Bylsma, Dan, 155
California Cryobank (firm), 106, 107, 108
Campbell, Ryan, 249
cancer, 62
breast (see breast cancer)
colon, 151
ovarian, 119–20
prostate, 151, 205
Canyon Ranch Spa and Resort, 113
capillary DNA sequencing, 82
Caplan, Arthur, 107
cardiovascular disease, 151
Caregroup Healthcare System (firm), 10
Cariaso, Mike, 138–49
CASP12 gene, 266
Catalona, William J. (Bill), 33–36
Cayman Biomedical Research Institute
(CaBRI), 106–7
Cayman Chemical (firm), 103
Celera Genomics (firm), 18, 91
celiac disease, 151
Chakravarti, Aravinda, 98
Chandrasekharan, Shubha, 215
Chomsky, Noam, 126
chromatin, 17
chromosomes, 57, 139, 139n, 241
Y-, 57, 241, 270
Church, George, 54, 69, 91, 102, 117, 126, 134, 218, 228, 232, 269
early life and family of, 15–17
interest in synthetic biology, 22–25
interpretation of genomic data by, 256–59
Knome firm (see Knome [firm])
narcolepsy of, 222–23
Personal Genome Project work, 1214, 22–28, 37–38, 49–53, 84, 156–58, 162–68, 189–91, 201–11, 239–40, 283 (see also Personal Genome Project [PGP])
polony technology work, 18–19, 83–84, 90, 137 (see also Polonator DNA sequencer)
on privacy versus open consent in genomics, 20–22, 24–28, 37–38, 51–53, 158–59
Trait-o-matic software, 256–58, 261–63, 264
Clinical Data (firm), 121
Clinical Laboratory Improvement Amendments of 1988 (CLIA), 74–75n
Coburn, Tom, 237–38
codons, 254–55
Collins, Francis, 39, 44–46, 47, 48, 72, 83, 232–38, 278
commercial genomics. See personal genomics; also names of individual companies, e.g. Navigenics (firm)
Common Rule, 34
complementary DNA (cDNA), 183–84n
Complete Genomics (firm), 97, 205, 224–29, 277
Conde, Jorge, 118
congenital aganglionic megacolon. See Hirschsprung’s disease
confidentiality. See privacy and confidentiality issues, genomics and consensus statements, 50
consent issues, 22–27, 31, 159
Cook-Deegan, Bob, 24, 117, 190, 215
copy-number variants (CNVs), 55n
Counsyl (firm), 215
Crenson, Matt, 54, 56
Crichton, Michael, 48
Crick, Francis, 41, 46
Critical Art Ensemble, 173–74
cystic fibrosis, 214, 215
Cytyc (firm), 88
Daly, Mark, 269
Dawkins, Richard, 112
Day, Tracy, 233
dbSNP database, 145, 256
deCODEme (firm), 55, 56n, 63, 68, 69, 70, 72, 168, 277, 281, 282
Department of Energy, U.S., 225
depression, 246–47
diabetes, Type 2, 151, 152, 277
Dietz, Hal, 175–76, 178, 180, 187, 188
disease risk, 27, 75–76, 112–13, 122, 141, 143, 148–54, 155–57, 161, 190–91, 199–201, 203–5, 213–16, 242–43, 257–59, 262–67. See also names of specific diseases or conditions
DIYBio San Francisco, 171–75
DNA (deoxyribonucleic acid)
complementary, 183, 183–84n
mitochondrial, 57, 241, 270
ownership of, 36, 217, 218
DNA Direct (firm), 69, 71, 168, 175
author’s genetic test results from, 213–14, 264
DNA polymerase, 80
DNA-sequencer machines, 42, 82, 88
Genome Analyzer (Illumina), 243, 245, 249
DNA-sequencer machines (cont.)
GS 20 (454 Life Sciences), 85–88, 193
HeliScope (Helicos BioSciences), 93–97, 193, 195–99
HiSeq 2000 (Illumina), 277
Polonator (see Polonator DNA sequencer)
SMRT (Pacific Biosciences), 229–32
SOLiD (Applied Biosystems), 79, 83, 193, 194
DNA sequencing, 2–3, 13–14, 17, 78–98, 133–37, 162, 224–32. See also
DNA-sequencer machines by Applied Biosystems, 79, 83, 193, 194
Archon X Prize for, 83–84, 224, 229
of author’s DNA, 239–59
capillary, 82
by Complete Genomics, 225–29
costs of, 83
filtering software, 250–51
by 454 Life Sciences, 85–88
genetic testing and, by individuals, 169–88
by Helicos BioSciences, 88–97, 193, 195–99
by Illumina (see Illumina [firm])
by Pacific Biosciences, 229–32
role of polymerase chain reactions (PCR) in, 89–90, 248
Sanger method, 80–82, 83, 85
Donor Gamete Archive, 106, 107, 108
Donor Sibling Registry, 105, 108
Dover (firm), 195
Drmanac, Rade, 225–29
drugs and personal genomics.
