Hereditary Diffuse Gastric Cancer: The Decision-Making Process for Individuals
Hereditary diffuse gastric cancer (HDGC) is caused by mutations in the CDH1 gene. Individuals who carry mutations in the CDH1 gene have as high as an 80% lifetime risk for gastric cancer. To reduce the high lifetime risk of gastric cancer, CDH1 mutation carriers are recommended to undergo a prophylactic total gastrectomy (TG). Individuals within this at-risk population face a difficult task of deciding whether to have genetic testing for the CDH1 mutation and to have a prophylactic TG. Currently, there is little research that examines the factors influencing decision-making for this population and their specific informational and support needs. We conducted semi-structured telephone interviews on 26 individuals at different points of this decision-making process. Participants were recruited from the No Stomach for Cancer online support group and other social media websites. To be included in the study, the participants had to be 18 years or older, have a family history of hereditary diffuse gastric cancer, and have not had clinical symptoms of HDGC. A family history of HDGC was defined as having one or more first or second degree relatives who 1) had diffuse gastric cancer and/or 2) tested positive for a CDH1 mutation. Eleven participants had already undergone a TG, nine were identified as CDH1 mutation carriers but were currently evaluating their prophylactic options, and six had a family history of CDH1 but had not yet pursued genetic testing. The interviews were analysed using grounded theory to determine themes. These interviews illuminated that the four main factors influencing decision-making were the avoidance of cancer, family, the inadequacies of endoscopic surveillance, and viewing a post-TG family member’s experience. Additionally, many participants were frustrated with the lack of awareness for the condition and were concerned they had to become their own advocate for their healthcare. The results of this study can provide insight to genetic counselors and other medical professionals of how to help facilitate this decision-making process and how to provide appropriate psychosocial support for this population.
Cassini, C., Thauvin-Robinet, C., Vinault, S., Binquet, C., Coron, F., Masurel-Paulet, A., … Faivre, L. (2011). Written information to patients in clinical genetics: What’s the impact? European Journal of Medical Genetics, 54(3), 277–280. https://doi.org/10.1016/j.ejmg.2011.03.006
Chen, Y., Kingham, K., Ford, J. M., Rosing, J., Van Dam, J., Jeffrey, R. B., … Norton, J. A. (2011). A prospective study of total gastrectomy for CDH1-positive hereditary diffuse gastric cancer. Annals of Surgical Oncology, 18(9), 2594–8. https://doi.org/10.1245/s10434-011-1648-9
Fitzgerald, R. C., Hardwick, R., Huntsman, D., Carneiro, F., Guilford, P., Blair, V., … Caldas, C. (2010). Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. Journal of Medical Genetics, 47(7), 436–44. https://doi.org/10.1136/jmg.2009.074237
Hallowell, N., & Murton, F. (1998). The value of written summaries of genetic consultations. Patient Education and Counseling, 35(1), 27–34. https://doi.org/10.1016/S0738-3991(98)00080-9
Hallowell, N., Badger, S., Richardson, S., Caldas, C., Hardwick, R. H., Fitzgerald, R. C., & Lawton, J. (2016). An investigation of the factors effecting high-risk individuals’ decision-making about prophylactic total gastrectomy and surveillance for hereditary diffuse gastric cancer (HDGC). Familial Cancer, 15(4), 665–676. https://doi.org/10.1007/s10689-016-9910-8
Hallowell, N., Lawton, J., Badger, S., Richardson, S., Hardwick, R. H., Caldas, C., & Fitzgerald, R. C. (2016). The Psychosocial Impact of Undergoing Prophylactic Total Gastrectomy (PTG) to Manage the Risk of Hereditary Diffuse Gastric Cancer (HDGC). Journal of Genetic Counseling, 1–11. https://doi.org/10.1007/s10897-016-0045-8
Hansford, S., Kaurah, P., Li-Chang, H., Woo, M., Senz, J., Pinheiro, H., … Huntsman, D. G. (2015). Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. JAMA Oncology, 1(1), 23–32. https://doi.org/10.1001/jamaoncol.2014.168
