Case Report: Direct Access Genetic Testing and A False-Positive Result For Long QT Syndrome
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- 作者：Sarah Predham ; Sara Hamilton ; Alison M. Elliott…
- 关键词：Direct access genetic testing ; False positive ; Health economics ; Public policy ; Long ; QT syndrome ; Secondary findings ; Testing accuracy ; Positive predictive value
- 刊名：Journal of Genetic Counseling
- 出版年：2016
- 出版时间：February 2016
- 年：2016
- 卷：25
- 期：1
- 页码：25-31
- 全文大小：293 KB
- 参考文献：23andMe – Canada. DNA Genetic Testing & Analysis (2015). Retrieved from https://store.23andme.com/en-ca/cart/?utm_campaign=CA_Search-Branded+&utm_term=20_dollar_promo&gclid=Cj0KEQiA0aemBRC8p87zv_mc5qYBEiQAiEEMQVVWz3z2Qmiv9GdzZcuuUyCZS8JiXwXu4arIvUoa66YaAjWr8P8HAQ&utm_content=23c_Search_Paid_Brand&utm_source=google&utm_medium=cpc . Accessed 29 Jan 2015.
23andMe – UK. DNA Genetic Testing & Analysis (2015). Retrieved from https://www.23andme.com/en-gb/?utm_source=google&utm_medium=cpc&utm_campaign=GB_Search-Branded&utm_content=23c_Search_Paid_Brand&gclid=Cj0KEQiA0aemBRC8p87zv_mc5qYBEiQAiEEMQcbVZ5W_gK6tp7DVIb608DyOClS_l_6ZTpgY7vamNSYaAi3b8P8HAQ . Accessed 29 Jan 2015.
Ackerman, M. J., Priori, S. G., Willems, S., Berul, C., Brugada, R., Calkins, H., et al. (2011). HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies. This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Europace, 13, 1077–1109.
Amendola, L. M., Dorschner, M. O., Robertson, P. D., Salama, J. S., Hart, R., Shirts, B. H., et al. (2015). Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Research, 25, 305–315.
Aviva Health UK Limited (2012). Retrieved April 4, 2015 from http://www.aviva.co.uk/health-insurance/practitioner-zone/online-fee-schedule/ .
Bloss, C. S., Darst, B. F., Topol, E. J., & Schork, N. J. (2011). Direct-to-consumer personalized genomic testing. Human Molecular Genetics, 20, 132–141.CrossRef
Borry, P., van Hellemondt, R. E., Sprumont, D., Jales, C. F. D., Rial-Sebbag, E., Spranger, T. M., Curren, L., et al. (2012). Legislation on direct-to-consumer genetic testing in seven European countries. European Journal of Human Genetics, 20, 715–721.PubMedCentral CrossRef PubMed
Centers for Medicare and Medicaid Services. (2015). Retrieved May 26, 2015 from https://www.cms.gov/Medicare/Medicare-Fee-for-ServicePayment/FeeScheduleGenInfo/ index.html?redirect=/FeeScheduleGenInfo .
Christenhusz, G. M., Devriendt, K., & Dierickx, K. (2013). To tell or not to tell; A systematic review of ethical reflections on incidental findings arising in genetics contexts. European Journal of Human Genetics, 21, 248–255.PubMedCentral CrossRef PubMed
Company Bankruptcy Information for Existence Genetics, LLC. (n.d.). Retrieved February 13, 2015, from http://business-bankruptcies.com/cases/existence-genetics-llc .
Darst, B. F., Madlensky, L., Schork, N. J., Topol, E. J., & Bloss, C. S. (2013). Perceptions of genetic counseling services in direct‐to‐consumer personal genomic testing. Clinical Genetics, 84, 335–339.CrossRef PubMed
Fair Health Consumer Cost Lookup. (2015). Retrieved May 26, 2015 from Fairhealthconsumer.org/medical_cost.php .
Federal Executive Council of the Commonwealth of Australia. (2014). Government of Australia Health Insurance (General Medical Services Table) Regulation 2014. Retrieved April 4, 2015 from http://www.comlaw.gov.au/Details/F2014L00713 .
Gollob, M. H. (2011). Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper. Canadian Journal of Cardiology, 27, 232–245.
Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., McGuire, A. L., et al. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 15, 565–575.PubMedCentral CrossRef PubMed
Gutierrez, A. (2013). United States Department of Health and Human Services Public Health Service Food and Drug Administration warning letter CMS 415534 Document Number: GEN1300666 Re: Personal Genome Service (PGS). [Online Letter dated 22 Nov 2013]. Retrieved from http://www.fda.gov/iceci/enforcementactions/warningletters/2013/ucm376296.htm .
Harris, A., Kelly, S. E., & Wyatt, S. (2013). Counselling customers: emerging roles for genetic counselors in the direct-to-consumer genetic testing market. Journal of Genetic Counseling, 22, 277–288.PubMedCentral CrossRef PubMed
Hogarth, S., Javitt, G., & Melzer, D. (2008). The current landscape for direct-to consumer genetic testing: legal, ethical, and policy issues. Annual Review of Genomics and Human Genetics, 9, 161–182.CrossRef PubMed
Ingles, J., Zodgekar, P. R., Yeates, L., Macciocca, I., Semsarian, C., & Fatkin, D. (2011). Guidelines for genetic testing of inherited cardiac disorders. Cardiac Genetic Testing, 20, 681–687.
