Abstract
Since the 1990s, developments in the field of genetics have led to many questions on the use and possible misuse of genetic information. ‘Genetic discrimination’ has been defined as the differential treatment of asymptomatic individuals or their relatives on the basis of their real or assumed genetic characteristics. Despite the public policy attention around genetic discrimination, there is currently still much confusion surrounding this phenomenon. On the one hand, there is little evidence of the occurrence of genetic discrimination. On the other hand, it appears that people remain concerned about this theme, and this fear influences their health and life choices. This article makes use of a systematic literature review to investigate what is already known about the nature, extent and background of these fears and concerns. The 42 included studies have found considerable levels of concerns about genetic discrimination. Concerns dominate in insurance contexts and within personal interactions. The extent of concerns appears to vary depending on the type of genetic illness. Furthermore, installed laws prohibiting genetic discrimination do not seem to alleviate existing fears. This raises important questions as to the origins of these fears. Based on the findings, recommendations for future research are made. First, research on the background of fears is needed. Second, future research needs to assess more fully all different forms (for example, direct and indirect) of genetic discrimination. Thirdly, it has to be studied whether genetic discrimination is a form of discrimination that is distinguishable from discrimination based on an illness or disability. Finally, a last element that should be addressed in future research is the most recent developments in research on genomics, such as next-generation sequencing or genome-wide association studies.
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References
Sawicki, M. P., Samara, G., Hurwitz, M. & Passaro, E. Human genome project. Am. J. Surg. 165, 258–264 (1993).
Billings, P. R., Kohn, M. A., De Cuevas, M., Beckwith, J., Alpher, J. S. & Natowicz, M. R. Discrimination as a consequence of genetic testing. Am. J. Hum. Genet. 50, 476–482 (1992).
Anderlik, M. R. & Rothstein, M. A. Privacy and confidentiality of genetic information: what rules for the new science. Annu. Rev. Genomics Hum. Genet. 2, 401–433 (2001).
Natowicz, M. R., Alper, J. K. & Alper, J. S. Genetic discrimination and the law. Am. J. Hum. Genet. 50, 465–475 (1992).
Nowlan, W. J. A scarlet letter or a red herring? Nature 421, 313 (2003).
Rothenberg, K. H. & Terry, S. H. Before it’s too late: addressing fear of genetic information. Science 297, 196–197 (2002).
Joly, Y., Braker, M. & Le Huynh, M. Genetic discrimination in private insurance: global perspectives. New Genet. Soc. 29, 351–368 (2010).
Lemke, T. Perspectives on genetic discrimination, (Routledge, London, UK, 2013).
Van Hoyweghen, I. in Genetic Discrimination – Transatlantic Perspectives On The Case For A European Level Legal Response (eds Quin, G., de Paor, A. & Blanck, P.) 192–210 (Routledge, London, UK, 2014).
Joly, Y., Feze, I. N. & Simard, J. Genetic discrimination and life insurance: a systematic review of the evidence. BMC Med. 11, 1–15 (2013).
Klitzman, R. Views of discrimination among individuals confronting genetic disease. J. Genet. Couns. 19, 68–83 (2010).
Nowlan, W. J. A rational view of insurance and genetic discrimination. Science 2, 195–196 (2002).
Wertz, D. C. Genetic discrimination – an overblown fear? Nature 3, 496 (2002).
Joly, Y., Burton, B., Knopper, I., Feze, I. N., Dent, T., Pashayan, N. et al. Life insurance: genomic stratification and risk classification. Eur. J. Human Genet. 22, 575–579 (2014).
Otlowski, M. F., Taylor, S. D. & Bombard, Y. Genetic discrimination: international perspectives. Annu. Rev. Genomics Hum. 13, 433–454 (2012).
Harmon, A. Insurance Fears Lead Many to Shun DNA Tests. The New York Times (Internet). Available at http://www.nytimes.com/2008/02/24/health/24dna.html?pagewanted=all&_r=1& (2008).
Petticrew, M. & Roberts, H. Systematic reviews in the social sciences, (Blackwell, Oxford, UK, 2007).
Bombard, Y., Palin, J., Friedman, J. M., Veenstra, G., Creighton, S., Bottorff, J. L. et al. Beyond the patient: The broader impact of genetic discrimination among individuals at risk of Huntington’s disease. Am. J. Med. Genet. 159B, 217–226 (2012).
Allain, D. C., Friedman, S. & Senter, L. Consumer awareness and attitudes about insurance discrimination post enactment of the genetic information non-discrimination act. Fam. Cancer 11, 637–644 (2012).
Applebaum-Shapiro, S. E., Peters, J. A., O’Connell, J. A., Aston, C. E. & Whitcomb, M. D. Motivations and concerns of patients with access to genetic testing for hereditary pancreatitis. Am. J. Gastroenterol. 96, 1610–1617 (2001).
