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Psychological Impact of Genetic Testing

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Handbook of Stressful Transitions Across the Lifespan

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Abstract

News reports about how our genes affect many aspects of our life and health are increasing in both frequency and complexity. The last several years have seen amazing progress in our understanding of human genetics. The completion of the Human Genome Project in 2003 brought this issue into the mainstream more than any other single event (Collins et al 2003). Perhaps contrary to expectations, this milestone created more questions than it answered. Certainly, knowledge of the human genome sequence has increased the pace of genetic discovery for many diseases, but translating discoveries into patient care applications is not always straightforward.

One way that genetic disease information can be harnessed in clinical medicine is through genetic testing. In the coming years, information about our genes will lead to the routine use of diagnostic testing, based on genetic markers for common diseases such as asthma, coronary artery disease, and diabetes. Genetic tests for these diseases may lead to substantive changes in medical management depending on the results. However, many of the genetic changes associated with these disorders have only a small risk effect, and a person may need to inherit several of these “small effect” genes to develop the condition. These are called complex genetic diseases, and the reader is referred to recent reviews that discuss how to understand and apply the information from such studies in clinical care (Attia et al. 2009a, 2009b, 2009c; Fontanarosa et al. 2008).

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References

  • ACOG Committee Opinion. Number 325, December 2005. Update on carrier screening for cystic fibrosis. (2005). Obstet Gynecol, 106(6), 1465–1468.

    Google Scholar 

  • Amos, J., & Patnaik, M. (2002). Commercial molecular diagnostics in the US The Human Genome Project to the clinical laboratory. Human Mutation, 19(4), 324–333.

    Article  PubMed  Google Scholar 

  • Armstrong, K., Micco, E., Carney, A., Stopfer, J., & Putt, M. (2005). Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer. JAMA, 293(14), 1729–1736.

    Article  PubMed  Google Scholar 

  • ASHG/ACMG. (1995). Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. American Journal of Human Genetics, 57(5), 1233–1241.

    Google Scholar 

  • Attia, J., Ioannidis, J. P., Thakkinstian, A., McEvoy, M., Scott, R. J., Minelli, C., et al. (2009a). How to use an article about genetic association: A: Background concepts. JAMA, 301(1), 74–81.

    Article  PubMed  Google Scholar 

  • Attia, J., Ioannidis, J. P., Thakkinstian, A., McEvoy, M., Scott, R. J., Minelli, C., et al. (2009b). How to use an article about genetic association: B: Are the results of the study valid? JAMA, 301(2), 191–197.

    Article  PubMed  Google Scholar 

  • Attia, J., Ioannidis, J. P., Thakkinstian, A., McEvoy, M., Scott, R. J., Minelli, C., et al. (2009c). How to use an article about genetic association: C: What are the results and will they help me in caring for my patients? JAMA, 301(3), 304–308.

    Article  PubMed  Google Scholar 

  • Baum, A., Friedman, A. L., & Zakowski, S. G. (1997). Stress and genetic testing for disease risk. Health Psychology, 16(1), 8–19.

    Article  PubMed  Google Scholar 

  • Beck, A. T., & Steer, R. A. (1988). Manual for the Beck Hopelessness Scale. San Antonio, TX: Psychological Corporation.

    Google Scholar 

  • Biesecker, B. B., Boehnke, M., Calzone, K., Markel, D. S., Garber, J. E., Collins, F. S., et al. (1993). Genetic counseling for families with inherited susceptibility to breast and ovarian cancer. JAMA, 269(15), 1970–1974.

    Article  PubMed  Google Scholar 

  • Borry, P., Stultiens, L., Nys, H., Cassiman, J. J., & Dierickx, K. (2006). Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Clinical Genetics, 70(5), 374–381.

    Article  PubMed  Google Scholar 

  • Burke, W. (2002). Genetic testing. New England Journal of Medicine, 347(23), 1867–1875.

    Article  PubMed  Google Scholar 

  • Codori, A. M., Slavney, P. R., Young, C., Miglioretti, D. L., & Brandt, J. (1997). Predictors of psychological adjustment to genetic testing for Huntington's disease. Health Psychology, 16(1), 36–50.

