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Journal of Genetic Counseling

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01.08.2010 | Original Research

Considerations for the Impact of Personal Genome Information: A Study of Genomic Profiling among Genetics and Genomics Professionals

verfasst von: Julianne M. O’Daniel, Susanne B. Haga, Huntington F. Willard

Erschienen in: Journal of Genetic Counseling | Ausgabe 4/2010

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Abstract

With the expansion of genomic-based clinical applications, it is important to consider the potential impact of this information particularly in terms of how it may be interpreted and applied to personal perceptions of health. As an initial step to exploring this question, we conducted a study to gain insight into potential psychosocial and health motivations for, as well as impact associated with, undergoing testing and disclosure of individual “variomes” (catalogue of genetic variations). To enable the collection of fully informed opinions, 14 participants with advanced training in genetics underwent whole-genome profiling and received individual reports of estimated genomic ancestry, genotype data and reported disease associations. Emotional, cognitive and health behavioral impact was assessed through one-on-one interviews and questionnaires administered pre-testing and 1-week and 3-months post-testing. Notwithstanding the educational and professional bias of our study population, the results identify several areas of research for consideration within additional populations. With the development of new and less costly approaches to genome risk profiling, now available for purchase direct-to-consumers, it is essential that genome science research be conducted in parallel with studies assessing the societal and policy implications of genome information for personal use.

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Antill, Y. C., Reynolds, J., Young, M. A., Kirk, J. A., Tucker, K. M., Bogtstra, T. L., et al. (2006). Screening behavior in women at increased familial risk for breast cancer. Familial Cancer, 5(4), 359–368.CrossRefPubMed

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

Baker, M. (2008). Genome studies: genetics by numbers. Nature, 451(7178), 516–518.CrossRefPubMed

Bienstock, C. C., & Stafford, M. R. (Writer) (2006). Measuring involvement with the service: a further investigation of scale validity and dimensionality [Article]. Journal of Marketing Theory & Practice: M.E. Sharpe Inc.

Cameron, L. D., & Diefenbach, M. A. (2001). Responses to information about psychosocial consequences of genetic testing for breast cancer susceptibility: influences of cancer worry and risk perceptions: unions and migrant youth in Thailand. Journal of Health Psychology, 6(1), 47–59.CrossRef

Cameron, L. D., & Reeve, J. (2006). Risk perceptions, worry, and attitudes about genetic testing for breast cancer susceptibility. Psychology & Health, 21(2), 211–230.CrossRef

Case, D. O., Andrews, J. E., Johnson, J. D., & Allard, S. L. (2005). Avoiding versus seeking: the relationship of information seeking to avoidance, blunting, coping, dissonance, and related concepts. Journal of the Medical Library Association, 93(3), 353–362.PubMed

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(3), 161–172.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.CrossRefPubMed

Chao, S., Roberts, J. S., Marteau, T. M., Silliman, R., Cupples, L. A., & Green, R. C. (2008). Health behavior changes after genetic risk assessment for Alzheimer disease: The REVEAL Study. Alzheimer Disease and Associated Disorders, 22(1), 94–97.CrossRefPubMed

Christman, M. F. (2008). The Coriell Personalized Medicine Collaborative: Examining the Utility of Genome-Informed Medicine. Retrieved January 2009. from http://www.coriell.org/images/pdf/cpmc_white_paper_010908.pdf.

Church, G. M. (2005). The personal genome project. Molecular Systems Biology, 1, 2005 0030.

