Implementing Systematic Genetic Counseling and Multigene Germline Testing for Individuals With Pancreatic Cancer

被引:29
作者
Chittenden, Anu [1 ]
Haraldsdottir, Sigurdis [1 ,2 ,3 ]
Ukaegbu, Chinedu [1 ]
Underhill-Blazey, Meghan [1 ,2 ,4 ]
Gaonkar, Shraddha [1 ]
Uno, Hajime [1 ]
Brais, Lauren K. [1 ]
Perez, Kimberly [1 ,2 ,3 ]
Wolpin, Brian M. [1 ,2 ,3 ]
Syngal, Sapna [1 ,2 ,3 ]
Yurgelun, Matthew B. [1 ,2 ,3 ]
机构
[1] Dana Farber Canc Inst, Boston, MA 02115 USA
[2] Harvard Med Sch, Boston, MA 02115 USA
[3] Brigham & Womens Hosp, Boston, MA 02115 USA
[4] Univ Rochester, Rochester, NY USA
关键词
D O I
10.1200/OP.20.00678
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
PURPOSE National guidelines recommend genetic counseling and multigene germline testing (GC/MGT) for all patients with pancreatic ductal adenocarcinoma (PDAC). This study's aim was to assess real-world effectiveness of implementing systematic GC/MGT for all patients with PDAC at a high-volume academic institution. METHODS An iterative process for systematizing GC/MGT was developed in which gastrointestinal oncology providers at the Dana-Farber Cancer Institute were recommended to refer all patients with PDAC for GC/MGT (clinician-directed referral). Workflows were subsequently changed such that patients with PDAC were automatically offered GC/MGT when scheduling their initial oncology consultation (automated referral). Clinical and germline data were collected on a consecutive cohort of patients with PDAC undergoing GC/MGT during a 25-month enrollment period (19-month clinician-directed referrals; 6-month automated referrals). RESULTS One thousand two hundred fourteen patients with PDAC were seen for initial oncologic evaluation, 266 (21.9%) of whom underwent GC/MGT. Compared with baseline clinician-directed referrals, implementation of automated referrals led to a significant increase in patients with PDAC undergoing GC/MGT (16.5% v 38.0%, P<.001), including those undergoing multigene germline testing (MGT) <= 7 days of initial oncology evaluation (14.7% v 60.3%, P<.001), with preserved pathogenic variant detection rates (10.0% v 11.2%, P=0.84). 16 of 28 (57.1%) pathogenic variant carriers had relatives who pursued cascade germline testing, and 13 of 26 (50.0%) carriers with incurable disease received targeted therapy based on MGT results. CONCLUSION Implementation of systematic GC/MGT in patients with PDAC is feasible and leads to management changes for patients with PDAC and their families. GC/MGT workflows that bypass the need for clinician referral result in superior uptake and time to testing. Further investigation is needed to identify other barriers and facilitators of universal GC/MGT. (C) 2021 by American Society of Clinical Oncology
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页码:E236 / E247
页数:12
相关论文
共 34 条
[1]   Real-time Genomic Characterization of Advanced Pancreatic Cancer to Enable Precision Medicine [J].
Aguirre, Andrew J. ;
Nowak, Jonathan A. ;
Camarda, Nicholas D. ;
Moffitt, Richard A. ;
Ghazani, Arezou A. ;
Hazar-Rethinam, Mehlika ;
Raghavan, Srivatsan ;
Kim, Jaegil ;
Brais, Lauren K. ;
Ragon, Dorisanne ;
Welch, Marisa W. ;
Reilly, Emma ;
McCabe, Devin ;
Marini, Lori ;
Anderka, Kristin ;
Helvie, Karla ;
Oliver, Nelly ;
Babic, Ana ;
Da Silva, Annacarolina ;
Nadres, Brandon ;
Van Seventer, Emily E. ;
Shahzade, Heather A. ;
St Pierre, Joseph P. ;
Burke, Kelly P. ;
Clancy, Thomas ;
Cleary, James M. ;
Doyle, Leona A. ;
Jajoo, Kunal ;
McCleary, Nadine J. ;
Meyerhardt, Jeffrey A. ;
Murphy, Janet E. ;
Ng, Kimmie ;
Patel, Anuj K. ;
Perez, Kimberly ;
Rosenthal, Michael H. ;
Rubinson, Douglas A. ;
Ryou, Marvin ;
Shapiro, Geoffrey I. ;
Sicinska, Ewa ;
Silverman, Stuart G. ;
Nagy, Rebecca J. ;
Lanman, Richard B. ;
Knoerzer, Deborah ;
Welsch, Dean J. ;
Yurgelun, Matthew B. ;
Fuchs, Charles S. ;
Garraway, Levi A. ;
Getz, Gad ;
Hornick, Jason L. ;
Johnson, Bruce E. .
