Genomic Analysis Using Liquid Biopsy: Considerations for Pretest Counseling in UK Practice

Modern cancer diagnostics is heavily reliant on molecular data. Next-generation sequencing using liquid biopsy (LB) is primarily focused on identifying predictive and prognostic biomarkers to guide systemic therapy decision making. However, additional findings including genomic variants of possible or probable germline origin are detected in a significant minority of patients (3%-18%), with significant implications for patients and their families. Pretest information provision regarding both the purpose and potential benefits of the test and additional findings on LB varies in clinical practice, with little guidance for clinicians regarding the degree of detail required regarding possible additional findings. LB requires explicit disclosure of these aspects. Implementing a standardized, context-dependent approach to this discussion, with nationally standardized information provision tools, should be prioritized to enable patient-centered decision making regarding LB, without prioritizing the incidentalome over the primary purpose of the test-refining and optimizing treatment options.