1932

Abstract

The Human Genome Project modeled its open science ethos on nematode biology, most famously through daily release of DNA sequence data based on the 1996 Bermuda Principles. That open science philosophy persists, but daily, unfettered release of data has had to adapt to constraints occasioned by the use of data from individual people, broader use of data not only by scientists but also by clinicians and individuals, the global reach of genomic applications and diverse national privacy and research ethics laws, and the rising prominence of a diverse commercial genomics sector. The Global Alliance for Genomics and Health was established to enable the data sharing that is essential for making meaning of genomic variation. Data-sharing policies and practices will continue to evolve as researchers, health professionals, and individuals strive to construct a global medical and scientific information commons.

Loading

Article metrics loading...

/content/journals/10.1146/annurev-genom-083115-022515
2017-08-31
2024-06-24
Loading full text...

Full text loading...

/deliver/fulltext/genom/18/1/annurev-genom-083115-022515.html?itemId=/content/journals/10.1146/annurev-genom-083115-022515&mimeType=html&fmt=ahah

Literature Cited

  1. 1. ACMG Board Dir. 2017. Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics. Genet. Med. 19:721–22 [Google Scholar]
  2. Adams MD, Kelley JM, Gocayne JD, Dubnick M, Polymeropoulos MH. 2.  et al. 1991. Complementary DNA sequencing: expressed sequence tags and the Human Genome Project. Science 252:1651–56 [Google Scholar]
  3. Adams MD, Sutton GG, Smith HO, Myers EW, Venter JC. 3.  2003. The independence of our genome assemblies. PNAS 100:3025–26 [Google Scholar]
  4. Adams MD, Venter JC. 4.  1996. Should non-peer-reviewed raw DNA sequence data release be forced on the scientific community?. Science 274:534–36 [Google Scholar]
  5. Adler R. 5.  1992. Genome research: fulfilling the public's expectations for knowledge and commercialization science. Science 257:908–14 [Google Scholar]
  6. Anderlik MR, Rothstein MA. 6.  2001. Privacy and confidentiality of genetic information: what rules for the new science?. Annu. Rev. Genom. Hum. Genet. 2:401–33 [Google Scholar]
  7. Anderson A. 7.  1992. Yeast genome project: 300,000 and counting. Science 256:462 [Google Scholar]
  8. Angier N. 8.  1994. Fierce competition marked fervid race for cancer gene. New York Times Sept. 20 C3 http://www.nytimes.com/1994/09/20/science/fierce-competition-marked-fervid-race-for-cancer-gene.html [Google Scholar]
  9. Angrist M. 9.  2009. Eyes wide open: the Personal Genome Project, citizen science and veracity in informed consent. Pers. Med. 6:691–99 [Google Scholar]
  10. Angrist M. 10.  2010. Here Is a Human Being: At the Dawn of Personal Genomics New York: HarperCollins [Google Scholar]
  11. Ankeny RA, Leonelli S. 11.  2015. Valuing data in postgenomic biology: how data donation and curation practices challenge the scientific publication system. Postgenomics: Perspectives on Biology After the Genome SS Richardson, H Stevens 126–49 Durham, NC: Duke Univ. Press [Google Scholar]
  12. Arias JJ, Pham-Kanter G, Campbell EG. 12.  2015. The growth and gaps of genetic data sharing policies in the United States. J. Law Biosci. 2:56–68 [Google Scholar]
  13. Baldwin AL, Cook-Deegan R. 13.  2013. Constructing narratives of heroism and villainy: case study of Myriad's BRACAnalysis® compared to Genentech's Herceptin®. Genome Med 5:8 [Google Scholar]
  14. Balter M. 14.  1998. France's sequencers aim to join the big league. Science 280:30–31 [Google Scholar]
  15. 15. Baylor Coll. Med. 2016. Information commons https://www.bcm.edu/centers/medical-ethics-and-health-policy/research/elsi-research/information-commons [Google Scholar]
  16. Bean LJ, Tinker SW, da Silva C, Hegde MR. 16.  2013. Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Hum. Mutat. 34:1183–88 [Google Scholar]
  17. Bentley DR. 17.  1996. Genomic sequence information should be released immediately and freely in the public domain. Science 274:533–34 [Google Scholar]