Collins, V., Meiser, B., Gaff, C., John, D. J. B. S., & Halliday, J. (2005). Screening and preventive behaviors one year after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma. Cancer, 104(2), 273–281.CrossRefPubMed

Cutcliffe, J. R., & McKenna, H. P. (2002). When do we know that we know? Considering the truth of research findings and the craft of qualitative research. International Journal of Nursing Studies, 39(6), 611–618.CrossRefPubMed

Cypowyj, C., Eisinger, F., Morin, M., Mogoutov, A., Sobol, H., & Julian-Reynier, C. (2003). Information-seeking behavior and psycho-social interactions during the genetic testing process. Community Genetics, 6, 224–234.CrossRefPubMed

Daetwyler, H. D., Villanueva, B., & Woolliams, J. A. (2008). Accuracy of predicting the genetic risk of disease using a genome-wide approach. PLoS ONE, 3(10), e3395.CrossRefPubMed

DiLorenzo, T., Schnur, J., Montgomery, G. H., Erblich, J., Winkel, G., & Bovbjerg, D. H. (2006). A model of disease-specific worry in heritable disease: the influence of family history, perceived risk, and worry about other illnesses. Journal of Behavioral Medicine, 29(1), 37–49.CrossRefPubMed

Erblich, J., Bovbjerg, D. H., Norman, C. D., Valdimarsdottir, H., & Montgomery, G. H. (2000). It won’t happen to me: lower perception of heart disease risk among women with family histories of breast cancer. Preventive Medicine, 31, 714–721.CrossRefPubMed

Fanshawe, T. R., Prevost, A. T., Roberts, J. S., Green, R. C., Armstrong, D., & Marteau, T. M. (2008). Explaining behavior change after genetic testing: the problem of collinearity between test results and risk estimates. Genetic Testing, 12(3), 381–386.CrossRefPubMed

Foster, M. W., Mulvihill, J. J., & Sharp, R. R. (2009). Evaluating the utility of personal genomic information. Genetics in Medicine, 11(8), 570–574.CrossRefPubMed

Foxall, G. R., & Bhate, S. (1993). Cognitive style and personal involvement as explicators of innovative purchasing of healthy food brands. European Journal of Marketing, 27(2), 5–16.CrossRef

Frijling, B. D., Lobo, C. M., Keus, I. M., Jenks, K. M., Akkermans, R. P., Hulscher, M. E., et al. (2004). Perceptions of cardiovascular risk among patients with hypertension or diabetes. Patient Education and Counseling, 52, 47–53.CrossRefPubMed

Frosch, D. L., Mello, P., & Lerman, C. (2005). Behavioral consequences of testing for obesity risk. Cancer Epidemiology, Biomarkers and Prevention, 14(6), 1485–1489.CrossRefPubMed

Gaff, C. L., Clarke, A. J., Atkinson, P., Sivell, S., Elwyn, G., Iredale, R., et al. (2007). Process and outcome in communication of genetic information within families: a systematic review. European Journal of Human Genetics, 15(10), 999–1011.CrossRefPubMed

Goddard, K. A. B., Duquette, D., Zlot, A., Johnson, J., Annis-Emeott, A., Lee, P. W., et al. (2009). Public awareness and use of direct-to-consumer genetic tests: results from 3 State Population-Based Surveys, 2006. American Journal of Public Health, 99(3), 442–445.CrossRefPubMed

Grosse, S. D., & Khoury, M. J. (2006). What is the clinical utility of genetic testing? Genetics in Medicine, 8(7), 448–450.CrossRefPubMed

Grosse, S. D., McBride, C. M., Evans, J. P., & Khoury, M. J. (2009). Personal utility and genomic information: look before you leap. Genetics in Medicine, 11(8), 575–576.CrossRefPubMed

Haga, S. B., & Willard, H. F. (2008). Letting the genome out of the bottle. New England Journal of Medicine, 358(20), 2184; author reply 2185.

