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29.03.2017 | Original Research

Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients

verfasst von: Heidi S. Lumish, Hallie Steinfeld, Carrie Koval, Donna Russo, Elana Levinson, Julia Wynn, James Duong, Wendy K. Chung

Erschienen in: Journal of Genetic Counseling | Ausgabe 5/2017

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Abstract

Recent advances in next generation sequencing have enabled panel gene testing, or simultaneous testing for mutations in multiple genes for a clinical condition. With more extensive and widespread genetic testing, there will be increased detection of genes with moderate penetrance without established clinical guidelines and of variants of uncertain significance (VUS), or genetic variants unknown to either be disease-causing or benign. This study surveyed 232 patients who underwent genetic counseling for hereditary breast and ovarian cancer to examine the impact of panel gene testing on psychological outcomes, patient understanding, and utilization of genetic information. The survey used standardized instruments including the Impact of Event Scale (IES), Multidimensional Impact of Cancer Risk Assessment (MICRA), Satisfaction with Decision Instrument (SWD), Ambiguity Tolerance Scale (AT-20), genetics knowledge, and utilization of genetic test results. Study results suggested that unaffected individuals with a family history of breast or ovarian cancer who received positive results were most significantly impacted by intrusive thoughts, avoidance, and distress. However, scores were also modestly elevated among unaffected patients with a family history of breast and ovarian cancer who received VUS, highlighting the impact of ambiguous results that are frequent among patients undergoing genetic testing with large panels of genes. Potential risk factors for increased genetic testing-specific distress in this study included younger age, black or African American race, Hispanic origin, lower education level, and lower genetic knowledge and highlight the need for developing strategies to provide effective counseling and education to these communities, particularly when genetic testing utilizes gene panels that more commonly return VUS. More detailed pre-test education and counseling may help patients appreciate the probability of various types of test results and how results would be used clinically, and allow them to make more informed decisions about the type of genetic testing to select.

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Antoniou, A., Pharoah, P. D. P., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., et al. (2003). Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies. American Journal of Human Genetics, 72(5), 1117–1130. doi:10.1086/375033.CrossRefPubMedPubMedCentral

Bjornslett, M., Dahl, A. A., Sorebo, O., & Dorum, A. (2015). Psychological distress related to BRCA testing in ovarian cancer patients. Familial Cancer, 14(4), 495–504. doi:10.1007/s10689-015-9811-2.CrossRefPubMed

Bradbury, A. R., Patrick-Miller, L. J., Egleston, B. L., DiGiovanni, L., Brower, J., Harris, D., et al. (2016). Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing. Genetics in Medicine, 18(1), 25–33. doi:10.1038/gim.2015.19.CrossRefPubMed

Bubien, V., Bonnet, F., Brouste, V., Hoppe, S., Barouk-Simonet, E., David, A., et al. (2013). High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. Journal of Medical Genetics, 50(4), 255–263. doi:10.1136/jmedgenet-2012-101339.CrossRefPubMed

Cella, D., Hughes, C., Peterman, A., Chang, C. H., Peshkin, B. N., Schwartz, M. D., et al. (2002). A brief assessment of concerns associated with genetic testing for cancer: The multidimensional impact of cancer risk assessment (MICRA) questionnaire. Health Psychology, 21(6), 564–572. doi:10.1037//0278-6133.21.6.564.CrossRefPubMed

Chen, S., & Parmigiani, G. (2007). Meta-analysis of BRCA1 and BRCA2 penetrance. Journal of Clinical Oncology, 25(11), 1329–1333. doi:10.1200/JCO.2006.09.1066.CrossRefPubMedPubMedCentral

Crotser, C. B., & Boehmke, M. (2009). Survivorship considerations in adults with hereditary breast and ovarian cancer syndrome: State of the science. Journal of Cancer Survivorship, 3(1), 21–42. doi:10.1007/s11764-008-0077-7.CrossRefPubMed

