Is It Time to Expand Our Definition of "Clinical Utility"?

Area of Science:

• Oncology
• Genetics
• Molecular Diagnostics

Background:

• Standard-of-care guidelines require proven "clinical utility" for recommending genetic tests in cancer care.
• Most patients are denied genetic testing for cancer predisposition or recurrence due to a narrow definition of clinical utility.
• Existing genetic tests accurately identify carriers of pathogenic germline variants (PGVs) and circulating tumor DNA (ctDNA) can predict cancer recurrence.

Purpose of the Study:

• To discuss reasons why genetic tests lack proven clinical utility under current definitions.
• To present evidence supporting a broader definition of clinical utility for genetic testing.
• To highlight the benefits of expanded clinical utility for patient care in oncology.

Main Methods:

• Review of current definitions of clinical utility in cancer genetic testing.
• Analysis of evidence demonstrating the accuracy and utility of germline genetic testing and ctDNA assays.
• Discussion of disparities in patient access to genetic testing.

Main Results:

• Current definitions of clinical utility restrict the recommendation of valuable genetic tests.
• Germline testing and ctDNA assays are highly accurate biomarkers for cancer risk and recurrence.
• A significant gap exists between the proven accuracy of tests and their clinical recommendation.

Conclusions:

• The current definition of clinical utility is a barrier to patient access to important genetic tests.
• Expanding the definition of clinical utility is essential to improve cancer prevention, early diagnosis, and monitoring.
• Broader adoption of genetic testing will benefit a larger patient population in oncology.