Journal of Genetic Counseling

, Volume 21, Issue 3, pp 402–412 | Cite as

Direct-to-Consumer Personal Genomic Testing: A Case Study and Practical Recommendations for “Genomic Counseling”

Case Study

Abstract

Technological advances and information-seeking consumers have pushed forward the movement of direct-to-consumer (DTC) genetic testing. Just like with other types of testing, there are potential risks, benefits and limitations. A major limitation of DTC testing is the incomplete view it provides regarding lifetime risk for common, complex diseases, since most tests only analyze 1–2 single nucleotide polymorphisms (SNPs) and do not include evaluation of medical or family histories, which is necessary to risk assessment. Further, it is not currently well-established whether personal genomic testing results will lead toward improved health behaviors, adverse psychological effects or potential overuse of the health care system. To display these and other issues, we present an in-depth case study of an individual who ordered DTC genetic testing and subsequently sought genetic counseling. This case presents a unique learning experience for the field of genomic counseling, as the patient did not fit the typical assumptions regarding ‘early adopters’ of DTC testing. It also allowed the genetics health care providers involved in the case to identify gaps in current genetic counseling practice that need to be filled and approaches to employ for successful delivery of genomic counseling. Based on our experience, we developed practical recommendations for genomic counseling, which include novel approaches to case preparation, use of electronic tools during the counseling session, and focusing on education as the major component of the genomic counseling session, in order to provide patients with the knowledge necessary to independently interpret and understand large amounts of genomic testing information provided to them.

Keywords

Genomic counseling Direct-to-consumer genetic testing Personal genomics Family history Risk assessment 

