Expanding access to genetic testing for pancreatic cancer

Siegel RL, Miller KD, Wagle NS, Jemal A, Cancer statistics (2023) CA Cancer J Clin. Jan 2023;73(1):17–48. https://doi.org/10.3322/caac.21763

American Cancer Society. Cancer Facts & Fig. (2024) Atlanta: American Cancer Society; 2024

Hu C, Hart SN, Polley EC et al (2018) Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. JAMA. 06 19. ;319(23):2401–2409. https://doi.org/10.1001/jama.2018.6228

Shindo K, Yu J, Suenaga M et al (2017) Deleterious germline mutations in patients with apparently sporadic pancreatic adenocarcinoma. J Clin Oncol Oct 20(30):3382–3390. https://doi.org/10.1200/JCO.2017.72.3502

Article  Google Scholar 

Brand R, Borazanci E, Speare V et al (2018) Prospective study of germline genetic testing in incident cases of pancreatic adenocarcinoma. Cancer Sep 01(17):3520–3527. https://doi.org/10.1002/cncr.31628

Article  CAS  Google Scholar 

Grant RC, Selander I, Connor AA et al (2015) Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer. Gastroenterol Mar 148(3):556–564. https://doi.org/10.1053/j.gastro.2014.11.042

Article  CAS  Google Scholar 

Yurgelun MB, Chittenden AB, Morales-Oyarvide V et al (2019) Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer. Genet Med 01(1):213–223. https://doi.org/10.1038/s41436-018-0009-5

Article  CAS  Google Scholar 

Golan T, Casolino R, Biankin AV et al (2023) Germline BRCA testing in pancreatic cancer: improving awareness, timing, turnaround, and uptake. Ther Adv Med Oncol 15:17588359231189127. https://doi.org/10.1177/17588359231189127

Article  CAS  PubMed  PubMed Central  Google Scholar 

National Comprehensive Cancer Network (NCCN) (2023) Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 3.2023

Walker EJ, Carnevale J, Pedley C et al (2019) Referral frequency, attrition rate, and outcomes of germline testing in patients with pancreatic adenocarcinoma. Fam Cancer 04(2):241–251. https://doi.org/10.1007/s10689-018-0106-2

Article  Google Scholar 

Chittenden A, Haraldsdottir S, Ukaegbu C et al (2021) Implementing systematic genetic counseling and Multigene Germline Testing for individuals with pancreatic Cancer. JCO Oncol Pract 17(2):e236–e247. https://doi.org/10.1200/OP.20.00678

Article  PubMed  PubMed Central  Google Scholar 

Kurian AW, Abrahamse P, Furgal A et al (2023) Germline genetic testing after Cancer diagnosis. JAMA Jul 03(1):43–51. https://doi.org/10.1001/jama.2023.9526

Article  CAS  Google Scholar 

Stoffel EM, Carethers JM (2020) Current approaches to germline cancer genetic testing. Annu Rev Med 71:85–102. https://doi.org/10.1146/annurev-med-052318-101009

Article  CAS  PubMed  Google Scholar 

Dbouk M, Katona BW, Brand RE et al (2022) The Multicenter Cancer of pancreas Screening Study: Impact on Stage and Survival. J Clin Oncol Jun 15:JCO2200298. https://doi.org/10.1200/JCO.22.00298

Article  CAS  Google Scholar 

Klatte DCF, Boekestijn B, Wasser MNJM et al (2022) Pancreatic Cancer surveillance in carriers of a germline. J Clin Oncol Oct 01(28):3267–3277. https://doi.org/10.1200/JCO.22.00194

Walker EJ, Goldberg D, Gordon KM et al (2021) Implementation of an embedded In-Clinic Genetic Testing Station to optimize germline testing for patients with pancreatic adenocarcinoma. Oncologist Sep 10. https://doi.org/10.1002/onco.13968

Drogan CM, Kindler HL, Gao G, Kupfer SS (2023) Outcomes of Universal Point-of-care genetic testing in diverse patients with pancreatic ductal adenocarcinoma. JCO Precis Oncol Jan 7:e2200196. https://doi.org/10.1200/PO.22.00196