    Article  PubMed  Google Scholar 

  • Codori, A. M., Zawacki, K. L., Petersen, G. M., Miglioretti, D. L., Bacon, J. A., Trimbath, J. D., et al. (2003). Genetic testing for hereditary colorectal cancer in children: long-term psychological effects. American Journal of Medical Genetics, 116(2), 117–128.

    Article  Google Scholar 

  • Collins, F. S., Green, E. D., Guttmacher, A. E., & Guyer, M. S. (2003). A vision for the future of genomics research. Nature, 422(6934), 835–847.

    Article  PubMed  Google Scholar 

  • Control of direct-to-consumer genetic testing. (2008). Lancet, 372(9647), 1360.

    Google Scholar 

  • Corbie-Smith, G., Thomas, S. B., & St George, D. M. (2002). Distrust, race, and research. Archives of Internal Medicine, 162(21), 2458–2463.

    Article  PubMed  Google Scholar 

  • Couch, F. J., DeShano, M. L., Blackwood, M. A., Calzone, K., Stopfer, J., Campeau, L., et al. (1997). BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. New England Journal of Medicine, 336(20), 1409–1415.

    Article  PubMed  Google Scholar 

  • Derogatis, L. R. (1994). Symptom Checklist-90-R Administration, Scoring and procedures manual. Minneapolis, MN: National Computer Systems.

    Google Scholar 

  • DudokdeWit, A. C., Tibben, A., Duivenvoorden, H. J., Niermeijer, M. F., & Passchier, J. (1998). Predicting adaptation to presymptomatic DNA testing for late onset disorders: who will experience distress? Rotterdam Leiden Genetics Workgroup. Journal of Medical Genetics, 35(9), 745–754.

    Article  PubMed  Google Scholar 

  • Easton, D. F., Ford, D., & Bishop, D. T. (1995). Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. American Journal of Human Genetics, 56(1), 265–271.

    PubMed  Google Scholar 

  • Eden-Piercy, G. V., Blacher, J. B., & Eyman, R. K. (1986). Exploring parents’ reactions to their young child with severe handicaps. Mental Retardation, 24(5), 285–291.

    PubMed  Google Scholar 

  • Fontanarosa, P. B., Pasche, B., & DeAngelis, C. D. (2008). Genetics and genomics for clinicians. JAMA, 299(11), 1364–1365.

    Article  PubMed  Google Scholar 

  • Ford, D., Easton, D. F., Bishop, D. T., Narod, S. A., & Goldgar, D. E. (1994). Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet, 343(8899), 692–695.

    Article  PubMed  Google Scholar 

  • Ford, D., Easton, D. F., Stratton, M., Narod, S., Goldgar, D., Devilee, P., et al. (1998). Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. American Journal of Human Genetics, 62(3), 676–689.

    Article  PubMed  Google Scholar 

  • Fox, S., Bloch, M., Fahy, M., & Hayden, M. R. (1989). Predictive testing for Huntington disease: I. Description of a pilot project in British Columbia. American Journal of Medical Genetics, 32(2), 211–216.

    Article  PubMed  Google Scholar 

  • Gardner, R. A. (1969). The guilt reaction of parents of children with severe physical disease. American Journal of Psychiatry, 126(5), 636–644.

    PubMed  Google Scholar 

  • Green, M. (1986). Vulnerable child syndrome and its variants. Pediatrics in Review, 8(3), 75–80.

    Article  PubMed  Google Scholar 

  • Groden, J., Thliveris, A., Samowitz, W., Carlson, M., Gelbert, L., Albertsen, H., et al. (1991). Identification and characterization of the familial adenomatous polyposis coli gene. Cell, 66(3), 589–600.

    Article  PubMed  Google Scholar 

  • Gusella, J. F., Wexler, N. S., Conneally, P. M., Naylor, S. L., Anderson, M. A., Tanzi, R. E., et al. (1983). A polymorphic DNA marker genetically linked to Huntington’s disease. Nature, 306(5940), 234–238.

    Article  PubMed  Google Scholar 

  • Guttmacher, A. E., & Collins, F. S. (2002). Genomic medicine–a primer. New England Journal of Medicine, 347(19), 1512–1520.

