Here Is a Human Being (48 page)

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, 22
n,
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, 69
n

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

National 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

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), 116
n

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, 126
n

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, 118
n,
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