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
相关论文
共 50 条
  • [21] Socioeconomic and demographic barriers associated with delays in pancreatic cancer germline genetic testing
    Zou, Xianghui
    Sidiqi, Baho
    Tortorella, Brooke
    Patruni, Sunita
    Rezak, Leora
    Alfano, Catherine M.
    Hollweg, Christopher
    Kauff, Noah D.
    King, Daniel
    JOURNAL OF CLINICAL ONCOLOGY, 2023, 41 (16)
  • [22] Socioeconomic disparities causing delays in pancreatic cancer germline genetic testing.
    Zou, Xianghui
    King, Daniel
    Sidiqi, Baho
    Patruni, Sunita
    Hollweg, Christopher
    Kauff, Noah D.
    JOURNAL OF CLINICAL ONCOLOGY, 2023, 41 : 665 - 665
  • [23] Implementing Systematic Genetic Counseling and Multigene Germline Testing for Individuals With Pancreatic Cancer
    Chittenden, Anu
    Haraldsdottir, Sigurdis
    Ukaegbu, Chinedu
    Underhill-Blazey, Meghan
    Gaonkar, Shraddha
    Uno, Hajime
    Brais, Lauren K.
    Perez, Kimberly
    Wolpin, Brian M.
    Syngal, Sapna
    Yurgelun, Matthew B.
    JCO ONCOLOGY PRACTICE, 2021, 17 (02) : E236 - E247
  • [24] Germline Genetic Testing in Patients with Lung Cancer in a Mexican Center
    Pacheco-Cuellar, G.
    Valdez-Andrade, J. J.
    Rodriguez-Montoya, H.
    Campos-Gomez, S.
    JOURNAL OF THORACIC ONCOLOGY, 2021, 16 (10) : S1181 - S1182
  • [25] Integration of Germline Genetic Testing Into Routine Clinical Practice for Patients With Pancreatic Adenocarcinoma
    Lau-Min, Kelsey S.
    Symecko, Heather
    Spielman, Kelsey
    Mann, Derek
    Hood, Ryan
    Rathore, Srishti
    Wolfe, Catherine
    Gabriel, Peter E.
    Rendle, Katharine A.
    Nathanson, Katherine L.
    Reiss, Kim A.
    Domchek, Susan M.
    JCO ONCOLOGY PRACTICE, 2025, 21 (02)
  • [26] Germline genetic testing in unselected pancreatic ductal adenocarcinoma (PDAC) patients.
    Peters, Mary Linton Bounetheau
    Brand, Randall
    Borazanci, Erkut Hasan
    Stobie, Lindsey
    Dudley, Beth
    Karloski, Eve
    Moser, A. James
    Colvin, Arlene
    Lim, Cynthia
    Bahary, Nathan
    Sun, Weijing
    Rhee, John C.
    Lembersky, Barry C.
    Stoller, Ronald G.
    LaDuca, Holly
    Dolinsky, Jill S.
    Dalton, Emily
    Speare, Virginia
    Black, Mary Helen
    Tung, Nadine M.
    JOURNAL OF CLINICAL ONCOLOGY, 2017, 35
  • [27] Germline testing in patients with early-onset pancreatic cancer (EOPC).
    Ehsan, Hamid
    Symanowski, James Thomas
    Krishnan, Arunkumar
    Athens, Aly
    Wilson, Katherine
    Tobik, Katie
    Elrefai, Sara
    Salem, Mohamed E.
    Hwang, Jimmy J.
    Chang, Darryl
    Kadakia, Kunal C.
    JOURNAL OF CLINICAL ONCOLOGY, 2024, 42 (3_SUPPL) : 639 - 639
  • [28] Ethnic disparities among pancreatic cancer patients undergoing germline testing
    Velazquez, Ana, I
    Ramirez, Carolina Bernabe
    Kwon, Daniel H.
    Leibrandt, Ryan
    Duma, Narjust
    CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2020, 29 (06)
  • [29] Mainstreaming genetic testing
    Ebzery, Camron
    ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY, 2020, 16 : 77 - 77
  • [30] ON THE ROAD TO MAINSTREAMING: GENETIC TESTING FOR OVARIAN CANCER PATIENTS WITHIN AN ONCOLOGY SETTING
    Kentwell, Maira
    Wrede, D.
    Antill, Y. C.
    McNally, O. M.
    Hamilton, A.
    Ananda, A.
    Dow, E.
    Lindeman, G. J.
    Scott, C.
    ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY, 2016, 12 : 76 - 76