Hariri, S., Yoon, P. W., Qureshi, N., Valdez, R., Scheuner, M. T., & Khoury, M. J. (2006). Family history of type 2 diabetes: a population-based screening tool for prevention? Genetics in Medicine, 8(2), 102–108.CrossRefPubMed

Hunter, D. J., Khoury, M. J., & Drazen, J. M. (2008). Letting the genome out of the bottle–will we get our wish? The New England Journal of Medicine, 358(2), 105–107.CrossRefPubMed

Ioannidis, J. P. A. (2009). Personalized genetic prediction: too limited, too expensive, or too soon? Annals of Internal Medicine, 150(2), 139–141.PubMed

Jallinoja, P., & Aro, A. R. (2000). Does knowledge make a difference? The association between knowledge about genes and attitudes toward gene tests. Journal of Health Communication, 5(1), 29–39.CrossRefPubMed

Kaptein, A. A., van Korlaar, I. M., Cameron, L. D., Vossen, C. Y., van der Meer, F. J., & Rosendaal, F. R. (2007). Using the common-sense model to predict risk perception and disease-related worry in individuals at increased risk for venous thrombosis. Health Psychology, 26(6), 807–812.CrossRefPubMed

Khoury, M. J., Gwinn, M., Yoon, P. W., Dowling, N., Moore, C. A., & Bradley, L. (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(10), 665–674.CrossRefPubMed

Khoury, M. J., McBride, C. M., Schully, S. D., Ioannidis, J. P., Feero, W. G., Janssens, A. C., et al. (2009). The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genetics in Medicine, 11(8), 559–567.CrossRefPubMed

Kraft, P., Wacholder, S., Cornelis, M. C., Hu, F. B., Hayes, R. B., Thomas, G., et al. (2009). Beyond odds ratios–communicating disease risk based on genetic profiles. Nature Reviews Genetics, 10(4), 264–269.CrossRefPubMed

Laegsgaard, M. M., & Mors, O. (2008). Psychiatric genetic testing: attitudes and intentions among future users and providers. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 147B(3), 375–384.CrossRef

Lambert, S. D., & Loiselle, C. G. (2007). Health information seeking behavior. Qualitative Health Research, 17(8), 1006–1019.CrossRefPubMed

Makeeva, O. A., Markova, V. V., & Puzyrev, V. P. (2009). Public interest and expectations concerning commercial genotyping and genetic risk assessment. Personalized Medicine, 6(3), 329–341.CrossRef

Marteau, T. M., & Lerman, C. (2001). Genetic risk and behavioural change. BMJ, 322(7293), 1056–1059.CrossRefPubMed

Marteau, T. M., & Weinman, J. (2006). Self-regulation and the behavioural response to DNA risk information: a theoretical analysis and framework for future research. Social Science and Medicine, 62(6), 1360–1368.CrossRefPubMed

McBride, C. M., Bepler, G., Lipkus, I. M., Lyna, P., Samsa, G., Albright, J., et al. (2002). Incorporating genetic susceptibility feedback into a smoking cessation program for African–American smokers with low income. Cancer Epidemiology, Biomarkers and Prevention, 11(6), 521–528.PubMed

McBride, C. M., Alford, S. H., 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.CrossRefPubMed

McBride, C. M., Alford, S. H., Reid, R. J., Larson, E. B., Baxevanis, A. D., & Brody, L. C. (2009). Characteristics of users of online personalized genomic risk assessments: implications for physician-patient interactions. Genetics in Medicine, Publish Ahead of Print. doi:10.1097/GIM.1090b1013e3181b1022c1093a.

McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P., et al. (2008). Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nature Reviews Genetics, 9(5), 356–369.CrossRefPubMed

Meiser, B., Dunn, S., Dixon, J., & Powell, L. W. (2005). Psychological adjustment and knowledge about hereditary hemochromatosis in a clinic-based sample: a prospective study. Journal of Genetic Counseling, 14(6), 453–463.CrossRefPubMed

Morin, K. (2009). Knowledge and attitudes of Canadian consumers and health care professionals regarding nutritional genomics. OMICS, 13(1), 37–41.CrossRefPubMed

Moss-Morris, R., & Petrie, K. J. (1997). Cognitive distortions of somatic experiences: revision and validation of a measure. Journal of Psychosomatic Research, 43(3), 293–306.CrossRefPubMed

National Human Genome Research Institute (2007). A Guide to Your Genome. from http://www.genome.gov/Pages/Education/AllAbouttheHumanGenomeProject/GuidetoYourGenome07.pdf.