Article  Google Scholar 

Rodriguez NJ, Ricker C, Stoffel EM, Syngal S (2023) Barriers and facilitators to Genetic Education, Risk Assessment, and testing: considerations on advancing Equitable Genetics Care. Gastroenterol Jan 164(1):5–8. https://doi.org/10.1053/j.gastro.2022.11.021

Article  Google Scholar 

Rana HQ, Cochrane SR, Hiller E et al (2018) A comparison of cancer risk assessment and testing outcomes in patients from underserved vs. tertiary care settings. J Community Genet Jul 9(3):233–241. https://doi.org/10.1007/s12687-017-0347-z

Article  Google Scholar 

Chou AF, Duncan AR, Hallford G, Kelley DM, Dean LW (2021) Barriers and strategies to integrate medical genetics and primary care in underserved populations: a scoping review. J Community Genet Jul 12(3):291–309. https://doi.org/10.1007/s12687-021-00508-5

Article  Google Scholar 

Srinivasan S, Won NY, Dotson WD, Wright ST, Roberts MC (2020) Barriers and facilitators for cascade testing in genetic conditions: a systematic review. Eur J Hum Genet 12(12):1631–1644. https://doi.org/10.1038/s41431-020-00725-5

Article  Google Scholar 

Rodriguez NJ, Coffin TB, Ward AJ et al (2023) The Racial/ethnic equity in GENetic Education, Risk Assessment, and TEsting (REGENERATE) among black and Latino/a/x communities At-risk for pancreatic Cancer - Preliminary findings from Online Focus Groups. Gastroenterol - DDW 2023 Abstracts 164(6):S–733. https://doi.org/10.1016/S0016-5085(23)02702-6

Article  Google Scholar 

Canedo JR, Wilkins CH, Senft N, Romero A, Bonnet K, Schlundt D (2020) Barriers and facilitators to dissemination and adoption of precision medicine among Hispanics/Latinos. BMC Public Health May 20(1):603. https://doi.org/10.1186/s12889-020-08718-1

Article  Google Scholar 

Hann KEJ, Freeman M, Fraser L et al (2017) Awareness, knowledge, perceptions, and attitudes towards genetic testing for cancer risk among ethnic minority groups: a systematic review. BMC Public Health 05(1):503. https://doi.org/10.1186/s12889-017-4375-8

Article  Google Scholar 

Rosas LG, Nasrallah C, Park VT et al (2020) Perspectives on Precision Health among Racial/Ethnic Minority Communities and the Physicians that serve them. Ethn Dis 30(Suppl 1):137–148. https://doi.org/10.18865/ed.30.S1.137

Article  PubMed  PubMed Central  Google Scholar 

Dharwadkar P, Greenan G, Stoffel EM et al (2022) Racial and ethnic disparities in Germline genetic testing of patients with Young-Onset Colorectal Cancer. Clin Gastroenterol Hepatol 02(2):353–361e3. https://doi.org/10.1016/j.cgh.2020.12.025

Article  CAS  Google Scholar 

Jagsi R, Griffith KA, Kurian AW et al (2015) Concerns about cancer risk and experiences with genetic testing in a diverse population of patients with breast cancer. J Clin Oncol May 10(14):1584–1591. https://doi.org/10.1200/JCO.2014.58.5885

Article  Google Scholar 

Halder R, Veeravelli S, Cheng C, Estrada-Mendizabal RJ, Recio-Boiles A (2023) Health disparities in Presentation, Treatment, genomic testing, and outcomes of pancreatic Cancer in hispanic and non-hispanic patients. J Racial Ethn Health Disparities Apr 18. https://doi.org/10.1007/s40615-022-01486-1

Triebold M, Skov K, Erickson L et al (2021) Geographical analysis of the distribution of certified genetic counselors in the United States. J Genet Couns 04(2):448–456. https://doi.org/10.1002/jgc4.1331

Article  Google Scholar 

Ayala-Lopez N, Nichols JH (2020) Benefits and risks of direct-to-consumer testing. Arch Pathol Lab Med 10(10):1193–1198. https://doi.org/10.5858/arpa.2020-0078-RA