  18. Bentley DR, Pruitt KD, Deloukas P, Schuler GD, Ostell J. 18.  1998. Coordination of human genome sequencing via a consensus framework map. Trends Genet 14:381–84 [Google Scholar]
  19. Béroud C, Letovsky SI, Braastad CD, Caputo SM, Beaudoux O. 19.  et al. 2016. BRCA Share: a collection of clinical BRCA gene variants. Hum. Mutat. 37:1318–28 [Google Scholar]
  20. Brandt KA. 20.  1993. The GDB Human Genome Data Base: a source of integrated genetic mapping and disease data. Bull. Med. Libr. Assoc 81:285–92 [Google Scholar]
  21. Branscomb E. 21.  2011. Interview by Kathryn Maxson and Robert Cook-Deegan, Oct. 17. Duke Univ. Libr., Durham, NC. http://hdl.handle.net/10161/7693
  22. Branum R, Wolf SM. 22.  2015. International policies on sharing genomic research results with relatives: approaches to balancing privacy with access. J. Law Med. Ethics 43:576–93 [Google Scholar]
  23. Burris J, Cook-Deegan R, Alberts B. 23.  1998. The Human Genome Project after a decade: policy issues. Nat. Genet. 20:333–35 [Google Scholar]
  24. 24. C. elegans Seq. Consort. 1998. Genome sequence of the nematode C. elegans: a platform for investigating biology. Science 282:2012–18 [Google Scholar]
  25. Calia KG. 25.  1992. Patentability of expressed sequence tags: a study of the Venter application. Biotechnol. Law Rep. 11:540–57 [Google Scholar]
  26. Cantor CR. 26.  1990. Orchestrating the Human Genome Project. Science 248:49–51 [Google Scholar]
  27. Cheon JY, Mozersky J, Cook-Deegan R. 27.  2014. Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?. Genome Med 6:121 [Google Scholar]
  28. Church GM. 28.  2005. The Personal Genome Project. Mol. Syst. Biol. 1:2005.0030 [Google Scholar]
  29. Clarke L, Zheng-Bradley X, Smith R, Kulesha E, Xiao C. 29.  et al. 2012. The 1000 Genomes Project: data management and community access. Nat. Methods 9:459–62 [Google Scholar]
  30. Collins F. 30.  2012. Interview by Kathryn Maxson and Robert Cook-Deegan, Apr. 12. Duke Univ. Libr., Durham, NC. http://hdl.handle.net/10161/7704
  31. Collins F, Patrinos A. 31.  1997. Letter to Frank Laplace, March 21. Cent. Public Genom. Res. Files, Duke Univ. Libr., Durham, NC. http://hdl.handle.net/10161/7727
  32. Collins F, Patrinos A, Morgan M. 32.  1998. Letter to Kenichi Matsubara, March 9. Cent. Public Genom. Res. Files, Duke Univ. Libr., Durham, NC. http://hdl.handle.net/10161/7737
  33. Collins FS, Green ED, Guttmacher AE, Guyer MS. 33.  2003. A vision for the future of genomics research. Nature 422:835–47 [Google Scholar]
  34. 34. Consort. Law Values Health Environ. Life Sci. 2016. LawSeq: building a sound legal foundation for translating genomics into clinical application https://consortium.umn.edu/research/lawseq-building-sound-legal-foundation-translating-genomics-clinical-application [Google Scholar]
  35. Contreras JL. 35.  2011. Bermuda's legacy: policy, patents. and the design of the genome commons. Minn. J. Law Sci. Technol. 12:61–125 [Google Scholar]
  36. Contreras JL. 36.  2014. Constructing the genome commons. Governing Knowledge Commons BM Frischmann, MJ Madison, KJ Strandburg 99–136 New York: Oxford Univ. Press [Google Scholar]
  37. Contreras JL. 37.  2015. NIH's genomic data sharing policy: timing and tradeoffs. Trends Genet 31:55–57 [Google Scholar]
  38. Contreras JL. 38.  2016. Genetic property. Georgetown Univ. Law J. 105:1–54 [Google Scholar]
  39. Cook-Deegan R. 39.  1994. The Gene Wars: Science, Politics, and the Human Genome New York: Norton [Google Scholar]
  40. Cook-Deegan R, Heaney C. 40.  2010. Patents in genomics and human genetics. Annu. Rev. Genom. Hum. Genet. 11:383–425 [Google Scholar]
  41. 41. Counc. Eur. Comm. Minist. 2006. Recommendation Rec(2006)4 of the Committee of Ministers to member states on research on biological materials of human origin https://search.coe.int/cm/Pages/result_details.aspx?ObjectID=09000016805d84f0 [Google Scholar]
  42. Cozzarelli NR. 42.  2004. UPSIDE: Uniform Principle for Sharing Integral Data and Materials Expeditiously. PNAS 101:3721–22 [Google Scholar]
