Journal of Genetic Counseling

, Volume 21, Issue 4, pp 591–604 | Cite as

Giving and Withholding of Information following Genomic Screening: Challenges Identified in a Study of Primary Care Physicians in Estonia

  • Liis LeitsaluEmail author
  • Laura Hercher
  • Andres Metspalu
Original Research


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.


Predictive genetic testing Primary care physicians Genomic information Genomic healthcare 



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.

Disclosure of interests

The authors declare no conflict of interests.


  1. Altshuler, D., Daly, M. J., & Lander, E. S. (2008). Genetic mapping in human disease. Science, 322(5903), 881–888.PubMedCrossRefGoogle Scholar
  2. 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.PubMedCrossRefGoogle Scholar
  3. 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.PubMedCrossRefGoogle Scholar
  4. Burke, W., Zimmern, R. L., & Kroese, M. (2007). Defining purpose: a key step in genetic test evaluation. Genetics in Medicine, 9(10), 675–681.PubMedCrossRefGoogle Scholar
  5. Button, K. P. (2008). Development of a Genetic Education Series for Non-Genetics Health Professionals. Bronxville: Sarah Lawrence College.Google Scholar
  6. Campell, C. D. (2003). Training Physicians for the 21st Century: A Collaboration Between Genetic Counselors and Physicians. Bronxville: Sarah Lawrence College.Google Scholar
  7. 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).Google Scholar
  8. EPSU. (2010). European Federation of Public Service Unions. Estonia: Health Care Reforms. 2010, from
  9. 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.PubMedCrossRefGoogle Scholar
  10. 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.PubMedCrossRefGoogle Scholar
  11. Hardy, J., & Singleton, A. (2009). Genomewide association studies and human disease. The New England Journal of Medicine, 360(17), 1759–1768.PubMedCrossRefGoogle Scholar
  12. Harris, J., & Keywood, K. (2001). Ignorance, information and autonomy. Theoretical Medicine and Bioethics, 22(5), 415–436.PubMedCrossRefGoogle Scholar
  13. HGRA. (2000). Human Genes Research Act. from
  14. Janssens, A. C., & van Duijn, C. M. (2009). Genome-based prediction of common diseases: methodological considerations for future research. Genome Med, 1(2), 20.PubMedCrossRefGoogle Scholar
  15. 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.PubMedCrossRefGoogle Scholar
  16. Leitsalu, L. (2010). Counseling for Complex Diseases: Incorporating Predictive Genetic Testing into the National Health Care System of Estonia. Bronxville: Sarah Lawrence College.Google Scholar
  17. Mahajan, P., Meyer, K. S., Wall, G. C., & Price, H. J. (2010). Clinical applications of pharmacogenomics guided warfarin dosing. Pharm World Sci.Google Scholar
  18. 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.PubMedCrossRefGoogle Scholar
  19. 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.PubMedCrossRefGoogle Scholar
  20. Metspalu, A. (2009). The Estonian Genome Project of University of Tartu. Paper presented at the Biobanking WorkshopGoogle Scholar
  21. 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.PubMedGoogle Scholar
  22. 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.PubMedCrossRefGoogle Scholar
  23. NHGRI. (2009). National Human Genome Research Institute. Retrieved November, 2009, from
  24. 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.PubMedCrossRefGoogle Scholar
  25. PHGEN. (2010). Public Health Genomics European Network. Retrieved February, 2010, from
  26. 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.PubMedCrossRefGoogle Scholar
  27. 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.PubMedCrossRefGoogle Scholar
  28. 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.CrossRefGoogle Scholar
  29. SACGHS. (1999–2000). A Public Consultation on Oversight of Genetic Tests (1999–2000). from
  30. Savage, S. K. (2007). Predictive Genetic Testing in Minors: Difficult Decisions for Complex Cases. Bronxville: Sarah Lawrence College.Google Scholar
  31. 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.PubMedCrossRefGoogle Scholar
  32. Steinmark, L. (2009). U.S. Primary Care Providers’ Continuing Genetics Education Needs: A Survey and Literature Review. Bronxville: Sarah Lawrence College.Google Scholar
  33. Takala, T. (2001). Genetic ignorance and reasonable paternalism. Theoretical Medicine and Bioethics, 22(5), 485–491.PubMedCrossRefGoogle Scholar
  34. 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.PubMedCrossRefGoogle Scholar
  35. Wilson, J. (2005). To know or not to know? Genetic ignorance, autonomy and paternalism. Bioethics, 19(5–6), 492–504.Google Scholar
  36. WHO. (2001). European Observatory on Health Care Systems, Health Care Systems in Transition, Estonia. [Electronic Version]. Brussels: European Commission and the WHO, 7, from]

Copyright information

© National Society of Genetic Counselors, Inc. 2011

Authors and Affiliations

  • Liis Leitsalu
    • 1
    Email author
  • Laura Hercher
    • 2
  • Andres Metspalu
    • 1
    • 3
    • 4
  1. 1.Estonian Genome CenterUniversity of TartuTartuEstonia
  2. 2.Sarah Lawrence College Joan H. Marks Human Genetics ProgramBronxvilleUSA
  3. 3.Institute of Molecular and Cell BiologyUniversity of TartuTartuEstonia
  4. 4.Estonian BiocentreTartuEstonia

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