Ng, P. C., Murray, S. S., Levy, S., & Venter, J. C. (2009). An agenda for personalized medicine. Nature, 461(7265), 724–726.CrossRefPubMed

O’Daniel, J. M., & McConkie-Rosell, A. (2006). Test results: Comprehension, communication, and counseling. In N. F. Sharpe & R. F. Carter (Eds.), Genetic testing: Care, consent, and liability (pp. 355–382). Hoboken: Wiley Publishing, Inc.

O’Neill, S. C., Kaufman, E., DeMarco, T., Peshkin, B. N., McKenna, K., Shelby, R., et al. (2008). Changes in diet and physical activity following BRCA1/2 testing. Journal of Psychosocial Oncology, 26(3), 63–80.CrossRefPubMed

Peshkin, B. N., Schwartz, M. D., Isaacs, C., Hughes, C., Main, D., & Lerman, C. (2002). Utilization of breast cancer screening in a clinically based sample of women after BRCA1/2 testing. Cancer Epidemiology, Biomarkers and Prevention, 11(10 Pt 1), 1115–1118.PubMed

Phillips, K. A., Jenkins, M. A., Lindeman, G. J., McLachlan, S. A., McKinley, J. M., Weideman, P. C., et al. (2006). Risk-reducing surgery, screening and chemoprevention practices of BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Clinical Genetics, 70(3), 198–206.CrossRefPubMed

Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006). Principal components analysis corrects for stratification in genome-wide association studies. Nature Genetics, 38(8), 904–909.CrossRefPubMed

Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A., Bender, D., et al. (2007). PLINK: a tool set for whole-genome association and population-based linkage analyses. American Journal of Human Genetics, 81(3), 559–575.CrossRefPubMed

Ramanadhan, S., & Viswanath, K. (2006). Health and the information nonseeker: a profile. Health Communication, 20(2), 131–139.CrossRefPubMed

Rees, G., Fry, A., Cull, A., & Sutton, S. (2004). Illness perceptions and distress in women at increased risk of breast cancer. Psychology & Health, 19(6), 749–765.CrossRef

Reid, J. S., Toncar, M. F., & Anderson, C. E. (2007). Use of personal involvement inventory to measure demographic differences in reactions to alcohol and drug abuse treatment services. International Journal of Business Research, 7(2), 84–99.

Rosenberg, N. A., Pritchard, J. K., Weber, J. L., Cann, H. M., Kidd, K. K., Zhivotovsky, L. A., et al. (2002). Genetic structure of human populations. Science, 298(5602), 2381–2385.CrossRefPubMed

Rutten, L. J., Squiers, L., & Hesse, B. (2006). Cancer-related information seeking: hints from the 2003 Health Information National Trends Survey (HINTS). Journal of Health Communication, 11(Suppl 1), 147–156.CrossRefPubMed

Saito, T., Nanri, S., & Saito, I. (2009). Reliability of family history of lifestyle-related diseases on questionnaire. Pediatrics International, 51(4), 514–519.CrossRefPubMed

Sanderson, S. C., Wardle, J., Jarvis, M. J., & Humphries, S. E. (2004). Public interest in genetic testing for susceptibility to heart disease and cancer: a population-based survey in the UK. Preventive Medicine, 39(3), 458–464.CrossRefPubMed

Sanderson, S. C., O’Neill, S. C., White, D. B., Bepler, G., Bastian, L., Lipkus, I. M., et al. (2009). Responses to online GSTM1 genetic test results among smokers related to patients with lung cancer: a pilot study. Cancer Epidemiology, Biomarkers and Prevention, 18(7), 1953–1961.CrossRef

Sanderson, S. C., O’Neill, S. C., Bastian, L., Bepler, G., & McBride, C. M. (2010). What can interest tell us about uptake of genetic testing? Intention and behavior amongst smokers related to patients with lung cancer. Public Health Genomics, 13(2), 116–124.

