5. K. Davies and M. White, Breakthrough: The Race to Find the Breast Cancer Gene (New York: Wiley, 1996).
6. T. Walsh, S. Casadei, K. H. Coats, et al., “Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer,” JAMA, 2006, 295(12): 1379–88.
7. Conversation with Mary-Claire King, October 12, 2008.
8. Interview with Rich Terry, March 10, 2008.
9. Interviews with Rich Terry and Greg Porreca, March 10, 2008.
10. Interview with George Church, March 10, 2008.
11. http://www.google.com/patents/about?id=QeejAAAAEBAJ&dq=polony&num=100.
12. J. Karow, “For ABI, developing Agencourt’s sequencing technology is a high priority,” GenomeWeb Daily News, June 6, 2006.
13. K. Davies, “The drive for the $1000 genome,” Bio-IT World, May 15, 2007.
14. http://www.equitygroups.com/nyse/abi/messages/144027.html.
15. Interview with Kevin McKernan, February 8, 2007.
16. Interview with Chad Nusbaum, February 2, 2009.
17. Interview with George Church, July 18, 2007.
18. Interview with George Church, December 5, 2008.
19. Interview with George Church, March 16, 2009.
20. Interview with Chad Nusbaum, February 2, 2009
21. Interview with Kevin McCarthy, January 2010.
22. Interview with Greg Porreca, April 16, 2009.
23. Interview with Kevin McCarthy, January 20, 2010.
24. Email from George Church, December 14, 2009.
25. http://ir.helicosbio.com/releasedetail.cfm?ReleaseID=438340.
26. Interview with George Church, January 18, 2010.
27. E. Winnick and J. Karow, “Helicos sees five to 10 orders by end ‘08, shows resequencing, gene-expression results,” In Sequence, September 30, 2008.
28. "Helicos to lay off 30 percent of workforce to cut costs; retracts order guidance,” GenomeWeb Daily News, December 4, 2008.
29. L. Timmerman, “Helicos shuffles CEOs, names Lowy to top job,” Xconomy, December 2, 2008.
30. Interview with Steve Lombardi, December 14, 2009.
31. "Expression Analysis returns Helicos sequencing system,” GenomeWeb Daily News, January 30, 2009.
32. Interview with Steve McPhail, January 23, 2009.
33. Anonymous, “Expression analysis certified on Illumina platforms,” GenomeWeb Daily News, February 15, 2010.
34. J. Karow, “Helicos installs two instruments in Q2, seeks new funding sources as $5M of cash remain,” In Sequence, August 18, 2009.
35. http://ir.helicosbio.com/releasedetail.cfm?ReleaseID=406880.
36. Interview with Chad Nusbaum, October 21, 2008.
37. T. D. Harris, P. R. Buzby, H. Babcock, et al., “Single-molecule DNA sequencing of a viral genome,” Science, 2008, 320(5872): 106–9.
38. http://www.genomeweb.com/sequencing/tim-harris-francis-collins.
39. Interview with Tim Harris, October 22, 2009.
40. "Helicos to raise $9.4M in private placement,” GenomeWeb Daily News, September 16, 2009.
41. http://www.genomeweb.com/eight-firms-gwdn-index-return-triple-digit-stock-price-increases-09.
42. D. Pushkarev, N. F. Neff, and S. R. Quake, “Single-molecule sequencing of an individual human genome,” Nature Biotechnology, 2009, 27(9): 847–52.
43. F. Ozsolak, A. R. Platt, D. R. Jones, et al., “Direct RNA sequencing,” Nature, 2009, 461(7265): 814–18.
44. J. Karow, “High-throughput sequencing gains traction in disease RX in 09; new platforms to enter this year,” In Sequence, January 5, 2010.
45. "Helicos sells four instruments to Riken,” GenomeWeb Daily News, September 8, 2009.
