Journal of Genetic Counseling

, Volume 21, Issue 5, pp 684–691 | Cite as

Genetic Counseling as a Tool for Type 2 Diabetes Prevention: A Genetic Counseling Framework for Common Polygenetic Disorders

  • Jessica L. Waxler
  • Kelsey E. O’Brien
  • Linda M. Delahanty
  • James B. Meigs
  • Jose C. Florez
  • Elyse R. Park
  • Barbara R. Pober
  • Richard W. Grant
Original Research

Abstract

Advances in genetic epidemiology have increased understanding of common, polygenic preventable diseases such as type 2 diabetes. As genetic risk testing based on this knowledge moves into clinical practice, we propose that genetic counselors will need to expand their roles and adapt traditional counseling techniques for this new patient set. In this paper, we present a genetic counseling intervention developed for a clinical trial [Genetic Counseling/Lifestyle Change for Diabetes Prevention, ClinicalTrials.gov identifier: NCT01034319] designed to motivate behavioral changes for diabetes prevention. Seventy-two phenotypically high-risk participants received counseling that included their diabetes genetic risk score, general education about diabetes risk factors, and encouragement to participate in a diabetes prevention program. Using two validated genetic counseling scales, participants reported favorable perceived control and satisfaction with the counseling session. Our intervention represents one model for applying traditional genetic counseling principles to risk testing for polygenetic, preventable diseases, such as type 2 diabetes.

