Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake

被引:16
|
作者
Ramsey, Mitchell L. [1 ]
Tomlinson, Jewel [2 ]
Pearlman, Rachel [2 ]
Abushahin, Laith [3 ]
Aeilts, Amber [2 ]
Chen, Hui-Zi [3 ]
Chen, Yan [3 ]
Compton, Ashley [3 ]
Elkhatib, Rifat [3 ]
Geiger, Levi [3 ]
Hays, John [3 ]
Jeter, Joanne [3 ]
Jin, Ning [3 ]
Malalur, Pannaga [3 ]
Roychowdhury, Sameek [3 ]
Ruple, Jessica [3 ]
Prebish, Jennifer [3 ]
Stanich, Peter P. [1 ]
Hampel, Heather [2 ,4 ]
机构
[1] Ohio State Univ, Div Gastroenterol Hepatol & Nutr, Wexner Med Ctr, Columbus, OH 43210 USA
[2] Ohio State Univ, Dept Internal Med, Wexner Med Ctr, Columbus, OH 43210 USA
[3] Ohio State Univ, Div Med Oncol, Wexner Med Ctr, Columbus, OH 43210 USA
[4] Ohio State Univ, Comprehens Canc Ctr, 2012 Kenny Rd,Room 257, Columbus, OH 43221 USA
关键词
BRCA1; 2; PALB2; Pancreatic ductal adenocarcinoma; Healthcare delivery; SERVICE DELIVERY; MUTATIONS; MODELS; RISK;
D O I
10.1007/s10689-022-00300-5
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Germline genetic testing is recommended for all patients with pancreatic cancer (PC) but uptake rates are low. We implemented a mainstreaming program in oncology clinics to increase testing for PC patients. Genetic counselors trained oncology providers to offer a standardized multigene panel and obtain informed consent using an educational video. Pre-test genetic counseling was available upon request. Otherwise, patients with identified pathogenic variants, strong family history, or questions regarding their results were referred for post-test genetic counseling. We measured rates of testing and genetic counseling visits. From September 2019 to April 2021, 245 patients with PC underwent genetic testing. This represents a 6.5-fold increase in germline testing volume (95% confidence interval 5.2-8.1) compared to previous years. At least one pathogenic or likely pathogenic variant (PV/LPV) was found in 34 (13.9%) patients, including 17 (6.9%) PV/LPVs in high or moderate risk genes and 18 (7.3%) in low risk or recessive genes. Five (2.0%) PVs had implications on treatment selection. 22 of the positive patients (64.7%) and an additional 8 PC patients (1 negative, 3 VUS, and 4 pre-test) underwent genetic counseling during the study period. Genetic counselors saw 2.0 PC patients/month prior to this project, 1.6 PC patients/month during this project, and would have seen 2.2 PC patients/month if all patients with pathogenic variants attended post-test counseling. Conclusions Mainstreaming genetic testing expands access for PC patients without overwhelming genetic counseling resources.
引用
收藏
页码:91 / 97
页数:7
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