  43. Curnutte MA, Frumovitz KL, Bollinger JM, McGuire AL, Kaufman DJ. 43.  2014. Development of the clinical next-generation sequencing industry in a shifting policy climate. Nat. Biotechnol. 32:980–82 [Google Scholar]
  44. Davies K, White M. 44.  1996. Breakthrough: The Race to Find the Breast Cancer Gene New York: Wiley & Sons [Google Scholar]
  45. de Chadarevian S. 45.  2002. Designs for Life: Molecular Biology After World War II Cambridge, UK: Cambridge Univ. Press [Google Scholar]
  46. Dickson D. 46.  1994. Merck to back ‘public’ sequencing. Nature 371:365 [Google Scholar]
  47. Dove ES. 47.  2015. Biobanks, data sharing, and the drive for a global privacy governance framework. J. Law Med. Ethics 43:675–89 [Google Scholar]
  48. 48. Editorial. 2014. How to get ahead: The success of the $1,000 genome programme offers lessons for fostering innovation. Nature 507:273–74 [Google Scholar]
  49. Eggington JM, Bowles KR, Moyes K, Manley S, Esterling L. 49.  et al. 2014. A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes. Clin. Genet. 86:229–37 [Google Scholar]
  50. Eisenberg RS. 50.  1990. Patenting the human genome. Emory Law J 39:721–45 [Google Scholar]
  51. Eisenberg RS. 51.  1996. Intellectual property issues in genomics. Trends Biotechnol 14:302–7 [Google Scholar]
  52. Eisenberg RS. 52.  2006. Patents and data-sharing in public science. Ind. Corp. Change 15:1013–31 [Google Scholar]
  53. Eisenberg RS, Merges RP. 53.  1995. Opinion letter as to the patentability of certain inventions associated with the identification of partial cDNA sequences. AIPLA Q. J. 23:1–52 [Google Scholar]
  54. 54. ENCODE Proj. Consort. 2004. The ENCODE (ENCyclopedia Of DNA Elements) Project. Science 306:636–40 [Google Scholar]
  55. 55. GAIN Collab. Res. Group. 2007. New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nat. Genet. 39:1045–51 [Google Scholar]
  56. Garcia-Sancho M. 56.  2012. Biology, Computing, and the History of Molecular Sequencing: From Proteins to DNA, 1945–2000 New York: Palgrave Macmillan [Google Scholar]
  57. 57. Glob. Alliance Genom. Health. 2013. Creating a global alliance to enable responsible sharing of genomic and clinical data White Pap., Glob. Alliance Genom. Health Toronto: http://genomicsandhealth.org/white-paper-creating-global-alliance-enable-responsible-sharing-genomic-and-clinical-data-read-online [Google Scholar]
  58. 58. Glob. Alliance Genom. Health. 2014. Framework for responsible sharing of genomic and health-related data Framew. Doc., Glob. Alliance Genom. Health Toronto: https://genomicsandhealth.org/about-the-global-alliance/key-documents/framework-responsible-sharing-genomic-and-health-related-data [Google Scholar]
  59. 59. Glob. Alliance Genom. Health. 2017. About the Global Alliance http://genomicsandhealth.org/about-global-alliance [Google Scholar]
  60. 60. Glob. Alliance Genom. Health. 2017. Beacon project http://ga4gh.org/#/beacon [Google Scholar]
  61. Goffeau A, Barrell BG, Bussey H, Davis RW, Dujon B. 61.  et al. 1996. Life with 6000 genes. Science 274:546563–67 [Google Scholar]
  62. Gold ER, Carbone J. 62.  2010. Myriad Genetics: in the eye of the policy storm. Genet. Med. 12:S39–70 [Google Scholar]
  63. Greely HT. 63.  2007. The uneasy ethical and legal underpinnings of large-scale genomic biobanks. Annu. Rev. Genom. Hum. Genet. 8:343–64 [Google Scholar]
  64. Green ED, Watson JD, Collins FS. 64.  2015. Human Genome Project: twenty-five years of big biology. Nature 526:29–31 [Google Scholar]
  65. Guyer M. 65.  1998. Statement on the rapid release of genomic DNA sequence. Genome Res 8:413 [Google Scholar]
  66. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA. 66.  et al. 1990. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250:1684–89 [Google Scholar]
  67. Hardin G. 67.  1968. The tragedy of the commons. Science 162:1243–48 [Google Scholar]
  68. Hardin G. 68.  1998. Extensions of “The Tragedy of the Commons.”. Science 280:682–83 [Google Scholar]
  69. Harris R, Dixon B. 69.  2001. Genome jousting enlivens a sporting lull. Curr. Biol. 11:R202–3 [Google Scholar]
