Breast CancerRecurrence RiskAssessment 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. Thetest 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, estrogen-receptor-positive invasive breast cancer. Dr. TrudyTumor 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.
  2. Biopsy results
  3. Estrogen receptor status
  4. Informed consent document.
  5. Supplementary educational materials
  6. Patient signature (or clinician’s signature with patient consent)
  7. Lab order
  8. Orderable in formulary
  9. Test prerequisites
  10. Protocol/workflow
  11. Lab result
  12. Interpretation code (for the sub-findings and overall test result)
  13. Results data appropriate for clinical reporting (to be determined)
  14. 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.