Armstrong, K., Calzone, K., Stopfer, J., Fitzgerald, G., Coyne, J. & Weber, B. Factors associated with decisions about clinical BRCA1/2 testing. Cancer Epidemiol. Biomararkers Prev. 9, 1251–1254 (2000).
Bernhardt, B. A., Zayac, C. & Pyeritz, R. E. Why is genetic screening for autosomal dominant disorders underused in families? The case of hereditary haemorrhagic telangiectasia. Genet. Med. 13, 812–820 (2011).
Brown, K. L., Hutchison, R., Zinberg, R. E. & McGovern, M. M. Referral and experience with genetic testing among women with early onset breast cancer. Genet. Test. 9, 301–305 (2005).
Erwin, C., Williams, J. K., Juhl, A. E., Mengeling, M., Mills, J. A., Bombard, Y. et al. Perception, experience, and response to genetic discrimination in Huntington’s disease: the international RESPOND-HD study. Am. J. Med. Genet. 1538, 1081–1093 (2010).
Hadley, D. W., Jenkins, J., Dimond, E., Nakahara, K., Grogan, L., Liewehr, D. J. et al. Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer. Arch. Intern. Med. 163, 573–582 (2003).
Hall, M. A., McEwen, J. D., Barton, J. C., Walker, A. P., Howe, E. G., Reiss, J. A. et al (2005) Concerns in a primary care population about genetic discrimination by insurers. Genet. Med. 7, 311–316 (2005).
Laskey, S. L., Williams, J., Jacqui, P.-L. & Riordan, M. O. Attitudes of African American premedical students toward genetic testing and screening. Genet. Med. 5, 49–54 (2003).
Lee, S.-C., Bernhardt, B. & Helzlsouer, K. J. Utilization of BRCA1/2 testing in the clinical setting: report from a single institution. Cancer 94, 1876–1885 (2002).
Lehmann, L. S., Weeks, J. C., Klar, N. & Garber, J. E. A population-based study of Ashkenazi Jewish women’s attitudes toward genetic discrimination and BRCA1/2 testing. Genet. Med. 4, 346–352 (2002).
Lynch, H. T., Watson, P., Tinley, S., Snyder, C., Durham, C., Lynch, J. et al. An update on DNA-based BRCA1/BRCA2 genetic counseling in hereditary breast cancer. Cancer Genet. Cytogenet. 102, 91–98 (1999).
Oster, E., Dorsey, E. R., Bausch, J., Shinaman, A., Kayson, E., Oakes, D. et al. Fear of health insurance loss among individuals at risk for Huntington’s disease. Am. J. Med. Genet. 146, 2070–2077 (2008).
Peterson, E. A., Milliron, K. J., Lewis, K. E., Goold, S. D. & Merajver, S. D. Health Insurance and discrimination concerns and BRCA1/2 testing in a clinic population. Cancer Epidemiol. Biomararker Prev. 11, 79–87 (2002).
Phillips, K.-A., Warner, E., Meschino, W. S., Hunter, J., Abdolell, M., Glendon, G. et al. Perceptions of Ashkenazi Jewish breast cancer patients on genetic testing for mutations in BRCA1 and BRCA2. Clin. Genet. 57, 376–383 (2000).
Pwell, A., Chandrsekharan, S. & Cook-Deegan, R. Spinocerebellar ataxia: patient and health professional perspectives on whether and how patents affect access to clinical genetic testing. Genet.Med. 12, 83–110 (2010).
Quinlivan, J. A., Battikhi, Z. & Petersen, R. W. What factors impact upon a woman’s decision to undertake genetic cancer testing? Cancer Genet. 3, 1–6 (2014).
Rose, A. L., Peters, N., Shea, J. A. & Armstrong, K. Attitudes and misconceptions about predictive genetic testing for cancer. Community Genet. 8, 145–151 (2005).
Warner, B. J., Curnow, L. J., Polglase, A. L. & Debinski, H. S. Factors influencing uptake of genetic testing for colorectal cancer risk in an Australian Jewish population. J. Genet. Couns. 14, 387–394 (2005).
Kass, N. E., Medley, A. M., Natowicz, R., Hull, S., Faden, R. R. & Platinga, L. Access to health insurance: experiences and attitudes of those with genetic versus non-genetic medical conditions. Am. J. Med. Genet. 143A, 707–717 (2007).
Apse, K. A., Biesecker, B. B., Giardiello, F., Fuller, B. P. & Bernhardt, A. Perceptions of genetic discrimination among at-risk relatives of colorectal cancer patients. Genet. Med. 6, 510–516 (2004).
Armstrong, K., Weber, B., FitzGerald, G., Hershey, J. C., Pauly, M. V., Lemaire, J. et al. Life insurance and breast cancer risk assessment: adverse selection, genetic testing decisions, and discrimination. Am. J. Med. Genet. 120A, 359–364 (2003).
Bernhardt, B. A., Geller, G., Strauss, M., Helzlsouer, K. J., Stefanek, M. & Wilcox, P. M. Toward a model informed consent process for BRCA1 testing: a qualitative assessment of women ' s attitudes. J. Genet. Couns. 6, 207–222 (1997).
