메뉴 건너뛰기




Volumn 27, Issue 4, 2018, Pages 770-781

“Bridge to the Literature”? Third-Party Genetic Interpretation Tools and the Views of Tool Developers

Author keywords

Direct to consumer genomic testing; Personal genomic testing; Third party interpretation; Variant interpretation

Indexed keywords

ARTICLE; CONSUMER; CONTENT ANALYSIS; COUNSELOR; HEALTH CARE PERSONNEL; HUMAN; INTERVIEW; PRIVACY; SCIENTIFIC LITERATURE; FEMALE; GENETIC SCREENING; INFORMATION PROCESSING; MALE; SCREENING TEST;

EID: 85041568501     PISSN: 10597700     EISSN: 15733599     Source Type: Journal    
DOI: 10.1007/s10897-018-0217-9     Document Type: Article
Times cited : (25)

References (38)
  • 2
    • 85049717158 scopus 로고    scopus 로고
    • DNA.Land’s trait prediction report
    • Weblog, Retrieved from
    • Aufrichtig, R., & Yuan, J. (2016). DNA.Land’s trait prediction report. Medium (Weblog). Retrieved from https://medium.com/@dl1dl1/dna-lands-trait-prediction-report-8efbd3a74f98.
    • (2016) Medium
    • Aufrichtig, R.1    Yuan, J.2
  • 3
    • 85049719915 scopus 로고    scopus 로고
    • Autosomal DNA tools. (n.d.). Retrieved Aug 12, 2017, from https://isogg.org/wiki/Autosomal_DNA_tools.
    • Autosomal DNA tools
  • 4
    • 85031297406 scopus 로고    scopus 로고
    • Third party interpretation of raw genetic data: an ethical exploration
    • PID: 28832567
    • Badalato, L., Kalokairinou, L., & Borry, P. (2017). Third party interpretation of raw genetic data: an ethical exploration. European Journal of Human Genetics, 25, 1189–1194.
    • (2017) European Journal of Human Genetics , vol.25 , pp. 1189-1194
    • Badalato, L.1    Kalokairinou, L.2    Borry, P.3
  • 5
    • 85042350429 scopus 로고    scopus 로고
    • Retrieved Nov 10, 2014, from
    • Bettinger, B. (2013). What else can I do with my DNA test results? Retrieved Nov 10, 2014, from http://www.thegeneticgenealogist.com/2013/09/22/what-else-can-i-do-with-my-dna-test-results/.
    • (2013) What else can I do with my DNA test results?
    • Bettinger, B.1
  • 7
    • 85049716578 scopus 로고    scopus 로고
    • Retrieved May 14, 2017, from
    • Bobe, J. (n.d.). Sharing genome studies. Retrieved May 14, 2017, from http://blog.jasonbobe.net/sharing-genome-studies/.
    • Sharing genome studies
    • Bobe, J.1
  • 9
    • 84864120795 scopus 로고    scopus 로고
    • An exploration of genetic health professionals’ experience with direct-to-consumer genetic testing in their clinical practice
    • PID: 22317975
    • Brett, G. R., Metcalfe, S. A., Amor, D. J., & Halliday, J. L. (2012). An exploration of genetic health professionals’ experience with direct-to-consumer genetic testing in their clinical practice. European Journal of Human Genetics, 20(8), 825–830.
    • (2012) European Journal of Human Genetics , vol.20 , Issue.8 , pp. 825-830
    • Brett, G.R.1    Metcalfe, S.A.2    Amor, D.J.3    Halliday, J.L.4
  • 10
    • 85049717249 scopus 로고    scopus 로고
    • Retrieved August 12, 2017, from
    • DNA Testing Reviews. (n.d.). Retrieved August 12, 2017, from https://dnatestingchoice.com/.
    • Testing Reviews, D.N.A.1
  • 13
    • 84902284377 scopus 로고    scopus 로고
    • The first amendment right to speak about the human genome
    • PID: 25473380
    • Evans, B. J. (2014). The first amendment right to speak about the human genome. University of Pennsylvania Journal of Constitutional Law, 16(3), 549–636.
    • (2014) University of Pennsylvania Journal of Constitutional Law , vol.16 , Issue.3 , pp. 549-636
    • Evans, B.J.1
  • 14
    • 84908879578 scopus 로고    scopus 로고
    • Regulatory changes raise troubling questions for genomic testing
    • PID: 25255365
