Here Is a Human Being (47 page)

12.
J. Kaiser, “Biotechnology. Bankruptcy won’t stop decode, says its founder, Stefansson,”
Science,
2009, 326(5957): 1172.

13.
M. Carmichael, “The world’s most successful failure,”
Newsweek,
February 12, 2010.

14.
http://www.techcrunch.com/2009/10/29/layoffs-confirmed-at-23andme/.

15.
B. Japsen and S. M. Jones, “Walgreens postpones carrying Pathway Genomics genetic test kit,”
Los Angeles Times,
May 13, 2010.

16.
http://energycommerce.house.gov/index.php?option=com_content&view=article&id+2009:committee-investigates-personal-genetic-testing-kits&catid=12:media-advisories&Itemid=55.

17.
http://www.techcrunch.com/2009/12/23/23andme-funding/.

18.
Email from George Church, September 7, 2009.

19.
G. M. Church, “Genomes for all,”
Scientific American,
2006, 294(1): 46–54.

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ABCB1 gene, 245–46

Advances in Genome Biology and

Technology meetings, Marco Island, Florida, 78–79, 84, 87, 98, 133–37, 192, 229

Afeyan, Noubar, 91

Affymetrix (firm), 57, 58, 59, 92, 113, 144, 150, 204

Agencourt Personal Genomics (firm), 94, 193, 194, 197

albinism, 262–63

alpha-1-antitrypsin deficiency, 237

Alpha-1 Association, 237

Altshuler, David, 269

Alzheimer’s disease, 4, 61–62, 138, 150–51, 155–57, 207.
See also
APOE gene

American Association of Tissue Banks, 106

American Civil Liberties Union, gene patenting lawsuit, 216–17

American College of Medical Genetics, 63

Amersham (firm), 82, 91

amyotropic lateral sclerosis (Lou Gehrig’s disease), 6, 27, 74–75

ancestry, genetic testing for, 268–74

Andrews, Lori, 35

Angrist, Misha (author), 1–2

M. Cariaso report on genomic data of, 146–49, 245, 257

genetic testing of, by DNA Direct and 23andMe, 211–14, 257, 264

genomic findings on disease risk and drug response of, 5–8, 32
n,
141–42, 148–49, 150–54, 204–5, 211, 212–14, 221, 245–47, 254–55, 262–67

Health Compass Profile from Navigenics for, 150–54, 204

mother’s breast cancer, 32n, 190–92, 212, 213, 263–65

participation in Personal Genome Project by, 2–5, 29–33, 38–39, 204–5, 209–11, 239–40, 260–63, 274–78, 282–83

personal genome sequencing of, by D. Goldstein and K. Shianna lab, 239–59, 263–67

study of Hirschsprung’s disease by, and nephew Jesse, 5–8, 262–63

Angrist, Noam (author’s nephew), 199, 245

Annas, George, 25, 26

anonymity.
See
privacy and confidentiality issues, genomics and APOE gene, 4, 77, 155–57, 208.

See also
Alzheimer’s disease author’s, 150–51

S. Pinker’s, 113, 157

J. Watson’s, 27
n,
41, 47, 48, 52, 138–40, 157, 209

apolipoprotein E.
See
APOE gene Applied Biosystems (ABI), 79, 82–83, 87, 89, 92, 135, 193, 225

Archon X Prize, 83–84, 224, 229

Argonne National Laboratory, 226

Ashburner, Michael, 39

Augie’s Quest (foundation), 74

Aull, Kay, human genetic testing by, 169–75

automated imaging, 91

autosomal markers, 270

Avey, Linda, 56
n,
57–60, 69, 70, 72, 73, 75, 113, 214, 216, 233, 281

Bard, Terry, 22–23, 160, 260–61

Batchelder, Keith, as Personal Genome Project subject, 113–16, 206

Bayesian probability, 212
n

Beals, Rodney, 177

Beals-Hecht syndrome, 177

Beijing Genomics Institute, 277
n

Biesecker, Les, 160–61

biohacking, 170–71, 173

biological measurement, 94

BioLogos Foundation, 44

Biology of Genomes meeting, Cold Spring Harbor Laboratory (CSHL), 40–41, 44–49, 70, 191, 232

BioWeatherMap, 174

Bobe, Jason, 53, 77, 163, 165, 174

Boston Biomedical Research Institute, 128–29

BRCA1 and BRCA2 gene mutations, 4–5, 32n, 65, 118, 118n, 120, 191, 213, 214, 216, 218, 263–65

gene patents on, 213, 214–18

brain-derived neurotrophic factor (BDNF), 246–47

Brand, Stewart, 71

Breast Cancer Information Core (BIC), 264–65

Brenner, Steve, 72–73

Brin, Sergey, 57, 59

breast cancer, 4–5, 32
n,
190–92, 212, 213, 263–65.
See also
BRCA1 and BRCA2 gene mutations

Brugada syndrome, 201

Burke, Wylie, 208

Burlington Northern Santa Fe Railway, 3

Bush, George W., 4, 125

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, 12\14, 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), 74–75
n

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), 183–84
n

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, 183–84
n

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, 44
n

GenBank (public DNA database), 18n,42

gene(s)

alleles of, 4
n

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, 44
n

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

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, 220
n

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