  70. Harrison SM, Riggs ER, Maglott DR, Lee JM, Azzariti DR. 70.  et al. 2016. Using ClinVar as a resource to support variant interpretation. Curr. Protoc. Hum. Genet. 89:1–23 [Google Scholar]
  71. Hawkins N. 71.  2012. An exception to infringement for genetic testing—addressing patient access and divergence between law and practice. Int. Rev. Intellect. Prop. Compet. Law 43:641–61 [Google Scholar]
  72. Hayden EC. 72.  2014. The $1,000 genome. Nature 507:294–95 [Google Scholar]
  73. Healy B. 73.  1992. Special report on gene patenting. N. Engl. J. Med. 327:664–68 [Google Scholar]
  74. Hess C, Ostrom E. 74.  2007. Understanding Knowledge as a Commons: From Theory to Practice Cambridge, MA: MIT Press [Google Scholar]
  75. Hilgartner S. 75.  1998. Data access policy in genome research. Private Science: Biotechnology and the Rise of the Molecular Sciences A Thackeray 202–18 Philadelphia: Univ. Pa. Press [Google Scholar]
  76. Hilgartner S, Brandt-Rauf SI. 76.  1994. Data access, ownership, and control. Knowl. Creat. Diffus. Util. 15:355–72 [Google Scholar]
  77. Holden AL. 77.  2002. The SNP Consortium: summary of a private consortium effort to develop and applied map of the human genome. BioTechniques 32:S22–26 [Google Scholar]
  78. Holtzman NA. 78.  1989. Proceed with Caution: Predicting Genetic Risks in the Recombinant DNA Era Baltimore, MD: Johns Hopkins Univ. Press [Google Scholar]
  79. Holtzman NA, Watson MS. 79.  1997. Promoting safe and effective genetic testing in the United States: final report of the Task Force on Genetic Testing Rep., Natl. Inst. Health–Dep. Energy Work. Group Ethical Leg. Soc. Implic. Hum. Genome Res. Washington, DC: [Google Scholar]
  80. Hudson TJ, Stein LD, Gerety SS, Ma J, Castle AB. 80.  et al. 1995. An STS-based map of the human genome. Science 270:1945–54 [Google Scholar]
  81. 81.  In re BRCA1- and BRCA2-Based Hereditary Cancer Test Patent Litigation, Case Nos. 2014-1361, 2014-1366 (Fed. Cir., Dec. 17, 2014)
  82. 82. Int. HapMap Consort. 2003. The International HapMap Project. Nature 426:789–96 [Google Scholar]
  83. 83. Int. Hum. Genome Seq. Consort. 2004. Finishing the euchromatic sequence of the human genome. Nature 431:931–45 [Google Scholar]
  84. Istrail S, Sutton GG, Florea L, Halpern AL, Mobarry CM. 84.  et al. 2004. Whole-genome shotgun assembly and comparison of human genome assemblies. PNAS 101:1916–21 [Google Scholar]
  85. Jasanoff S. 85.  2005. Designs on Nature: Science and Democracy in Europe and the United States Princeton, NJ: Princeton Univ. Press [Google Scholar]
  86. Jasanoff S. 86.  2011. Reframing Rights: Bioconstitutionalism in the Genetic Age Cambridge, MA: MIT Press [Google Scholar]
  87. 87. Joint Genome Inst. 2016. History http://jgi.doe.gov/about-us/history [Google Scholar]
  88. Kaye J. 88.  2012. The tension between data sharing and the protection of privacy in genomics research. Annu. Rev. Genom. Hum. Genet. 13:415–31 [Google Scholar]
  89. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC. 89.  et al. 2001. Initial sequencing and analysis of the human genome. Nature 409:860–921 [Google Scholar]
  90. Mailman MD, Feolo M, Jin Y, Kimura M, Tryka K. 90.  et al. 2007. The NCBI dbGaP database of genotypes and phenotypes. Nat. Genet. 39:1181–86 [Google Scholar]
  91. Marshall E. 91.  1995. A strategy for sequencing the genome 5 years early. Science 267:783–84 [Google Scholar]
  92. Marshall E. 92.  2001. Bermuda rules: community spirit, with teeth. Science 291:1192 [Google Scholar]
  93. Martinell J. 93.  1992. Initial rejection of NIH patent application 07/837,195 (EST sequences and methods). Biotechnol. Law Rep. 11:578–96 [Google Scholar]
  94. Matthijs G. 94.  2006. The European opposition against the BRCA gene patents. Fam. Cancer 5:95–102 [Google Scholar]
  95. Maxson Jones K, Ankeny RA, Cook-Deegan R. 95.  Forthcoming. The Bermuda Triangle: the politics, principles, and pragmatics of data sharing in the history of the Human Genome Project. J. Hist. Biol. Accepted, in review [Google Scholar]
