Abstract
The use of predictive genomic information to improve medical care remains a contentious topic. However, it is generally agreed that the potential of genomics to improve medicine relies on medical care providers’ ability to effectively communicate and put in context the meaning of test results. As the amount of information available increasingly outstrips providers’ ability to offer qualified judgments on what the information means, consumers inevitably will be faced with test results of uncertain significance, as well as difficult questions about what they do or do not wish to know. Results of this survey of 64 primary care doctors in Estonia suggests that it may be inherently difficult for physicians to withhold genetic information obtained by genome scans or sequencing, even when they believe that having that information is not in the best interests of their patient. The descriptive data suggest introducing genomic medicine through primary care physicians, as proposed by the Estonian Genome Center of the University of Tartu, will require further genetics education as well as a carefully developed set of guidelines for determining where, when and how to use test results.
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References
Altshuler, D., Daly, M. J., & Lander, E. S. (2008). Genetic mapping in human disease. Science, 322(5903), 881–888.
Bloss, C. S., Ornowski, L., Silver, E., Cargill, M., Vanier, V., Schork, N. J., et al. (2010). Consumer perceptions of direct-to-consumer personalized genomic risk assessments. Genetics in Medicine, 12(9), 556–566.
Burke, W., Acheson, L., Botkin, J., Bridges, K., Davis, A., Evans, J., et al. (2002). Genetics in primary care: a USA faculty development initiative. Community Genetics, 5(2), 138–146.
Burke, W., Zimmern, R. L., & Kroese, M. (2007). Defining purpose: a key step in genetic test evaluation. Genetics in Medicine, 9(10), 675–681.
Button, K. P. (2008). Development of a Genetic Education Series for Non-Genetics Health Professionals. Bronxville: Sarah Lawrence College.
Campell, C. D. (2003). Training Physicians for the 21st Century: A Collaboration Between Genetic Counselors and Physicians. Bronxville: Sarah Lawrence College.
COE. (2010). Council of Europe, Recommendation CM/Rec(2010)11 of the Committee of Ministers to member states on the impact of genetics on the organisation of health care services and training of health professionals (Vol. 2010).
EPSU. (2010). European Federation of Public Service Unions. Estonia: Health Care Reforms. 2010, from http://www.epsu.org/a/2242
Feero, W. G., Guttmacher, A. E., & Collins, F. S. (2008). The genome gets personal–almost. Journal of the American Medical Association, 299(11), 1351–1352.
Goldacre, M., Kurina, L., Yeates, D., Seagroatt, V., & Gill, L. (2000). Use of large medical databases to study associations between diseases. QJM, 93(10), 669–675.
Hardy, J., & Singleton, A. (2009). Genomewide association studies and human disease. The New England Journal of Medicine, 360(17), 1759–1768.
Harris, J., & Keywood, K. (2001). Ignorance, information and autonomy. Theoretical Medicine and Bioethics, 22(5), 415–436.
HGRA. (2000). Human Genes Research Act. from http://www.geenivaramu.ee/index.php?langeng&sub18&eetika1
Janssens, A. C., & van Duijn, C. M. (2009). Genome-based prediction of common diseases: methodological considerations for future research. Genome Med, 1(2), 20.
Kiray Vural, B., Tomatir, A. G., Kuzu Kurban, N., & Taspinar, A. (2009). Nursing students’ self-reported knowledge of genetics and genetic education. Public Health Genomics, 12(4), 225–232.
Leitsalu, L. (2010). Counseling for Complex Diseases: Incorporating Predictive Genetic Testing into the National Health Care System of Estonia. Bronxville: Sarah Lawrence College.
Mahajan, P., Meyer, K. S., Wall, G. C., & Price, H. J. (2010). Clinical applications of pharmacogenomics guided warfarin dosing. Pharm World Sci.
Manolio, T. A., Brooks, L. D., & Collins, F. S. (2008). A HapMap harvest of insight into the genetics of common disease. Journal of Clinical Investigation, 118, 1590–1605.
Maradiegue, A., Edwards, Q. T., Seibert, D., Macri, C., & Sitzer, L. (2005). Knowledge, perceptions, and attitudes of advanced practice nursing students regarding medical genetics. Journal of the American Academy of Nurse Practitioners, 17(11), 472–479.