See pharmacogenomics
Duke University Institutional Review Board, 244
Dyson, Esther, as Personal Genomics Project subject, 99–102, 206, 245
Dyson, Freeman, 100
Edwards, Jeremy, 194
Efcavitch, Bill, 95
Egholm, Michael, 42, 43
Einstein, Albert, 252
Elliott, Carl, 30–31
ELSI (ethical, legal, and social issues), 24–25, 33–39, 110, 137–39, 140, 158–59, 164–66
embryonic stem cell research, 125–26, 128, 129
epilepsy, 241
ethics, 19–27, 110, 137–38, 140, 164–66, 271–72. See also ELSI
eugenics, 110, 275
Evans, Jim, 72, 234
Exact Sciences (firm), 88
Expression Analysis, (firm) 196
Factor VIII gene, 254
Family Tree DNA, 123n
Fanconi anemia, 263
Fellay, Jacques, 241
Ferrell, Bob, 174
FerroKin Biosciences (firm), 176
Feynman, Richard, 233
fibrillin-1 gene, 178, 181
Fink, Pamela, 4–5
FitzGerald, Kevin, 71–72
Fodor, Steve, 59
forensic DNA, 20, 89, 124
454 Life Sciences (firm), 42, 44, 89, 92, 454
DNA sequencing by, 85–88, 193, 196
Fox, Michael J., 125
Franklin, Rosalind, 22
Fullwiley, Duana, 273
Gabriel, Stacey, 77
Gates, Henry Louis, Jr., 215, 268–74
Gates, Henry Louis, Sr., 272–73
Gawande, Atul, 200
Ge, Dongliang, 252–55, 256, 265–66
GE Healthcare (firm), 82, 91
Gelsinger, Jesse, 44n
GenBank (public DNA database), 18n,42
gene(s)
alleles of, 4n
codons, 254–55
expression of, 142
patents on, 117–18, 214–18
spliced, 258
GeneChip technology, 58, 113, 144
Gene Journal, 56, 57
Gene Logic, 142, 143–44
Gene Sherpas (blog), 9n
gene therapy, 44n
genetic counseling, 8, 62–67
for author, 150–54, 192, 213
genetic discrimination, 3–5, 25, 124, 220–21, 261–62
Genetic Information Nondiscrimination Act (GINA), 4, 25–26, 33, 233, 275
Genetics and Public Policy Center, 39
genetic testing, 28. See also medical genomics; personal genomics
for ancestry, 268–74
for APOE gene (Alzheimer’s) (see APOE gene)
for drug response, 199–201 (see also<
br />
pharmacogenomics)
of employees, 3–4
by individuals for family conditions, 169–88
personal utility and, 207–8
by U.S. military, 4, 124
Genome Analyzer, 243, 245, 249
“Genome Commons,” 73
GenomeHacker.com, 53
genome hacking, 19–21, 53
Genome Technology, 18
genome-wide association studies (GWAS), 58, 143, 241–43
genomics, 7. See also medical genomics; Human Genome Project (HGP);
Personal Genome Project (PGP);
personal genomics Genomics Healthcare Strategies (firm), 114
Genomic Technology Prize, 83
genotype-phenotype relationship, 12–13, 21, 122, 144, 145
Gibbs, Richard, 42
Gilbert, Walter, 17, 80
Gill-Garrison, Rosalynn, as Personal Genome Project subject, 120–23, 206, 263
GINA. See Genetic Information Nondiscrimination Act glaucoma, 151
Goldstein, David, 240–44, 247
author’s genome sequencing and role of, 239–51, 263–67
Goldstein, Rebecca, 111
Goodhead, Ian, 85, 87
Google (firm), 59, 60, 162
Gore, Al, 63
Government Accountability Office (GAO), 121
Graves’ disease, 151
Greely, Hank, 2, 36–37
Green, Robert, 26
on personal genomics and longterm care insurance, 220n
work at Personal Genome Project, 155–57, 163, 165, 207
Greene, Brian, 233
Griffith, Linda, 125
Gulcher, Jeff, 69, 72, 73
GWAS. See genome-wide association studies
Halamka, John, as Personal Genome Project subject, 10–12, 37–38, 206, 210
Halperin, Eran, 62
Hane, Lisa, 176, 177, 182–84
HapMap, 24–25
Harmon, Amy, 190
Harris, Tim, 90–91, 96, 197