  96. McElheny VK. 96.  2010. Drawing the Map of Life: Inside the Human Genome Project New York: Basic [Google Scholar]
  97. McGuire AL, Beskow LM. 97.  2010. Informed consent in genomics and genetic research. Annu. Rev. Genom. Hum. Genet. 11:361–81 [Google Scholar]
  98. McKusick VA, Ruddle FH. 98.  1987. A new discipline, a new name, a new journal. Genomics 1:1–2 [Google Scholar]
  99. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K. 99.  et al. 1994. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. . Science 266:66–71 [Google Scholar]
  100. Murray JC, Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Heddema T. 100.  et al. (Coop. Hum. Link. Cent.). 1994. A comprehensive human linkage map with centimorgan density. Science 265:2049–54 [Google Scholar]
  101. Myers EW, Sutton GG, Smith HO, Adams MD, Venter JC. 101.  2002. On the sequencing and assembly of the human genome. PNAS 99:4145–46 [Google Scholar]
  102. 102. Natl. Hum. Genome Res. Inst. (NHGRI). 1996. NHGRI policy regarding intellectual property of human genomic sequence: policy on availability and patenting of human genome DNA sequence produced by NHGRI pilot projects (funded under RFA HG-95-005) Policy Doc., Apr. 9 NHGRI Bethesda, MD: https://www.genome.gov/10000926 [Google Scholar]
  103. 103. Natl. Hum. Genome Res. Inst. (NHGRI). 1996. Report of the International Strategy Meeting on Human Genome Sequencing held at the Princess Hotel, Southampton, Bermuda, on 25th–28th February 1996. Duke Univ. Libr., Durham, NC. http://hdl.handle.net/10161/7716
  104. 104. Natl. Hum. Genome Res. Inst. (NHGRI). 2000. NHGRI policy for release and database deposition of sequence data Policy Doc., Dec. 21 NHGRI Bethesda, MD: https://www.genome.gov/10000910/policy-on-release-of-human-genomic-sequence-data-2000 [Google Scholar]
  105. 105. Natl. Hum. Genome Res. Inst. (NHGRI). 2003. International consortium completes Human Genome Project News Release, Apr. 14 NHGRI Bethesda, MD: http://www.genome.gov/11006929 [Google Scholar]
  106. 106. Natl. Hum. Genome Res. Inst. (NHGRI). 2009. ENCODE consortia data release, data use, and publication policies Policy Doc. NHGRI Bethesda, MD: https://www.genome.gov/pages/research/encode/mod-encode_consortia_data_release_policy_revised_11-22-09.pdf [Google Scholar]
  107. 107. Natl. Inst. Health (NIH). 2007. Policy for sharing of data obtained in NIH supported or conducted genome-wide association studies (GWAS) http://grants.nih.gov/grants/guide/notice-files/NOT-OD-07-088.html [Google Scholar]
  108. 108. Natl. Inst. Health (NIH). 2014. NIH genomic data sharing policy Not. NOT-OD-14-124 NIH Bethesda, MD: http://grants.nih.gov/grants/guide/notice-files/NOT-OD-14-124.html [Google Scholar]
  109. 109. Natl. Res. Council. 1988. Mapping and Sequencing the Human Genome Washington, DC: Natl. Acad. Press [Google Scholar]
  110. 110. Natl. Res. Council. 2011. Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease Washington, DC: Natl. Acad. Press [Google Scholar]
  111. 111. Off. Technol. Assess. 1984. Human gene therapy: background paper Rep. OTA-BP-BA-32, Off. Technol. Assess. Washington, DC: [Google Scholar]
  112. 112. Off. Technol. Assess. 1988. Mapping our genes—genome projects: how big, how fast? Rep. OTA-BA-373, Off. Technol. Assess. Washington, DC: [Google Scholar]
  113. 113. Off. Technol. Assess. 1994. The Human Genome Project and patenting DNA sequences Rep., Off. Technol. Assess. Washington, DC: https://dukespace.lib.duke.edu/dspace/bitstream/handle/10161/8116/HxDoc_BCD_OTAfulldraft.pdf [Google Scholar]
  114. Olson MV. 114.  1995. A time to sequence. Science 270:394–96 [Google Scholar]
  115. Olson MV. 115.  2002. The Human Genome Project: a player's perspective. J. Mol. Biol. 319:931–42 [Google Scholar]
  116. O'Neill G. 116.  2009. Jacobson speaks: Genetic Technologies and BRCA testing. LabOnline Apr. 3. http://www.labonline.com.au/content/life-scientist/article/jacobson-speaks-genetic-technologies-and-brca-testing-1127244197 [Google Scholar]
  117. 117. Open Hum. 2016. About Open Humans: contribute to research & citizen science! https://www.openhumans.org/about [Google Scholar]