Bombard, Y., Penziner, E., Suchowersky, O., Guttman, M., Paulsen, J. S., Bottorff, J. L. et al. Engagement with genetic discrimination: concerns and experiences in the context of Huntington’s disease. Eur. J. Hum. Genet. 16, 279–2789 (2008).
McKinnon, W., Banks, K. C., Skelly, J., Kohlmann, W., Bennett, R., Shannon, K. et al. Survey of unaffected BRCA and mismatch repair (MMR) mutation positive individuals. Fam. Cancer 8, 363–369 (2009).
Wingrove, K. J., Norris, J., Barton, P. L. & Hagerman, R. Experiences and attitudes concerning genetic testing and insurance in a Colorado population: a survey of families diagnosed with fragile X syndrome. Am. J. Med. Genet. 64, 378–381 (1996).
Van Leeuwen, D. J. & Bernat, J. L. Ethical, social and legal implications of genetic testing in liver disease. Hepatology 43, 1195–1201 (2006).
Lemke, T. A slap in the face. An exploratory study of genetic discrimination in Germany. Genomics Soc. Policy 5, 22–39 (2009).
Penziner, E., Williams, J. K., Erwin, C., Bombard, Y., Wallis, A., Beglinger, L. J. et al. Perceptions of discrimination among persons who have undergone predictive testing for Huntington’s disease. Am. J. Med. Genet. 147, 320–325 (2008).
Lynch, H. T., Lemon, S. J., Durham, C., Tinley, S. T., Connolly, C., Lynch, J. F. et al. A descriptive study of BRCA1 testing and reactions to disclosure of test results. Cancer 79, 2219–2228 (1997).
Ulrich, C. M., Kristal, A. R., White, E., Hunt, J. R., Durfy, S. J. & Potter, J. D. Genetic testing for cancer risk: a population survey on attitudes and intention. Community Genet. 1, 213–222 (1998).
Wilkinson, R. H. Unjustified discrimination: is the moratorium on the use of genetic test results by insurers a contradiction in terms? Health Care Anal. 18, 279–293 (2010).
Geelen, E., Horstman, K., Marcelis, C. L., Doevendans, P. A. & Van Hoyweghen, I. Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts. Eur. J. Human Genet. 20, 1018–1023 (2012).
Parkman, A. A., Foland, J., Anderson, B., Duquette, D., Sobotka, H., Lynn, M. et al. Public awareness of genetic non discrimination laws in four states and perceived importance of life insurance protections. J. Genet. Couns. 24, 512–521 (2014).
Henneman, L. & Van Hoyweghen, I. Moving beyond public fear of genetic discrimination. Asia insurance Rev. 1, 64–65 (2013).
Bates, B. R., Lynch, J. A., Bevan, J. L. & Condit, C. M. Warranted concerns, warranted outlooks: a focus group study of public understandings of genetic research. Soc. Sci. Med. 60, 331–344 (2005).
De Cristofare, E. An exploratory ethnographic study of issues and concerns with whole genome sequencing. Preprint at http://arxiv.org/pdf/1306.4962.pdf (2013).
Geer, K. P., Ropka, M. E., Cohn, W. F., Jones, S. M. & Miesfeldt, S. Factors influencing patients’ decisions to decline cancer genetic counseling services. J. Genet. Couns. 10, 25–40 (2001).
Goh, A. M. Y., Chiu, E., Yastrubetskaya, O., Erwin, C., Williams, J. K., Juhl, A. R. et al. Perception, experience, and response to genetic discrimination in Huntington’s disease: the Australian results of the international RESPOND-HD study. Genet. Test Mol. Biomarkers 17, 115–121 (2013).
Lapham, V. L., Kozman, C. & Weiss, J. O. Genetic discrimination: perspectives of consumers. Science 274, 621–624 (1996).
Roberts, M. E., Rieger-Johnson, D. L. & Thomas, B. C. Self-diagnosis of Lynch syndrome using direct to consumer genetic testing: a case study. J. Genet. Couns. 20, 327–329 (2011).
Tambor, E. S., Bernhardt, B. A., Rodgers, J. & Holtzman, N. A. Mapping the human genome: an assessment of media coverage and public reaction. Genet. Med. 4, 31–36 (2002).
Taylor, S. A population-based survey in Australia of men’s and women’s perceptions of genetic risk and predictive genetic testing and implications for primary care. Public Health Genom. 14, 325–336 (2011).
Joly, Y., Burton, B., Knoppers, B. M. et al. Life insurance: genomic stratification and risk classification. Eur. J. Hum. Gen. 22, 576–579 (2014).
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Wauters, A., Van Hoyweghen, I. Global trends on fears and concerns of genetic discrimination: a systematic literature review. J Hum Genet 61, 275–282 (2016). https://doi.org/10.1038/jhg.2015.151
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DOI: https://doi.org/10.1038/jhg.2015.151
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