Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-78c5997874-t5tsf Total loading time: 0 Render date: 2024-11-19T13:18:34.420Z Has data issue: false hasContentIssue false

10 - Genomic Literacy and the Communication of Genetic and Genomic Information

Published online by Cambridge University Press:  06 October 2017

By
Kimberly A. Kaphingst
Edited by
Susan Bouregy ,
Elena L. Grigorenko ,
Stephen R. Latham  and
Mei Tan
Susan Bouregy
Affiliation:
Yale University, Connecticut
Elena L. Grigorenko
Affiliation:
Yale University, Connecticut
Stephen R. Latham
Affiliation:
Yale University, Connecticut
Mei Tan
Affiliation:
University of Texas, Houston
Get access
Type
Chapter
Information
Genetics, Ethics and Education , pp. 221 - 242
Publisher: Cambridge University Press
Print publication year: 2017

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Ashida, S., Goodman, M., Pandaya, C., Koehly, L. M., Lachance, C., Stafford, J. D., et al. (2011). Age differences in genetic knowledge, health literacy, and causal beliefs for health conditions. Public Health Genomics, 14(4–5), 307–316.Google Scholar
Bates, B. R., Templeton, A., Achter, P. J., Harris, T. M., & Condit, C. M. (2003). What does “a gene for heart disease” mean? A focus group study of public understanding of genetic risk factors. American Journal of Medical Genetics Part A, 119A, 156–161.Google Scholar
Berkman, N., Sheridan, S., Donahue, K., Halpern, D., Viera, A., Crotty, K., et al. (2011). Health literacy interventions and outcomes: An updated systematic review. Evidence Report/Technology Assessment No 1999. Rockville, MD: Agency for Healthcare Research and Quality.Google Scholar
Biesecker, L. G., Mullikin, J. C., Facio, F. M., Turner, C., Cherukuri, P. F., Blakesley, R. W., et al. (2009). The ClinSeq Project: Pilot large-scale genome sequencing for research in genomic medicine. Genome Research, 19, 1665–1674.Google Scholar
Borry, P., Evers-Kiebooms, G., Cornel, M. C., Clarke, A., Dierickx, K., & Public and Professional Policy Committee of the European Society of Human Genetics. (2009). Genetic testing in asymptomatic minors: Background considerations toward ESHG recommendations. European Journal of Human Genetics, 17, 711–719.CrossRefGoogle Scholar
Bowling, B. V., Acra, E. E., Wang, L., Myers, M. F., Dean, G. E., Markle, G. C., et al. (2008). Development and evaluation of a genetics literacy assessment instrument for undergraduates. Genetics, 178, 15–22.Google Scholar
Brewer, N. T., Tzeng, J. P., Lillie, S. E., Edwards, A. S., Peppercorn, J. M., & Rimer, B. K. (2009). Health literacy and cancer risk perception: Implications for genomic risk communication. Medical Decision Making, 29, 159–166.Google Scholar
Brown, S. M., Culver, J. O., Osann, K. E., MacDonald, D. J., Sand, S., Thornton, A. A., et al. (2011). Health literacy, numeracy, and interpretation of graphical breast cancer risk estimates. Patient Education and Counseling, 83(1), 92–98.Google Scholar
Callanan, N., Bloom, D., Sorenson, J. R., DeVellis, B., & Cheuvront, B. (1995). CF carrier testing: Experience of relatives. Journal of Genetic Counseling, 4, 83–95.CrossRefGoogle ScholarPubMed
Carlsbeek, H., Morren, M., Bensing, J., & Rijken, M. (2007). Knowledge and attitudes towards genetic testing: A two year follow-up study in patients with asthma, diabetes mellitus and cardiovascular disease. Journal of Genetic Counseling, 16(4), 493–504.Google Scholar
Catz, D. S., Green, N. S., Tobin, J. N., Lloyd-Puryear, M. A., Kyler, P., Umemoto, A., et al. (2005). Attitudes about genetics in underserved, culturally diverse populations. Community Genetics, 8, 161–172.Google Scholar