Culver, J. O., Brinkerhoff, C. D., Clague, J., Yang, K., Singh, K. E., Sand, S. R., et al. (2013). Variants of uncertain significance in BRCA testing: Evaluation of surgical decisions, risk perception, and cancer distress. Clinical Genetics, 84(5), 464–472. doi:10.1111/cge.12097.CrossRefPubMedPubMedCentral

van Dijk, S., van Asperen, C. J., Jacobi, C. E., Vink, G. R., Tibben, A., Breuning, M. H., et al. (2004). Variants of uncertain clinical significance as a result of BRCA1/2 testing: Impact of an ambiguous breast cancer risk message. Genetic Testing, 8(3), 235–239. doi:10.1089/gte.2004.8.235.CrossRefPubMed

Douglas, H. A., Hamilton, R. J., & Grubs, R. E. (2009). The effect of BRCA gene testing on family relationships: A thematic analysis of qualitative interviews. Journal of Genetic Counseling, 18(5), 418–435. doi:10.1007/s10897-009-9232-1.CrossRefPubMed

Dunn, O. J. (1964). Multiple comparisons using rank sums. Technometrics, 6(3), 241. doi:10.2307/1266041.CrossRef

Easton, D. F., Pharoah, P. D. P., Antoniou, A. C., Tischkowitz, M., Tavtigian, S. V., Nathanson, K. L., et al. (2015). Gene-panel sequencing and the prediction of breast-cancer risk. New England Journal of Medicine, 372(23), 2243–2257. doi:10.1056/NEJMsr1501341.CrossRefPubMedPubMedCentral

Frey, M. K., Kim, S. H., Bassett, R. Y., Martineau, J., Dalton, E., Chern, J. Y., et al. (2015). Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening. Gynecologic Oncology, 139(2), 211–215. doi:10.1016/j.ygyno.2015.08.006.CrossRefPubMed

Graves, K. D., Vegella, P., Poggi, E. A., Peshkin, B. N., Tong, A., Isaacs, C., et al. (2012). Long-term psychosocial outcomes of BRCA1/BRCA2 testing: Differences across affected status and risk-reducing surgery choice. Cancer Epidemiology, Biomarkers & Prevention, 21(3), 445–455. doi:10.1158/1055-9965.EPI-11-0991.CrossRef

Halbert, C. H., Stopfer, J. E., McDonald, J., Weathers, B., Collier, A., Troxel, A. B., et al. (2011). Long-term reactions to genetic testing for BRCA1 and BRCA2 mutations: Does time heal women's concerns? Journal of Clinical Oncology, 29(32), 4302–4306. doi:10.1200/JCO.2010.33.1561.CrossRefPubMedPubMedCentral

Hamilton, J. G., Lobel, M., & Moyer, A. (2009). Emotional distress following genetic testing for hereditary breast and ovarian cancer: A meta-analytic review. Health Psychology, 28(4), 510–518. doi:10.1037/a0014778.CrossRefPubMedPubMedCentral

Hearle, N., Schumacher, V., Menko, F. H., Olschwang, S., Boardman, L. A., Gille, J. J. P., et al. (2006). Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clinical Cancer Research, 12(10), 3209–3215. doi:10.1158/1078-0432.CCR-06-0083.CrossRefPubMed

Heshka, J. T., Palleschi, C., Howley, H., Wilson, B., & Wells, P. S. (2008). A systematic review of perceived risks, psychological and behavioral impacts of genetic testing. Genetics in Medicine, 10(1), 19–32. doi:10.1097/GIM.0b013e31815f524f.CrossRefPubMed

Hirschberg, A. M., Chan-Smutko, G., & Pirl, W. F. (2015). Psychiatric implications of cancer genetic testing. Cancer, 121(3), 341–360. doi:10.1002/cncr.28879.CrossRefPubMed

Holmes-Rovner, M., Kroll, J., Schmitt, N., Rovner, D. R., Breer, M. L., Rothert, M. L., et al. (1996). Patient satisfaction with health care decisions: The satisfaction with decision scale. Medical Decision Making, 16(1), 58–64. doi:10.1177/0272989x9601600114.CrossRefPubMed

Hwang, S. J., Lozano, G., Amos, C. I., & Strong, L. C. (2003). Germline p53 mutations in a cohort with childhood sarcoma: Sex differences in cancer risk. American Journal of Human Genetics, 72(4), 975–983. doi:10.1086/374567.CrossRefPubMedPubMedCentral