Harvard Medical School Institutional Review Board, 22–23, 38, 160
Helicos BioSciences (firm), 117
DNA sequencing by, 88–97, 193, 195–99
HeliScope DNA sequencer, 93–97, 193
hemochromatosis, 172–73, 175
hemophilia, 243, 254–55
Henderson, Gail, ELSI evaluation of Personal Genome Project by, 164–66
Heywood, Jamie, 275
HFE gene, 172
HGP. See Human Genome Project (HGP)
Hirschsprung’s disease, 5–8, 31, 262–63
HiSeq 2000 DNA sequencer, 277
HIV infection, 241
Hoehe, Margret, 28
homopolymers, 87, 95
Hong, Linda, 249
Hood, Leroy, 91
Hudson, Kathy, 39, 232
Human Fertilisation & Embryology Authority, United Kingdom, 107
Human Gene/Environment/Trait Technology Center (HGETTC), 163
Human Gene Mutation Database, 256
Human Genetics Commission, UK, 122–23
human genome and genomics, 2–3. See
also personal genomics Human Genome Project (HGP), 13, 17–18, 39, 60, 81–82, 135, 143, 193, 226, 251
Huntington’s disease, 27
hypertrophic cardiomyopathy (HCM), 259
identification of individuals
genome hacking and, 19–20
sperm donation and, 105–10
Ignite Institute, 281
Illumina (firm), 45, 89, 92, 95, 96, 133, 183, 193, 224, 225, 243, 261, 273, 275, 276. See also Genome Analyzer; Solexa (firm)
imputation, 62
individual legal rights and genomics, 33–37
induced pluripotency, 130
infectious disease, 241
Institutional Review Boards, 2–23, 22n, 38, 75, 244
insurance, long-term care, 220–21
intellectual property rights, genes and, 117–18
Intelligent Bio-Systems (firm), 97
Invitrogen, 225
Ion Torrent DNA sequencer, 88
io9.com, 170
J. Craig Venter Science Foundation, 83
Jewish genomics, 23, 32n, 191, 211, 212, 213, 218, 240–41, 260–61, 264, 274
Kessler, Lisa, 213–14
Keyserling, Hermann Alexander, 221
Khoury, Muin, 70
King, Mary-Claire, 191–92, 265
Kittles, Rick, 123–24, 268–69, 272, 273
Kleiner Perkins (firm), 62
Knome (firm), 69, 75–76, 118, 168, 267, 273–74, 276–77
Kohane, Isaac “Zak,” 21
Korlach, Jonas, 230
Kramer, Ryan, 105, 108
Kramer, Wendy, 105
Kurtz, Steve, 173–74
Kwon-Casado, Un, 95, 96, 97
LabCorp (firm), 120
Lacks, Henrietta, and HeLa cells, 124
Lander, Eric, 82, 90, 269
Lapidus, Stan, 88–94, 96
as Personal Genome Project subject, 117–20, 206, 208
Lauffenburger, Douglas, 124, 125
Lawrence Berkeley National Laboratory, 3
Leavitt, Mike, 72
Leerink-Swann (firm), 95, 198
Lehrach, Hans, 142
Lennon, Greg, 140, 142–46
Lesko, Larry, 115–16
Levin, Elissa, 62–64, 150, 192
Life Technologies (firm), 225
LightSpeed Genomics (firm), 84
lineage markers, 270
linkage disequilibrium, 139
Linney, Kristen, 244
Loehr, Andrea, 267
Loeys, Bart, 178
Loeys-Dietz syndrome, 178–79, 186
Lombardi, Steve, 82, 92–93, 95, 96, 196, 198
Lott, Eric, 271–72
Lou Gehrig’s disease, 6, 27, 74–75
Lowy, Ron, 196, 198
Lunshof, Jeantine, 24, 165
lupus, 151
McCarthy, Kevin, 136, 195
McDermott, Deb, 65
McDonald, Henry Stewart, III, 15–16
McGuire, Amy, 36, 43, 44, 137, 138, 221
McInerney, Joe, 232
McKernan, Kevin, 193–94
McKusick, Victor, 144–45, 175, 178
McPhail, Steve, 196
macular degeneration, 151
Marfan syndrome, 176–82, 185, 186
Martin, Hugh, 229
Massachusetts Institute of Technology (MIT), tenure dispute with James Sherley, 124–29
Matise, Tara, 64, 77
Maxam, Allan, 17, 80
Maxey, Kirk, 118
as Personal Genome Project subject, 102–10, 206
Max Planck Institute, 28, 194