  118. 118. Organ. Econ. Coop. Dev. (OECD). 1980. OECD guidelines on the protection of privacy and transborder flows of personal data Rep. OECD Paris: https://www.oecd.org/sti/ieconomy/oecdguidelinesontheprotectionofprivacyandtransborderflowsofpersonaldata.htm [Google Scholar]
  119. 119. Organ. Econ. Coop. Dev. (OECD). 2009. Guidelines for human biobanks and genetic research databases (HBGRDs) Rep. OECD Paris: http://www.oecd.org/sti/biotechnology/hbgrd [Google Scholar]
  120. 120. Organ. Econ. Coop. Dev. (OECD). 2013. OECD work on privacy http://oe.cd/privacy [Google Scholar]
  121. Ostrom AL. 121.  2015. Service research priorities in a rapidly changing context. J. Serv. Res. 18:127–59 [Google Scholar]
  122. Ostrom E. 122.  1986. An agenda for the study of institutions. Public Choice 48:3–25 [Google Scholar]
  123. Ostrom E. 123.  1990. Governing the Commons: The Evolution of Institutions for Collective Action Cambridge, UK: Cambridge Univ. Press [Google Scholar]
  124. Ostrom E. 124.  2010. The institutional analysis and development framework and the commons. Cornell Law Rev 95:807–16 [Google Scholar]
  125. Ostrom E, Schroeder L, Wynne S. 125.  1993. Institutional Incentives and Sustainable Development: Infrastructure Policies in Perspective Boulder, CO: Westview [Google Scholar]
  126. Park SS. 126.  2014. Gene patents and the public interest: litigating Association for Molecular Pathology v. Myriad Genetics and lessons moving forward. N.C. J. Law Technol. 15:519–36 [Google Scholar]
  127. Parthasarathy S. 127.  2007. Building Genetic Medicine: Breast Cancer, Technology, and the Comparative Politics of Health Care Cambridge, MA: MIT Press [Google Scholar]
  128. Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA. 128.  et al. 2015. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum. Mutat. 36:915–21 [Google Scholar]
  129. Polski MM, Ostrom E. 129.  1999. An institutional framework for policy analysis and design Work. Pap. W98-27, Workshop Polit. Theory Policy Anal., Ind. Univ. Bloomington: https://mason.gmu.edu/∼mpolski/documents/PolskiOstromIAD.pdf [Google Scholar]
  130. Qiang B. 130.  2004. Human genome research in China. J. Mol. Med. 82:214–22 [Google Scholar]
  131. Ray T. 131.  2014. FDA draft LDT guidance slated for release in 60 days; industry readying recommendations, objections. GenomeWeb Aug. 6. https://www.genomeweb.com/clinical-genomics/fda-draft-ldt-guidance-slated-release-60-days-industry-readying-recommendations [Google Scholar]
  132. Ray T. 132.  2015. With BRCA Share, Quest hopes to provide field with variant database to support clinical decisions. GenomeWeb May 5. https://www.genomeweb.com/business-news/brca-share-quest-hopes-provide-field-variant-database-support-clinical-decisions [Google Scholar]
  133. Ray T. 133.  2016. FDA holding off on finalizing regulatory guidance for lab-developed tests. GenomeWeb Nov. 18. https://www.genomeweb.com/molecular-diagnostics/fda-holding-finalizing-regulatory-guidance-lab-developed-tests [Google Scholar]
  134. Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP. 134.  et al. 2015. ClinGen—the Clinical Genome Resource. N. Engl. J. Med. 372:2235–42 [Google Scholar]
  135. Roberts L. 135.  1991. Genome patent fight erupts. Science 254:184–86 [Google Scholar]
  136. Rodriguez H. 136.  2008. International summit on proteomics data release and sharing policy. J. Proteome Res. 7:4609 [Google Scholar]
  137. Rodriguez H, Snyder M, Uhlen M, Andrews P, Beavis R. 137.  et al. 2009. Recommendations from the 2008 international summit on proteomics data release and sharing policy: the Amsterdam principles. J. Proteome Res. 8:3689–92 [Google Scholar]
  138. Rothstein MA, Knoppers BM. 138.  2015. Harmonizing privacy laws to enable international biobank research. J. Law Med. Ethics 43:673–74 [Google Scholar]
  139. Saulnier KM, Joly Y. 139.  2016. Locating biobanks in the Canadian privacy maze. J. Law Med. Ethics 44:7–19 [Google Scholar]