Ku, C. S., Cooper, D. N., Iacopetta, B., & Roukos, D. H. (2013). Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition. Clinical Genetics, 83(1), 2–6. doi:10.1111/Cge.12028.CrossRefPubMed

Kurian, A. W., Hare, E. E., Mills, M. A., Kingham, K. E., McPherson, L., Whittemore, A. S., et al. (2014). Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. Journal of Clinical Oncology, 32(19), 2001–2009. doi:10.1200/JCO.2013.53.6607.CrossRefPubMedPubMedCentral

LaDuca, H., Stuenkel, A. J., Dolinsky, J. S., Keiles, S., Tandy, S., Pesaran, T., et al. (2014). Utilization of multigene panels in hereditary cancer predisposition testing: Analysis of more than 2,000 patients. Genetics in Medicine, 16(11), 830–837. doi:10.1038/gim.2014.40.CrossRefPubMedPubMedCentral

Liaw, D., Marsh, D. J., Li, J., Dahia, P. L., Wang, S. I., Zheng, Z., et al. (1997). Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nature Genetics, 16(1), 64–67. doi:10.1038/ng0597-64.CrossRefPubMed

Lincoln, S. E., Kobayashi, Y., Anderson, M. J., Yang, S., Desmond, A. J., Mills, M. A., et al. (2015). A systematic comparison of traditional and multigene panel testing for hereditary breast and ovarian cancer genes in more than 1000 patients. The Journal of Molecular Diagnostics, 17(5), 533–544. doi:10.1016/j.jmoldx.2015.04.009.CrossRefPubMed

Low, C. A., Bower, J. E., Kwan, L., & Seldon, J. (2008). Benefit finding in response to BRCA1/2 testing. Annals of Behavioral Medicine, 35(1), 61–69. doi:10.1007/s12160-007-9004-9.CrossRefPubMed

Lynch, H. T., Silva, E., Snyder, C., & Lynch, J. F. (2008). Hereditary breast cancer: Part I. Diagnosing hereditary breast cancer syndromes. The Breast Journal, 14(1), 3–13. doi:10.1111/j.1524-4741.2007.00515.x.CrossRefPubMed

MacDonald, A. P. (1970). Revised scale for ambiguity tolerance: Reliability and validity. Psychological Reports, 26(3), 791–798.CrossRef

MacDonald, D. J., Sarna, L., Weitzel, J. N., & Ferrell, B. (2010). Women's perceptions of the personal and family impact of genetic cancer risk assessment: Focus group findings. Journal of Genetic Counseling, 19(2), 148–160. doi:10.1007/s10897-009-9267-3.CrossRefPubMed

Madanikia, S. A., Bergner, A., Ye, X., & Blakeley, J. O. (2012). Increased risk of breast cancer in women with NF1. American Journal of Medical Genetics. Part A, 158A(12), 3056–3060. doi:10.1002/ajmg.a.35550.CrossRefPubMedPubMedCentral

Mavaddat, N., Peock, S., Frost, D., Ellis, S., Platte, R., Fineberg, E., et al. (2013). Cancer risks for BRCA1 and BRCA2 mutation carriers: Results from prospective analysis of EMBRACE. Journal of the National Cancer Institute, 105(11), 812–822. doi:10.1093/jnci/djt095.CrossRefPubMed

McCarthy, J. J., McLeod, H. L., & Ginsburg, G. S. (2013). Genomic medicine: A decade of successes, challenges, and opportunities. Science Translational Medicine, 5(189). doi:10.1126/scitranslmed.3005785.

Oberguggenberger, A., Sztankay, M., Morscher, R. J., Sperner-Unterweger, B., Weber, I., Hubalek, M., et al. (2016). Psychosocial outcomes and counselee satisfaction following genetic counseling for hereditary breast and ovarian cancer: A patient-reported outcome study. Journal of Psychosomatic Research, 89, 39–45. doi:10.1016/j.jpsychores.2016.08.005.CrossRefPubMed

Olivier, M., Goldgar, D. E., Sodha, N., Ohgaki, H., Kleihues, P., Hainaut, P., et al. (2003). Li-Fraumeni and related syndromes: Correlation between tumor type, family structure, and TP53 genotype. Cancer Research, 63(20), 6643–6650.PubMed