Keywords

Genetic counseling Type 2 diabetes Polygenic risk counseling Diabetes prevention 

References

  1. Austin, J. (2010). Reconceptualizing risk in genetic counseling: Implications for clinical practice. The Journal of Genetic Counseling, 19(3), 228–234.CrossRefGoogle Scholar
  2. Baty, B., Venne, V., McDonald, J., Croyle, R., Halls, C., Nash, J., et al. (1997). BRCA1 testing: Genetic counseling protocol development and counseling issues. The Journal of Genetic Counseling, 6(2), 223–244.CrossRefGoogle Scholar
  3. Bennett, P., Wilkinson, C., Turner, J., Brain, K., Edwards, R. T., Griffith, G., et al. (2008). Psychological factors associated with emotional responses to receiving genetic risk information. Journal of Genetic Counseling, 17, 234–241.PubMedCrossRefGoogle Scholar
  4. Centers for Disease Control and Prevention. (2011). National diabetes fact sheet: National estimates and general information on diabetes and prediabetes in the United States, 2011. Atlanta Georgia: U.S. Department of Health and Human services, Centers for Disease Control and Prevention.Google Scholar
  5. Crandall, J. P., Knowler, W. C., Kahn, S. E., Marrero, D., Florez, J. C., Bray, G. A., et al. (2008). The prevention of type 2 diabetes. Nature Clinical Practice: Endocrine & Metabolism, 4(7), 382–393.CrossRefGoogle Scholar
  6. de Miguel-Yanes, J. M., Shrader, P., Pencina, M. J., Fox, C. S., Manning, A. K., Grant, R. W., et al. (2011). Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms. Diabetes Care, 34(1), 121–125.PubMedCrossRefGoogle Scholar
  7. DeMarco, T. A., Peshkin, B. N., Mars, B. D., & Tercyak, K. P. (2004). Patient satisfaction with cancer genetic counseling: a psychometric analysis of the genetic counseling satisfaction scale. Journal of Genetic Counseling, 13(4), 293–304.PubMedCrossRefGoogle Scholar
  8. Drake, E., Engler-Todd, L., O’Connor, A., Surh, L., & Hunter, A. (1999). Development and evaluation of a decision aid about prenatal testing for women of advanced maternal age. The Journal of Genetic Counseling, 8(4), 217–233.CrossRefGoogle Scholar
  9. Ford, E., Li, C., & Sattar, N. (2008). Metabolic syndrome and incident diabetes. Diabetes Care, 31(9), 1898–1904.PubMedCrossRefGoogle Scholar
  10. Foster, M. W., Mulvihill, J. J., & Sharp, R. R. (2008). Evaluating the utility of personal genomic information. Genetics in Medicine, 11(8), 570–574.CrossRefGoogle Scholar
  11. Gamm, J. L., Nussbaum, R. L., & Biesecker, B. B. (2004). Genetics and alcoholism among at-risk relatives I: Perceptions of cause, risk, and control. American Journal of Medical Genetics Part A, 128, 133–150.Google Scholar
  12. Grant, R. W., Hivert, M., Pandiscio, J. C., Florez, J. C., Nathan, D. M., & Meigs, J. B. (2009). The clinical application of genetic testing in type 2 diabetes: A patient and physician survey. Diabetologia, 52(11), 2299–2305.PubMedCrossRefGoogle Scholar
  13. Hallowell, N., Statham, H., Murton, F., Green, J., & Richards, M. (1997). “Talking about chance”: The presentation of risk information during genetic counseling for breast and ovarian cancer. The Journal of Genetic Counseling, 6(3), 269–286.CrossRefGoogle Scholar
  14. Hettema, J., Steele, J., & Miller, M. R. (2005). Motivational interveiwing. Annual Review of Clinical Psychology, 1, 91–111.PubMedCrossRefGoogle Scholar
  15. Hivert, M. F., Grant, R. W., Shrader, P., & Meigs, J. B. (2009). Identifying primary care patients at risk for future diabetes and cardiovascular disease using electronic health records. BioMed Central Health Services Research, 9, 170.PubMedCrossRefGoogle Scholar
  16. Hivert, M. F., Jablonski, K. A., Perreault, L., Saxena, R., McAteer, J. B., Franks, P. W., et al. (2011). An updated genetic score based on 34 confirmed type 2 diabetes loci is associated with diabetes incidence and regression to normoglycemia in the Diabetes Prevention Program. Diabetes, 60(4), 1340–1348.PubMedCrossRefGoogle Scholar
  17. Kaprio, J., Tuomilehto, J., Koskenvuo, M., Romanov, K., Reunanen, A., Eriksson, J., et al. (1992). Concordance for type 1 (insulin-dependent) and type 2 (non-insulin-dependent) diabetes mellitus in a population-based cohort of twins in Finland. Diabetologia, 35(11), 1060–1067.PubMedCrossRefGoogle Scholar
  18. Kasparian, N. A., Wakefield, C. E., & Meiser, B. (2007). Assessment of psychosocial outcomes in genetic counseling research: An overview of available measurement scales. Journal of Genetic Counseling, 16, 693–712.PubMedCrossRefGoogle Scholar