Medco (firm), 116n
medical genomics, 14, 21, 28, 29–30, 61, 241–43
F. Collins on, 235–36
criticism of, and resistance to, 69–72, 153
disease risk and (see disease risk)
genetic tests created by individuals, 169–88
nutrition and, 121–23
pharmaceuticals and, 115–16, 142, 199–201
MegaBACE DNA sequencer, 82
metabolic syndrome, 151–52
microarrays, 92, 142–43
Milewicz, Dianna, 185, 186, 187
mitochondrial DNA, 57, 241, 270
Molecular and Genomic Imaging Center, 157, 158
Molecular Dynamics, 82
Monitor 360, 173
Mullis, Kary, 89
multiple sclerosis, 151, 203, 242
Murphy, Steve, 69n
Mycellf Program, 123
MyDaughtersDNA.org, 187
myocardial infarction, 151
myostatin protein, 179, 180
Myriad Genetics (firm), 191
legal challenge to gene patents held by, 214–18
National Center for Biotechnology Information, 139
National Endowment for Democracy, 99, 100
National Heart, Lung and Blood Institute, 161
N
ational Human Genome Research Institute (NHGRI), 23–24, 39, 72, 83, 157, 159, 160, 162, 167, 168, 233
National Institutes of Health (NIH), 126, 138, 237
decisions on genomics funding by, 19, 157–59, 163, 166–68
security at, 160–62
National Marfan Foundation Annual Conference, 185–86
National Office on Public Health Genomics, CDC, 70
Nature (periodical), 39, 67
Navigenics (firm), 55n, 56n, 69, 92, 122, 141, 168, 281, 282
author’s Health Compass Profile from, 150–54, 204, 257
history, services of, 60–68, 73, 76
Need, Anna, 247
Ness, Marilyn, 189, 201, 202
New England Journal of Medicine, 70, 73
Nieto, Augie, 74–75
Nurse, Paul, 234
Nusbaum, Chad, 40, 87, 97, 165, 166, 194, 195, 197, 229
nutrigenomics, 120–23
obesity, 151
OCA2 (oculocutaneous albinism)
gene, 262–63
Olson, Maynard, 277
1000 Genomes Project, 21
Online Mendelian Inheritance in Man (OMIM), 144–45, 256, 257
open consent, 21–22, 27
Oppenheimer, Robert, 118
osteoarthritis, 152, 153
ovarian hyperstimulation syndrome, 203
OvaSure test, 120
Pacific Biosciences (firm), 97, 133, 229–32
Pacific Growth Equities (firm), 95
Paget-Schroetter syndrome, 199
Parkinson’s disease, 59
paternity and nonpaternity, genomics and, 25
Pathway Genomics (firm), 63, 282
PCR (polymerase chain reaction), 89–90, 170–72, 180, 248
PerkinElmer (firm), 82
Perlegen (firm), 57, 58, 59
Personal Genome: Genomics as a Medical Tool and Lifestyle Choice (blog), 53
Personal Genome Project (PGP), 2, 12–13, 19, 22–28, 39, 49–51, 69, 84, 129–30, 131, 134, 218. See also Church, George
author as subject of, 29–33, 38–39, 204–5, 209–11, 239–40
K. Batchelder as subject of, 113–16, 206
G. Church as subject of, 22, 202–4
consent issue and, 21–28
criticism of, 39–40
E. Dyson as subject of, 99–102, 206
ethical, legal, and social issues,
and evaluation of, 24–25, 27–28, 164–66
funding for, 19, 157–58, 162–63, 166–68, 279–80
H. Gates and, 273
R. Gill as subject of, 120–23, 206
R. Green on team of, 156–57
J. Halamka as subject of, 10–12, 206, 210
S. Lapidus as subject of, 117–20, 206, 208
K. Maxey as subject of, 102–10, 206
meetings of participants in, 189–91, 201–11
S. Pinker as subject of, 110–13, 206, 207, 209
privacy and confidentiality issues related to, 19–28, 33–36, 106–10, 117, 158–59
redaction opportunities, 208
J. Sherley as subject of, 123–32, 206, 207
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