Christensen, K. D., Jayaratne, T. E., Roberts, J. S., Kardia, S. L. R., & Petty, E. M. (2010). Understandings of basic genetics in the United States: Results from a national survey of Black and White men and women. Public Health Genomics, 13, 467–476.CrossRefGoogle ScholarPubMed
Cohen, L., Fine, B., & Pergament, E. (1998). An assessment of ethnocultural beliefs regarding the cause of birth defects and genetic disorders. Journal of Genetic Counseling, 50, 15–29.Google Scholar
Condit, C. (2010). Public understandings of genetics and health. Clinical Genetics, 77, 1–9.Google Scholar
Davis, T. C., Long, S. W., Jackson, R. H., Mayeaux, E. J., George, R. B., Murphy, P. W., et al. (1993). Rapid Estimate of Adult Literacy in Medicine: A shortened screening instrument. Family Medicine, 25, 391–395.Google Scholar
Decruyenaere, M., Evers-Kiebooms, G., Welkenhusen, M., Denayer, L., & Claes, E. (2000). Cognitive representations of breast cancer, emotional distress and preventive health behaviour: A theoretical perspective. Psycho-Oncology, 9, 528–536.Google Scholar
Dorval, M., Bouchard, K., Chiquette, J., Glendon, G., Maugard, C. M., Dubuisson, W., et al. (2013). A focus group study on breast cancer risk presentation: One format does not fit all. European Journal of Human Genetics, 21, 719–724.Google Scholar
Dougherty, M., Pleasants, C., Solow, L., Wong, A., & Zhang, H. (2011). A comprehensive analysis of high school genetics standards: Are states keeping pace with modern genetics? CBE Life Sci Educ, 10, 318–327.CrossRefGoogle ScholarPubMed
Dougherty, M. J., Lontok, K. S., Donigan, K., & McInerney, J. D. (2014). The critical challenge of educating the public about genetics. Current Genetic Medicine Reports, 2, 48-55..Google Scholar
Edwards, A., Gray, J., Clarke, A., Dundon, J., Elwyn, G., Gaff, C., et al. (2008). Interventions to improve risk communication in clinical genetics: Systematic review. Patient Education and Counseling, 71, 4–25.Google Scholar
Emery, J., Kumar, S., & Smith, H. (1998). Patient understanding of genetic principles and their expectations of genetic services within NHS: A qualitative study. Community Genetics, 1, 78–83.Google Scholar
Erby, L., Roter, D., Larson, S., & Cho, J. (2008). The Rapid Estimate of Adult Literacy in Genetics (REAL-G): A means to assess literacy deficits in the context of genetics. American Journal of Medical Genetics, 146A, 174–181.CrossRefGoogle Scholar
Fagerlin, A., Zikmund-Fisher, B. J., & Ubel, P. A. (2011). Helping patients decide: Ten steps to better risk communication. Journal of the National Cancer Institute, 103, 1436–1443.Google Scholar
Friedman Ross, L., Saal, H. M., David, K. L., Anderson, R. R., & American Academy of Pediatrics & Genomics. (2013). Technical report: Ethical and policy issues in genetic testing and screening of children. Genetics in Medicine, 15(3), 234–245.Google Scholar
Furr, L. A., & Kelly, S. E. (1999). The genetic knowledge index: Developing a standard measure of genetic knowledge. Genetic Testing, 3(2), 193–199.CrossRefGoogle ScholarPubMed
Geller, G., Tambor, E. S., Bernhardt, B. A., Fraser, G., & Wissow, L. S. (2003). Informed consent for enrolling minor in genetic susceptibility research: A qualitative study of at-risk children’s and parents’ views about children’s role in decision-making. Journal of Adolescent Health, 32(4), 260–271.Google Scholar
Goldbeck, A. L., Ahlers-Smith, C. R., & Paschal, A. M. (2005). A definition and operational framework for health numeracy. American Journal of Preventive Medicine, 29(4), 375–376.Google Scholar