References

  1. Abnet, C. C., Freedman, N. D., Hu, N., Wang, Z., Yu, K., Shu, X. O., et al. (2010). A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. Nature Genetics, 42(9), 764–767.PubMedCrossRefGoogle Scholar
  2. Alexander, J., & Kowdley, K. V. (2009). HFE-associated hereditary hemochromatosis. Genetics in Medicine, 11(5), 307–313.PubMedCrossRefGoogle Scholar
  3. Bloss, C. S., Schork, N. J., & Topol, E. J. (2011). Effect of direct-to-consumer genomewide profiling to assess disease risk. The New England Journal of Medicine, 364(6), 524–534.PubMedCrossRefGoogle Scholar
  4. Borry, P., Cornel, M. C., & Howard, H. C. (2010). Where are you going, where have you been: a recent history of the direct-to-consumer genetic testing market. Journal of Community Genetics, 1(3), 101–106.PubMedCrossRefGoogle Scholar
  5. Bowen, D. J., Battuello, K. M., & Raats, M. (2005). Marketing genetic tests: empowerment or snake oil? Health Education & Behavior, 32(5), 676–685.CrossRefGoogle Scholar
  6. Cameron, L. D., Sherman, K. A., Marteau, T. M., & Brown, P. M. (2009). Impact of genetic risk information and type of disease on perceived risk, anticipated affect, and expected consequences of genetic tests. Health Psychology, 28(3), 307–316.PubMedCrossRefGoogle Scholar
  7. 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.PubMedCrossRefGoogle Scholar
  8. Dhillon, P. K., Farrow, D. C., Vaughan, T. L., Chow, W. H., Risch, H. A., Gammon, M. D., et al. (2001). Family history of cancer and risk of esophageal and gastric cancers in the United States. International Journal of Cancer, 93(1), 148–152.CrossRefGoogle Scholar
  9. DTC Genetic Testing Companies Compiled by the Genetics and Public Policy Center. (2011). Retrieved September 2, 2011, from http://www.dnapolicy.org/resources/DTCTableAug2011Alphabydisease.pdf.
  10. Foster, M. W., Mulvihill, J. J., & Sharp, R. R. (2009). Evaluating the utility of personal genomic information. Genetics in Medicine, 11(8), 570–574.PubMedCrossRefGoogle Scholar
  11. Gollust, S. E., Hull, S. C., & Wilfond, B. S. (2002). Limitations of direct-to-consumer advertising for clinical genetic testing. Journal of the American Medical Association, 288(14), 1762–1767.PubMedCrossRefGoogle Scholar
  12. Gollust, S. E., Gordon, E. S., Zayac, C., Griffin, G., Christman, M. F., Pyeritz, R. E., et al. (2012). Motivations and perceptions of early adopters of personalized genomics: perspectives from research participants. Public Health Genomics, 15, 22–30.PubMedCrossRefGoogle Scholar
  13. Green, R. C., Roberts, J. S., Cupples, L. A., Relkin, N. R., Whitehouse, P. J., Brown, T., et al. (2009). Disclosure of APOE genotype for risk of Alzheimer’s disease. The New England Journal of Medicine, 361(3), 245–254.PubMedCrossRefGoogle Scholar
  14. Gulcher, J., & Stefansson, K. (2010). Genetic risk information for common diseases may indeed be already useful for prevention and early detection. European Journal of Clinical Investigation, 40(1), 56–63.PubMedCrossRefGoogle Scholar
  15. Guttmacher, A. E., Porteous, M. E., & McInerney, J. D. (2007). Educating health-care professionals about genetics and genomics. Nature Reviews Genetics, 8(2), 151–157.PubMedCrossRefGoogle Scholar
  16. Hamajima, N., Atsuta, Y., Goto, Y., & Ito, H. (2004). A pilot study on genotype announcement to induce smoking cessation by Japanese smokers. Asian Pacific Journal of Cancer Prevention, 5(4), 409–413.PubMedGoogle Scholar
  17. Hamajima, N., Suzuki, K., Ito, Y., & Kondo, T. (2006). Genotype announcement to Japanese smokers who attended a health checkup examination. Journal of Epidemiology, 16(1), 45–47.PubMedCrossRefGoogle Scholar
  18. Ito, H., Matsuo, K., Wakai, K., Saito, T., Kumimoto, H., Okuma, K., et al. (2006). An intervention study of smoking cessation with feedback on genetic cancer susceptibility in Japan. Preventive Medicine, 42(2), 102–108.PubMedCrossRefGoogle Scholar
  19. Janssens, A. C., Wilde, A. A., & van Langen, I. M. (2011). The sense and nonsense of direct-to-consumer genetic testing for cardiovascular disease. Netherlands Heart Journal, 19(2), 85–88.PubMedCrossRefGoogle Scholar
  20. Lagergren, J., Ye, W., Lindgren, A., & Nyren, O. (2000). Heredity and risk of cancer of the esophagus and gastric cardia. Cancer Epidemiology, Biomarkers & Prevention, 9(7), 757–760.Google Scholar
  21. Lerman, C., Gold, K., Audrain, J., Lin, T. H., Boyd, N. R., Orleans, C. T., et al. (1997). Incorporating biomarkers of exposure and genetic susceptibility into smoking cessation treatment: effects on smoking-related cognitions, emotions, and behavior change. Health Psychology, 16(1), 87–99.PubMedCrossRefGoogle Scholar
  22. 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 & Prevention, 11(6), 521–528.Google Scholar
  23. 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.PubMedCrossRefGoogle Scholar
  24. 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, 11(8), 582–587.PubMedCrossRefGoogle Scholar
  25. McBride, C. M., Koehly, L. M., Sanderson, S. C., & Kaphingst, K. A. (2010). 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.PubMedCrossRefGoogle Scholar
  26. 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.PubMedCrossRefGoogle Scholar
  27. 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
  28. Nelson, E. A., & McGuire, A. L. (2010). The need for medical education reform: genomics and the changing nature of health information. Genome Medicine, 2(3), 18.PubMedCrossRefGoogle Scholar
  29. Ng, P. C., Murray, S. S., Levy, S., & Venter, J. C. (2009). An agenda for personalized medicine. Nature, 461(7265), 724–726.PubMedCrossRefGoogle Scholar
  30. 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
  31. Ransohoff, D. F., & Khoury, M. J. (2010). Personal genomics: information can be harmful. European Journal of Clinical Investigation, 40(1), 64–68.PubMedCrossRefGoogle Scholar
  32. Scheuner, M. T. (2003). Genetic evaluation for coronary artery disease. Genetics in Medicine, 5(4), 269–285.PubMedCrossRefGoogle Scholar
  33. Scheuner, M. T., Whitworth, W. C., McGruder, H., Yoon, P. W., & Khoury, M. J. (2006). Expanding the definition of a positive family history for early-onset coronary heart disease. Genetics in Medicine, 8(8), 491–501.PubMedCrossRefGoogle Scholar
  34. 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
  35. Soskolne, C. L., & Sieswerda, L. E. (2010). Cancer risk associated with pulp and paper mills: a review of occupational and community epidemiology. Chronic Diseases in Canada, 29(Suppl 2), 86–100.PubMedGoogle Scholar
  36. Stack, C. B., Gharani, N., Gordon, E. S., Schmidlen, T., Christman, M. F., & Keller, M. A. (2011). Genetic risk estimation in the Coriell Personalized Medicine Collaborative. Genetics in Medicine, 13(2), 131–139.PubMedCrossRefGoogle Scholar
  37. Swan, M. (2010). Multigenic condition risk assessment in direct-to-consumer genomic services. Genetics in Medicine, 12(5), 279–288.PubMedCrossRefGoogle Scholar
  38. Wang, L. D., Zhou, F. Y., Li, X. M., Sun, L. D., Song, X., Jin, Y., et al. (2010). Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54. Nature Genetics, 42(9), 759–763.PubMedCrossRefGoogle Scholar
  39. Watkins, S., Thorburn, D., Joshi, N., Neilson, M., Joyce, T., Spooner, R., et al. (2008). The biochemical and clinical penetrance of individuals diagnosed with genetic haemochromatosis by predictive genetic testing. European Journal of Gastroenterology and Hepatology, 20(5), 379–383.PubMedCrossRefGoogle Scholar
  40. Yang, Q., Flanders, W. D., Moonesinghe, R., Ioannidis, J. P., Guessous, I., & Khoury, M. J. (2009). Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty. American Journal of Human Genetics, 85(6), 786–800.PubMedCrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2012

Authors and Affiliations

  1. 1.Division of Human Genetics, Department of Internal MedicineThe Ohio State University Medical CenterColumbusUSA
  2. 2.Center for Personalized Health CareThe Ohio State University Medical CenterColumbusUSA
  3. 3.Center for Molecular and Human GeneticsNationwide Children’s HospitalColumbusUSA
  4. 4.Division of Human Genetics, Center for Personalized Health CareThe Ohio State University Medical CenterColumbusUSA

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