TY - JOUR
T1 - Novel models of genetic education and testing for pancreatic cancer interception
T2 - Preliminary results from the GENERATE study
AU - Furniss, C. Sloane
AU - Yurgelun, Matthew B.
AU - Ukaegbu, Chinedu
AU - Constantinou, Pamela E.
AU - Lafferty, Catherine C.
AU - Talcove-Berko, Eliana R.
AU - Schwartz, Alison N.
AU - Stopfer, Jill E.
AU - Underhill-Blazey, Meghan
AU - Kenner, Barbara
AU - Nelson, Scott H.
AU - Okumura, Sydney
AU - Law, Sherman
AU - Zhou, Alicia Y.
AU - Coffin, Tara B.
AU - Rodriguez, Nicolette J.
AU - Uno, Hajime
AU - Ocean, Allyson J.
AU - McAllister, Florencia
AU - Lowy, Andrew M.
AU - Lippman, Scott M.
AU - Klein, Alison P.
AU - Madlensky, Lisa
AU - Petersen, Gloria M.
AU - Garber, Judy E.
AU - Goggins, Michael G.
AU - Maitra, Anirban
AU - Syngal, Sapna
N1 - Publisher Copyright:
© 2021 American Association for Cancer Research.
PY - 2021/11
Y1 - 2021/11
N2 - Up to 10% of patients with pancreatic ductal adenocarcinoma (PDAC) carry underlying germline pathogenic variants in cancer susceptibility genes. The GENetic Education Risk Assessment and TEsting (GENERATE) study aimed to evaluate novel methods of genetic education and testing in relatives of patients with PDAC. Eligible individuals had a family history of PDAC and a relative with a germline pathogenic variant in APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, or TP53 genes. Participants were recruited at six academic cancer centers and through social media campaigns and patient advocacy efforts. Enrollment occurred via the study website (https://GENERATEstudy.org) and all participation, including collecting a saliva sample for genetic testing, could be done from home. Participants were randomized to one of two remote methods that delivered genetic education about the risks of inherited PDAC and strategies for surveillance. The primary outcome of the study was uptake of genetic testing. From 5/8/2019 to 5/6/2020, 49 participants were randomized to each of the intervention arms. Overall, 90 of 98 (92%) of randomized participants completed genetic testing. The most frequently detected pathogenic variants included those in BRCA2 (N = 15, 17%), ATM (N = 11, 12%), and CDKN2A (N = 4, 4%). Participation in the study remained steady throughout the onset of the Coronavirus disease (COVID-19) pandemic. Preliminary data from the GENERATE study indicate success of remote alternatives to traditional cascade testing, with genetic testing rates over 90% and a high rate of identification of germline pathogenic variant carriers who would be ideal candidates for PDAC interception approaches.
AB - Up to 10% of patients with pancreatic ductal adenocarcinoma (PDAC) carry underlying germline pathogenic variants in cancer susceptibility genes. The GENetic Education Risk Assessment and TEsting (GENERATE) study aimed to evaluate novel methods of genetic education and testing in relatives of patients with PDAC. Eligible individuals had a family history of PDAC and a relative with a germline pathogenic variant in APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, or TP53 genes. Participants were recruited at six academic cancer centers and through social media campaigns and patient advocacy efforts. Enrollment occurred via the study website (https://GENERATEstudy.org) and all participation, including collecting a saliva sample for genetic testing, could be done from home. Participants were randomized to one of two remote methods that delivered genetic education about the risks of inherited PDAC and strategies for surveillance. The primary outcome of the study was uptake of genetic testing. From 5/8/2019 to 5/6/2020, 49 participants were randomized to each of the intervention arms. Overall, 90 of 98 (92%) of randomized participants completed genetic testing. The most frequently detected pathogenic variants included those in BRCA2 (N = 15, 17%), ATM (N = 11, 12%), and CDKN2A (N = 4, 4%). Participation in the study remained steady throughout the onset of the Coronavirus disease (COVID-19) pandemic. Preliminary data from the GENERATE study indicate success of remote alternatives to traditional cascade testing, with genetic testing rates over 90% and a high rate of identification of germline pathogenic variant carriers who would be ideal candidates for PDAC interception approaches.
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U2 - 10.1158/1940-6207.CAPR-20-0642
DO - 10.1158/1940-6207.CAPR-20-0642
M3 - Article
C2 - 34625409
AN - SCOPUS:85119914696
SN - 1940-6207
VL - 14
SP - 1021
EP - 1032
JO - Cancer Prevention Research
JF - Cancer Prevention Research
IS - 11
ER -