Green, E. D., Guyer, M. S., & National Human Genome Research Institute. (2011). Charting a course for genomic medicine from base pairs to bedside. Nature, 470, 204–213.Google Scholar
Green, M. J., Peterson, S. K., Baker, M. W., Harper, G. R., Friedman, L. C., Rubinstein, W. S., et al. (2004). Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility: A randomized controlled trial. JAMA, 292, 442–452.Google Scholar
Guttmacher, A. E., & Collins, F. S. (2002). Genomic medicine – A primer. New England Journal of Medicine, 347, 1512–1520.CrossRefGoogle ScholarPubMed
Haga, S. B., Barry, W. T., Mills, R., Ginsberg, G. S., Svetkey, L. P., Sullivan, J., et al. (2013). Public knowledge of and attitudes toward genetics and genetic testing. Genetic Testing and Molecular Biomarkers, 17(4), 327–335.CrossRefGoogle ScholarPubMed
Haga, S. B., Rosanbalm, K. D., Boles, L., Tindall, G. M., Livingston, T. M., & O’Daniel, J. M. (2013). Promoting public awareness and engagement in genome sciences. Journal of Genetic Counseling, 22, 508–516.Google Scholar
Hall, M. J., Forman, A. D., Montgomery, S. V., Rainey, K. L., & Daly, M. B. (2014). Understanding patient and provider perceptions and expectations of genomic medicine. Journal of Surgical Oncology, 111(1), 9–17.Google Scholar
Hay, J. L., Meischke, H. W., Bowen, D. J., Mayer, J., Shoveller, J., Press, N., et al. (2007). Anticipating dissemination of cancer genomics in public health: A theoretical approach to psychosocial and behavioral challenges. Annals of Behavioral Medicine, 34(3), 275–286.Google Scholar
Henneman, L., Timmermans, D. R. M., & van der Wal, G. (2004). Public experiences, knowledge and expectations about medical genetics and the use of genetic information. Community Genetics, 7, 33–43.Google Scholar
Hooker, G. W., Peay, H., Erby, L., Bayless, T., Biesecker, B. B., & Roter, D. L. (2014). Genetics literacy and patient perceptions of IBD testing utility and disease control: A randomized vignette study of genetic testing. Inflammatory Bowel Diseases, 20(5), 901–908.Google Scholar
Hughes, C., Gomez-Caminero, A., Benkendorf, J., Kerner, J., Isaacs, C., Barter, J., et al. (1997). Ethnic differences in knowledge and attitudes about BRCA1 testing in women at increased risk. Patient Education and Counseling, 32(1–2), 51–62.Google Scholar
Hurle, B., Citrin, T., Jenkins, J. F., Kaphingst, K. A., Lamb, N., Roseman, J., et al. (2013). What does it mean to be genomically literate? National Human Genome Research Institute meeting report. Genetics in Medicine, 15, 658–663.CrossRefGoogle ScholarPubMed
Ishiyama, I., Nagai, A., Muto, K., Tamakoshi, A., Kokado, M., Mimura, K., et al. (2008). Relationship between public attitudes toward genomic studies related to medicine and their level of genomic literacy in Japan. American Journal of Medical Genetics, 146A, 1696–1706.Google Scholar
Jallinoja, P., & Aro, A. A. (1999). Knowledge about genes and heredity among Finns. New Genetics and Society, 18(1), 101–110.Google Scholar
Kaphingst, K., & McBride, C. (2010). Patient responses to genetic information: Studies of patients with hereditary cancer syndromes identify issues for use of genetic testing in nephrology practice. Seminars in Nephrology, 30(2), 203–214.Google Scholar
Kaphingst, K. A., Blanchard, M., Milam, L., Pokharel, M., Elrick, A., & Goodman, M. S. (2016). Relationships between health literacy and genomics-related knowledge, self-efficacy, perceived importance, and communication in a medically underserved population. Journal of Health Communication, 21(Suppl. 1), 58–68.Google Scholar