O'Neill, S. C., Demarco, T., Peshkin, B. N., Rogers, S., Rispoli, J., Brown, K., et al. (2006). Tolerance for uncertainty and perceived risk among women receiving uninformative BRCA1/2 test results. American Journal of Medical Genetics Part C-Seminars in Medical Genetics, 142C(4), 251–259. doi:10.1002/ajmg.c.30104.CrossRef

O'Neill, S. C., Rini, C., Goldsmith, R. E., Valdimarsdottir, H., Cohen, L. H., & Schwartz, M. D. (2009). Distress among women receiving uninformative BRCA1/2 results: 12-month outcomes. Psycho-Oncology, 18(10), 1088–1096. doi:10.1002/pon.1467.CrossRefPubMedPubMedCentral

Pharoah, P. D. P., Guilford, P., Caldas, C., & Consortiu, I. G. C. L. (2001). Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology, 121(6), 1348–1353. doi:10.1053/gast.2001.29611.CrossRefPubMed

Rainville, I. R., & Rana, H. Q. (2014). Next-generation sequencing for inherited breast cancer risk: Counseling through the complexity. Current Oncology Reports, 16: 371. doi:10.1007/S11912-013-0371-Z.

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., et al. (2015). Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17(5), 405–424. doi:10.1038/gim.2015.30.CrossRefPubMedPubMedCentral

Richter, S., Haroun, I., Graham, T. C., Eisen, A., Kiss, A., & Warner, E. (2013). Variants of unknown significance in BRCA testing: Impact on risk perception, worry, prevention and counseling. Annals of Oncology, 24, 69–74. doi:10.1093/annonc/mdt312.CrossRef

Ringwald, J., Wochnowski, C., Bosse, K., Giel, K. E., Schaffeler, N., Zipfel, S., et al. (2016). Psychological distress, anxiety, and depression of cancer-affected BRCA1/2 mutation carriers: A systematic review. Journal of Genetic Counseling, 25(5), 880–891. doi:10.1007/s10897-016-9949-6.CrossRefPubMed

Robson, M., & Offit, K. (2007). Clinical practice. Management of an inherited predisposition to breast cancer. The New England Journal of Medicine, 357(2), 154–162. doi:10.1056/NEJMcp071286.CrossRefPubMed

Seminog, O. O., & Goldacre, M. J. (2015). Age-specific risk of breast cancer in women with neurofibromatosis type 1. British Journal of Cancer, 112(9), 1546–1548. doi:10.1038/bjc.2015.78.CrossRefPubMedPubMedCentral

Tan, M. H., Mester, J. L., Ngeow, J., Rybicki, L. A., Orloff, M. S., & Eng, C. (2012). Lifetime cancer risks in individuals with germline PTEN mutations. Clinical Cancer Research, 18(2), 400–407. doi:10.1158/1078-0432.CCR-11-2283.CrossRefPubMedPubMedCentral

Voorwinden, J. S., & Jaspers, J. P. (2015). Prognostic factors for distress after genetic testing for hereditary cancer. Journal of Genetic Counseling. doi:10.1007/s10897-015-9894-9.PubMedPubMedCentral

Walsh, T., Lee, M. K., Casadei, S., Thornton, A. M., Stray, S. M., Pennil, C., et al. (2010). Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proceedings of the National Academy of Sciences of the United States of America, 107(28), 12629–12633. doi:10.1073/pnas.1007983107.CrossRefPubMedPubMedCentral

Weiss, D. S., & Marmar, C. R. (1997). The impact of event scale-revised. In J. P. Wilson & T. M. Keane (Eds.), Assessing psychological trauma and PTSD (p. 399-411). New York: Guilford Press.

Titel: Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients
verfasst von: Heidi S. Lumish
Hallie Steinfeld
Carrie Koval
Donna Russo
Elana Levinson
Julia Wynn
James Duong
Wendy K. Chung
Publikationsdatum: 29.03.2017
Verlag: Springer US
Erschienen in: Journal of Genetic Counseling / Ausgabe 5/2017
Print ISSN: 1059-7700
Elektronische ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-017-0090-y

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Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients

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