personal genomics, 9. See also genetic testing; medical genomics; Personal Genome Project (PGP)
ancestry testing, 268–74
author’s, 146–54, 239–59, 260–67, 274–78
F. Collins on, 44–46, 232–38
criticism of, and resistance to, 68–72, 153
discrimination and (see genetic discrimination)
ethical and legal issues and (see ELSI [ethical, legal, and social issues])
funding for, 19, 62, 157–58, 162–63, 166–68
individuals’ do-it-yourself, 169–88
interpretation of data, 71, 72–76, 252–59
reasons for investigating one’s, 274–78
regulation of, and standards for, 68–69, 71, 114–15, 173–74, 280–82
J. Watson on, 47–49
personal utility argument, 207–8
PGP. See Personal Genome Project pharmacogenomics, 115–16, 142, 199–201, 241
author’s drug response, 245–47
Marfan syndrome and, 180–82
Pharmacogenomics Knowledge Base, 256, 258
Pharmacy Benefit Manager (PBM), 116n
Phelan, Ryan, 69, 71, 72
phenome, 13
phenotype, 2, 20–21
phenotype-genotype relationship, 12–13, 21, 123, 144, 145
Pig Blood (Maxey), 108–9
Pinker, Steven, 118–19, 215, 259
APOE gene status, 113, 157
as Personal Genome Project subject, 110–13, 206, 207
Pollock, Dennis, 237–38
Polonator DNA sequencer, 19, 134–37, 167, 189, 192–95, 232, 261
polony technology, 18–19, 83–84, 90, 137. See also Polonator DNA sequencer
polymerase chain reaction (PCR), 89–90, 170–72, 180, 248
polymerase colonies. See polony technology Porreca, Greg, 136–37, 192–93, 195
primers (single-stranded DNA), 89, 171
PRISM 3700 DNA sequencer, 82
privacy and confidentiality issues,
genomics and, 19–28, 33–36, 117, 158–59
paternity/nonpaternity, 25
sperm donor industry and, 106–10
Project Jim, See Watson, James Promethease software, 148
Pronovost, Peter, 200
psoriasis, 151
pyrosequencing, 86
Quake, Steve, 88–89, 90, 91, 97, 197
race and ethnicity, 56n, 123n
ancestry testing and, 268–74
Radio Frequency Identification chip (RFID), 10–12
Rebeck, Ann, 31–33, 119–20, 260
Reeve, Christopher, 125
Reid, Cliff, 226, 227
Reif, L. Rafael, 126n
Relative Finder (23andMe), 271
restless legs syndrome, 151
rheumatoid arthritis, 141–42, 148–49, 151, 258
Rienhoff, Beatrice, medical genetic condition of, 175–82, 263
Rienhoff, Hugh, 73, 214, 256, 263, 267
his genetic testing of daughter Beatrice, 175–88
RNA (ribonucleic acid), 183n
Roche (firm), 89, 94
Roche, Winnie, 25
Rose, Nikolas, 234
Rosenbaum, Abraham, 261
Rothberg, Jonathan, 85, 86, 87, 88, 277
Rubin, Vera, 233
Sabeti, Pardis, 77
Sanger, Fred, DNA sequencing method of, 80–82, 83, 85
Sanger Institute, 85, 87
schizophrenia, 242
Schloss, Jeff, 159, 160
Schwartz, Sheila, 120
Sciona (firm), 121–23
Secretary’s Advisory Committee on Genetics, Health, and Society
(SACGHS), 68–72, 168
SEQ (firm), 91
Sequence Variant Analyzer, 252, 256, 258
Sequoia Capital (firm), 62
Shendure, Jay, 90, 93, 136
Sherley, James
as Personal Genome Project subject, 123–32, 166, 203, 206, 207
stem cell research, 124, 125, 126, 130–31
tenure dispute with MIT, 124–29
Shianna, Kevin, 96, 241, 277
sequencing of author’s DNA by, 243–51, 263–67
sickle-cell anemia, 214
Single Molecule Real Time (SMRT)
DNA sequencing system, 229–32
Smith, Gordon, 121, 122
Smith, Jason, 250–51
Smithies, Oliver, 15
SMRT. See Single Molecule Real Time (SMRT) sequencing system
SNPedia, 140–42, 145–49, 204, 242, 245, 246, 256–57, 258
SNPs (single nucleotide polymorphisms), 55, 58, 75, 141–43, 145
Social networking, 1, 57, 118–19
Solexa (firm), 89, 92, 95, 193, 197
SOLiD DNA sequencer, 79, 83, 193, 194, 281
Spas, 113
sperm donation industry, 103–10
spliced genes, 258
Stefansson, Kari, 70, 232, 281, 282
stem cells, James Sherley’s research on, 124, 125, 126, 130–31
Stephan, Dietrich, 60–68, 69, 70, 73, 74, 75, 149, 232, 281
Strong, Virginia Anne, 16
Sullivan, John, 95
Sweeney, Latanya, 19
Synthetic biology, 223–24
Tay-Sachs disease, 6, 274
Terry, Rich, 192–93
Thakuria, Joe, 201–204, 205, 257, 259
Thompson, Tommy, 68
Trait-o-matic software, 256–58, 261–63, 264
traits, 14, 21, 56, 57