  140. Schuler GD, Boguski MS, Stewart EA, Stein LD, Gyapay G. 140.  et al. 1996. A gene map of the human genome. Science 274:540–46 [Google Scholar]
  141. 141. Secr. Advis. Comm. Genet. Health Soc. (SACGHS). 2008. U.S. system of oversight of genetic testing: a response to the charge of the Secretary of Health and Human Services Rep., SACGHS, US Dep. Health Hum. Serv. Bethesda, MD: [Google Scholar]
  142. Sherkow JS, Greely HT. 142.  2015. The history of patenting genetic material. Annu. Rev. Genet. 49:161–82 [Google Scholar]
  143. Shreeve J. 143.  2004. The Genome War: How Craig Venter Tried to Capture the Code of Life and Save the World New York: Ballantine [Google Scholar]
  144. Simoncelli T, Park S. 144.  2015. Making the case against gene patents. Perspect. Sci. 23:106–45 [Google Scholar]
  145. Smith TF. 145.  1990. The history of the genetic sequence databases. Genomics 6:701–7 [Google Scholar]
  146. Snyder B. 146.  2016. New center to study genomic privacy concerns News Release, May 19 Vanderbilt Univ. Nashville, TN: https://news.vanderbilt.edu/2016/05/19/new-center-to-study-genomic-privacy-concerns [Google Scholar]
  147. Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN. 147.  et al. 2012. ENIGMA—Evidence-based Network for the Interpretation of Germline Mutant Alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Hum. Mutat 33:2–7 [Google Scholar]
  148. Stevens H. 148.  2015. Networking biology: the origins of sequence-sharing practices in genomics. Technol. Cult. 56:839–67 [Google Scholar]
  149. Strandburg KJ, Madison MJ, Frischmann BM. 149.  2017. Governing Medical Knowledge Commons New York: Cambridge Univ. Press [Google Scholar]
  150. Strasser BJ. 150.  2011. The experimenter's museum: GenBank, natural history, and the moral economies of biomedicine. Isis 102:60–69 [Google Scholar]
  151. Sulston J, Waterston R. 151.  2011. Interview by Kathryn Maxson, Robert Cook-Deegan, and Rachel Ankeny, Nov. 15. Duke Univ. Libr., Durham, NC. http://hdl.handle.net/10161/7692
  152. Thompson L. 152.  1993. Healy and Collins strike a deal. Science 259:22–23 [Google Scholar]
  153. Thorisson GA, Stein LD. 153.  2003. The SNP Consortium website: past, present and future. Nucleic Acids Res 31:124–27 [Google Scholar]
  154. Thorogood A, Zawati MH. 154.  2015. International guidelines for privacy in genomic biobanking (or the unexpected virtue of pluralism). J. Law Med. Ethics 43:690–702 [Google Scholar]
  155. 155. Toronto Int. Data Rel. Workshop Authors. 2009. Prepublication data sharing. Nature 461:168–70 [Google Scholar]
  156. 156. UN Educ. Sci. Cult. Organ. 1997. Universal declaration on the human genome and human rights http://portal.unesco.org/en/ev.php-URL_ID=13177&URL_DO=DO_TOPIC&URL_SECTION=201.html [Google Scholar]
  157. 157. UN Educ. Sci. Cult. Organ. 2003. International declaration on human genetic data http://portal.unesco.org/en/ev.php-URL_ID=17720&URL_DO=DO_TOPIC&URL_SECTION=201.html [Google Scholar]
  158. 158. UN Educ. Sci. Cult. Organ. 2005. Universal declaration on bioethics and human rights http://portal.unesco.org/en/ev.php-URL_ID=31058&URL_DO=DO_TOPIC&URL_SECTION=201.html [Google Scholar]
  159. 159. UN Gen. Assem. 1948. The universal declaration of human rights http://www.un.org/en/universal-declaration-human-rights [Google Scholar]
  160. Unterhuber R. 160.  1997. Germany gets warning on access to sequence data. Nature 387:111 [Google Scholar]
  161. 161. US Dep. Energy (DOE), Natl. Inst. Health (NIH). 1990. Understanding our genetic inheritance: the U.S. Human Genome Project: the first five years: fiscal years 1991–1995 DOE/ER-0452P, NIH Publ. 90-1590, US DOE and US Dep. Health Hum. Serv. Washington, DC: [Google Scholar]
  162. 162. US Food Drug Admin. (FDA). 2014. Draft guidance for industry, Food and Drug Administration staff, and clinical laboratories: framework for regulatory oversight of laboratory developed tests Draft Guid. Doc. US FDA Silver Spring, MD: https://www.fda.gov/downloads/medicaldevices/deviceregulationandguidance/guidancedocuments/ucm416685.pdf [Google Scholar]
