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13 - Development of the Personal Genomics Industry

Published online by Cambridge University Press:  06 October 2017

Susan Bouregy
Affiliation:
Yale University, Connecticut
Elena L. Grigorenko
Affiliation:
Yale University, Connecticut
Stephen R. Latham
Affiliation:
Yale University, Connecticut
Mei Tan
Affiliation:
University of Texas, Houston
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Publisher: Cambridge University Press
Print publication year: 2017

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References

23andMe, Inc. (2014a). Genetic kit for ancestry. Retrieved September 21, 2014, from www.23andme.com/Google Scholar
23andMe, Inc. (2014b). Availablility in the state of New York. Retrieved October 17, 2014, from https://customercare.23andme.com/hc/en-us/articles/202907950-Availablility-in-the-state-of-New-YorkGoogle Scholar
American College of Medical Genetics Directors. (2004). ACMG statement on direct-to-consumer genetic testing. Genetics in Medicine, 6(1), 60.Google Scholar
Afarian, C. (2013). 23andMe, Inc. provides update on FDA regulatory review [Press release]. Retrieved October 9, 2014, from http://mediacenter.23andme.com/blog/2013/12/05/23andme-inc-provides-update-on-fda-regulatory-review/Google Scholar
AIBiotech. (2011). Maximize Performance, Identify Undiagnosed Risk Factors – Test Enables Individuals to Customize Workout Programs Based on Genetic Results [Press Release]. Retrieved June 12, 2017, from www.prnewswire.com/news-releases/new-genetic-test-helps-athletes-maximize-performance-identify-undiagnosed-risk-factors-120795914.htmlGoogle Scholar
Ambry Genetics. (2013). Ambry Genetics launches BRCA 1 & 2: Single genes and NGS panel offerings [Press release]. Retrieved October 9, 2014, from www.ambrygen.com/press-releases/ambry-genetics-launches-brca-1-2-single-genes-and-ngs-panel-offeringsGoogle Scholar
Amgen. (2012). Amgen to acquire deCODE Genetics, a global leader in human genetics [Press release]. Retrieved October 9, 2014, from www.amgen.com/media/media_pr_detail.jsp?releaseID=1765710Google Scholar
Ancestry. (2014). DNA tests for ethnicity & genealogical DNA testing at Ancestry DNA. Retrieved October 7, 2014, from https://dna.ancestry.com/Google Scholar
Ass’n for Molecular Pathology v. Myriad Genetics, Inc., 133 S.Ct. 2107 (2013).Google Scholar
Battelle, T. P. P. (2013). The impact of genomics on the U.S. economy. Prepared by Battelle Technology Partnership Practice for United for Medical Research.Google Scholar
Berman Institute of Bioethics, Genetics and Pulic Policy Center, & Johns Hopkins University. (2007). Survey of direct-to-consumer testing statutes and regulations. Retrieved October 14, 2014, from www.dnapolicy.org/resources/DTCStateLawChart.pdfGoogle Scholar
Bloss, C. S., Schork, N. J., & Topol, E. J. (2011). Effect of direct-to-consumer genomewide profiling to assess disease risk. New England Journal of Medicine, 364(6), 524534. doi:10.1056/NEJMoa1011893Google Scholar
Borry, P. (2008). Europe to ban direct-to-consumer genetic tests? Nature Biotechnology, 26(7), 736737.CrossRefGoogle ScholarPubMed
Borry, P., van Hellemondt, R. E., Sprumont, D., Jales, C. F. D., Rial-Sebbag, E., Spranger, T. M., et al. (2012). Legislation on direct-to-consumer genetic testing in seven European countries. European Journal of Human Genetics, 20(7), 715721.Google Scholar
Cancer Voices Australia v Myriad Inc [2014] FCAFC, 115 (2014).Google Scholar
Cariaso, M., & Lennon, G. (2012). SNPedia: A wiki supporting personal genome annotation, interpretation and analysis. Nucleic Acids Research, 40, D1308–1312. doi:10.1093/nar/gkr798Google Scholar
Centers for Medicare & Medicaid Services. (2014). Direct Access Testing (DAT) and the Clinical Laboratory Improvement Amendments (CLIA) Regulations. Retrieved October 10, 2014, from www.cms.gov/Regulations-and-Guidance/Legislation/CLIA/Downloads/directaccesstesting.pdfGoogle Scholar
