Implementing universal upfront multi-gene panel testing in endometrial cancer: From cost to practical considerations

Area of Science:

• Oncology
• Genetics
• Health Economics

Background:

• Endometrial cancer (EC) diagnosis can be improved by germline genetic testing.
• Current methods may miss Lynch syndrome (LS) and other hereditary cancer predispositions.

Purpose of the Study:

• To evaluate an upfront multi-gene panel testing (MGPT) algorithm for newly diagnosed EC patients.
• To compare the cost-effectiveness and diagnostic yield of MGPT versus current universal mismatch repair (MMR) immunohistochemistry (IHC).

Main Methods:

• A decision analysis model was used.
• Compared costs and diagnostic outcomes of upfront MGPT versus standard MMR IHC for EC.

Main Results:

• The MGPT algorithm showed a cost saving of $259 per patient, totaling $17.1M annually.
• MGPT identified 660 additional LS cases and 660 additional BRCA1/2 variant cases per year.
• These cases would be missed by the current MMR IHC algorithm.

Conclusions:

• Universal upfront MGPT is a cost-effective strategy for newly diagnosed EC.
• It improves the detection of LS and other high-penetrance cancer susceptibility genes.
• This approach enhances genetic counseling access and promotes health equity for EC patients.