Diagnostic Outcomes among Patients with Positive Multi-Cancer Early Detection Test Results.

Area of Science:

• Oncology
• Genomics
• Medical Diagnostics

Background:

• Multi-cancer early detection (MCED) tests offer a novel approach to identifying multiple cancers from a single screening.
• The Dana-Farber Cancer Institute (DFCI) launched a dedicated program in December 2023 to manage and study patients with positive MCED test results.

Purpose of the Study:

• To evaluate the outcomes of patients with a positive MCED test signal undergoing diagnostic evaluation.
• To assess the diagnostic accuracy and timeliness of cancer detection following a positive MCED test.

Main Methods:

• A prospective case series involving patients with a positive Grail Galleri® MCED test result.
• Data collection focused on cancer diagnosis confirmation, time to resolution, and accuracy of the predicted cancer signal origin (CSO).

Main Results:

• Of 14 patients with a positive MCED test, 78.6% were diagnosed with cancer; 21.4% were false positives.
• Median time to diagnostic resolution was 20 days after presentation to the DFCI MCED clinic.
• Confirmed cancers included solid tumors (54.5%) and hematologic malignancies (45.5%), with many lacking current screening guidelines.

Conclusions:

• Positive MCED test signals frequently indicate true cancer, often at early stages (I/II).
• A dedicated clinical program facilitates rapid adjudication of MCED test results, integrating diagnostic expertise.
• MCED tests show potential for early cancer identification, particularly for cancers without existing screening methods.