Shim Veronica, Karlea Audrey, Brenman Leslie Manace, Gul Jamila, Hoodfar Elizabeth, Chan Tracy D, Engeman Poline C, Sheldon Vanessa M, Thorne-Hadfield Deirdre M, Odele Patience, Vuong Brooke, McEvoy Jennifer, Chang C K, Kotak Dinesh, Habel Laurel A
Department of Surgery, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA.
Department of Genetics, Oakland, Kaiser Permanente, Oakland, USA.
Ann Surg Oncol. 2025 Jan;32(1):75-83. doi: 10.1245/s10434-024-16223-7. Epub 2024 Sep 18.
This study evaluated a new mainstream genetic testing pathway for hereditary cancer, with expanded eligibility for early-stage breast cancer patients.
The study compared multigene panel (62 genes) germline testing uptake and results for breast cancer patients at 4 pilot sites (n = 502 patients) and 10 non-pilot sites (n = 1792 patients) within Kaiser Permanente Northern California from December 2020, to June 2021. At the pilot sites, breast care coordinators (BCCs) offered and consented patients for testing, with eligibility expanded to include all patients age 65 years or younger. At the non-pilot sites, eligible patients were referred to genetics for pre-test counseling, ordering, and follow-up evaluation with the standard guideline that included all patients age 45 years or younger.
Demographic and disease characteristics were similar at the pilot and non-pilot sites. At the pilot verses non-pilot sites, a higher percentage of patients was tested overall (61.6% vs 31.7%) and across all age groups. The median time from breast biopsy to test result also was reduced (22 vs 33 days, respectively). A higher percentage of patients at the pilot sites was identified as having a pathogenic/likely pathogenic variant (PV/LPV) in a breast cancer-related gene (3.6% vs 1.6%). Although the percentage of total patients tested was nearly twofold higher at the pilot sites than at the non-pilot sites, the percentage of total patients seen by genetics was estimated to be similar (33.7% vs 31.7%).
Mainstream genetic testing of breast cancer patients facilitated by BCCs makes it feasible for a large health care system to expand germline genetic testing to early breast cancer patients age 65 years or younger.
本研究评估了一种用于遗传性癌症的新型主流基因检测途径，该途径扩大了早期乳腺癌患者的适用范围。
本研究比较了2020年12月至2021年6月期间，北加利福尼亚州凯撒医疗集团内4个试点机构（n = 502例患者）和10个非试点机构（n = 1792例患者）中乳腺癌患者的多基因检测板（62个基因）种系检测接受情况和结果。在试点机构，乳腺护理协调员（BCC）为患者提供检测并取得其同意，适用范围扩大至所有65岁及以下的患者。在非试点机构，符合条件的患者被转介至遗传学部门进行检测前咨询、检测安排及后续评估，标准指南涵盖所有45岁及以下的患者。
试点机构和非试点机构的人口统计学和疾病特征相似。在试点机构与非试点机构之间，总体上以及所有年龄组中接受检测的患者比例更高（分别为61.6%和31.7%）。从乳腺活检到检测结果的中位时间也缩短了（分别为22天和33天）。试点机构中被鉴定为在乳腺癌相关基因中存在致病性/可能致病性变异（PV/LPV）的患者比例更高（3.6%对1.6%）。尽管试点机构接受检测的患者总数比例几乎是非试点机构的两倍，但估计遗传学部门接待的患者总数比例相似（33.7%对31.7%）。
由BCC推动的乳腺癌患者主流基因检测，使大型医疗系统将种系基因检测扩展至65岁及以下早期乳腺癌患者成为可能。
