Direct-to-Consumer Genetic Testing: What Are We Talking About?
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The term Direct-to-Consumer (DTC) genetic testing refers to many different categories of testing. This editorial addresses the issues related to DTC testing for large effect and small effect variants associated with disease. In particular, there are issues of clinical validity and utility, informativeness and residual risk. Genetic counselors are poised to address these issues because of their training in probability and statistical models. The authors suggest that genetic counselors can impact the general public’s understanding of DTC test results by: including evaluation of DTC concepts in graduate program curricula, holding AEC plenary sessions about emerging DTC concepts, and helping other professionals understand DTC concepts. Importantly, genetic counselors are advised to continue doing and promoting rigorous research on how people access and use DTC genetic testing and results, as well as gathering empirical data so that discussions of harms and benefits can go beyond theory. It is our hope that genetic counselors in practice will continue to critically evaluate claims made about emerging new tests, including those marketed DTC, in order to provide the best possible services to our patients.
- Ahlqvist, E., Ahluwalia, T. S., & Groop, L. (2011). Genetics of type 2 diabetes. Clinical Chemistry, 57(2), 241–254. CrossRef
- Antoniou, A., Pharoah, P. D., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., et al. (2003). Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. American Journal of Human Genetics, 72(5), 1117–1130. CrossRef
- 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. CrossRef
- Blumenthal, D., Causino, N., Chang, Y. C., Culpepper, L., Marder, W., Saglam, D., et al. (1999). The duration of ambulatory visits to physicians. The Journal of Family Practice, 48(4), 264–271.
- Burke, W., Culver, J. O., Bowen, D., Lowry, D., Durfy, S., McTiernan, A., & Andersen, M. R. (2000). Genetic counseling for women with an intermediate family history of breast cancer. American Journal of Medical Genetics, 90(5), 361–368. CrossRef
- Giardiello, F. M., Brensinger, J. D., Petersen, G. M., Luce, M. C., Hylind, L. M., Bacon, J. A., et al. (1997). The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. The New England Journal of Medicine, 336(12), 823–827. CrossRef
- Grosse, S. D., Boyle, C. A., Botkin, J. R., Comeau, A. M., Kharrazi, M., Rosenfeld, M., et al. (2004). Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recommendations and Reports: Morbidity and Mortality Weekly Report Recommendations and Reports/Centers for Disease Control, 53(RR-13), 1–36.
- Grosse, S. D., & Khoury, M. J. (2006). What is the clinical utility of genetic testing? Genetics in Medicine: Official Journal of the American College of Medical Genetics, 8(7), 448–450.
- Hayat Roshanai, A., Rosenquist, R., Lampic, C., & Nordin, K. (2009). Cancer genetic counselees' self-reported psychological distress, changes in life, and adherence to recommended surveillance programs 3–7 years post counseling. Journal of Genetic Counseling, 18(2), 185–194. CrossRef
- Hock, K. T., Christensen, K. D., Yashar, B. M., Roberts, J. S., Gollust, S. E., & Uhlmann, W. R. (2011). Direct-to-consumer genetic testing: an assessment of genetic counselors’ knowledge and beliefs. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 13(4), 325–332.
- Lerman, C., Lustbader, E., Rimer, B., Daly, M., Miller, S., Sands, C., & Balshem, A. (1995). Effects of individualized breast cancer risk counseling: a randomized trial. Journal of the National Cancer Institute, 87(4), 286–292. CrossRef
- Maher, B. (2008). Personal genomes: the case of the missing heritability. Nature, 456(7218), 18–21. CrossRef
- Mihaescu, R., Meigs, J., Sijbrands, E., & Janssens, A. C. (2011). Genetic risk profiling for prediction of type 2 diabetes. PLoS Currents, 3, RRN1208. CrossRef
- Myers, M. F., Chang, M. H., Jorgensen, C., Whitworth, W., Kassim, S., Litch, J. A., et al. (2006). Genetic testing for susceptibility to breast and ovarian cancer: evaluating the impact of a direct-to-consumer marketing campaign on physicians' knowledge and practices. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 8(6), 361–370.
- Pinto, D., Darvishi, K., Shi, X., Rajan, D., Rigler, D., Fitzgerald, T., et al. (2011). Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nature Biotechnology, 29(6), 512–520. CrossRef
- 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: systematic review. Journal of Genetic Counseling, 17(1), 30–63. CrossRef
- Voight, B. F., Scott, L. J., Steinthorsdottir, V., Morris, A. P., Dina, C., Welch, R. P., et al. (2010). Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nature Genetics, 42(7), 579–589. CrossRef
- Watson, M., Lloyd, S., Davidson, J., Meyer, L., Eeles, R., Ebbs, S., & Murday, V. (1999). The impact of genetic counselling on risk perception and mental health in women with a family history of breast cancer. British Journal of Cancer, 79(5–6), 868–874. CrossRef
- Wroe, A. L., Salkovskis, P. M., & Rimes, K. A. (1998). The prospect of predictive testing for personal risk: attitudes and decision making. Behaviour Research and Therapy, 36(6), 599–619. CrossRef
- Direct-to-Consumer Genetic Testing: What Are We Talking About?
Journal of Genetic Counseling
Volume 21, Issue 3 , pp 361-366
- Cover Date
- Print ISSN
- Online ISSN
- Springer US
- Additional Links
- Direct-to-Consumer genetic testing
- Common complex disease
- Mendelian disease
- Small effect variants
- Large effect variants
- Industry Sectors
- Author Affiliations
- 1. Department of Pediatrics, University of Maryland School of Medicine, Baltimore, MD, USA
- 2. Departments of Medicine and Epidemiology & Public Health, University of Maryland School of Medicine, 660 West Redwood Street, Room 445C, Baltimore, MD, 21201, USA