

Here we present dermatologist management plans and confidence utilizing 
diagnostic GEP results in uncertain clinical and diagnostic scenarios. ›.

Results

Clinical Impression Diagnosis
Included excision 
recommendation

Cosmetic site Melanocytic neoplasm, atypical melanocytic proliferation No

Cosmetic site Dysplastic nevus with features of regression Yes

Personal history of melanoma Melanocytic neoplasm, atypical melanocytic proliferation No

Personal history of melanoma Melanocytic neoplasm, deep penetrating Yes

Comorbidities Atypical intraepidermal melanocytic proliferation (AIMP) Yes

High clinical suspicion Atypical intraepidermal melanocytic proliferation (AIMP) Yes

Clinical impact: The vast 
majority of excision 

decisions and follow-up 
changes were aligned 
with GEP results across 

the uncertain scenarios. In 
addition, there was an 

increase in overall 
management plan 

confidence with a GEP 
result. 

›
Figure 3. GEP results alter follow-up frequency

› Surgical margins: When a malignant GEP result is provided, there was an increase in surgical treatment for
most scenarios. When a benign GEP result was received, there was a decreased in surgical management in
most scenarios.

› Follow-up frequency:
Shown here is a
representation of
how GEP results can
alter that cadence
resulting in a tailored
strategy.

1. Clarke, L. E. et al. J Cutan Pathol 2015. 42 (4) 244–252. 2. Clarke, L. E. et al. Cancer 2017. 123 (4) 617–628. 3.
Clarke, L. E. et al. Personalized Medicine 2020. 17 (5) 361–371. 4. Estrada, S. et al. SKIN 2020. 4 (6) 506–522. 5.
Ko, J. S. et al. Cancer Epidem Biomar Prev 2017. 26 (7) 1107–1113. 6. Ko, J. S. et al. Human Pathology 2019. 86 
213–221. 7. Smith, Shane D. B., et. al. JAMA Dermatol. 2021. 157(9):1033-1034. 8. Cockerell, C. Dermatol Surg. 
2018. 44(2):175-176. 9. Cockerell C, et al. Personalized Medicine. 2017. 14(2):123-130. 10. Farberg, A. et al.
SKIN 2020. 4 (6) 523–533.

Malignant GEP

Baseline (no GEP)

Benign GEP

Malignant GEP Baseline (no GEP)Benign GEP

Excision Follow-up Confidence

GEP Result

A
v
e
ra

g
e
 %

 C
h

a
n

g
e

Benign Benign MalignantMalignant Benign Malignant

-50

50

0

100

D
e

c
re

a
se

In
c
re

a
se

Baseline

https://castletestinfo.com/mypath-melanoma-diffdx-melanoma/scientific-references/
https://castletestinfo.com/mypath-melanoma-diffdx-melanoma/scientific-references/

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