Kaphingst, K. A., Facio, F. M., Cheng, M.-R., Brooks, S., Eidem, H., Linn, A., et al. (2012). Effects of informed consent for individual genome sequencing on relevant knowledge. Clinical Genetics, 82(5), 408–415.Google Scholar
Kaphingst, K. A., Lachance, C. R., Gepp, A., D’Anna, L. H., & Rios-Ellis, B. (2011). Educating underserved Latino communities about family health history using lay health advisors. Public Health Genomics, 14(4–5), 211–221.Google Scholar
Kaphingst, K. A., McBride, C. M., Wade, C. H., Alford, S. H., Brody, L. C., & Baxevanis, A. D. (2010). Consumers’ use of web-based information and their decisions about multiplex genetic susceptibility testing. Journal of Medical Internet Research, 12(3), e41.Google Scholar
Kaphingst, K. A., McBride, C. M., Wade, C. H., Baxevanis, A. D., Reid, R. J., Larson, E. B., et al. (2012). Patients’ understanding of and responses to multiplex genetic susceptibility test results. Genetics in Medicine, 14, 681–687.Google Scholar
Kaphingst, K. A., Stafford, J. D., McGowan, L. D. A., Seo, J., Lachance, C. R., & Goodman, M. S. (2015). Effects of racial and ethnic group and health literacy on responses to genomic risk information in a medically underserved population. Health Psychology, 34(2), 101–110.Google Scholar
Kelly, K., Leventhal, H., Marvin, M., Toppmeyer, D., Baran, J., & Schwalb, M. (2004). Cancer genetics knowledge and beliefs and receipt of results in Ashkenazi Jewish individuals receiving counseling for BRCA1/2 mutations. Cancer Control, 11(4), 236–244.Google Scholar
Kessler, L., Collier, A., & Halbert, C. H. (2007). Knowledge about genetics among African Americans. Journal of Genetic Counseling, 16(2), 191–200.Google Scholar
Khoury, M. J. (2003). Genetics and genomics in practice: The continuum from genetic disease to genetic information in health and disease. Genetics in Medicine, 5(4), 261–268.Google Scholar
Khoury, M. J., Gwinn, M., Yoon, P. W., Dowling, N. F., Moore, C. A., & Bradley, L. A. (2007). The continuum of translation research in genomic medicine: How can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? Genetics in Medicine, 9, 665–674.Google Scholar
Kleiderman, E., Knoppers, B. M., Fernandez, C. V., Boycott, K. M., Ouellette, G., Wong-Rieger, D., et al. (2014). Returning incidental findings from genetic research to children: Views of parents of children affected by rare diseases. Journal of Medical Ethics, 40, 691–696.Google Scholar
Kutner, M., Greenberg, E., Jin, Y., Paulsen, C., & White, S. (2006). The health literacy of America’s adults: Results from the 2003 National Assessment of Adult Literacy. Washington, DC: National Center for Education Statistics.Google Scholar
Lachance, C., Erby, L. H., Ford, B. M., Allen, V. C., & Kaphingst, K. A. (2010). Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers. Genetics in Medicine, 12(5), 304–312.Google Scholar
Lafayette, D., Abuelo, D., & Passero, M. T. U. (1999). Attitudes toward cystic fibrosis carrier and prenatal testing and utilization of carrier testing among relatives of individuals with cystic fibrosis. Journal of Genetic Testing, 8, 17–36.Google Scholar
Lanie, A. D., Jayaratne, T. E., Sheldon, J. P., Kardia, S. L. R., Anderson, E. S., Feldbaum, M., et al. (2004). Exploring the public understanding of basic genetic concepts. Journal of Genetic Counseling, 13(4), 305–320.Google Scholar
Lea, D. H., Kaphingst, K. A., Bowen, D., Lipkus, I., & Hadley, D. W. (2011). Communicating genetic information and genetic risk: An emerging role for health educators. Public Health Genomics, 14(4–5), 279–289.CrossRefGoogle Scholar
