메뉴 건너뛰기




Volumn 31, Issue 2, 2012, Pages 159-181

Consuming genomes: Scientific and social innovation in direct-to-consumer genetic testing

Author keywords

analytic validity; clinical utility; clinical validity; direct to consumer; genetic testing

Indexed keywords

ARTICLE; CONSUMER; CYSTIC FIBROSIS; DIRECT TO CONSUMER GENETIC SCREENING; FOOD AND DRUG ADMINISTRATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; HEALTH CARE UTILIZATION; HUMAN; KNOWLEDGE; MICROSCOPY; NEWBORN SCREENING; PATIENT INFORMATION; PHENYLKETONURIA; PRIORITY JOURNAL; SICKLE CELL ANEMIA; STANDARDIZATION; VALIDITY;

EID: 84862167712     PISSN: 14636778     EISSN: 14699915     Source Type: Journal    
DOI: 10.1080/14636778.2012.662032     Document Type: Article
Times cited : (27)

References (47)
  • 1
    • 84862168050 scopus 로고    scopus 로고
    • 23andMe [online]. [page no longer available]
    • 23andMe, 2010a. 23andMe letter to heads of FDA and NIH [online]. [page no longer available].
    • (2010) 23andMe letter to heads of FDA and NIH
  • 2
    • 84862178658 scopus 로고    scopus 로고
    • 23andMe [online]. Available from, [Accessed 10 March 2010]
    • 23andMe, 2010b. Core values [online]. Available from: Https://www.23andme.com/about/values/ [Accessed 10 March 2010].
    • (2010) Core Values
  • 3
    • 84862178300 scopus 로고    scopus 로고
    • 23andMe [online]. Available from, [Accessed 28 June 2010]
    • 23andMe. Open letter to the medical community [online]. Available from: Https://www.23andme.com/for/physicians/ [Accessed 28 June 2010].
    • Open Letter to the Medical Community
  • 4
    • 84862178299 scopus 로고    scopus 로고
    • 23andMe [online]. Available from [Accessed 15 June 2010]
    • 23andMe. Update from 23andMe [online]. Available from: Http://spittoon.23andme.com/ [Accessed 15 June 2010].
    • Update from 23andMe
  • 5
    • 77952525172 scopus 로고    scopus 로고
    • 23andMe and Navigenics, 18 November [online]. Available from, [Accessed 28 June 2010]
    • 23andMe and Navigenics, 18 November 2009. 23andMe & Navigenics' open letter to Nature [online]. Available from: Http://spittoon.23andme.com/2009/11/ 18/23andme-navigenics-openletter- to-nature/ [Accessed 28 June 2010]
    • (2009) 23andMe & Navigenics' open letter to Nature
  • 7
    • 77955619710 scopus 로고    scopus 로고
    • Which way for genetic-test regulation? Leave test interpretation to specialists
    • Beaudet, A.L., 2010. Which way for genetic-test regulation? Leave test interpretation to specialists Nature, 466, 816-817.
    • (2010) Nature , vol.466 , pp. 816-817
    • Beaudet, A.L.1
  • 8
    • 79851493086 scopus 로고    scopus 로고
    • Effect of direct-to-consumer genomewide profiling to assess disease risk
    • Bloss, C.S., Schork, N.J., and Topol, E.J., 2011. Effect of direct-to-consumer genomewide profiling to assess disease risk. New England Journal of Medicine, 364, 524-534.
    • (2011) New England Journal of Medicine , vol.364 , pp. 524-534
    • Bloss, C.S.1    Schork, N.J.2    Topol, E.J.3
  • 9
    • 84862189803 scopus 로고    scopus 로고
    • Centers for Disease Control and Prevention [online]. Available from, [Accessed 1 August 2010]
    • Centers for Disease Control and Prevention, 2009. ACCE: A CDC-sponsored project carried out by the foundation of blood research [online]. Available from: Http://www.cdc.gov/genomics/ gTesting/ACCE.htm [Accessed 1 August 2010].
    • (2009) ACCE: A CDC-Sponsored Project Carried Out by the Foundation of Blood Research
  • 10
    • 82755175814 scopus 로고    scopus 로고
    • Centers for Disease Control and Prevention [online]. Available from, [Accessed 29 June 2010]
    • Centers for Disease Control and Prevention, 2010. Genomic translation: ACCE model process for evaluating genetic tests [online]. Available from: Http://www.cdc.gov/genomics/gtesting/ ACCE/index.htm [Accessed 29 June 2010].
    • (2010) Genomic Translation: ACCE Model Process for Evaluating Genetic Tests