46. K. Lakhman, “Correlagen debuts Helicos-based cardiac panel; is there room for Illumina’s GA2?” Sample, October 19, 2009.
47. J. Karow, “High-throughput sequencing gains traction in disease RX in 09; new platforms to enter this year.”
48. http://ir.helicosbio.com/secfiling.cfm?filingid=1104659-10-6957.
49. Interview with Steve Lombardi, February 16, 2010.
50. Anonymous, “Investment bank drops coverage of helicos biosciences,” GenomeWeb Daily News, March 8, 2010.
51. B. Toner and J. Karow, “Helicos ‘repositioning’ as cash dwindles, institute returns HeliScope, Nasdaq threatens delisting,” In Sequence, April 20, 2010.
52. P. Feugier and J. M. Chevalier, “The Paget-Schroetter syndrome,” Acta Chirurgica Belgica, 2005, 105(3): 256–64.
53. D. Wardrop and D. Keeling, “The story of the discovery of heparin and warfarin,” British Journal of Haematology, 2008, 141(6): 757–63.
54. D. Kurnik, R. Loebstein, H. Halkin, E. Gak, and S. Almog, “10 years of oral anticoagulant pharmacogenomics: What difference will it make? A critical appraisal,” Pharmacogenomics, 2009, 10(12): 1955–65.
55. R. Weinshilboum and L. Wang, “Pharmacogenomics: Bench to bedside,” Nature Reviews: Drug Discovery, 2004, 3(9): 739–48; R. Sikka, B. Magauran, A. Ulrich, and M. Shannon, “Bench to bedside: Pharmacogenomics, adverse drug interactions, and the cytochrome p450 system,” Academic Emergency Medicine, 2005, 12(12): 1227–35; S. Sattiraju, S. Reyes, G. C. Kane, and A. Terzic, “K(ATP) channel pharmacogenomics: From bench to bedside,” Clinical Pharmacology & Therapeutics, 2008, 83(2): 354–57.
56. A. Gawande, The Checklist Manifesto: How to Get Things Right (New York: Metropolitan, 2010); A. Gawande, “The checklist: If something so simple can transform intensive care, what else can it do?” New Yorker, 2007: 86–101.
57. J. Laurance, “Peter Pronovost: Champion of checklists in critical care,” Lancet, 2009, 374(9688): 443.
58. E. Munoz, W. Munoz 3rd, and L. Wise, “National and surgical health care expenditures, 2005–2025,” Annals of Surgery, 2010.
59. Interview with Marilyn Ness, October 19, 2008.
60. P. L. Hedley, P. Jorgensen, S. Schlamowitz, et al., “The genetic basis of Brugada syndrome: A mutation update,” Human Mutation, 2009, 30(9): 1256–66.
61. Email from Joe Thakuria, February 4, 2010.
62. Interview with George Church, October 19, 2008.
63. Interview with George Church, Ting Wu, Joe Thankuria, Church’s office, October 19, 2008.
64. Ibid.
65. Ibid.
66. Ibid.
67. Interview with George Church, October 19, 2008.
68. J. Zhou and E. A. Shephard, “Mutation, polymorphism and perspectives for the future of human flavin-containing monooxygenase 3,” Mutation Research, 2006, 612(3): 165–71.
69. Email from Joe Thakuria, February 4, 2010.
70. Comments from participants in the second annual gathering of the Personal Genome Project, October 20, 2008.
71. M. W. Foster, J. J. Mulvihill, and R. R. Sharp, “Evaluating the utility of personal genomic information,” Genetics in Medicine, 2009, 11(8): 570–74.