transforming growth factor beta (TGF)
pathway, 178, 179, 181
Translational Genomics Research Institute (TGen), 61, 74
trimethylaminuria, 205
Triple-A syndrome, 187
tuberculosis, 203, 205
Turner, Steve, 229–32
23andMe (firm), 63, 68, 69, 70, 72, 100, 112, 122, 123n, 168, 281, 282
author’s genetic test from, 214, 257
history, services of, 54–60, 74, 76, 118, 118n, 214, 216, 242, 271
U.S. Food and Drug Administration (FDA), 115–16, 120, 282
U.S. military, 4, 124
Valle, David, 177–78
variome, 55
Venter, Craig, 18, 44, 60, 73, 82, 83, 91, 92, 135, 223, 254
genome sequence of, 18n, 22, 39
VisiGen (firm), 97
Vogelstein, Bert, 90
Vorhaus, Dan, 24
Walmart, 3–4
warfarin (pharmaceutical drug), 115–16, 199, 245
Watson, James (Jim), 41–44, 46–49, 224
APOE gene status, 27n, 41, 47, 48, 52, 138–40, 209
genome sequencing of, 18n, 22, 36, 39, 42–44, 47, 254, 263
Watson, Rufus, 22
Weld, William, 20
Wikipedia, 145, 146
Wojcicki, Anne, 57, 59–60, 75
Wu, Marie, 52, 102, 223
Wu, Ting, 16, 17, 49, 102, 162, 202–4, 222
X Prize, 83–84, 224, 229
X Prize Foundation, 83–84
Y-chromosome, 57, 241, 270
Zaranek, Sasha, 209–10
Acknowledgments
The book you hold in your hands or on your screen could not have happened without the extraordinary generosity of countless loved ones, friends, colleagues, and strangers. I will try to count them anyway.
I am eternally grateful to George Church for allowing me to shadow him for four years and never once telling me to go away, even though I gave him ample justification to do so on many occasions.
I thank Hunt Willard for his seemingly limitless supply of faith and patience. I don’t know many people who could say that about their bosses. I have been blessed for many years in this regard.
I am deeply indebted to David Goldstein, not only for agreeing to sequence me, but for supporting me in so many other tangible and intangible ways.
Thank you to my agent, Heather Schroder, for her competence, unflinching support, and tough love. Thanks also to Nicole Tourtelot for able assistance
.
I am terribly grateful to my first editor, Elisabeth Dyssegaard, and to her successor, Bill Strachan, at HarperCollins. Thanks also to the aptly named Kate Whitenight (though I would have spelled it with a k).
My colleague and friend, Bob Cook-Deegan, has been an invaluable source of advice, support, insight, and wisdom. I owe him much.
To Duncan Murrell, who has taught me about writing, about editing, and about humanity: thanks, D.
Everyone attached to the Personal Genome Project was extremely helpful and I owe them more than they’ll ever know, especially Jason Bobe, Jeantine Lunshof, Dan Vorhaus, Joe Thakuria, Margret Hoehe, Robert Green, Marilyn Ness, and Dana Waring Bateman. I am extremely grateful to Terry Bard, Abraham Rosenbaum, Sasha Wait Zaranek, Kevin McCarthy, and Andrea Loehr. Other Church lab members to whom I owe thanks: Madeleine Ball, Tom Clegg, Jin Billy Li, Jay Lee, John Aach, Mike Chao, Rich Terry, Mayra Mollinedo, and Mark Umbarger. And also to former Church lab members who shared a lot with me: Jay Shendure, Greg Porreca, Yuan Gao, Kun Zhang, Jun Zhu, and Xiaodi Wu. Many thanks also to Harvard’s Isaac Kohane and Alexandra Shields. Thanks also to Goodwin Procter LLP.
And to the two most important members of Team Church—Ting Wu and Marie Wu—I say thanks for your generosity.
Without exception, the PGP-10 were both forthcoming and articulate and I feel fortunate to have gotten to hang around with them: John Halamka, Esther Dyson, Kirk Maxey, Steven Pinker, James Sherley, Rosalynn Gill, Keith Batchelder, and Stan Lapidus.
Stan also spoke to me at length about Helicos BioSciences, as did many other past and present employees in his company. Steve Lombardi always made time for me and for that I thank him profusely. Thanks also to Tim Harris for his time and perspective. Bill Efcavitch, John Boyce, Patrice Milos, and Sepehr Kiani were both gracious and helpful.
