Here Is a Human Being (40 page)

relationship with them. I wanted them to know that there was
someone
—an anxious middle-aged dude with a wife and two kids, susceptible to metabolic syndrome, plays a crude approximation of guitar in a rock band—behind those cells, that tissue, those brain scans, and that DNA, and that he expected the PGP to live by its own self-imposed code.
I cared.
Serving on the IRB had made me aware of how often investigators lost sight of whom they were studying and why. I had—and have—every reason to think the PGP would be different.

I had swallowed open consent whole. I wondered if George might yet live to regret it … if he ever regretted anything.

“I’m still at the ‘pre-gret’ stage,” he told me in an email with a subject line that read “RE: gret.” “I suppose that dissecting the past can help with planning the future … so my regrets are for opportunities missed in the future despite warnings in the present. There are a vast number of alternative universes: perhaps in some my career goes better, but global warming goes worse.”
¹⁸

As I sat in the audience in a chilly lecture hall in Boston and listened to him rhapsodize yet again about the $0 genome (and all of the other cheap “omes” headed our way), I was struck anew by his tirelessness and optimism. Only George could have had the audacity and the naïveté, the cojones and the guilelessness, to write an article in
Scientific American
in January 2006 called “Genomes for All.”
¹⁹
It was a declaration that while we may have only the vaguest of clues as to what the genome means or what it does, like Roald Amundsen headed south, we were ready to find out for ourselves. Not because we have any illusions about genes as the secrets of our being.

But because we don’t.

This book is true, it is nonfiction, which is to say that I didn’t make anything up or change any names. I made a good-faith effort to honestly and accurately portray people and events as I experienced them. Interviews were recorded digitally or are derived from detailed notes during and/or after conversations and meetings. I edited dialogue for clarity or grammar and in a few instances I spliced together statements from the same person that were made at different times. In rare cases (e.g., the James Sherley affair), I relied more heavily on secondary sources, be they journalistic or scholarly. Wherever possible, sources are end-noted and all web links were active at the time this book was being edited. Where first-person speculative statements and opinions are offered without attribution or quotation marks, they are mine and mine alone. Please don’t hassle the nice people at Duke University or HarperCollins on account of my
mishegas.

EPIGRAPH

1.
D. J. Kevles and L. E. Hood,
The Code of Codes: Scientific and Social Issues in the Human Genome Project
(Cambridge, Mass.: Harvard University Press, 1992).

2.
J. W. v. Goethe and D. J. Enright,
The Sayings of Goethe
(London: Duckworth, 1996).

3.
Seen in George Plimpton’s diary by James Scott Linville: http://themain point.blogspot.com/2009/02/more-on-plimpton.html.

CHAPTER 1: THE NUMERATOR

1.
http://www.myspace.com/seacowrocks.

2.
personalgenomes.org.

3.
P. Dizikes, “Your DNA is a snitch,” Salon.com, February 17, 2009.

4.
P. Szekely, “Railroad to pay $2.2 million in DNA test case illegally testing workers for genetic defects,” Reuters, May 8, 2002.

5.
Norman-Bloodsaw v. Lawrence Berkeley Laboratory,
Fed Report, 1998, 135, pp. 1260–76; S. French, “Genetic testing in the workplace: The employer’s coin toss,”
Duke Law & Technology Review,
September 5, 2002, p. E1.

6.
S. Greenhouse and M. Barbaro, “Wal-Mart memo suggests ways to cut employee benefit costs,”
New York Times,
October 26, 2005.

7.
K. Kaplan, “U.S. military practices genetic discrimination in denying benefits,”
Los Angeles Times,
August 18, 2007.

8.
S. Baruch and K. Hudson, “Civilian and military genetics: Nondiscrimination policy in a post-GINA world,”
American Journal of Human Genetics,
2008, 83(4): 435–44.

9.
K. L. Hudson, M. K. Holohan, and F. S. Collins, “Keeping pace with the times—the genetic information nondiscrimination act of 2008,”
New England Journal of Medicine,
2008, 358(25): 2661–63.

10.
L. A. Cupples, L. A. Farrer, A. D. Sadovnick, N. Relkin, P. Whitehouse, and R. C. Green, “Estimating risk curves for first-degree relatives of patients with Alzheimer’s disease: The REVEAL study,”
Genetics in Medicine,
2004, 6(4): 192–96.

