Dana-Farber Cancer Institute, Boston, MA
Matthew B. Yurgelun , Chinedu I. Ukaegbu , C. Sloane Furniss , Barbara Kenner , Alison Klein , Andrew M. Lowy , Florencia McAllister , Maureen E Mork , Scott H. Nelson , Alison Robertson , Jill E. Stopfer , Meghan Underhill , Allyson J. Ocean , Lisa Madlensky , Gloria M. Petersen , Judy Ellen Garber , Scott Michael Lippman , Michael Goggins , Anirban Maitra , Sapna Syngal
Background: 4-10% of PDAC patients harbor pathogenic germline variants in cancer susceptibility genes, including APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, and TP53. For families with such pathogenic variants, the greatest potential impact of germline testing is to identify relatives with the same variant (cascade testing), thereby providing the opportunity for early detection and interception of PDAC and other associated cancers. Numerous factors limit cascade testing in real-world practice, including family dynamics, widespread geographic distribution of relatives, access to genetic services, and misconceptions about the importance of germline testing, such that the preventive benefits of cascade testing are often not fully realized. The primary aim of this study is to analyze two alternative strategies for cascade testing in families with inherited PDAC risk. Methods: 1000 individuals with a confirmed pathogenic germline variant in any of the above genes in a 1st/2nd degree relative and a 1st/2nd degree relative with PDAC will be remotely enrolled through the study website (www.GENERATEstudy.org) and randomized between two methods of cascade testing (individuals with prior genetic testing will be ineligible): Arm 1 will undergo pre-test genetic education with a pre-recorded video and live interactive session with a genetic counselor via a web-based telemedicine platform (Doxy.me), followed by germline testing through Color Genomics; Arm 2 will undergo germline testing through Color Genomics without dedicated pre-test genetic education. Color Genomics will disclose results to study personnel and directly to participants in both arms. All participants will have the option of pursuing additional telephone-based genetic counseling through Color Genomics. The primary outcome will be uptake of cascade testing. Secondary outcomes will include self-reported genetic knowledge, cancer worry, distress, decisional preparedness, familial communication, and screening uptake, which will be measured via longitudinal surveys. Enrollment is underway nationwide as of May, 2019. Clinical trial information: NCT03762590
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Abstract Disclosures
2019 ASCO Annual Meeting
First Author: Matthew B. Yurgelun
2023 ASCO Annual Meeting
First Author: Vanessa Rosas Camargo
2022 ASCO Annual Meeting
First Author: Mary Linton Bounetheau Peters
2023 ASCO Gastrointestinal Cancers Symposium
First Author: Kelsey Klute