Walter Gilbert shared his intimate knowledge of science, art, and George Church. He is also responsible for the title of this book. Thank you, Dr. Gilbert! And thanks to Deb Munroe.
I owe many thanks to Francis Collins and to the true locus of power at NIH, Kathy Hudson . At NHGRI, I thank Eric Green, Les Biesecker, and Jeff Schloss. Thanks also to Sharon Terry for her thoughts and for her heroic work with the Genetic Alliance.
In Boston, a huge thank-you goes to Kay Aull. Thanks to George Annas and Winnie Roche. Thanks very much to Jorge Conde and Julie Yoo at Knome. Thanks also to Heidi Rehm at the Partners HealthCare Center for Personalized Genetic Medicine and to Jamie Heywood and PatientsLikeMe.
I appreciate all of the time and effort expended on my behalf by Mike Cariaso at SNPedia and the time spent with his partner in crime, Greg Lennon.
Thank you to everyone in the Bay Area who made time and space for me. Thank you to the Rienhoff-Hane family for its deep well of generosity: Hugh, Lisa, Colston, Mac, and Beatrice. Thank you to Hank Greely for his time and insight. Heartfelt thanks to Dietrich Stephan, Sean George, Elissa Levin, Michael Nierenberg, Eran Halperin, Michelle Cargill, Steve Moore, Vance Vanier, and Mari Baker. I am more than grateful to Ryan Phelan, Lisa Lee, Lisa Kessler, Anne Wojcicki, Joanna Mountain, Matt Crenson, Andro Hsu, and Darren Platt. Thanks also to Mildred Cho and Sandra Soo-Jin Lee. Thanks for dinner and more, Steve Brenner. Thank you to Un Kwon-Casado, Eli Casdin, and, in Boston, John Sullivan. Thanks also to Jeff Gulcher and Kari Stefansson. Special thanks to Linda Avey, Jenny Reardon, and Barbara Prainsack.
To my colleagues at Duke, I am deeply grateful. These people include Kevin Shianna and Dongliang Ge, both of whom were indispensable. I am indebted to Kendall Morgan, Kristen Linney, Anna Need, Jason Smith, Linda Hong, Ryan Campbell, Jessica Maia, Abanish Singh, Tom Urban, Mingfu Zhu, Jacques Fellay, Liz Cirulli, Kim Pelak, Elizabeth Ruzzo, Curtis Gumbs, Erin Heinzen, Angie Cherry, Charmaine Royal, Chris Heaney, Subashini Chandrasekran, Sara Katsanis, Christine Oien, Alan Cowles, Sabrina Australie, Georgia Barnes, Jay Hamilton, Shelley Stonecipher, Ken Rogerson, Julianne O’Daniel, John Harrelson, Sharon Ellison, John Falletta, Geoff Ginsburg, Rob Mitchell, Amy Laura Hall, Priscilla Wald, Greg Wray, Philip Benfey, Dan McShea, Alex Rosenberg, Alex Cho, Christina Kapustij, Susan Brooks, Lauren Dame, Susanne Haga, Laura Beskow, Tomalei Vess, Lynne Skinner, Chris Tobias, Amy Fowler, Tom Burke, Cathy Sciambi, Donna Crutchfield, Ellen Brearley, Cindy Wicker, Simon Gregory, and my dear friend/philosopher/PERL maven, Mark DeLong.
And to my collaborators from elsewhere: Louiqa Raschid, Ritu Agarwal, Samir Khuller, and Brad Malin—thank you for including me.
Warm thanks to Maynard Olson, Oliver Smithies, Sam Levy, Vera Rubin, Craig Venter, and Heather Kowalski.
To everyone involved with Project Jim, thank you very much: Jim Watson, Jonathan Rothberg, David Wheeler, Michael Egholm, Richard Gibbs, and especially Amy McGuire.
Thank you, Jim Evans and Gail Henderson—see you at Glasshalfull. Much gratitude to Hal Dietz, a gifted physician and researcher, and a mensch. Thank you to Tiffany Marum for her lack of cynicism. Thanks to Bob Davis and Peter Whitehouse. Special thanks to Mary-Claire King.
Thank you to Skip Gates, aka The Man, for his generosity and time. Thank you to his colleague at Harvard and my friend Duana Fullwiley. Many thanks to Rick Kittles. Thanks also to Amy Gosdanian and Abby Wolf.
Chad Nusbaum was incredibly helpful; I hope I have not damaged his career. Others at the Broad Institute who were kind enough to speak with me include Stacey “Noodles” Gabriel, Pardes Sabeti, and Carsten Russ.