Hebbard, P. C., Macmillan, A., Huntsman, D., Kaurah, P., Carneiro, F., Wen, X., … Wirtzfeld, D. A. (2009). Prophylactic total gastrectomy (PTG) for hereditary diffuse gastric cancer (HDGC): the Newfoundland experience with 23 patients. Annals of Surgical Oncology, 16(7), 1890–5. https://doi.org/10.1245/s10434-009-0471-z
Liedman, B. (1999). Symptoms after total gastrectomy on food intake, body composition, bone metabolism, and quality of life in gastric cancer patients—is reconstruction with a reservoir worthwhile? Nutrition, 15(9), 677–682. https://doi.org/10.1016/S0899-9007(99)00123-9
Lim, Y. C., di Pietro, M., O’Donovan, M., Richardson, S., Debiram, I., Dwerryhouse, S., … Fitzgerald, R. C. (2014). Prospective cohort study assessing outcomes of patients from families fulfilling criteria for hereditary diffuse gastric cancer undergoing endoscopic surveillance. Gastrointestinal Endoscopy, 80(1), 78–87. https://doi.org/10.1016/j.gie.2013.11.040
Lynch, H. T., Kaurah, P., Wirtzfeld, D., Rubinstein, W. S., Weissman, S., Lynch, J. F., … Huntsman, D. G. (2008). Hereditary diffuse gastric cancer: diagnosis, genetic counseling, and prophylactic total gastrectomy. Cancer, 112(12), 2655–63. https://doi.org/10.1002/cncr.23501
Mine, S., Sano, T., Tsutsumi, K., Murakami, Y., Ehara, K., Saka, M., … Katai, H. (2010). Large-scale investigation into dumping syndrome after gastrectomy for gastric cancer. Journal of the American College of Surgeons, 211(5), 628–36. https://doi.org/10.1016/j.jamcollsurg.2010.07.003
Muir, J., Aronson, M., Esplen, M.-J., Pollett, A., & Swallow, C. J. (2016). Prophylactic Total Gastrectomy: a Prospective Cohort Study of Long-Term Impact on Quality of Life. Journal of Gastrointestinal Surgery, 20(12), 1950–1958. https://doi.org/10.1007/s11605-016-3287-8
NCCN. (2016). National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines). Gastric Cancer. Version 1.2016. Available at: https://www.nccn.org/professionals/physician_gls/pdf/gastric.pdf. Accessed May 12, 2065.
Onitilo, A. A., Aryal, G., & Engel, J. M. (2013). Hereditary diffuse gastric cancer: a family diagnosis and treatment. Clinical Medicine & Research, 11(1), 36–41. https://doi.org/10.3121/cmr.2012.1071
Pandalai, P. K., Lauwers, G. Y., Chung, D. C., Patel, D., & Yoon, S. S. (2011). Prophylactic total gastrectomy for individuals with germline CDH1 mutation. Surgery, 149(3), 347–55. https://doi.org/10.1016/j.surg.2010.07.005
Peters, S. A., Laham, S. M., Pachter, N., & Winship, I. M. (2014). The future in clinical genetics: affective forecasting biases in patient and clinician decision making.
Clinical Genetics, 85(4), 312–7. https://doi.org/10.1111/cge.12255
Pharoah, P. D., Guilford, P., & Caldas, C. (2001). Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology, 121(6), 1348–53. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11729114
Seevaratnam, R., Coburn, N., Cardoso, R., Dixon, M., Bocicariu, A., & Helyer, L. (2012). A systematic review of the indications for genetic testing and prophylactic gastrectomy among patients with hereditary diffuse gastric cancer. Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 15 Suppl 1, S153-63. https://doi.org/10.1007/s10120-011-0116-3
Syngal, S., Brand, R. E., Church, J. M., Giardiello, F. M., Hampel, H. L., & Burt, R. W. (2015). ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. The American Journal of Gastroenterology, 110(2), 223–62; quiz 263. https://doi.org/10.1038/ajg.2014.435
Underhill, M. L., & Crotser, C. B. (2013). Seeking Balance: Decision Support Needs of Women Without Cancer and a Deleterious BRCA1 or BRCA2 Mutation. Journal of Genetic Counseling, 23(3), 350–362. https://doi.org/10.1007/s10897-013-9667-2
van der Post, R. S., Vogelaar, I. P., Carneiro, F., Guilford, P., Huntsman, D., Hoogerbrugge, N., … Fitzgerald, R. C. (2015). Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. Journal of Medical Genetics, 52(6), 361–74. https://doi.org/10.1136/jmedgenet-2015-103094
Worster, E., Liu, X., Richardson, S., Hardwick, R. H., Dwerryhouse, S., Caldas, C., & Fitzgerald, R. C. (2014). The impact of prophylactic total gastrectomy on health-related quality of life: a prospective cohort study. Annals of Surgery, 260(1), 87–93. https://doi.org/10.1097/SLA.0000000000000446
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