11.
A. L. McGuire and M. A. Majumder, “Two cheers for GINA?”
Genome Medicine,
2009, 1(1): 6; M. A. Rothstein, “Putting the Genetic Information Nondiscrimination Act in context,”
Genetics in Medicine,
2008, 10(9): 655–56.

12.
S. Reitz, “Connecticut woman alleges genetic discrimination at work,” AP, April 1, 2010.

13.
R. N. Haricharan and K. E. Georgeson, “Hirschsprung disease,”
Seminars in Pediatric Surgery,
2008, 17(4): 266–75.

14.
A. J. Burns and V. Pachnis, “Development of the enteric nervous system: Bringing together cells, signals and genes,”
Neurogastroenterology & Motility,
2009, 21(2): 100–2.

15.
F. de Lorijn, G. E. Boeckxstaens, and M. A. Benninga, “Symptomatology, pathophysiology, diagnostic work-up, and treatment of Hirschsprung disease in infancy and childhood,”
Current Gastroenterology Reports,
2007, 9(3): 245–53.

16.
J. Kessmann, “Hirschsprung’s disease: Diagnosis and management,”
American Family Physician,
2006, 74(8): 1319–22.

17.
Localizing major disease susceptibility genes to a chromosomal neighborhood was still a big deal in the early 1990s. Today, thanks in large part to the Human Genome Project, most of that work has been done. If we want to learn about a gene involved in disease, we usually just have to turn on our computers and read. M. Angrist, E. Kauffman, S. A. Slaugenhaupt, et al., “A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10,”
Nature Genetics,
1993, 4(4): 351–56; S. Lyonnet, A. Bolino, A. Pelet, et al., “A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10,”
Nature Genetics,
1993, 4(4): 346–50.

18.
J. Amiel, E. Sproat-Emison, M. Garcia-Barcelo, et al., “Hirschsprung disease, associated syndromes and genetics: A review,”
Journal of Medical Genetics,
2008, 45(1): 1–14.

19.
M. Angrist, S. Bolk, B. Thiel, et al., “Mutation analysis of the ret receptor tyrosine kinase in Hirschsprung disease,”
Human Molecular Genetics,
1995, 4(5): 821–30.

CHAPTER 2: “HIS OWN DRUM”

1.
Interview with John Halamka, July 18, 2007.

2.
Interview with John Halamka, October 26, 2006.

3.
http://geekdoctor.blogspot.com/2008/01/engineering-eye-for-average-guy_16.html.

4.
Interview with John Halamka, July 18, 2007.

5.
Interview with John Halamka, October 26, 2006.

6.
Ibid.

7.
From the Personal Genome Project Consent Form, 10th Draft, July 27, 2006.

8.
C. R. Scriver, “After the genome—the phenome?”
Journal of Inherited Metabolic Disease,
2004, 27(3): 305–17.

9.
http://www.bccresearch.com/report/BIO045A.html.

10.
E. Pettersson, J. Lundeberg, and A. Ahmadian, “Generations of sequencing technologies,”
Genomics,
2009, 93(2): 105–11.

11.
Interviews with George Church, February 9 and March 13, 2007.

12.
http://www.personalgenomes.org//files/10/25/84/f102584/public/Lhtml.

13.
Interview with George Church, February 2, 2009.

14.
http://nobelprize.org/nobel_prizes/medicine/laureates/2007/index.html.

15.
http://www.genome.duke.edu/press/genomelife/archives/issue09/GL_Aug04.pdf.

16.
Interview with George Church, August 11, 2008.

17.
J. Kirshenbaum, “Top hat, white tie and bare toes,”
Sports Illustrated,
January 4, 1971.

18.
http://www.waterskihalloffame.com/docs/Bios/Stew%20McDonald.htm.

19.
Interview with George Church, October 20, 2008.

20.
Interview with Ting Wu, July 17, 2007.

21.
Interview with George Church, October 25, 2006.

22.
G. M. Church, J. L. Sussman, and S. H. Kim, “Secondary structural complementarity between DNA and proteins,”
Proceedings of the National Academy of Sciences,
1977, 74(4): 1458- 62.

23.
Interviews with Walter Gilbert, January 16 and 23, 2007.

24.
A. M. Maxam and W. Gilbert, “A new method for sequencing DNA,”
Proceedings of the National Academy of Sciences,
1977, 74(2): 560–64.

25.
G. B. Kolata, “The 1980 Nobel Prize in chemistry,”
Science,
1980, 210(4472): 887–89.

26.
Interview with Ting Wu, July 17, 2007.

27.
Ibid.

28.
Interview with George Church, October 25, 2006.

29.
http://thepersonalgenome.com/2007/08/nom-de-ome-a-pseudonym-for-your-genome/.