The sequencing and genome biology community was rife with fascinating and generous people. These included Rade Drmanac, Jennifer Turcotte, Andy McCallion, Elaine Mardis, Steve Turner, Trevin Rard, Kevin McKernan, Alan Blanchard, Steve McPhail, Jay Flatley, Tristan Orpin, Ian Goodhead, Steve Quake, Evan Eichler, Hugues Roest-Crollius, Anne Pontius, David Bentley, Mostafa Ronaghi, Eddy Rubin, Richard Fair, Pauline Ng, Zhen Lin, Nelson Axelrod, and Zhuo Li.
Many thanks go to my graduate adviser and friend Aravinda Chakravarti for the years of wisdom, openness, and hospitality.
Thank you, friends: Cathy Olofson, Tara Matise, Sarah Shaw Murray, and Sue Slaugenhaupt.
Thanks to John Inglis at Cold Spring Harbor. Thank you to Wendy Kramer and the Donor Sibling Registry. Thanks to Bill Catalona for his time and insight and to Cissy Lacks. Thank you also to Deb McDermott.
Thank you to the indefatigable staff at Genome Technology, especially Julia Karow and Meredith Salisbury. Thank you also to Kevin Davies of Bio-IT World and Orli Bahcall and Myles Axton at Nature Genetics.
I am indebted to the genome bloggerati, especially Daniel Macarthur, Blaine Bettinger, Hsien Hsien Li, Jonathan Eisen, and Steve Murphy. Thanks also to Bora Zivkovic, David Kroll, and Sheril Kirshenbaum.
Many thanks to the Genetics & Public Policy Center and to Paul Easton.
Thanks to my writer friends, whose support never flagged: Rich Remsberg, Barry Yeoman, Carl Zimmer, Rebecca Skloot, Richard Ziglar, David Dobbs, David Ewing Duncan, Amy Harmon, and Thomas Goetz. Thanks to Nicole Chaison and Jen Bergmark. I offer my humble gratitude to Theresa Rebeck for all kinds of stuff.
Warm thanks to Sea Cow, the best band a guy could have: DJ, Jennie, Shoney, and Sneezy. Thanks also to Durham’s answer to Martha Stewart, Julie Maxwell.
Finally, I could not have written this book without the love, help, and buy-in of my family. Josh and Mira Angrist and their kids Noam and Adie housed and fed me time and again and tolerated my chronic messiness. Ezra Angrist and Michele Penner gave of themselves, their children Jordan and Jesse, and their stories. My parents, Sarah and Stan, in addition to sharing their genomes with me and with my brothers, told me about our family history and never wavered in their support. Bill Rebeck put me up and put up with me for many nights in Washington, D.C. I will have to find other excuses to visit and annoy him.
And to Ann and to the best things ever connected to my genome, Stella and Lena: thank you, girls. Again.
About the Author
MISHA ANGRIST is an assistant professor at the Duke University Institute for Genome Sciences and Policy. Hi
s doctoral and postdoctoral work was in human genetics, and he was formerly a boardeligible genetic counselor. He received an MFA in writing and literature from the Bennington Writing Seminars, and his fiction and nonfiction have appeared in numerous literary journals. He lives in Durham, North Carolina, with his wife and two daughters.
Visit www.AuthorTracker.com for exclusive information on your favorite HarperCollins author.
Praise
Three billion bases of DNA sequence can be put on a single compact disc and one will be able to pull a CD out of one’s pocket and say, “Here is a human being; it’s me!”
—WALTER GILBERT, 19921
God could cause us considerable embarrassment by revealing all the secrets of nature to us: we should not know what to do for sheer apathy and boredom.
—JOHANN VON GOETHE2
When one goes on a journey of self-exploration, one should go heavily armed.
—PAUL VERLAINE3
Copyright
HERE is A HUMAN BEING. Copyright © 2010 by Misha Angrist.
All rights reserved under International and Pan-American Copyright Conventions. By payment of the required fees, you have been granted the non-exclusive, non-transferable right to access and read the text of this e-book on-screen. No part of this text may be reproduced, transmitted, down-loaded, decompiled, reverse engineered, or stored in or introduced into any information storage and retrieval system, in any form or by any means, whether electronic or mechanical, now known or hereinafter invented, without the express written permission of HarperCollins e-books.
EPub Edition © OCTOBER 2010 ISBN: 978-0-062-01046-9
FIRST EDITION
* * *
Library of Congress Cataloging-in-Publication Data
Angrist, Misha.
Here is a human being: at the dawn of personal genomics / Misha Angrist.
p. cm.
Summary: “Misha Angrist, who has a Ph.D. in genetics and an MFA, brings us the first, inside story of the Personal Genome Project, its larger-than-life research subjects, as well as the political, social, and ethical issues that emerged throughout the study"—Provided by publisher.
ISBN 978-0-06-162833-7 (hardback)
1. Personal Genome Project. 2. Human genome—Databases. I. Title.
Here Is a Human Being Page 38