72. Comments from participants in the second annual gathering of the Personal Genome Project, October 20, 2008.
73. Email from Jason Bobe, January 7, 2009.
74. Interview with George Church, February 2, 2009.
75. Interview with Sasha Wait Zaranek, February 2, 2009.
76. Ibid.
77. Ibid.
78. Interview with George Church, October 20, 2008.
79. Ibid.
80. Conversation with Lisa Kessler, February 5, 2009.
81. Conversation with Lisa Kessler, February 26, 2009.
82. C. Tilstone, “Gene patents: A myriad of issues,” Lancet Oncology, 2004, 5(7): 392.
83. E. Verkey, “Patenting of medical methods—need of the hour,” Journal of Intellectual Property Law & Practice, 2006, 2(2): 104–13.
84. G. Poste, “The case for genomic patenting,” Nature, 1995, 378(6557): 534–36.
85. R. Cook-Deegan, S. Chandrasekharan, and M. Angrist, “The dangers of diagnostic monopolies,” Nature, 2009, 458(7237): 405–6.
86. https://www.counsyl.com/about/
counsyl/.
87. https://www.counsyl.com/.
88. https://www.counsyl.com/campaign/end-preventable-genetic-disease/.
89. M. Hintermair and J. A. Albertini, “Ethics, deafness, and new medical technologies,” Journal of Deaf Studies and Deaf Education, 2005, 10(2): 184–92.
90. D. Dobbs, “The science of success,” Atlantic, December 2009.
91. https://www.counsyl.com/about/counsyl/.
92. W. Olaya, P. Esquivel, J. H. Wong et al., “Disparities in BRCA testing: When insurance coverage is not a barrier,” American Journal of Surgery, 2009, 198(4): 562–65.
93. Email from Linda Avey, February 19, 2009.
94. http://www.aclu.org/free-speech_womens-rights/aclu-challenges-patents-breast-cancer-genes.
95. T. Ray, “Myriad files motion to dismiss ACLU’s ‘thinly veiled’ anti-gene patenting case,” Pharmacogenomics Reporter, August 5, 2009.
96. http://www.ascp.org/MainMenu/AboutASCP/Newsroom/NewsReleases/Gene-Patent-Class-Action-Lawsuit-Proceeds.aspx.
97. http://www.cap.org/apps/portlets/contentViewer/show.do?printFriendly=true&contentReference=cap_today%2Ffeature_stories%2F0906Gene.html.
98. E. Matloff and A. Caplan, “Direct to confusion: Lessons learned from marketing BRCA testing,” American Journal of Bioethics, 2008, 8(6): 5–8.
99. http://www.aclu.org/free-speech-technology-and-liberty-womens-rights/association-molecular-pathology-et-al-v-uspto-et-al.
100. Interview with George Church, February 2, 2009.
101. Instant message from Jason Bobe, October 13, 2009.
102. https://ccr.coriell.org/Sections/Search/Sample_Detail.aspx?Ref=GM21677&PgId=166.
103. Amy McGuire seminar: Confidentiality of Genetic Data in Human Research, National Institute of Environmental Health Sciences, June 15, 2007.
104. H. Keyserling and T. Duerr, South American Meditations on Hell and Heaven in the Soul of Man (New York: Harper, 1932).
105. Email from the author to the Personal Genome Project, February 26, 2009.
CHAPTER 11: “SOMETHING MAGICAL”
1. Interview with George Church, February 2, 2009.
2. Interview with George Church, August 11, 2008.
3. Interview with George Church, December 14, 2009.
4. Interview with George Church, August 11, 2008.
5. Interview with George Church, October 20, 2008.
6. E. Pilkington, “I am creating artificial life, declares US gene pioneer,” Guardian, October 6, 2007.
7. S. Connor, “Nobel scientist happy to ‘play God’ with DNA,” Independent (U.K.), May 17, 2000.
8. Interview with George Church, February 2, 2009.
9. M. Siderits, Buddhism as Philosophy: An Introduction (Indianapolis: Ashgate, 2007).
10. Interview with George Church, March 16, 2009.
11. Interview with George Church, October 3, 2008.
12. http://www.bloomberg.com/apps/news?pid=conewsstory&refer=conews&t kr=ABI%3AUS&sid=aDNAix404KIA.
