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Breast Cancer Recurrence Risk Assessment Using Gene Expression Profiling
Summary:
1. Patient is diagnosed with node-negative, estrogen-receptor-positive
invasive breast cancer.
2. Gene expression profiling tests are helpful in predicting risk of cancer
reoccurrence and influence therapy. Patients with low risk of cancer
reoccurrence may be successfully treated with tamoxifen and may not
require adjuvant chemotherapy. While patients with high risk of
cancer reoccurrence should be treated more aggressively, receiving
adjuvant chemotherapy.
3. Informed consent is obtained.
4. The test is ordered. A slide specimen of the breast cancer is sent to
the lab with the order.
5. In the lab, a sample is prepared, RNA extracted, test run and
analyzed.
6. The results are reported and received.
7. Treatment plan drafted.
Detail:
Eve Everywoman, a 30-year-old female is diagnosed with node negative, estrogenreceptor-positive invasive breast cancer. Dr. Trudy Tumor orders a breast cancer
reoccurrence risk test (that uses gene expression profiling) to evaluate Eve
Everywoman’s risk for breast cancer reoccurrence and help determine need for
adjuvant chemotherapy. A tumor sample and requisition form (which includes
reason for testing) are sent to the molecular diagnostic laboratory. The test is run.
A report created by the molecular diagnostic laboratory that includes the reason for
testing, note of somatic/germline, and the overall test interpretation code (Low
Recurrence Risk, Intermediate Recurrence Risk, or High Recurrence Risk). The
results and report are reviewed by the molecular geneticist and released. The report
and data values are sent from to the EHR system for viewing by the doctor. The
physician and patient discuss the test results (documented), and appropriate
treatment plans are outlined (documented).
Triggers:

Patient is diagnosed with node-negative, estrogen-receptor-positive
invasive breast cancer.
Data:
1. Diagnosis.
o Biopsy results
o Estrogen receptor status
2. Informed consent document.
o Supplementary educational materials
o Patient signature (or clinician’s signature with patient
consent)
3. Lab order
o Orderable in formulary
o Test prerequisites
o Protocol/workflow
4. Lab result
o Interpretation code (for the sub-findings and overall test
result)
o Results data appropriate for clinical reporting (to be
determined)
5. Genetic Report with narrative description of findings,
interpretation, testing method, and references
This storyboard is also supported by the following Domain Analysis Model
in UML. ADD LINK HERE WHEN DAM IS AVAILABLE
Messages in this storyboard will be derived from models that refine other
balloted models, most likely the Lab model (the refinement process is still
a work in progress). The following bird's eye view of such a model is
meant for illustration purposes only and is not part of the normative ballot.
ADD LINK TO DOCUMENT HERE.
It demonstrates how the Gene Expression fits into that model based on
the storyboard requirements.