Metspalu, A. (2009). The Estonian Genome Project of University of Tartu. Paper presented at the Biobanking Workshop
Metspalu, A., Kohler, F., Laschinski, G., Ganten, D., & Roots, I. (2004). The Estonian Genome Project in the context of European genome research. Deutsche Medizinische Wochenschrift, 129(Suppl 1), S25–28.
Mihaescu, R., van Hoek, M., Sijbrands, E. J., Uitterlinden, A. G., Witteman, J. C., Hofman, A., et al. (2009). Evaluation of risk prediction updates from commercial genome-wide scans. Genetics in Medicine, 11(8), 588–594.
NHGRI. (2009). National Human Genome Research Institute. Retrieved November, 2009, from http://www.genome.gov/10001772
Ormond, K. E., Wheeler, M. T., Hudgins, L., Klein, T. E., Butte, A. J., Altman, R. B., et al. (2010). Challenges in the clinical application of whole-genome sequencing. Lancet, 375(9727), 1749–1751.
PHGEN. (2010). Public Health Genomics European Network. Retrieved February, 2010, from http://phgen.eu/typo3/index.php
Powell, K. P., Hasegawa, L., & McWalter, K. (2010). Expanding roles: a survey of public health genetic counselors. Journal of Genetic Counseling, 19(6), 593–605.
Pruthi, S., Gostout, B. S., & Lindor, N. M. (2010). Identification and Management of Women With BRCA Mutations or Hereditary Predisposition for Breast and Ovarian Cancer. Mayo Clinic Proceedings, 85(12), 1111–1120.
Reimand, T., Õunap, K., Zordania, R., Ilus, T., Uibo, O., Sitska, M., & Talvik, T. (2006). Descriptive epidemiology of Down’s syndrome in Estonia. Paed Peri Epidem, 20, 512–519.
SACGHS. (1999–2000). A Public Consultation on Oversight of Genetic Tests (1999–2000). from http://oba.od.nih.gov/SACGHS/sacgt_documents.html
Savage, S. K. (2007). Predictive Genetic Testing in Minors: Difficult Decisions for Complex Cases. Bronxville: Sarah Lawrence College.
Scheuner, M. T., Sieverding, P., & Shekelle, P. G. (2008). Delivery of genomic medicine for common chronic adult diseases: a systematic review. Journal of the American Medical Association, 299(11), 1320–1334.
Steinmark, L. (2009). U.S. Primary Care Providers’ Continuing Genetics Education Needs: A Survey and Literature Review. Bronxville: Sarah Lawrence College.
Takala, T. (2001). Genetic ignorance and reasonable paternalism. Theoretical Medicine and Bioethics, 22(5), 485–491.
Welkenhuysen, M., & Evers-Kiebooms, G. (2002). General practitioners and predictive genetic testing for late-onset diseases in Flanders: what are their opinions and do they want to be involved? Community Genetics, 5(2), 128–137.
Wilson, J. (2005). To know or not to know? Genetic ignorance, autonomy and paternalism. Bioethics, 19(5–6), 492–504.
WHO. (2001). European Observatory on Health Care Systems, Health Care Systems in Transition, Estonia. [Electronic Version]. Brussels: European Commission and the WHO, 7, from www.euro.who.int/document/e85516.pdf]
Acknowledgements
This work was supported by OpenGENE project, the Estonian Ministry of Social Affairs (12.2-3/3919) and the Estonian Ministry of Science and Education (10.1–8.1/19), targeted financing from the Estonian Government (SF0180142s08 and SF0180026s09), and by the European Union through the European Regional Development Fund to the Estonian Centre of Excellence in Genomics.
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Appendix
Survey of Estonian Primary Care Physicians
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Leitsalu, L., Hercher, L. & Metspalu, A. Giving and Withholding of Information following Genomic Screening: Challenges Identified in a Study of Primary Care Physicians in Estonia. J Genet Counsel 21, 591–604 (2012). https://doi.org/10.1007/s10897-011-9424-3
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DOI: https://doi.org/10.1007/s10897-011-9424-3