Chadwick, R. (1999). The Icelandic database – Do modern times need modern sagas? BMJ, 319(7207), 441444.Google Scholar
Chandrasekharan, S., Heaney, C., James, T., Conover, C., & Cook-Deegan, R. (2010). Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis. Genet Med, 12(1), S194211.Google Scholar
Clinton, B. (2000). Text of remarks on the completion of the first survey of the entire Human Genome Project. Retrieved September 15, 2014, from http://clinton5.nara.gov/WH/New/html/genome-20000626.htmlGoogle Scholar
Collier, R. (2012). Genetic tests for athletic ability: Science or snake oil? Canadian Medical Association Journal, 184(1), E4344. doi:10.1503/cmaj.109–4063Google Scholar
Contreras, J. L. (2011). Bermuda’s Legacy: Policy, patents and the design of the Genome Commons. Minnesota Journal of Law, Science & Technology, 12, 61.Google Scholar
CrunchBase. (2014). 23andMe – Investors. Retrieved October 7, 2014, from www.crunchbase.com/organization/23andme/investorsGoogle Scholar
Cystic Fibrosis Foundation. (2014). About CF: What is cystic fibrosis? Retrieved October 12, 2014, from www.cff.org/aboutcf/Google Scholar
Davies, K. (2010). The $1,000 genome: The revolution in DNA sequencing and the new era of personalized medicine. New York: Simon and Schuster.Google Scholar
deCODE Genetics, Inc. (2007). deCODE launches deCODEme™ [Press release]. Retrieved October 9, 2014, from www.decode.com/decode-launches-decodeme/Google Scholar
Demaine, L. J. F., & Xavier, A. (2002). Reinventing the double helix: A novel and nonobvious reconceptualization of the biotechnology patent. Stanford Law Review, 55, 303.CrossRefGoogle ScholarPubMed
Dick, H. C. (2012). Risk and responsibility: State regulation and enforcement of the direct-to-consumer genetic testing industry. St. Louis University Journal of Health Law & Policy, 6(1).Google Scholar
Dickinson, B. (2008). How much can you learn from a home DNA test? Discover Magazine. Retrieved September 23, 2014, from http://discovermagazine.com/2008/sep/20-how-much-can-you-learn-from-a-home-dna-testGoogle Scholar
Dudley, J. T. K., & Konrad, J. (2013). Personal genomics and the environment. Exploring personal genomics (Kindle ed., pp. Kindle location 4178). Oxford, UK: Oxford University Press.Google Scholar
Durham, S. (1997). E. coli genome reported [Press release]. Retrieved March 8, 2015, from www.nih.gov/news/pr/sept97/nhgra-04.htmGoogle Scholar
Eisenberg, A. (2013). Genomic analysis, the office edition. The New York Times. Retrieved October 7, 2014, from www.nytimes.com/2013/02/03/business/knomes-new-machine-to-aid-labs-in-genomic-analysis.html?_r=0Google Scholar
Family Tree DNA. (2014). Family tree DNA. Retrieved October 14, 2014, from www.familytreedna.com/Google Scholar
Federal Trade Commission. (2014). Direct-to-consumer genetic tests. Health & Fitness: Treatment & Cures. Retrieved October 17, 2014, from www.consumer.ftc.gov/articles/0166-direct-consumer-genetic-testsGoogle Scholar
Feuk, L., Carson, A. R., & Scherer, S. W. (2006). Structural variation in the human genome. Nature Reviews Genetics, 7(2), 8597.CrossRefGoogle ScholarPubMed
GeneTests. (2014). GeneTests. Retrieved September 15, 2014, from www.genetests.org/Google Scholar
Genetic Genie. (2015). Methylation and detox analysis from 23andMe results. Retrieved March 22, 2015, from http://geneticgenie.org/Google Scholar
Genetics Home Reference. (2014a). What are single nucleotide polymorphisms (SNPs) – Genetics home reference. Retrieved October 17, 2014, from http://ghr.nlm.nih.gov/handbook/genomicresearch/snpGoogle Scholar
Genetics Home Reference. (2014b). Genetics home reference handbook: Help me understand genetics. Lister Hill National Center for Biomedical Communications, US National Library of Medicine. Retrieved October 17, 2014, from http://ghr.nlm.nih.gov/handbook.pdf.Google Scholar