  19. Markowitz, S. M., Park, E. R., Delahanty, L. M., O’Brien, K. E., & Grant, R. W. (2011). Perceived impact of diabetes genetic risk testing among patients at high phenotypic risk for type 2 diabetes. Diabetes Care, 34(3), 568–573.PubMedCrossRefGoogle Scholar
  20. Marteau, T. M., & Lerman, C. (2001). Genetic risk and behavioral change. British Medical Journal, 322, 1056–1059.PubMedCrossRefGoogle Scholar
  21. Marteau, T. M., French, D. P., Griffin, S. J., Prevost, A. T., Sutton, S., Watkinson, C., et al. (2010). Effects of communicating DNA-based disease risk estimates on risk-reducing behaviors (review). Cochrane Database of Systemic Reviews, 10, 1–77.Google Scholar
  22. Meigs, J. B., Shrader, P., Sullivan, L. M., McAteer, J. B., Fox, C. S., Dupuis, J., et al. (2008). Genotype score in addition to common risk factors for prediction of type 2 diabetes. New England Journal of Medicine, 359(21), 2208–2219.PubMedCrossRefGoogle Scholar
  23. National Society of Genetic Counselors (2005). Definition/FAQ’s. Retrieved 5/27/2011, from http://www.nsgc.org/About/FAQsDefinitions/tabid/97/Default.aspx
  24. O’Daniel, J. M. (2010). The prospect of genome-guided preventive medicine: a need and opportunity for genetic counselors. Journal of Genetic Counseling, 19(4), 315–327.PubMedCrossRefGoogle Scholar
  25. O’Daniel, J. M., Haga, S. B., & Willard, H. F. (2010). Considerations for the impact of personal genome information: A study of genomic profiling among genetics and genomics professionals. Journal of Genetic Counseling, 19(4), 387–401.PubMedCrossRefGoogle Scholar
  26. Resnik, D. B. (2003). Genetic testing and primary care: a new ethic for a new setting. New Genetics and Society, 22(3), 245–256.PubMedCrossRefGoogle Scholar
  27. Sanderson, S. C., Humphries, S. E., Hubbart, C., Hughes, E., Jarvis, M. J., & Wardle, J. (2008a). Psychological and behavioural impact of genetic testing smokers for lung cancer risk: A phase II exploratory trial. Journal of Health Psychology, 13(4), 481–494.CrossRefGoogle Scholar
  28. Sanderson, S. C., Wardle, J., & Humphries, S. E. (2008b). Public health genomics and genetic test evaluation: The challenge of conducting behavioral research on the utility of lifestyle-genetic tests. Journal of Nutrigenetics and Nutrigenomics, 1, 223–231.CrossRefGoogle Scholar
  29. Scheuner, M. T., Sieverding, P., & Shekell, P. G. (2008). Delivery of genomic medicine for common chronic adult diseases. A systemic review. Journal of the American Medical Association, 299(11), 1320–1334.PubMedCrossRefGoogle Scholar
  30. Sivell, S., Elwyn, G., Gaff, C. L., Clarke, 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: Systemic review. The Journal of Genetic Counseling, 17(1), 30–63.CrossRefGoogle Scholar
  31. Smets, E. M., Pieterse, A. H., Aalfs, C. M., Ausems, M. G., & van Dulmen, A. M. (2006). The Perceived Personal Control (PPC) Questionnaire as an outcome of genetic counseling: Reliability and validity of the instrument. American Journal of Medical Genetics Part A, 140, 843–850.PubMedCrossRefGoogle Scholar
  32. Weil, J. (2000). Psychosocial genetic counseling. New York, NY: Oxford University Press, Inc.Google Scholar
  33. Weil, J. (2003). Psychosocial genetic counseling in the post-nondirective era: A point of view. Journal of Genetic Counseling, 12(3), 199–211.PubMedCrossRefGoogle Scholar
  34. Weil, J., Ormond, K., Peters, J., Peters, K., Biesecker, B. B., & LeRoy, B. (2006). The relationship of nondirectiveness to genetic counseling: Report of a workshop at the 2003 NSGC Annual Education Conference. Journal of Genetic Counseling, 15(2), 85–93.PubMedCrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2012

Authors and Affiliations

  • Jessica L. Waxler
    • 1
    • 8
  • Kelsey E. O’Brien
    • 2
  • Linda M. Delahanty
    • 3
    • 6
  • James B. Meigs
    • 2
    • 6
  • Jose C. Florez
    • 3
    • 4
    • 6
  • Elyse R. Park
    • 5
    • 6
  • Barbara R. Pober
    • 1
    • 6
  • Richard W. Grant
    • 7
  1. 1.Department of PediatricsMassachusetts General HospitalBostonUSA
  2. 2.Division of General MedicineMassachusetts General HospitalBostonUSA
  3. 3.Massachusetts General Hospital Diabetes CenterMassachusetts General HospitalBostonUSA
  4. 4.Center for Human Genetic ResearchMassachusetts General HospitalBostonUSA
  5. 5.Mongan Institute for Health PolicyMassachusetts General HospitalBostonUSA
  6. 6.Harvard Medical SchoolBostonUSA
  7. 7.Division of ResearchKaiser Permanente Northern CaliforniaOaklandUSA
  8. 8.BostonUSA

Personalised recommendations