  • 11
    • 0004299939 scopus 로고
    • Committee on Inborn Errors of Metabolism, Washington, DC: National Academy of Sciences
    • Committee on Inborn Errors of Metabolism, 1975. Genetic screening: Programs, principles, and research. Washington, DC: National Academy of Sciences.
    • (1975) Genetic Screening: Programs, Principles, and Research.
  • 12
    • 84862167642 scopus 로고    scopus 로고
    • Department of Health and Human Services, Food & Drug Administration, 10 June. Silver Spring, MD. [online] Available from:
    • Department of Health and Human Services, Food & Drug Administration, 10 June 2010. Letters to Dr Vanier and Ms Wojcicki. Silver Spring, MD. [online] Available from: Http://www.fda. gov/MedicalDevices/ProductsandMedicalProcedures/ InVitroDiagnostics/default.htm
    • (2010) Letters to Dr Vanier and Ms Wojcicki
  • 13
    • 0000952869 scopus 로고    scopus 로고
    • Request for public comment on a proposed classification methodology for determining level of review for genetic tests
    • Department of Health and Human Services, Secretary's Advisory Committee on Genetic Testing
    • Department of Health and Human Services, Secretary's Advisory Committee on Genetic Testing, 2000. Request for public comment on a proposed classification methodology for determining level of review for genetic tests. Federal Register, 65 (236), 76643-76645.
    • (2000) Federal Register , vol.65 , Issue.236 , pp. 76643-76645
  • 14
    • 79959841853 scopus 로고    scopus 로고
    • Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease
    • Do, C.B., et al., 2011. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genetics, 7 (6), e1002141.
    • (2011) PLoS Genetics , vol.7 , Issue.6
    • Do, C.B.1
  • 15
    • 77954167176 scopus 로고    scopus 로고
    • Web-based, participant-driven studies yield novel genetic associations for common traits
    • Eriksson, N., et al., 2010. Web-based, participant-driven studies yield novel genetic associations for common traits. PLoS Genetics, 6 (6), e1000993.
    • (2010) PLoS Genetics , vol.6 , Issue.6
    • Eriksson, N.1
  • 16
    • 84862167647 scopus 로고
    • Federal Food Drug, and Cosmetic Act of 1938, Section 201, 25 June, 75th Cong., PL 95-295, 90 Stat 539
    • Federal Food, Drug, and Cosmetic Act of 1938, Section 201, 25 June 1938. Public Law 75-717, 75th Cong., PL 95-295, 90 Stat 539.
    • (1938) Public Law , pp. 75-717
  • 17
    • 34548134145 scopus 로고    scopus 로고
    • A whole-genome association study of major determinants for host control of HIV-1
    • Fellay, J., et al., 2007. A whole-genome association study of major determinants for host control of HIV-1. Science, 317 (5840), 944-947.
    • (2007) Science , vol.317 , Issue.5840 , pp. 944-947
    • Fellay, J.1
  • 19
    • 84862211817 scopus 로고    scopus 로고
    • Genetics Home Reference [online]. Available from: Genetics Home Reference[Accessed 6 June 2010].
    • Genetics Home Reference, 2009. How can consumers be sure a genetic test is valid and useful? [online]. Available from: Http://ghr.nlm.nih.gov/handbook/ testing/validtest [Accessed 6 June 2010].
    • (2009) How Can Consumers be Sure a Genetic Test is Valid and Useful?
  • 20
    • 78649306024 scopus 로고    scopus 로고
    • Sergey Brin's search for a Parkinson's cure
    • 22 July. Available from
    • Goetz, T., 2010. Sergey Brin's search for a Parkinson's cure. Wired, 22 July. Available from: Http:// www.wired.com/magazine/2010/06/ff-sergeys-search/ all/1
    • (2010) Wired
    • Goetz, T.1
  • 21
    • 84862219201 scopus 로고    scopus 로고
    • Public hearing
    • [online]. Webcast. fda.yorkcast.com. 19-20 July. Available from:
    • Gould, A., 2010, Public hearing. In: Public meeting on oversight of laboratory developed tests [online]. Webcast. fda.yorkcast.com. 19-20 July. Available from: Http://www.fda.gov/Medical Devices/NewsEvents/ WorkshopsConferences/ucm212830.htm#webcast