Kaufman, D. J., Bollinger, J. M., Dvoskin, R. L., & Scott, J. A. (2012). Risky buisness: risk perception and the use of medical services among customers of DTC personal genetic testing. Journal of Genetic Counseling, 21, 413–422.
Kohane, I., Masys, D., & Altman, R. (2006). The incidentalome: a threat to genomic medicine. Journal of the American Medical Association, 296, 212–215.CrossRef PubMed
Lohn, Z., Adam, S., Birch, P. H., & Friedman, J. M. (2013). Incidental findings from clinical genome-wide sequencing: a review. Journal of Genetic Counseling, 23, 463–473.CrossRef PubMed
Medical Services Commission (2014). Medical Services Plan Payment Schedule-Cardiology. Retrieved April 4, 2015 from http://www2.gov.bc.ca/gov/DownloadAsset?assetId=B9632FD375554883BF60413D8167959B&filename=13-cardiology.pdf .
Morita, H., Wu, J., & Zipes, D. P. (2008). The QT syndromes: long and short. Lancet, 372, 750–763.CrossRef PubMed
Myers, M. (2011). Health care providers and direct-to-consumer access and advertising of genetic testing in the United States. Genome Medicine, 3, 81.PubMedCentral CrossRef PubMed
Nakano, Y., & Shimizu, W. (2015). Genetics of long-QT syndrome. Journal of Human Genetics, 1–5.
NSGC Headquarters. (19 June 2015). Direct access to genetic testing position statement. Retrieved July 8, 2015 from: http://nsgc.org/p/bl/et/blogaid=370 .
Pundi, K. N., Bos, J. M., Cannon, B. C., & Ackerman, M. J. (2015). Automated extrenal defibrillator rescues among children with diagnosed and treated long QT syndrome. Heart Rhythm, 4, 776–781.CrossRef
Roberts, J. S., & Ostergren, J. (2013). Direct-to-consumer genetic testing and personal genomics services: a review of recent empirical studies. Current Genetic Medicine Reports, 1, 182–200.
Sanfilippo, P. G., Kearns, L. S., Wright, P., Mackey, D. A., & Hewitt, A. W. (2015). Current landscape of direct‐to‐consumer genetic testing and its role in ophthalmology: a review. Clinical & Experimental Ophthalmology.
Su, P. (2013). Direct-to-consumer genetic testing: a comprehensive view. Yale Journal of Biology and Medicine, 86, 359–365.PubMedCentral PubMed
The Education, Ethics and Public Policy committee of the Canadian College of Medical Geneticists (CCMG). Direct-to-consumer (DTC) genetic testing in this country. Letter to Health Canada. [Online letter dated 19 July 2015]. Retrieved from: http://www.ccmg-ccgm.org/index.php/news-article-11.html?id=230catid=122 .
van den Berg, S., Shen, Y., Jones, S. J. M., & Gibson, W. T. (2014). Genetic counseling in direct-to-consumer exome sequencing: a case report. Journal of Genetic Counseling, 23, 742–53.
Vrecar, I., Peterlin, B., Teran, N., & Lovrecic, L. (2015). Direct-to-consumer genetic testing in Slovenia: availability, ethical dilemmas and legislation. Biochemia Medica, 5, 84–89.CrossRef
Weaver, M., & Pollin, T. I. (2012). Direct-to-consumer genetic testing: what are we talking about? Journal of Genetic Counseling, 21, 361–366. - 作者单位：Sarah Predham (1)
Sara Hamilton (1)
Alison M. Elliott (1) (2)
William T. Gibson (1) (2)
1. Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
2. Child and Family Research Institute, Vancouver, BC, Canada - 刊物类别：Biomedical and Life Sciences
- 刊物主题：Biomedicine
Human Genetics
Public Health
Clinical Psychology
Gynecology
Ethics - 出版者：Springer Netherlands
- ISSN：1573-3599
文摘
We report the case of a woman who pursued direct access genetic testing and then presented with concerns regarding a positive test result for Long-QT syndrome. Although the result ultimately proved to be a false positive, this case illustrates that costs associated with follow-up of direct access genetic testing results can be non-trivial for both the patient and for health care systems. Here we raise policy questions regarding the appropriate distribution of these costs. We also discuss the possibility that, when confronted by a direct access genetic test result that reports high risk for one or more actionable diseases, a family physician might feel compelled to act out of a desire to avoid liability, even when information regarding the accuracy and validity of the testing were not easily accessible. This case outlines lessons that can easily be translated into clinical practice, not only by genetic counselors, but also by family physicians, medical specialists and members of the public. Keywords Direct access genetic testing False positive Health economics Public policy Long-QT syndrome Secondary findings Testing accuracy Positive predictive value