  163. 163. US Food Drug Admin. (FDA). 2016. Use of public human genetic variant databases to support clinical validity for next generation sequencing (NGS)-based in vitro diagnostics: draft guidance for stakeholders and Food and Drug Administration staff Draft Guid. Doc. US FDA Silver Spring, MD: http://www.fda.gov/downloads/MedicalDevices/DeviceRegulationandGuidance/GuidanceDocuments/UCM509837.pdf [Google Scholar]
  164. 164. US Food Drug Admin. (FDA). 2017. Discussion paper on laboratory developed tests (LDTs) Discuss. Pap. US FDA Silver Spring, MD: http://www.fda.gov/downloads/MedicalDevices/ProductsandMedicalProcedures/InVitroDiagnostics/LaboratoryDevelopedTests/UCM536965.pdf [Google Scholar]
  165. Vail PJ, Morris B, van Kan A, Burdett BC, Moyes K. 165.  et al. 2015. Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. J. Community Genet 6:351–59 [Google Scholar]
  166. Van Zimmeren E, Nicol D, Gold R, Carbone J, Chandrasekharan S. 166.  et al. 2014. The BRCA patent controversies: an international review of patent disputes. Breast Cancer Gene Research and Medical Practices: Transnational Perspectives in the Time of BRCA S Gibbon, G Joseph, J Mozersky, A zur Nieden, S Palfner 151–74 New York: Routledge [Google Scholar]
  167. Varian HR, Farrell J, Shapiro C. 167.  2005. The Economics of Information Technology: An Introduction Cambridge, UK: Cambridge Univ. Press [Google Scholar]
  168. Venter JC, Adams MD, Myers EW, Li PW, Mural RJ. 168.  et al. 2001. The sequence of the human genome. Science 291:1304–51 [Google Scholar]
  169. Venter JC, Adams MD, Sutton GG, Kerlavage AR, Smith HO, Hunkapiller M. 169.  1998. Shotgun sequencing of the human genome. Science 280:1540–42 [Google Scholar]
  170. Waterston RH, Lander ES, Sulston JE. 170.  2002. On the sequencing of the human genome. PNAS 99:3712–16 [Google Scholar]
  171. Waterston RH, Sulston JE. 171.  1998. The Human Genome Project: reaching the finish line. Science 282:53–54 [Google Scholar]
  172. Watson JD. 172.  1990. The Human Genome Project: past, present, and future. Science 248:44–49 [Google Scholar]
  173. Watson JD, Crick FH. 173.  1953. Molecular structure of nucleic acids: a structure for deoxyribose nucleic acid. Nature 171:737–38 [Google Scholar]
  174. Watson JD, Crick FH. 174.  1953. The structure of DNA. Cold Spring Harb. Symp. Quant. Biol. 18:123–31 [Google Scholar]
  175. 175. Wellcome Trust. 2003. Sharing data from large-scale biological research projects: a system of tripartite responsibility Rep. Wellcome Trust London: https://www.genome.gov/pages/research/wellcomereport0303.pdf [Google Scholar]
  176. 176. Wellcome Trust. 2017. Statement on genome data release https://wellcome.ac.uk/funding/managing-grant/statement-genome-data-release [Google Scholar]
  177. 177. Wellcome Trust, Natl. Inst. Health (NIH), US Dep. Energy (DOE), 164th Genome Technol. Comm., Jpn. Soc. Promot. Sci., UK Med. Res. Council. 1998. Third International Strategy Meeting on Human Genome Sequencing, Hamilton Princess Hotel, Bermuda, 27th February–1st March 1998 Cent. Public Genom. Res. Files, Duke Univ. Libr. Durham, NC: http://hdl.handle.net/10161/7745 [Google Scholar]
  178. Williams H. 178.  2013. Intellectual property rights and innovation: evidence from the human genome. J. Polit. Econ. 121:1–27 [Google Scholar]
  179. Williamson AR. 179.  1999. The Merck Gene Index project. Drug Discov. Today 4:115–22 [Google Scholar]
  180. Wilson R. 180.  1999. How the worm was won: the C.elegans genome sequencing project. Trends Genet 15:51–58 [Google Scholar]
  181. Wooster R, Bignell G, Lancaster J, Swift S, Seal S. 181.  et al. 1995. Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789–92 [Google Scholar]
  182. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D. 182.  et al. 1994. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265:2088–90 [Google Scholar]
/content/journals/10.1146/annurev-genom-083115-022515
Loading
/content/journals/10.1146/annurev-genom-083115-022515
Loading

Data & Media loading...

  • Article Type: Review Article
This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error