    • (2010) Public Meeting on Oversight of Laboratory Developed Tests
    • Gould, A.1
  • 25
    • 70349998770 scopus 로고    scopus 로고
    • Containing the atom: Sociotechnical imaginaries and nuclear power in the United States and South Korea
    • Jasanoff, S. and Kim, S.-H., 2009. Containing the atom: Sociotechnical imaginaries and nuclear power in the United States and South Korea. Minerva, 47 (2), 119-146.
    • (2009) Minerva , vol.47 , Issue.2 , pp. 119-146
    • Jasanoff, S.1    Kim, S.-H.2
  • 26
    • 77955626179 scopus 로고    scopus 로고
    • Which way for genetic-test regulation? Assign regulation appropriate to the level of risk
    • Javitt, G., 2010. Which way for genetic-test regulation? Assign regulation appropriate to the level of risk. Nature, 466, 817-818.
    • (2010) Nature , vol.466 , pp. 817-818
    • Javitt, G.1
  • 27
    • 65949099120 scopus 로고    scopus 로고
    • Genetic risk prediction - Are we there yet?
    • Kraft, P. and Hunter, D.J., 2009. Genetic risk prediction - are we there yet? New England Journal of Medicine, 360 (17), 1701-1703.
    • (2009) New England Journal of Medicine , vol.360 , Issue.17 , pp. 1701-1703
    • Kraft, P.1    Hunter, D.J.2
  • 28
    • 0015523015 scopus 로고
    • Ethical and social issues in screening for genetic disease
    • Lappe, M., Gustafson, J., and Roblin, R., 1972. Ethical and social issues in screening for genetic disease. New England Journal of Medicine, 286 (21), 1129-1132.
    • (1972) New England Journal of Medicine , vol.286 , Issue.21 , pp. 1129-1132
    • Lappe, M.1    Gustafson, J.2    Roblin, R.3
  • 29
    • 84862171195 scopus 로고    scopus 로고
    • [online]. Available from: [Accessed 25 January 2009]
    • Navigenics, 2009. Conditions we cover, and those we don't [online]. Available from: Http://www. navigenics.com [Accessed 25 January 2009].
    • (2009) Conditions We Cover, and Those We Don't
    • Navigenics1
  • 30
    • 79957913924 scopus 로고    scopus 로고
    • [online]. Available from [Accessed 28 June 2010]
    • Navigenics, 2010a. Homepage [online]. Available from: Http://www.navigenics.com [Accessed 28 June 2010].
    • (2010) Homepage
    • Navigenics1
  • 31
    • 84862219202 scopus 로고    scopus 로고
    • [online]. Available from: [Accessed 28 June 2010]
    • Navigenics, 2010b. Conditions we cover [online]. Available from: Http://www.navigenics.com [Accessed 28 June 2010].
    • (2010) Conditions We Cover
    • Navigenics1
  • 32
    • 70349943777 scopus 로고    scopus 로고
    • An agenda for personalized medicine
    • Ng, P.C., et al., 2009. An agenda for personalized medicine. Nature, 461, 724-726.
    • (2009) Nature , vol.461 , pp. 724-726
    • Ng, P.C.1
  • 33
    • 15844409188 scopus 로고    scopus 로고
    • Architectures of genetic medicine: Comparing genetic testing for breast cancer in the USA and the UK
    • Parthasarathy, S., 2005. Architectures of genetic medicine: Comparing genetic testing for breast cancer in the USA and the UK. Social Studies of Science, 35 (1), 5-40.
    • (2005) Social Studies of Science , vol.35 , Issue.1 , pp. 5-40
    • Parthasarathy, S.1
  • 34
    • 79851499334 scopus 로고    scopus 로고
    • FDA faults companies on unapproved genetic tests
    • 12 June
    • Pollack, A., 2010. FDA faults companies on unapproved genetic tests. The New York Times, 12 June, p. B2.
    • (2010) The New York Times
    • Pollack, A.1
  • 35
    • 84862219204 scopus 로고    scopus 로고
    • 23March. Gerson Lehrman Group. [online] Available from
    • Powell, K., 23March 2009. NY State regulates DTC genetic testing labs. Gerson Lehrman Group. [online] Available from: Https://www.gplus.com/Regulatory- Affairs/Insight/NY-State-Regulates-DTCGenetic- Testing-Labs-36201
    • (2009) NY State Regulates DTC Genetic Testing Labs
    • Powell, K.1
  • 37
    • 0035536137 scopus 로고    scopus 로고
    • The human genome diversity project: A case study in coproduction