Article  Google Scholar 

Riley BD, Culver JO, Skrzynia C et al (2012) Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns Apr 21(2):151–161. https://doi.org/10.1007/s10897-011-9462-x

Article  Google Scholar 

Gorrie A, Gold J, Cameron C, Krause M, Kincaid H (2021) Benefits and limitations of telegenetics: a literature review. J Genet Couns Aug 30(4):924–937. https://doi.org/10.1002/jgc4.1418

Article  Google Scholar 

Rodriguez NJ, Furniss CS, Yurgelun MB et al (2024) A Randomized Trial of two Remote Healthcare Delivery models on the uptake of genetic testing and impact on patient-reported psychological outcomes in families with pancreatic Cancer: the Genetic Education, Risk Assessment, and testing (GENERATE) study. Gastroenterol Feb 04. https://doi.org/10.1053/j.gastro.2024.01.042

Trottier M, Lunn J, Butler R et al (2015) Strategies for recruitment of relatives of BRCA mutation carriers to a genetic testing program in the Bahamas. Clin Genet 88(2):182–186. https://doi.org/10.1111/cge.12468

Article  CAS  PubMed  Google Scholar 

Beard VK, Bedard AC, Nuk J et al (2020) Genetic testing in families with hereditary colorectal cancer in British Columbia and Yukon: a retrospective cross-sectional analysis. CMAJ Open 8(4):E637–E642. https://doi.org/10.9778/cmajo.20190167

Article  PubMed  PubMed Central  Google Scholar 

Ponz de Leon M, Benatti P, Di Gregorio C et al (2004) Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer. Br J Cancer 90(4):882–887. https://doi.org/10.1038/sj.bjc.6601529

Article  CAS  PubMed  PubMed Central  Google Scholar 

Blandy C, Chabal F, Stoppa-Lyonnet D, Julian-Reynier C (2003) Testing participation in BRCA1/2-positive families: initiator role of index cases. Genet Test 7(3):225–233. https://doi.org/10.1089/109065703322537241

Article  PubMed  Google Scholar 

Bednar EM, Sun CC, McCurdy S, Vernon SW (2020) Assessing relatives’ readiness for hereditary cancer cascade genetic testing. Genet Med 22(4):719–726. https://doi.org/10.1038/s41436-019-0735-3

Article  PubMed  Google Scholar 

Ponz de Leon M, Benatti P, Di Gregorio C et al (2004) Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer. Br J Cancer Feb 23(4):882–887. https://doi.org/10.1038/sj.bjc.6601529

Article  CAS  Google Scholar 

Ramsey ML, Tomlinson J, Pearlman R et al (2023) Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake. Fam Cancer Jan 22(1):91–97. https://doi.org/10.1007/s10689-022-00300-5

Article  CAS  Google Scholar 

Cacioppo CN, Egleston BL, Fetzer D et al (2021) Randomized study of remote telehealth genetic services versus usual care in oncology practices without genetic counselors. Cancer Med 07(13):4532–4541. https://doi.org/10.1002/cam4.3968

Article  Google Scholar 

Shannon KM, Emmet MM, Rodgers LH, Wooters M, Seidel ML (2021) Transition to telephone genetic counseling services during the COVID-19 pandemic. J Genet Couns 30(4):984–988. https://doi.org/10.1002/jgc4.1365

Article  PubMed  Google Scholar 

Bradbury A, Patrick-Miller L, Harris D et al (2016) Utilizing Remote Real-Time videoconferencing to Expand Access to Cancer Genetic Services in Community practices: a Multicenter Feasibility Study. J Med Internet Res 18(2):e23. https://doi.org/10.2196/jmir.4564

Article  PubMed  PubMed Central  Google Scholar 

Kinney AY, Steffen LE, Brumbach BH et al (2016) Randomized Noninferiority Trial of Telephone Delivery of BRCA1/2 genetic counseling compared with In-Person counseling: 1-Year Follow-Up. J Clin Oncol 34(24):2914–2924. https://doi.org/10.1200/JCO.2015.65.9557

Article  PubMed  PubMed Central 

Comments (0)

No login
gif