Lerman, C., Biesecker, B., Berkendorf, J. L., Kerner, J., Gomez-Caminero, A., Hughes, C., et al. (1997). Controlled trial of pretest education approaches to enhance informed decision-making for BRCA1 gene testing. Journal of the National Cancer Institute, 89(2), 148–157.CrossRefGoogle ScholarPubMed
Lillie, S. E., Brewer, N. T., O’Neill, S. C., Morrill, E. F., Dees, E. C., Carey, L. A., et al. (2007). Retention and use of breast cancer recurrence risk information from genomic tests: The role of health literacy. Cancer Epidemiology, Biomarkers and Prevention, 16(2), 249–255.Google Scholar
Lipkus, I. M., & Peters, E. (2009). Understanding the role of numeracy in health: Proposed theoretical framework and practical insights. Health Education and Behavior, 36(6), 1065–1081.Google Scholar
Manolio, T. A., Chisholm, R. L., Ozenberger, B., Roden, D. M., Williams, M. S., Wilson, R., et al. (2013). Implementing genomic medicine in the clinic: The future is here. Genetics in Medicine, 15(4), 258–267.Google Scholar
McBride, C. M., Bowen, D., Brody, L. C., Condit, C. M., Croyle, R. T., Gwinn, M., et al. (2010a). Future health applications of genomics: Priorities for communication, behavioral, and social sciences research. American Journal of Preventive Medicine, 38(5), 566–561.Google Scholar
McBride, C. M., Hensley-Alford, S., Reid, R. J., Larson, E. B., Baxevanis, A. D., & Brody, L. C. (2008). Putting science over supposition in the arena of personalized genomics. Nature Genetics, 40(8), 939–942.Google Scholar
McBride, C. M., Koehly, L. M., Sanderson, S. C., & Kaphingst, K. A. (2010b). The behavioral response to personalized genetic information: Will genetic risk profiles motivate individuals and families to choose more healthful behaviors? Annual Review of Public Health, 31, 89–103.Google Scholar
McInerney, J. (2002). Education in a genomic world. Journal of Medical Philosophy, 27, 369–390.Google Scholar
Meilleur, K. G., & Littleton-Kearney, M. T. (2009). Interventions to improve patient education regarding multifactorial genetic conditions: A systematic review. American Journal of Medical Genetics, 149A, 819–830.Google Scholar
Mesters, I., Ausems, A., & De Vries, H. (2005). General public’s knowledge, interest and information needs related to genetic cancer: An exploratory study. European Journal of Cancer Prevention, 14, 69–75.Google Scholar
Molster, C., Charles, T., Samanek, A., & O’Leary, P. (2009). Australian study on public knowledge of human genetics and health. Community Genetics, 12(2), 84–91.Google Scholar
National Center for Education Statistics. (2006). National Assessment of Adult Literacy (NAAL): A first look at the literacy of America’s adults in the 21st century. Washington, DC: National Center for Education Statistics.Google Scholar
Nielsen-Bohlman, L., Panzer, A. M., Kindig, D. A., eds. (2004). Health literacy: A prescription to end confusion. Washington, DC: National Academies Press.Google Scholar
Parrott, R., Silk, K., Krieger, J. R., Harris, T., & Condit, C. (2004). Behavioral health outcomes associated with religious faith and media exposure about human genetics. Health Communication, 16(1), 29–45.Google Scholar
Parrott, R. L., Silk, K. J., & Condit, C. (2003). Diversity in lay perceptions of the sources of human traits: Genes, environments, and personal behaviors. Social Science and Medicine, 56, 1099–1109.Google Scholar
Pearson, Y. E., & Liu-Thompkins, Y. (2012). Consuming direct-to-consumer genetic tests: The role of genetic literacy and knowledge calibration. Journal of Public Policy and Marketing, 31(1), 42–57.Google Scholar