Schneider, K. A., DiGianni, L. M., Patenaude, A. F., Klar, N., Stopfer, J. E., Calzone, K. A., et al. (2004). Accuracy of cancer family histories: comparison of two breast cancer syndromes. Genetic Testing, 8(3), 222–228.CrossRefPubMed

Sivell, S., Elwyn, G., Gaff, C. L., Clark, A. J., Iredale, R., Shaw, C., et al. (2008). How risk is perceived, constructed and interpreted by clients in clinical genetics, and the effects on decision making: systematic review. Journal of Genetic Counseling, 17, 30–63.CrossRefPubMed

Smerecnik, C. M., Mesters, I., van Keulen, H., Scheffers, I., Beeks, E., De Leeuw, P. W., et al. (2007). Should individuals be informed about their salt sensitivity status? First indications of the value of testing for genetic predisposition to low-risk conditions. Genetic Testing, 11(3), 307–314.CrossRefPubMed

Stern, R. A., Chung, W. W., Chen, C. A., Cupples, L. A., Roberts, J. S., Hiraki, S. C., et al. (2008). Development of a new scale measuring psychological impact of genetic susceptibility testing for Alzheimer’s disease. Alzheimer’s and Dementia, 4(4s1), T442.CrossRef

Toiviainen, H., Jallinoja, P., Aro, A. R., & Hemminki, E. (2003). Medical and lay attitudes towards genetic screening and testing in Finland. European Journal of Human Genetics, 11(8), 565–572.CrossRefPubMed

Tuckett, A. G. (2004). Qualitative research sampling: the very real complexities. Nurse Researcher, 12(1), 47–61.PubMed

Walter, F. M., Emery, J., Braithwaite, D., & Marteau, T. M. (2004). Lay understanding of familial risk of common chronic diseases: a systematic review and synthesis of qualitative research. Annals of Family Medicine, 2(6), 583–594.CrossRefPubMed

Weinstein, N. D. (1982). Unrealistic optimism about susceptibility to health problems. Journal of Behavioral Medicine, 5(4), 441–460.CrossRefPubMed

Weinstein, N. D. (1984). Why it won’t happen to me: perceptions of risk factors and susceptibility. Health Psychology, 3(5), 431–457.CrossRefPubMed

Weinstein, N. D. (1987). Unrealistic optimism about susceptibility to health problems: conclusions from a community-wide sample. Journal of Behavioral Medicine, 10(5), 481–500.CrossRefPubMed

Wellcome Trust Case Control, C. (2007). Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls. Nature, 447(7145), 661–678.CrossRef

Wilson, B. J., Forrest, K., van Teijlingen, E. R., McKee, L., Haites, N., Matthews, E., et al. (2004). Family communication about genetic risk: the little that is known. Community Genetics, 7(1), 15–24.CrossRefPubMed

Zaichkowsky, J. L. (1985). Measuring the involvement construct. Journal of Consumer Research, 12(3), 341–352.CrossRef

Zaichkowsky, J. L. (1994). The personal involvement inventory: reduction, revision, and application to advertising. (Illustration)(Statistical Data Included). Journal of Advertising, 23(4), 59.

Titel: Considerations for the Impact of Personal Genome Information: A Study of Genomic Profiling among Genetics and Genomics Professionals
verfasst von: Julianne M. O’Daniel
Susanne B. Haga
Huntington F. Willard
Publikationsdatum: 01.08.2010
Verlag: Springer US
Erschienen in: Journal of Genetic Counseling / Ausgabe 4/2010
Print ISSN: 1059-7700
Elektronische ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-010-9297-x

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