    • Evans, B. J., Dorschner, M. O., Burke, W., & Jarvik, G. P. (2014). Regulatory changes raise troubling questions for genomic testing. Genetics in Medicine, 16(11), 799–803.
    • (2014) Genetics in Medicine , vol.16 , Issue.11 , pp. 799-803
    • Evans, B.J.1    Dorschner, M.O.2    Burke, W.3    Jarvik, G.P.4
  • 15
    • 84894586685 scopus 로고    scopus 로고
    • Global Alliance for Genomics and Health. (n.d.). Regulatory & ethics toolkit. Retrieved January 22, 2018, from https://www.ga4gh.org/ga4ghtoolkit/regulatoryandethics.
    • Global Alliance for Genomics and Health
  • 16
    • 84898621976 scopus 로고    scopus 로고
    • openSNP-A crowdsourced web resource for personal genomics
    • PID: 24647222
    • Greshake, B., Bayer, P. E., Rausch, H., & Reda, J. (2014). openSNP-A crowdsourced web resource for personal genomics. PLoS One, 9(3), e89204.
    • (2014) PLoS One , vol.9 , Issue.3
    • Greshake, B.1    Bayer, P.E.2    Rausch, H.3    Reda, J.4
  • 18
    • 84863619019 scopus 로고    scopus 로고
    • Risky business: risk perception and the use of medical services among customers of DTC personal genetic testing
    • PID: 22278220
    • Kaufman, D. J., Bollinger, J. M., Dvoskin, R. L., & Scott, J. A. (2012). Risky business: risk perception and the use of medical services among customers of DTC personal genetic testing. Journal of Genetic Counseling, 21(3), 413–422.
    • (2012) Journal of Genetic Counseling , vol.21 , Issue.3 , pp. 413-422
    • Kaufman, D.J.1    Bollinger, J.M.2    Dvoskin, R.L.3    Scott, J.A.4
  • 19
    • 84990849776 scopus 로고    scopus 로고
    • Ancestry testing and the practice of genetic counseling
    • PID: 27704392
    • Kirkpatrick, B. E., & Rashkin, M. D. (2017). Ancestry testing and the practice of genetic counseling. Journal of Genetic Counseling, 26(1), 6–20.
    • (2017) Journal of Genetic Counseling , vol.26 , Issue.1 , pp. 6-20
    • Kirkpatrick, B.E.1    Rashkin, M.D.2
  • 20
    • 84976904305 scopus 로고    scopus 로고
    • ClinVar: public archive of interpretations of clinically relevant variants
    • PID: 26582918
    • Landrum, M. J., Lee, J. M., Benson, M., Brown, G., Chao, C., Chitipiralla, S., et al. (2016). ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Research, 44(D1), D862–D868.
    • (2016) Nucleic Acids Research , vol.44 , Issue.D1 , pp. D862-D868
    • Landrum, M.J.1    Lee, J.M.2    Benson, M.3    Brown, G.4    Chao, C.5    Chitipiralla, S.6
  • 21
    • 85049721395 scopus 로고    scopus 로고
    • LiveWello. (n.d.). Genetics tools. Retrieved Jan 6, 2018, from https://livewello.com/genetics.
    • Genetics tools
  • 22
    • 84939980834 scopus 로고    scopus 로고
    • The lifestylisation of healthcare? “Consumer genomics” and mobile health as technologies for healthy lifestyle
    • PID: 26937349
    • Lucivero, F., & Prainsack, B. (2015). The lifestylisation of healthcare? “Consumer genomics” and mobile health as technologies for healthy lifestyle. Applied and Translational Genomics, 4, 44–49.
    • (2015) Applied and Translational Genomics , vol.4 , pp. 44-49
    • Lucivero, F.1    Prainsack, B.2
  • 23
    • 84892921429 scopus 로고    scopus 로고
    • Raw personal data: providing access
    • PID: 24458627
    • Lunshof, J., Church, G., & Prainsack, B. (2014). Raw personal data: providing access. Science, 343(6169), 373–374.
    • (2014) Science , vol.343 , Issue.6169 , pp. 373-374
    • Lunshof, J.1    Church, G.2    Prainsack, B.3
  • 24
    • 84907432158 scopus 로고    scopus 로고
    • Gatekeepers or intermediaries? The role of clinicians in commercial genomic testing
    • PID: 25259512