Gollust, S. E., Hull, S., & Wilfond, B. S. (2002). Limitations of direct-to-consumer advertising for clinical genetic testing. JAMA, 288(14), 17621767. doi:10.1001/jama.288.14.1762Google Scholar
Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., et al. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 15(7), 565574. doi:10.1038/gim.2013.73Google Scholar
Gruber, K. (2014). Google for genomes. Nature Biotechnology, 32(6), 508. doi:10.1038/nbt0614-508aGoogle Scholar
Gurwitz, D., & Bregman-Eschet, Y. (2009). Personal genomics services: Whose genomes. European Journal of Human Genetics, 17(7), 883889.Google Scholar
Hall, J. (2007). Navigenics launches with preeminent team of advisers, partners and investors [Press release]. Retrieved October 9, 2014, from http://investor.affymetrix.com/phoenix.zhtml?c=116408&p=irol-newsArticle&ID=1073452&highlight=Google Scholar
Hanahan, E., & Kranhold, P. (2007). 23andMe launches web-based service empowering individuals to access and understand their own genetic information [Press release]. Retrieved October 9, 2014, from http://mediacenter.23andme.com/press-releases/23andme-launches-web-based-service-empowering-individuals-to-access-and-understand-their-own-genetic-information/Google Scholar
Herper, M. (2015). Surprise! With $60 million Genentech deal, 23andMe has a business plan – Forbes. Retrieved March 23, 2015, from www.forbes.com/sites/matthewherper/2015/01/06/surprise-with-60-million-genentech-deal-23andme-has-a-business-plan/Google Scholar
Holden, A., L. (2002). The SNP Consortium: Summary of a private consortium effort to develop an applied map of the human genome. BioTechniques, 32, 2226.Google Scholar
Illumina. (2014). Illumina introduces the HiSeq X™ Ten Sequencing System [Press release]. Retrieved October 9, 2014, from http://investor.illumina.com/phoenix.zhtml?c=121127&p=irol-newsArticle&ID=1890696&highlight=Google Scholar
Imai, K., Kricka, L. J., & Fortina, P. (2011). Concordance study of 3 direct-to-consumer genetic-testing services. Clinical Chemistry, 57(3), 518521. doi:10.1373/clinchem.2010.158220Google Scholar
Issa, J. P. (2002). Epigenetic variation and human disease. Journal of Nutrition, 132(8), 2388S2392S.Google Scholar
Jasny, B. (2013). Realities of data sharing using the genome wars as case study – An historical perspective and commentary. EPJ Data Science, 2(1), 1.CrossRefGoogle Scholar
Javitt, G. H., & Carner, K. S. (2014). Regulation of next generation sequencing. Journal of Law, Medicine & Ethics, 42(s1), 921. doi:10.1111/jlme.12159Google Scholar
Jia, H. (2014). China’s watchdog clamps down on genome sequencing services. Nat Biotech, 32(6), 511. doi:10.1038/nbt0614-511Google Scholar
Kaiser, J. (2005). Celera to end subscriptions and give data to public GenBank. Science, 308(5723), 775. doi:10.1126/science.308.5723.775aCrossRefGoogle ScholarPubMed
Kalf, R. R. J., Mihaescu, R., Kundu, S., de Knijff, P., Green, R. C., & Janssens, A. C. J. W. (2014). Variations in predicted risks in personal genome testing for common complex diseases. Genet Med, 16(1), 8591. doi:10.1038/gim. 2013.80Google Scholar
Kalokairinou, L., Howard, H. C., & Borry, P. (2014). Changes on the horizon for consumer genomics in the EU. Science, 346(6207), 296298.Google Scholar
Kaphingst, K. A., McBride, C. M., Wade, C., Alford, S. H., Reid, R., Larson, E., et al. (2012). Patients’ understanding of and responses to multiplex genetic susceptibility test results. Genetics in Medicine, 14(7), 681687.Google Scholar
Karczewski, K. J., Tirrell, R. P., Cordero, P., Tatonetti, N. P., Dudley, J. T., Salari, K., … Kim, S. K. (2012). Interpretome: A Freely Available, Modular, And Secure Personal Genome Interpretation Engine. Pacific Symposium on Biocomputing, 339350.Google Scholar
Khoury, M. J., McBride, C. M., Schully, S. D., Ioannidis, J. P. A., Feero, W. G., Janssens, A. C. J. W., et al. (2009). The scientific foundation for personal genomics: Recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genetics in Medicine, 11(8), 559567.Google Scholar