CANCER DISCOVERY, 2018, 8 (09) :1096-1111
[2]  
[Anonymous], CCN Clinical Practice Guidelines in Oncology (NCCN Guidelines<(R)>) genetic/ familial high-risk assessment: Breast, ovarian, and pancreatic. Version 1.2021
[3]   Testing participation in BRCA1/2-positive families:: Initiator role of index cases [J].
Blandy, C ;
Chabal, F ;
Stoppa-Lyonnet, D ;
Julian-Reynier, C .
GENETIC TESTING, 2003, 7 (03) :225-233
[4]   Prospective Study of Germline Genetic Testing in Incident Cases of Pancreatic Adenocarcinoma [J].
Brand, Randall ;
Borazanci, Erkut ;
Speare, Virginia ;
Dudley, Beth ;
Karloski, Eve ;
Peters, Mary Linton B. ;
Stobie, Lindsey ;
Bahary, Nathan ;
Zeh, Herbert ;
Zureikat, Amer ;
Hogg, Melissa ;
Lee, Kenneth ;
Tsung, Allan ;
Rhee, John ;
Ohr, James ;
Sun, Weijing ;
Lee, James ;
Moser, A. James ;
DeLeonardis, Kim ;
Krejdovsky, Jill ;
Dalton, Emily ;
LaDuca, Holly ;
Dolinsky, Jill ;
Colvin, Arlene ;
Lim, Cynthia ;
Black, Mary Helen ;
Tung, Nadine .
CANCER, 2018, 124 (17) :3520-3527
[5]   Phase I, Dose-Escalation, Two-Part Trial of the PARP Inhibitor Talazoparib in Patients with Advanced Germline BRCA1/2 Mutations and Selected Sporadic Cancers [J].
de Bono, Johann ;
Ramanathan, Ramesh K. ;
Mina, Lida ;
Chugh, Rashmi ;
Glaspy, John ;
Rafii, Saeed ;
Kaye, Stan ;
Sachdev, Jasgit ;
Heymach, John ;
Smith, David C. ;
Henshaw, Joshua W. ;
Herriott, Ashleigh ;
Patterson, Miranda ;
Curtin, Nicola J. ;
Byers, Lauren Averett ;
Wainberg, Zev A. .
CANCER DISCOVERY, 2017, 7 (06) :620-629
[6]   A Cost-Effectiveness Evaluation of Germline BRCA1 and BRCA2 Testing in UK Women with Ovarian Cancer [J].
Eccleston, Anthony ;
Bentley, Anthony ;
Dyer, Matthew ;
Strydom, Ann ;
Vereecken, Wim ;
George, Angela ;
Rahman, Nazneen .
VALUE IN HEALTH, 2017, 20 (04) :567-576
[7]   Family Communication of BRCA1/2 Results and Family Uptake of BRCA1/2 Testing in a Diverse Population of BRCA1/2 Carriers [J].
Fehniger, Julia ;
Lin, Feng ;
Beattie, Mary S. ;
Joseph, Galen ;
Kaplan, Celia .
JOURNAL OF GENETIC COUNSELING, 2013, 22 (05) :603-612
[8]   Prospective Feasibility Trial of a Novel Strategy of Facilitated Cascade Genetic Testing Using Telephone Counseling [J].
Frey, Melissa K. ;
Kahn, Ryan M. ;
Chapman-Davis, Eloise ;
Tubito, Francesca ;
Pires, Maira ;
Christos, Paul ;
Anderson, Samantha ;
Mukherjee, Semanti ;
Jordan, Bailey ;
Blank, Stephanie V. ;
Caputo, Thomas A. ;
Sharaf, Ravi N. ;
Offit, Kenneth ;
Holcomb, Kevin ;
Lipkin, Steven .
JOURNAL OF CLINICAL ONCOLOGY, 2020, 38 (13) :1389-+
[9]   Maintenance Olaparib for Germline BRCA-Mutated Metastatic Pancreatic Cancer [J].
Golan, Talia ;
Hammel, Pascal ;
Reni, Michele ;
Van Cutsem, Eric ;
Macarulla, Teresa ;
Hall, Michael J. ;
Park, Joon-Oh ;
Hochhauser, Daniel ;
Arnold, Dirk ;
Oh, Do-Youn ;
Reinacher-Schick, Anke ;
Tortora, Giampaolo ;
Alguel, Hana ;
O'Reilly, Eileen M. ;
McGuinness, David ;
Cui, Karen Y. ;
Schlienger, Katia ;
Locker, Gershon Y. ;
Kindler, Hedy L. .
NEW ENGLAND JOURNAL OF MEDICINE, 2019, 381 (04) :317-327
[10]   Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients With Pancreatic Cancer [J].
Grant, Robert C. ;
Selander, Iris ;
Connor, Ashton A. ;
Selvarajah, Shamini ;
Borgida, Ayelet ;
Briollais, Laurent ;
Petersen, Gloria M. ;
Lerner-Ellis, Jordan ;
Holter, Spring ;
Gallinger, Steven .
GASTROENTEROLOGY, 2015, 148 (03) :556-564