    • McGowan, M. L., Fishman, J. R., Settersten, R. A., Lambrix, M. A., & Juengst, E. T. (2014). Gatekeepers or intermediaries? The role of clinicians in commercial genomic testing. PLoS One, 9(9), e108484.
    • (2014) PLoS One , vol.9 , Issue.9
    • McGowan, M.L.1    Fishman, J.R.2    Settersten, R.A.3    Lambrix, M.A.4    Juengst, E.T.5
  • 25
    • 66149163338 scopus 로고    scopus 로고
    • In need of a reality check
    • PID: 19430442
    • Murphy, S. (2009). In need of a reality check. Nature Biotechnology, 27(5), 422–422.
    • (2009) Nature Biotechnology , vol.27 , Issue.5 , pp. 422
    • Murphy, S.1
  • 26
    • 84994627897 scopus 로고    scopus 로고
    • Geneticists should offer data to participants
    • PID: 27808206
    • Nelson, S. (2016). Geneticists should offer data to participants. Nature, 539(7627), 7–7.
    • (2016) Nature , vol.539 , Issue.7627 , pp. 7
    • Nelson, S.1
  • 27
    • 85049720388 scopus 로고    scopus 로고
    • Retrieved Aug 12, 2017, from
    • Open Humans. (n.d.). Retrieved Aug 12, 2017, from www.openhumans.org.
    • Humans, O.1
  • 31
    • 84899866406 scopus 로고    scopus 로고
    • Consuming genomics: regulating direct-to-consumer genetic and genomic information
    • Spector-Bagdady, K., & Pike, E. (2014). Consuming genomics: regulating direct-to-consumer genetic and genomic information. Nebraska Law Review, 92(4), 677–745.
    • (2014) Nebraska Law Review , vol.92 , Issue.4 , pp. 677-745
    • Spector-Bagdady, K.1    Pike, E.2
  • 32
    • 57649166588 scopus 로고    scopus 로고
    • The on-line promotion and sale of nutrigenomic services
    • PID: 18941418
    • Sterling, R. (2008). The on-line promotion and sale of nutrigenomic services. Genetics in Medicine, 10(11), 784–796.
    • (2008) Genetics in Medicine , vol.10 , Issue.11 , pp. 784-796
    • Sterling, R.1
  • 33
    • 85049718631 scopus 로고    scopus 로고
    • Retrieved Aug 27, 2017, from, The Precision Medicine Initiative NIH
    • The Precision Medicine Initiative NIH. (2017). Return of genetic results in the All of Us Research Program. Retrieved Aug 27, 2017, from https://www.nih.gov/sites/default/files/research-training/initiatives/pmi/return-of-results-agenda-0306-0717.pdf
    • (2017) Return of genetic results in the All of Us Research Program
  • 34
    • 85049718420 scopus 로고    scopus 로고
    • Individuals’ right under HIPAA to access their health information 45 CFR § 164.524. Retrieved Sept 21, 2017
    • U.S. DHHS. (2016). Individuals’ right under HIPAA to access their health information 45 CFR § 164.524. Retrieved Sept 21, 2017, from http://www.hhs.gov/hipaa/for-professionals/privacy/guidance/access/index.html.
    • (2016) from
    • Dhhs, U.1
  • 36
    • 84861915897 scopus 로고    scopus 로고
    • Tilting at windmills no longer: a data-driven discussion of DTC DNA ancestry tests
    • PID: 22382803
    • Wagner, J. K., Cooper, J. D., Sterling, R., & Royal, C. D. (2012). Tilting at windmills no longer: a data-driven discussion of DTC DNA ancestry tests. Genetics in Medicine, 14(6), 586–593.
    • (2012) Genetics in Medicine , vol.14 , Issue.6 , pp. 586-593
    • Wagner, J.K.1    Cooper, J.D.2    Sterling, R.3    Royal, C.D.4
  • 38
    • 84891790401 scopus 로고    scopus 로고
    • The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
    • PID: 24316577
    • Welter, D., MacArthur, J., Morales, J., Burdett, T., Hall, P., Junkins, H., et al. (2014). The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Research, 42(Database issue), D1001–D1006.
    • (2014) Nucleic Acids Research , vol.42 , Issue.Database issue , pp. D1001-D1006
    • Welter, D.1    MacArthur, J.2    Morales, J.3    Burdett, T.4    Hall, P.5    Junkins, H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.