Knome, Inc. (2014). About – Knome. Retrieved October 23, 2014, from www.knome.com/about/Google Scholar
Konrad, J. K., Robert, P. T., Pablo, C., Nicholas, P. T., Joel, T. D., Keyan, S., et al. (2012). K. I. M. Interpretome: A freely available, modular, and secure personal genome interpretation engine. Biocomputing, 339350.Google Scholar
Kutz, G. (2010). Direct-to-consumer genetic tests: Misleading test results are further complicated by deceptive marketing and other questionable practices (GAO-10-847T). US Government Accountability Office. Retrieved October 14, 2014, from www.gao.gov/assets/130/125079.pdfGoogle Scholar
Kutz, G. D. (2006). Tests purchased from four web sites mislead consumers (GAO-06-977T). Retrieved October 14, 2014, from www.gao.gov/products/GAO-06-977TGoogle Scholar
LabCorp, Inc. (2013). LabCorp to offer BRCAssureSM breast cancer mutation tests [Press release]. Retrieved October 14, 2014, from http://phx.corporate-ir.net/phoenix.zhtml?c=84636&p=irol-newsArticle&ID=1881008Google Scholar
Langreth, R. H. M. (2008). States crack down on online gene tests. Retrieved October 8, 2014, from www.forbes.com/2008/04/17/genes-regulation-testing-biz-cx_mh_bl_0418genes.htmlGoogle Scholar
Lauerman, J. (2009). Complete genomics drives down cost of genome sequence to $5,000. Retrieved October 9, 2014, from www.bloomberg.com/apps/news?pid=newsarchive&sid=aEUlnq6ltPpQGoogle Scholar
Livewello. (2015). Homepage. Retrieved March 22, 2015, from https://livewello.com/Google Scholar
MacDonald, M. E., Ambrose, C. M., Duyao, M. P., Myers, R. H., Lin, C., Srinidhi, L., et al. (1993). A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell, 72(6), 971983. doi:10.1016/0092-8674(93)90585-EGoogle Scholar
Magnus, D., Cho, M., & Cook-Deegan, R. (2009). Direct-to-consumer genetic tests: Beyond medical regulation? Genome Medicine, 1(2), 17.Google Scholar
Marshall, E. (2000). Storm erupts over terms for publishing Celera’s sequence. Science, 290(5499), 20422043. doi:10.1126/science.290.5499.2042CrossRefGoogle ScholarPubMed
Marshall, E. (2001a). Bermuda rules: Community spirit, with teeth. Science, 291(5507), 1192. doi:10.1126/science.291.5507.1192Google Scholar
Marshall, E. (2001b). Sharing the glory, not the credit. Science, 291(5507), 11891193. doi:10.1126/science.291.5507.1189Google Scholar
Matthijs, G., Huys, I., Van Overwalle, G., & Stoppa-Lyonnet, D. (2013). The European BRCA patent oppositions and appeals: Coloring inside the lines. Nature Biotechnology, 31(8), 704710. doi:10.1038/nbt.2644Google Scholar
McGuire, A. L., Evans, B. J., Caulfield, T., & Burke, W. (2010). Regulating direct-to-consumer personal genome testing. Science, 330(6001), 181182.Google Scholar
Mullis, K. B., Erlich, H. A., Arnheim, N., Horn, G. T., Saiki, R. K., & Scharf, S. J. (1987). One of the first polymerase chain reaction (PCR) patents. US4683195.Google Scholar
Murry, J. (1999). Owning genes: Disputes involving DNA sequence patents. Chicago Kent Law Review, 75, 231.Google Scholar
National Human Genome Research Institute. (2014a). FAQ about genetic and genomic science. Retrieved March 22, 2015, from www.genome.gov/19016904#al-2Google Scholar
National Human Genome Research Institute. (2014b). Regulation of genetic tests. Retrieved October 13, 2014, from www.genome.gov/10002335Google Scholar
Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., et al. (2009). Targeted capture and massively parallel sequencing of 12 human exomes. Nature, 461(7261), 272276.Google Scholar
Phillips, A. M. (2015). Think before you click: Ordering a genetic test online. SciTech Lawyer, 11(2).Google Scholar
Pollack, A. (2008). Gene testing questioned by regulators. The New York Times. Retrieved October 8, 2014, from www.nytimes.com/2008/06/26/business/26gene.htmlGoogle Scholar
Promethease. (2014). Homepage. Retrieved October 7, 2014, from https://promethease.comGoogle Scholar
