Abstract
We surveyed cancer genetics specialists in 1998 to learn what they would do if at 50 % risk to carry a BRCA or Lynch syndrome mutation. We chose to repeat our study 14 years later, to examine how perspectives have changed with the extensive data now available. In July 2012 we surveyed the National Society of Genetic Counselors (NSGC) Cancer Special Interest Group via an internet based survey. We found statistically significant increases in the percentage of specialists who: would undergo BRCA testing (p = 0.0006), opt for prophylactic bilateral mastectomy (p =0.0001), opt for prophylactic removal of their uterus and ovaries for Lynch syndrome (p =0.0057 and P = 0.0090, respectively), and bill testing to insurance (p >0.0001). There were also statistically significant decreases in the percentage of participants who would have their colon removed for Lynch syndrome (p = 0.0002) and use an alias when pursuing testing (p > 0.0001). Over the past 14 years there has been a major change in perspective amongst cancer genetic specialists regarding genetic testing, prophylactic surgery and insurance discrimination.
Similar content being viewed by others
References
Antoniou, A., Pharoah, P., Narod, S., Risch, H. A., Eyfjjord, 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, 1117–1130.
Burke, W., Daly, M. B., & Garber, J. (1997). Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. JAMA : The Journal of the American Medical Association, 277(12), 997–1003.
Burn, J., Gerdes, A. M., Macrae, F., Mecklin, J. P., Moeslein, G., Olschwang, S., et al. (2011). Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet, 378, 2081–2087.
Chen, S., & Parmigiani, G. (2007). Meta-Analysis of BRCA1 and BRCA2 penetrance. Journal of Clinical Oncology, 25, 1329–1333.
Cibula, D., Zikan, M., Dusek, L., & Majek, O. (2011). Oral contraceptives and risk of ovarian and breast cancers in BRCA mutation carriers: a meta-analysis. Expert Review of Anticancer Therapy, 11, 1197–1207.
CNN Living (2008). Christina Applegate: Why I had a double mastectomy. Available at: http://articles.cnn.com/2008-10-14/living/o.christina.applegate.double.mastectomy_1_christina-applegate-breast-cancer-double-mastectomy?_s=PM:LIVING Accessed December 21, 2012.
Domchek, S. M., Friebel, T. M., Singer, C. F., Evans, D. G., Lynch, H. T., Isaacs, C., et al. (2010). Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA : The Journal of the American Medical Association, 304, 967–975.
Engel, C., Rahner, N., Schulmann, K., Holinski-Feder, E., Goecke, T. O., Schackert, H. K., et al. (2010). Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer. Clinical Gastroenterology and Hepatology, 8, 174–182.
Evans, D. G., Shenton, A., Woodward, E., Lalloo, F., Howell, A., & Maher, E. R. (2008). Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a clinical cancer genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family. BMC Cancer, 8, 155.
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.
Hudson, K. L., Holohan, M. K., & Collins, F. S. (2008). Keeping pace with the times — The Genetic Information Nondiscrimination Act of 2008. The New England Journal of Medicine, 358, 2661–2663.
Jolie, A. (2013). My Medical Choice. The New York Times. Retrieved from http://www.nytimes.com.
Kauff, N. D., Domchek, S. M., Friebel, T. M., Robson, M. E., Lee, J., Garber, J. E., et al. (2008). Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. Journal of Clinical Oncology, 26, 1331–1337.
Kohlman, W. and Gruber, S.B. (2011). Lynch Syndrome. Retrieved February 16, 2012 from http://www.ncbi.nlm.nih.gov/books/NBK1211/.
Kotsopoulos, J., Lubinski, J., Lynch, H. T., Kim-Sing, C., Neuhausen, S., Demsky, R., et al. (2012). Oophorectomy after menopause and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiology, Biomarkers & Prevention, 21(7), 1089–1096.
Leib, J. R., Hoodfar, E., Haidle, J. L., & Nagy, R. (2008). The new genetic privacy law: how GINA will affect patients seeking counseling and testing for inherited cancer risk. Community Oncology, 5, 351–354.
Matloff, E. T., Shappell, H., Brierley, K., Bernhardt, B. A., McKinnon, W., & Peshkin, B. N. (2000). What would you do? Specialists’ perspectives on cancer genetic testing, prophylactic surgery, and insurance discrimination. Journal of Clinical Oncology, 18, 2484–2492.
