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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.
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页码:91 / 97
页数:7
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