Rai, A. K., & Cook-Deegan, R. (2013). Moving beyond “isolated” gene patents. Science, 341(6142), 137138. doi:10.1126/science.1242217Google Scholar
Regalado, A. (2014). How a wiki is keeping direct-to-consumer genetics alive. The year in review: Health care. MIT Technology Review. Retrieved March 22, 2015, from www.technologyreview.com/featuredstory/531461/how-a-wiki-is-keeping-direct-to-consumer-genetics-alive/Google Scholar
Roberts, L. (2001). Controversial from the start. Science, 291(5507), 11821188. doi:10.1126/science.291.5507.1182aGoogle Scholar
Rommens, J. M., Iannuzzi, M. C., Kerem, B., Drumm, M. L., Melmer, G., Dean, M., et al. (1989). Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science, 245(4922), 10591065. doi:10.1126/science. 2772657Google Scholar
Skeehan, K., Heaney, C., & Cook-Deegan, R. (2010). Impact of gene patents and licensing practices on access to genetic testing for Alzheimer disease. Genetics in Medicine, 12(1s), S7182.Google Scholar
SNPedia. (2014). Homepage. Retrieved October 7, 2014, from www.snpedia.com/index.phpGoogle Scholar
Spicer, D. (2008). Evidence Based Nutrition, Inc., first to offer Sciona MyCellf™ DNA personalized genetics analysis kit to chiropractors [Press release]. Retrieved October 9, 2014, from www.reuters.com/article/2008/02/19/idUS155080+19-Feb-2008+BW20080219Google Scholar
Sweeney, B. (2010). Navigenics receives state of New York clinical laboratory permit [Press release]. Retrieved October 14, 2014, from www.businesswire.com/news/home/20100112005741/en/Navigenics-Receives-State-York-Clinical-Laboratory-PermitGoogle Scholar
The Associated Press. (2009). Germany limits genetic testing. Retrieved October 9, 2014, from www.utsandiego.com/news/2009/apr/24/eu-germany-genetic-testing-042409/Google Scholar
Thompson, J., & Milos, P. (2011). The properties and applications of single-molecule DNA sequencing. Genome Biology, 12(2), 217.Google Scholar
TIME Magazine. (2008). The retail DNA test – Best inventions of 2008. Retrieved September 21, 2014, from http://content.time.com/time/specials/packages/article/0,28804,1852747_1854493_1854113,00.htmlGoogle Scholar
US Food and Drug Administration. (2010). In vitro diagnostics – FDA. Retrieved September 24, 2014, from www.fda.gov/MedicalDevices/ProductsandMedicalProcedures/InVitroDiagnostics/default.htmGoogle Scholar
US Food and Drug Administration. (2015). FDA permits marketing of first direct-to-consumer genetic carrier test for Bloom syndrome [Press release]. Retrieved March 9, 2015, from www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/UCM435003Google Scholar
Vayena, E., & Prainsack, B. (2013). The challenge of personal genomics in Germany. Nature Biotechnology, 31(1), 1617.Google Scholar
Watson, J. D., & Jordan, E. (1989). The human genome program at the National Institutes of Health. Genomics, 5(3), 654656. doi:10.1016/0888-7543(89) 90040–2Google Scholar
Wade, N. (2000). Genetic code of human life is cracked by scientists. The New York Times. Retrieved October 6, 2014, from http://partners.nytimes.com/library/national/science/062700sci-genome.htmlGoogle Scholar
Wells, S. (2005). The Genographic Project. Retrieved September 21, 2014, from https://genographic.nationalgeographic.com/about/Google Scholar
Wetterstrand, K. A. (2014). DNA sequencing costs: Data from the NHGRI Genome Sequencing Program (GSP). Retrieved October 7, 2014, from www.genome.gov/sequencingcosts/Google Scholar
Wiechers, I., Perin, N., & Cook-Deegan, R. (2013). The emergence of commercial genomics: Analysis of the rise of a biotechnology subsector during the Human Genome Project, 1990 to 2004. Genome Medicine, 5(9), 83.Google Scholar
Youngblom, E. K. J. (2014). Familial hypercholesterolemia. In Youngblom, E., Pariani, M., & Knowles, J. W. (Eds.), GeneReviews. Seattle, WA: University of Washington. Retrieved October 9, 2014, from www.ncbi.nlm.nih.gov/books/NBK174884/Google Scholar

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