30.
Interview with George Church, October 25, 2006.

31.
D. Kennedy, “Not wicked, perhaps, but tacky,”
Science,
2002, 297(5585): 1237.

32.
S. Levy, G. Sutton, P. C. Ng, et al., “The diploid genome sequence of an individual human,”
PLoS Biology,
2007, 5(10): e254.

33.
http://www.genomeweb.com/2003-genome-technology-all-stars.

34.
R. D. Mitra, J. Shendure, J. Olejnik, O. Edyta Krzymanska, and G. M. Church, “Fluorescent in situ sequencing on polymerase colonies,”
Analytical Biochemistry,
2003, 320(1): 55–65.

35.
http://www.genomeweb.com/sequencing/danaher-ship-first-church-labpolonator-week-presenting-instrument-agbt.

36.
Interviews with George Church, February 9 and March 13, 2007.

37.
Interview with George Church, October 26, 2006.

38.
http://arep.med.harvard.edu/PGP/Anon.htm.

39.
http://ncvhs.hhs.gov/980128tr.htm.

40.
A. Motluk, “Anonymous sperm donor traced on Internet,”
New Scientist,
November 3, 2005.

41.
Z. Lin, R. B. Altman, and A. B. Owen, “Confidentiality in genome research,”
Science,
2006, 313(5786): 441–42.

42.
N. Homer, S. Szelinger, M. Redman, et al., “Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays,”
PLoS Genetics,
2008, 4(8): e1000167.

43.
http://grants.nih.gov/grants/gwas/data_sharing_policy_modifications_20080828.pdf.

44.
Interview with George Church, June 6, 2007.

45.
Interview with George Church, October 27, 2006.

46.
http://arep.med.harvard.edu/gmc/diet.html.

47.
Interview with George Church, August 11, 2008.

48.
Interview with Isaac Kohane, October 26, 2006.

49.
http://www.1000genomes.org/page.php.

50.
Interview with George Church, October 26, 2006.

51.
A. Regalado, “Entrepreneur puts himself up for study in genetic ‘tell-all,'”
Wall Street Journal,
October 18, 2006.

52.
http://jimwatsonsequence.cshl.edu/cgi-perl/gbrowse/jwsequence/.

53.
P. Sherwell, “DNA father James Watson’s ‘holy grail’ request,” Telegraph .co.uk, May 10, 2009.

54.
Interview with James Watson, May 11, 2007.

55.
H. Nugent, “Black people ‘less intelligent,’ scientist claims,”
Times of London
online, October 17, 2007.

56.
J. Crace, “Double helix trouble,” Guardian.co.uk, October 16, 2007.

57.
Interview with George Church, February 9, 2007.

58.
Interview with Terry Bard, November 8, 2006.

59.
Ibid.

60.
Ibid.

61.
Anonymous, February 22, 2007.

62.
Email correspondence between Jeff Schloss and George Church, May 6, 2006.

63.
T. A. Manolio and F. S. Collins, “The HapMap and genome-wide association studies in diagnosis and therapy,”
Annual Review of Medicine,
2009, 60: 443–56.

64.
http://www.hapmap.org/downloads/elsi/consent/Consent_Form_Template.doc.

65.
Personal Genome Project Informed Consent Form, 10th draft, July 27, 2006.

66.
S. Olson, “Who’s your daddy?”
Atlantic,
July/August 2007.

67.
G. J. Annas, L. H. Glantz, and P. A. Roche, “Drafting the genetic privacy act: Science, policy, and practical considerations,”
Journal of Law, Medicine & Ethics,
1995, 23(4): 360–66.

68.
Interview with Winnie Roche and George Annas, October 26, 2006.

69.
R. C. Green and G. J. Annas, “The genetic privacy of presidential candidates,”
New England Journal of Medicine,
2008, 359(21): 2192–93.

70.
http://arep.med.harvard.edu/gmc/.

71.
http://arep.med.harvard.edu/gmc/pers.html.

72.
Interview with Ting Wu, July 17, 2007.

73.
Interview with George Church, October 25, 2006.

74.
Ibid.

75.
http://www.dw-world.de/dw/article/0,,4201588,00.html.

76.
Interview with Margret Hoehe, October 10 and 11, 2008.

CHAPTER 3: “WHY SHOULD WE MAKE THEM GO OUT ON THE DANCE FLOOR?”