13. J. Karow, “Life Tech’s IP-infringement suit against Illumina to go to trial in July 2011,” In Sequence, November 17, 2009.
14. Interview with Rade Drmanac, October 9, 2007.
15. Ibid.
16. Ibid.
17. Interview with Rade Drmanac, December 8, 2008.
18. "A changing drug supply,” Nature, 2007, 445(7127): 460.
19. J. D. McPherson, “Next-generation gap,” Nature Methods, 2009, 6(11 Suppl): S2–5.
20. Interview with Rade Drmanac, December 8, 2008.
21. Ibid.
22. K. Davies, “Complete Genomics targets ‘the first $1000 genome,'” Bio-IT World, November 12, 2008.
23. Interview with Rade Drmanac, December 8, 2008.
24. Ibid.
25. Interview with George Church, October 20, 2008
26. J. Karow, “Complete Genomics raises $45M in Series D round; sequencing center scheduled to open in January,” In Sequence, August 25, 2009.
27. Ibid.
28. Interview with Rade Drmanac, December 8, 2008.
29. Interview with George Church, October 20, 2008.
30. Interview with Rade Drmanac, December 8, 2008.
31. Interview with Rade Drmanac, October 7, 2008.
32. A. Pollack, “The race to read genomes on a shoestring, relatively speaking,” New York Times, February 9, 2008.
33. J. Karow, “PacBio to start selling next-gen sequencer to early users in 2010; goal is 100 GB/hour,” In Sequence, February 25, 2008.
34. E. C. Hayden, “Human genomes in minutes?” Nature.com, November 20, 2008.
35. Interview with Chad Nusbaum, February 2, 2009.
36. Interview with Steve Turner, December 21, 2008.
37. Interview with Steve Turner, December 20, 2008.
38. C. H. Arnaud, “DNA sequencing forges ahead,” Chemical & Engineering News, December 14, 2009.
39. J. Karow, “PacBio sequences E. coli genome, increases average read length to nearly 1,000 bases,” In Sequence, February 10, 2009.
40. J. Karow, “PacBio to expand apps for SMRT platform; initial focus on cancer, infectious disease sequencing,” In Sequence, September 22, 2009.
41. J. Eid, A. Fehr, J. Gray, et al., “Real-time DNA sequencing from single polymerase molecules,” Science, 2009, 323(5910): 133–38.
42. "The 15-minute genome: Faster, cheaper genome sequencing on the way,” ScienceDaily, July 29, 2009.
43. M. Herper, “The new, fast gene machine,” Forbes, September 17, 2009.
44. Interview with Steve Turner, September 16, 2009.
45. J. Karow, “PacBio to expand apps for SMRT platform; initial focus on cancer, infectious disease sequencing,” In Sequence, September 22, 2009.
46. J. Karow, “Survey: Illumina, SOLiD, and 454 gain ground in research labs; most users mull additional purchases,” In Sequence, January 19, 2010.
47. Interview with George Church, October 20, 2008.
48. Cold Spring Harbor Biology of Genomes Meeting, ELSI Panel, May 8, 2008.
49. Ibid.
50. http://www.genome.gov/27026551.
51. http://www.worldsciencefestival.com/video/your-biological-biography.
52. T. Feder, “World Science Festival in NYC,” Physics Today, 2008, 61(5): 25.
53. R. Irion, “Vera Rubin—the bright face behind the dark sides of galaxies,” Science, 2002, 295(5557): 960–61.
54. Email from Jim Evans, May 2008.
55. Conversation with Sir Paul Nurse, May 31, 2008.
56. E. Dolgin, “The science of storytelling,” Scientist NewsBlog, June 18, 2009.
57. Conversation with Francis Collins, May 31, 2008.
58. Interview with Francis Collins, October 11, 2008.
59. Ibid.
60. Ibid.
61. Ibid.
62. Ibid.
63. Ibid.
64. A. Sullivan, “Helping Christians reconcile God with science,” Time, May 2, 2009.
65. F. S. Collins, The Language of Life: DNA and the Revolution in Personalized Medicine (New York: HarperCollins, 2009).