    Article  PubMed  Google Scholar 

  • Halbert, C., Kessler, L., Collier, A., Paul Wileyto, E., Brewster, K., & Weathers, B. (2005). Psychological functioning in African American women at an increased risk of hereditary breast and ovarian cancer. Clinical Genetics, 68(3), 222–227.

    Article  PubMed  Google Scholar 

  • Herrera, L., Carrel, A., Rao, U., Castillo, N., & Petrelli, N. (1989). Familial adenomatous polyposis in association with thyroiditis. Report of two cases. Diseases of the Colon and Rectum, 32(10), 893–896.

    Article  PubMed  Google Scholar 

  • Hesbacher, P. T., Rickels, K., Morris, R. J., Newman, H., & Rosenfeld, H. (1980). Psychiatric illness in family practice. Journal of Clinical Psychiatry, 41(1), 6–10.

    PubMed  Google Scholar 

  • Horowitz, M., Wilner, N., & Alvarez, W. (1979). Impact of Event Scale: A measure of subjective stress. Psychosomatic Medicine, 41(3), 209–218.

    PubMed  Google Scholar 

  • Kash, K. M., Holland, J. C., Halper, M. S., & Miller, D. G. (1992). Psychological distress and surveillance behaviors of women with a family history of breast cancer. Journal of the National Cancer Institute, 84(1), 24–30.

    Article  PubMed  Google Scholar 

  • Khoury, M. J., McCabe, L. L., & McCabe, E. R. (2003). Population screening in the age of genomic medicine. New England Journal of Medicine, 348(1), 50–58.

    Article  PubMed  Google Scholar 

  • Kinzler, K. W., Nilbert, M. C., Su, L. K., Vogelstein, B., Bryan, T. M., Levy, D. B., et al. (1991). Identification of FAP locus genes from chromosome 5q21. Science, 253(5020), 661–665.

    Article  PubMed  Google Scholar 

  • Kovacs, M. (1985). The Children’s Depression, Inventory (CDI). Psychopharmacology Bulletin, 21(4), 995–998.

    PubMed  Google Scholar 

  • Kuehn, B. M. (2008). Risks and benefits of direct-to-consumer genetic testing remain unclear. JAMA, 300(13), 1503–1505.

    Article  PubMed  Google Scholar 

  • Lerman, C., Daly, M., Sands, C., Balshem, A., Lustbader, E., Heggan, T., et al. (1993). Mammography adherence and psychological distress among women at risk for breast cancer. Journal of the National Cancer Institute, 85(13), 1074–1080.

    Article  PubMed  Google Scholar 

  • Lerman, C., Narod, S., Schulman, K., Hughes, C., Gomez-Caminero, A., Bonney, G., et al. (1996). BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. JAMA, 275(24), 1885–1892.

    Article  PubMed  Google Scholar 

  • Lerman, C., Trock, B., Rimer, B. K., Jepson, C., Brody, D., & Boyce, A. (1991). Psychological side effects of breast cancer screening. Health Psychology, 10(4), 259–267.

    Article  PubMed  Google Scholar 

  • Licklederer, C., Wolff, G., & Barth, J. (2008). Mental health and quality of life after genetic testing for Huntington disease: a long-term effect study in Germany. American Journal of Medical Genetics, 146A(16), 2078–2085.

    Article  PubMed  Google Scholar 

  • Lwiwski, N., Greenberg, C. R., & Mhanni, A. A. (2008). Genetic testing of children at risk for adult onset conditions: when is testing indicated? Journal of genetic counseling, 17(6), 523–525.

    Article  PubMed  Google Scholar 

  • Lynch, H. T., Drouhard, T., Vasen, H. F., Cavalieri, J., Lynch, J., Nord, S., et al. (1996). Genetic counseling in a Navajo hereditary nonpolyposis colorectal cancer kindred. Cancer, 77(1), 30–35.

    Article  PubMed  Google Scholar 

  • Lynch, H. T., Watson, P., Tinley, S., Snyder, C., Durham, C., Lynch, J., et al. (1999). An update on DNA-based BRCA1/BRCA2 genetic counseling in hereditary breast cancer. Cancer Genetics and Cytogenetics, 109(2), 91–98.