    • Reardon, J., 2001. The Human Genome Diversity Project: A case study in coproduction. Social Studies of Science, 31, 357-388.
    • (2001) Social Studies of Science , vol.31 , pp. 357-388
    • Reardon, J.1
  • 38
    • 84862200334 scopus 로고    scopus 로고
    • Secretary's Advisory Committee on Genetics, Health, and Society, [online]. Available from: [Accessed 29 October 2011]
    • Secretary's Advisory Committee on Genetics, Health, and Society, 2010. Enhancing the oversight of genetic tests: Recommendations of the SACGT [online]. Available from: Http://www.google.com/url?sa=t&rct=j&q=&esrc= s&source=web&cd=1&ved=0CCUQFjAA&url=http%3A%2F%2Foba.od.nih. gov%2Foba%2Fsacgt%2Freports%2Foversight-report.pdf&ei=n3OsTomwD8rz0gHHnIT GDw&usg=AFQjCNEoos6rUowokAJt5eRejJrV-6-T-A [Accessed 29 October 2011].
    • (2010) Enhancing the Oversight of Genetic Tests: Recommendations of the SACGT
  • 40
    • 68249129930 scopus 로고    scopus 로고
    • X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women
    • Siddiqui, R.A., et al., 2009. X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women. American Journal of Human Genetics, 85 (2), 228-239.
    • (2009) American Journal of Human Genetics , vol.85 , Issue.2 , pp. 228-239
    • Siddiqui, R.A.1
  • 41
    • 84862219203 scopus 로고    scopus 로고
    • State of California Health and Human Services Agency, Department of Health, 9 June, Sacramento, CA. [online] Available from
    • State of California Health and Human Services Agency, Department of Health, 9 June, 2008. Notice to cease and desist performing genetic testing without licensure or physician order. Sacramento, CA. [online] Available from: Www.wired.com/images-blogs/wiredscience/files/madrigal.PDF
    • (2008) Notice to Cease and Desist Performing Genetic Testing Without Licensure or Physician Order
  • 43
    • 84862168048 scopus 로고    scopus 로고
    • United States Congress, House of Representatives, Committee on Energy and Commerce, 19May. Available from, and http://energycommerce.house.gov/ documents/20100519/Vanier.Navigencis.2010.5.19.pdf
    • United States Congress, House of Representatives, Committee on Energy and Commerce, 19May 2010. Letters to Dr Vanier and Ms Wojcicki. Available from: Http://energycommerce.house.gov/ documents/20100519/Wojcicki.23andME.2010.5.19. pdf and http://energycommerce.house.gov/ documents/20100519/Vanier.Navigencis. 2010.5.19.pdf
    • (2010) Letters to Dr Vanier and Ms Wojcicki
  • 44
    • 78650603522 scopus 로고    scopus 로고
    • Genes show limited value in predicting diseases
    • 16 April
    • Wade, N., 2009. Genes show limited value in predicting diseases. The New York Times, 16 April, p. A1.
    • (2009) The New York Times
    • Wade, N.1
  • 45
    • 46249129322 scopus 로고    scopus 로고
    • Gene-testing firms face legal battle
    • Wadman, M., 2008. Gene-testing firms face legal battle. Nature, 453, 1148-1149.
    • (2008) Nature , vol.453 , pp. 1148-1149
    • Wadman, M.1
  • 46
    • 0024652754 scopus 로고
    • Reporting the assessment of screening and diagnostic tests
    • Wald, N. and Cuckle, H., 1989. Reporting the assessment of screening and diagnostic tests. British Journal of Obstetric Gynecology, 96 (4), 389-396.
    • (1989) British Journal of Obstetric Gynecology , vol.96 , Issue.4 , pp. 389-396
    • Wald, N.1    Cuckle, H.2
  • 47
    • 0002519666 scopus 로고    scopus 로고
    • Models of public health genetic policy development
    • M.J. Khoury, W. Burke and E.J. Thomson, eds. New York, NY: Oxford University Press
    • Wilfond, B.S. and Thomson, E.J., 2000. Models of public health genetic policy development. In: M.J. Khoury, W. Burke and E.J. Thomson, eds. Genetics and public health in the 21st century. New York, NY: Oxford University Press, 61-81.
    • (2000) Genetics and Public Health in the 21st Century , pp. 61-81
    • Wilfond, B.S.1    Thomson, E.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.