Matloff, E. T. (2012). Cancer genetic counseling and testing: past, present and future. Cancer Journal, 18, 285–286.
National Comprehensive Cancer Network (NCCN) (2013). NCCN Clinical Practice Guidelines in Oncology: Colorectal Cancer Screening v.2.2013. Retrieved July 1, 2013, from http://www.nccn.org/professionals/physician_gls/PDF/colorectal_screening.pdf.
Passaperuma, K., Warner, E., Causer, P. A., Hill, K. A., Messner, S., Wong, J. W., et al. (2012). Long-term results of screening with magnetic resonance imaging in women with BRCA mutations. British Journal of Cancer, 107(1), 24–30.
Ray, T. (2009). Lack of Physician Education, Genetic Counseling Could Ruin Value Proposition of PGx Testing, Insurer Says. Pharmacogenomics Reporter. Available at: http://www.genomeweb.com/dxpgx/lack-physician-education-genetic-counseling-could-ruin-value-proposition-pgx-tes Accessed August 24, 2009.
Ray, T. (2010). Myriad defends policy of urging docs to genetically counsel BRACAnalysis customers. Pharmacogenomics Reporter. Available at: http://www.genomeweb.com/dxpgx/myriad-defends-policy-urging-docs-genetically-counsel-bracanalysis-customers Accessed April 3, 2012.
Rebbeck, T. R., Friebel, T., Lynch, H. T., Neuhausen, S. L., van’t Veer, L., Garber, J. E., et al. (2004). Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. Journal of Clinical Oncology, 22(6), 1055–1062.
Rudnick, J. (Director and Producer). (2008). In the family [documentary film]. United States: Kartemquin Films.
Schmeler, K. M., Lynch, H. T., Chen, L. M., Munsell, M. F., Soliman, P. T., Clark, M. B., et al. (2006). Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. The New England Journal of Medicine, 354(3), 261–269.
South, C. D., Hampel, H., Comeras, I., Westman, J. A., Frankel, W. L., & de la Chapelle, A. (2008). The frequency of Muir-Torre syndrome among Lynch syndrome families. Journal of the National Cancer Institute, 100, 277–281.
Stirling, D., Evans, D. G., Pichert, G., Shenton, A., Kirk, E. N., Rimmer, S., et al. (2005). Screening for familial ovarian cancer: failure of current protocols to detect ovarian cancer at an early stage according to the international Federation of gynecology and obstetrics system. Journal of Clinical Oncology, 3(24), 5588–5596.
van Oostrom, I., Meijers-Heijboer, H., Lodder, L. N., Duivenvoorden, H. J., van Gool, A. R., Seynaeve, C., et al. (2003). Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: A 5-year follow-up study. Journal of Clinical Oncology, 21(20), 3867–3874.
Warner, E., Hill, K., Causer, P., Plewes, D., Jong, R., Yaffe, M., et al. (2011). Prospective study of breast cancer incidence in women with a BRCA1 or BRCA2 mutation under surveillance with and without magnetic resonance imaging. Journal of Clinical Oncology, 29, 1664–1669.
Watson, P., Vasen, H. F. A., Mecklin, J.-P., Bernstein, I., Aarnio, M., Jarvinen, H. J., et al. (2008). The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. International Journal of Cancer, 123, 444–449.
Acknowledgments
Thanks to Stephanie Zito for her assistance with this manuscript.
Funding
This study was supported by an unrestricted educational grant from Intellisphere.
Intellisphere had no role in the design of the study, interpretation of the data, or preparation, review, or approval of the manuscript. They have no access to the data and will not until it is presented and/or published. They provided us with access to the services of another company which they own (HSR) for the collection, management, and basic initial analysis of the data. All formal analysis was conducted by our own team members, who are not affiliated with this company.
Disclosure of Interest
For all of the authors, none were declared.
Author information
Authors and Affiliations
Corresponding author
Electronic supplementary material
Below is the link to the electronic supplementary material.
ESM 1
(DOCX 20 kb)
Rights and permissions
About this article
Cite this article
Matloff, E.T., Bonadies, D.C., Moyer, A. et al. Changes in Specialists’ Perspectives on Cancer Genetic Testing, Prophylactic Surgery and Insurance Discrimination: Then and Now. J Genet Counsel 23, 164–171 (2014). https://doi.org/10.1007/s10897-013-9625-z
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10897-013-9625-z