Peters, E., Hart, P. S., & Fraenkel, L. (2011). Informing patients: The influence of numeracy, framing, and format of side effect information on risk perceptions. Medical Decision Making, 31(3), 432–436.CrossRefGoogle Scholar
Portnoy, D. B., Roter, D., & Erby, L. H. (2010). The role of numeracy on client knowledge in BRCA genetic counseling. Patient Education and Counseling, 81(1), 131–136.Google Scholar
Quinn, H., Schweingruber, H., Keller, T., eds. (2012). A framework for K-12 science education: Practices, crosscutting concepts, and core ideas. Washington, DC: Committee on Conceptual Framework for the New K-12 Science Education Standards; Board on Science Education; Division of Behavioral and Social Sciences and Education; National Research Council.Google Scholar
Richards, M., & Ponder, M. (1996). Lay understanding of genetics: A test of a hypothesis. Journal of Medical Genetics, 33, 1032–1036.Google Scholar
Rolison, J. J., Hanoch, Y., & Miron-Shatz, T. (2012). What do men understand about lifetime risk following genetic testing? The effect of context and numeracy. Health Psychology, 31(4), 530–533.Google Scholar
Rose, A., Peters, N., Shea, J. A., & Armstrong, K. (2005). The association between knowledge and attitudes about genetic testing for cancer risk in the United States. Journal of Health Communication, 10, 309–321.Google Scholar
Roter, D. L., Erby, L. H., Larson, S., & Ellington, L. (2007). Assessing oral literacy demand in genetic counseling dialogue: Preliminary test of a conceptual framework. Social Science and Medicine, 65(7), 1442–1457.Google Scholar
Sapp, J. C., Dong, D., Ivey, L. E., Hooker, G., Biesecker, L. G., & Biesecker, B. B. (2014). Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children. Clinical Genetics, 85(2), 120–126.Google Scholar
Smerecnik, C. M., Mesters, I., de Vries, N. K., & de Vries, H. (2008). Educating the general public about multifactorial genetic disease: Applying a theory-based framework to understand current public knowledge. Genetics in Medicine, 10(4), 251–258.Google Scholar
Syurina, E. V., Brankovic, I., Probst-Hensch, N., & Brand, A. (2011). Genome-based health literacy: A new challenge for public health genomics. Public Health Genomics, 14, 201–210.CrossRefGoogle ScholarPubMed
Tercyak, K. P., Alford, S. H., Emmons, K. M., Lipkus, I. M., Wilfond, B., & McBride, C. M. (2011). Parents’ attitudes toward pediatric genetic testing for common disease risk. Pediatrics, 127(5), e1288–1295.CrossRefGoogle ScholarPubMed
Thompson, H. S., Wahl, E., Fatone, A., Brown, K., Kwate, N. O. A., & Valdimarsdottir, H. (2004). Enhancing the readability of materials describing genetic risk for breast cancer. Cancer Control, 11(4), 245–253.Google Scholar
Vassy, J. L., O’Brien, K. E., Waxler, J. L., Park, E. R., Delahanty, L. M., Florez, J. C., et al. (2012). Impact of literacy and numeracy on motivation for behavior change after diabetes genetic risk testing. Medical Decision Making, 32, 606–615.Google Scholar
Wang, C., Bowen, D. J., & Kardia, S. L. R. (2005). Research and practice opportunities at the intersection of health education, health behavior, and genomics. Health Education & Behavior, 32, 686–701.CrossRefGoogle ScholarPubMed
Wang, C., Gallo, R. E., Fleisher, L., & Miller, S. M. (2011). Literacy assessment of family health history tools for public health prevention. Public Health Genomics, 14(4–5), 222–237.Google Scholar
Wilfond, B., & Friedman Ross, L. (2009). From genetics to genomics: Ethics, policy, and parental decision-making. Journal of Pediatric Psychology, 34(6), 639–647.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×