66. J. Kaiser, “Nominations: White House taps former genome chief Francis Collins as NIH director,” Science, 2009, 325(5938): 250–51.
67. http://www.hhs.gov/news/press/2009pres/08/20090807d.html.
68. T. Kirby, “Francis Collins: Director of the US National Institutes of Health Profile,” Lancet, 2009, 374(9694): 969; J. Kaiser and F. Collins, “Newsmaker interview Francis Collins: Looking beyond the funding deluge,” Science, 2009, 326(5950): 214.
69. F. S. Collins, “The case for a US prospective cohort study of genes and environment,” Nature, 2004, 429(6990): 475–77.
70. T. Kohnlein and T. Welte, “Alpha-1 antitrypsin deficiency: Pathogenesis, clinical presentation, diagnosis, and treatment,” American Journal of Medicine, 2008, 121(1): 3–9.
71. S. Lueck, “One-man gridlock: Meet Tom Coburn, Senate’s ‘Dr. No,’ “ Wall Street Journal, December 21, 2007, http://online.w
sj.com/public/article_print/SB119820693514244309.html.
72. Conversation with Dennis Pollock, July 16, 2009.
73. Interview with Francis Collins, October 11, 2008.
CHAPTER 12: CHARITY BEGINS AT HOME
1. D. B. Goldstein, Jacob’s Legacy: A Genetic View of Jewish History (New Haven, Conn.: Yale University Press, 2008).
2. A. C. Need, D. Kasperaviciute, E. T. Cirulli, and D. B. Goldstein, “A genome-wide genetic signature of Jewish ancestry perfectly separates individuals with and without full Jewish ancestry in a large random sample of European Americans,” Genome Biology, 2009, 10(1): R7.
3. D. B. Goldstein, “The genetics of human drug response,” Philosophical Transactions of the Royal Society of London, 2005, 360(1460): 1571–72.
4. D. Ge, J. Fellay, A. J. Thompson, et al., “Genetic variation in IL28b predicts hepatitis c treatment-induced viral clearance,” Nature, 2009, 461(7262): 399–401; D. B. Goldstein, “Genomics and biology come together to fight HIV,” PLoS Biology, 2008, 6(3): e76; E. L. Heinzen, W. Yoon, S. K. Tate, et al., “Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCNLa,” American Journal of Human Genetics, 2007, 80(5): 876–83; G. L. Cavalleri, M. E. Weale, K. V. Shianna, et al., “Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: A case-control study,” Lancet Neurology, 2007, 6(11): 970–80.
5. D. B. Goldstein, G. L. Cavalleri, and K. R. Ahmadi, “The genetics of common diseases: 10 million times as hard,” Cold Spring Harbor Symposia on Quantitative Biology, 2003, 68: 395–401.
6. J. Fellay, K. V. Shianna, D. Ge, et al., “A whole-genome association study of major determinants for host control of HIV-1,” Science, 2007, 317(5840): 944–47.
7. T. A. Manolio, “Collaborative genome-wide association studies of diverse diseases: Programs of the NHGRI’s Office of Population Genomics,” Pharmacogenomics, 2009, 10(2): 235–41.
8. N. Wade, “A dissenting voice as the genome is sifted to fight disease,” New York Times, September 16, 2008.
9. B. Maher, “Personal genomes: The case of the missing heritability,” Nature, 2008, 456(7218): 18–21; T. A. Manolio, F. S. Collins, N. J. Cox, et al., “Finding the missing heritability of complex diseases,” Nature, 2009, 461(7265): 747–53.
10. https://www.23andme.com/you/journal/multiplesclerosis/overview/.
11. http://www.snpedia.com/index.php/Multiple_sclerosis.
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