e15741 Background: In 2022, the NCCN expanded guidelines to recommend universal germline genetic testing for patients diagnosed with early-onset colorectal cancer (EOCRC), independent of family history or tumor-based criteria. This change was prompted by evidence that approximately one in six patients with EOCRC harbor pathogenic germline variants. Real-world utilization and timeliness of germline testing following this guideline expansion remain incompletely characterized. We hypothesized that EOCRC patients diagnosed after the 2022 NCCN update would have higher rates of genetic counseling, germline testing completion, and shorter time to testing compared with patients diagnosed previously. Methods: We conducted a retrospective cohort study of patients with EOCRC who presented to Moffitt Cancer Center between 2016-2025 (n = 140). Patients were stratified by diagnosis date relative to the date the expanded NCCN guidelines were published (pre-4/2022 vs post-4/2022). The primary endpoint was completion of germline genetic counseling, and key secondary endpoint was time from diagnosis to testing completion. Comparisons between cohorts were performed using nonparametric statistical tests, with p < 0.05 considered significant. Results: Of the 140 patients with EOCRC, genetic counseling was completed in 49/101 (48.5%) diagnosed before 4/2022 compared with 29/39 (74.4%) diagnosed after 4/2022 (p = 0.0029). Restricting the pre-guideline cohort to 1/2019–4/2022 yielded similar results (55.6% vs 74.4%, p = 0.0316). Median time from diagnosis to testing completion decreased following guideline expansion (5.00 months vs 2.07 months, p = 0.0047). In the 1/2019-4/2022 cohort, median time to testing was 3.63 months, significantly longer than post-4/2022 (p = 0.043). The rate of genetic counseling rose significantly following the publication of updated NCCN guidelines.from 56.4% in 2019-2022 to 80.6% in 2023-2025 (p = 0.013). Conclusions: Our findings demonstrate improved utilization and timeliness of germline genetic testing following the 2022 NCCN guideline update. Rate of genetic counseling increased, and time from diagnosis to testing was shorter. Pandemic-related disruptions may have contributed to delays, but universal testing was not achieved even post-COVID. Documented barriers included transitions to hospice, missed appointments, and incomplete multi-step testing workflows. Timely germline testing is critical as results inform early management decisions and enable cascade testing for at-risk relatives. Future efforts should focus on system-level implementation strategies such as opt-out testing, point-of-care consent and sample collection, automated referral workflows, and remote genetic counseling models to improve equitable and timely germline testing in EOCRC.
Shostak et al. (Thu,) studied this question.