    Article  PubMed  Google Scholar 

  • Malone, K. E., Daling, J. R., Doody, D. R., Hsu, L., Bernstein, L., et al. (2006). Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years. Cancer Research 66, 8297–8308.

    Article  PubMed  Google Scholar 

  • Middleton, A., Hewison, J., & Mueller, R. F. (1998). Attitudes of deaf adults toward genetic testing for hereditary deafness. American Journal of Human Genetics, 63(4), 1175–1180.

    Article  PubMed  Google Scholar 

  • Oster, E., Dorsey, E. R., Bausch, J., Shinaman, A., Kayson, E., Oakes, D., et al. (2008). Fear of health insurance loss among individuals at risk for Huntington disease. American Journal of Medical Genetics, 146A(16), 2070–2077.

    Article  PubMed  Google Scholar 

  • Petersen, G. M., Francomano, C., Kinzler, K., & Nakamura, Y. (1993). Presymptomatic direct detection of adenomatous polyposis coli (APC) gene mutations in familial adenomatous polyposis. Human Genetics, 91(4), 307–311.

    Article  PubMed  Google Scholar 

  • Powell, S. M., Petersen, G. M., Krush, A. J., Booker, S., Jen, J., Giardiello, F. M., et al. (1993). Molecular diagnosis of familial adenomatous polyposis. New England Journal of Medicine, 329(27), 1982–1987.

    Article  PubMed  Google Scholar 

  • Press, N. A., Yasui, Y., Reynolds, S., Durfy, S. J., & Burke, W. (2001). Women’s interest in genetic testing for breast cancer susceptibility may be based on unrealistic expectations. American Journal of Medical Genetics, 99(2), 99–110.

    Article  PubMed  Google Scholar 

  • Rose, A., Peters, N., Shea, J. A., & Armstrong, K. (2004). Development and testing of the health care system distrust scale. Journal of General Internal Medicine, 19(1), 57–63.

    Article  PubMed  Google Scholar 

  • Schwartz, M. D., Peshkin, B. N., Hughes, C., Main, D., Isaacs, C., & Lerman, C. (2002). Impact of BRCA1/BRCA2 mutation testing on psychologic distress in a clinic-based sample. Journal of Clinical Oncology, 20(2), 514–520.

    Article  PubMed  Google Scholar 

  • Struewing, J. P., Hartge, P., Wacholder, S., Baker, S. M., Berlin, M., McAdams, M., et al. (1997). The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. New England Journal of Medicine, 336(20), 1401–1408.

    Article  PubMed  Google Scholar 

  • Thomasgard, M., & Metz, W. P. (1995). The vulnerable child syndrome revisited. Journal of Developmental and Behavioral Pediatrics, 16(1), 47–53.

    Article  PubMed  Google Scholar 

  • Tibben, A., Timman, R., Bannink, E. C., & Duivenvoorden, H. J. (1997). Three-year follow-up after presymptomatic testing for Huntington’s disease in tested individuals and partners. Health Psychology, 16(1), 20–35.

    Article  PubMed  Google Scholar 

  • Weiss, D. S., & Marmar, C. R. (1996). The Impact of Event Scale – Revised. New York: Guilford.

    Google Scholar 

  • Wiggins, S., Whyte, P., Huggins, M., Adam, S., Theilmann, J., Bloch, M., et al. (1992). The psychological consequences of predictive testing for Huntington’s disease. Canadian Collaborative Study of Predictive Testing. New England Journal of Medicine, 327(20), 1401–1405.

    Article  PubMed  Google Scholar 

  • Zigmond, A. S., & Snaith, R. P. (1983). The Hospital Anxiety And Depression Scale. Acta Psychiatrica Scandinavica, 67, 361–370.

    Article  PubMed  Google Scholar 

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  1. Division of Genetics and Dept. of Laboratory Medicine Children’s Hospital, Boston, Boston, Massachusetts, USA

    David T. Miller

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  1. College of Medicine, University of Kentucky, Saxon Drive 3237, Lexington, 40503-3428, U.S.A.

    Thomas W. Miller

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Miller, D.T. (2010). Psychological Impact of Genetic Testing. In: Miller, T. (eds) Handbook of Stressful Transitions Across the Lifespan. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-0748-6_29

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