Bridging the gap: ctDNA, genomics, and equity in breast cancer care

Area of Science:

• Oncology
• Genomics
• Health Equity

Background:

• Circulating tumor DNA (ctDNA) is a noninvasive tool for precision oncology, aiding tumor profiling, minimal residual disease (MRD) detection, and treatment monitoring in breast cancer.
• Despite its promise in metastatic and early-stage breast cancer, the benefits of ctDNA are not equitably distributed across all patient populations.

Purpose of the Study:

• To review current evidence on ctDNA detection, assay performance, and clinical utility in racially, ethnically, and geographically underrepresented populations.
• To identify disparities in ctDNA utilization and access to genotype-matched therapies, considering structural barriers and global implementation challenges.

Main Methods:

• Synthesized data from genomic studies, ctDNA-based clinical trials, and implementation research.
• Examined disparities in ctDNA levels, mutational profiles, testing utilization, and access to targeted therapies.
• Incorporated global data, including from low- and middle-income countries, on ctDNA implementation feasibility and challenges.

Main Results:

• Identified significant disparities in ctDNA testing utilization and access to genotype-matched therapies among underrepresented populations.
• Highlighted structural barriers including insurance coverage, geographic access, and underrepresentation in clinical research.
• Confirmed feasibility but also challenges of ctDNA implementation in resource-constrained settings globally.

Conclusions:

• ctDNA holds substantial potential for personalizing breast cancer care across diverse settings.
• Urgent need to integrate equity into ctDNA validation, clinical application, and policy development to prevent exacerbating existing health disparities.