Quality improvement initiative leveraging tumor sequencing results to increase genetics referrals.
Authors: Michelle F. Jacobs, Elizabeth K. Spranger, Rashmi Chugh, Erin Frances Cobain, John C. Krauss, Denise Leung, Zachery R. Reichert, Vaibhav Sahai, Scott Schuetze, Julie Wright Nunes
Journal: Journal of Clinical Oncology (2024)

e23247 Background: Tumor sequencing can incidentally detect potential germline findings. Some laboratories include notifications on tumor sequencing reports about potential germline findings, but it is unknown how often these findings are acted on. It has been previously documented that these notices can help identify patients with hereditary cancer syndromes who may not otherwise undergo germline analysis due to a lack of personal/family history (phx/fhx) indication for genetics referral. After noting low numbers of referrals for patients with potential germline findings identified via tumor sequencing, we implemented an initiative to improve recognition of these findings as an indication for germline testing. Methods: Tumor sequencing reports for patients tested through two laboratories that include notifications of potential germline findings were reviewed. To assess germline referral rates for this indication, we identified patients with a potential germline finding noted on their report who did not have a prior referral for germline testing. Data were abstracted from laboratory portals and the electronic medical record (EMR). The initiative was developed by individuals with expertise in genetics, oncology, and quality improvement, and consisted of educational presentations at tumor boards and written resources. We compared referral rates in this patient population pre-initiative (PreI) and post-initiative (PostI) using Fisher Exact test. Data for the PreI patient cohort were from a pilot study of 4 clinics (5/2022-8/2022) while PostI data included all oncology clinics (2/2023-1/2024). Results: In the PreI cohort, 0/2 (0%) patients with a potential germline finding identified (and no other phx/fhx indication for referral) were referred for germline testing. Potential germline findings in the PreI cohort were not noted by the clinical team in the EMR. PostI, 11 patients undergoing tumor sequencing had a potential germline finding identified with no prior genetics referral; 5 were referred for germline testing and for 2 the finding was documented in the EMR, but the patient declined referral. In total, this was identified as an indication for referral in 7/11 (63.6%) patients PostI (p = 0.20). Conclusions: Tumor sequencing offers an opportunity to identify patients with hereditary cancer risk who may not meet classic phx/fhx criteria for germline testing. An initiative at our center was implemented to assist oncology providers in recognizing these referrals. While there was improvement in referral rates after the initiative, this was not significantly different, likely due to the small sample size. Analysis of our PostI cohort indications also showed that these potential germline findings are still not being consistently recognized by oncology providers, indicating a different or multi-pronged approach to identify patients with this indication for germline referral may be needed.