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Suggested Citation:"Index." Institute of Medicine. 1994. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: The National Academies Press. doi: 10.17226/2057.
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Index

A

Abortion, 11, 34, 54, 78, 80, 84-85, 104, 137, 166-168, 171, 177, 193

and carrier testing, 7, 73

and sex selection, 8, 27, 105, 296

spontaneous, 31

see also Prenatal diagnosis

Academic research and testing services, 2, 48, 117

investigational device use, 13, 132, 142

regulation, 13, 126-127, 132, 138-139, 237-238

Access to services, 20, 29-30, 51, 234

see also Equity issues

Financing of testing services

Accuracy of tests, 2, 38, 47

laboratory quality assurance, 116-117, 133

prenatal diagnosis, 7, 104

Adoption, 47, 71, 297

Adrenal hyperplasia, 5, 68-69

Advisors and advisory bodies, 142

FDA, 13, 142, 143

national, 25, 107, 291, 292-294, 301

state, 26, 51, 101, 294

African Americans, 40-41, 71, 96, 159

Age for testing, 51-52

of children, 10, 27, 51, 297

Agency for Health Care Policy and Research, 291

Alcoholism, 99

Allelic diversity and heterogeneity, 37-38, 62

Allelic expansion, 63

Allergies, 62

Alliance of Genetic Support Groups, 14, 141, 156-157, 172, 244, 292

informed consent guidelines, 14, 141, 178

Alzheimer disease, 8, 29, 34, 86, 87

American Academy of Pediatrics, 25, 50, 291

American Association of Blood Banks, 121

American Board of Medical Genetics (ABMG), 206, 207, 208, 213-215

American Board of Medical Specialties (ABMS), 214, 240, 245

American College of Medical Genetics (ACMG), 121, 127, 214, 240, 245, 291

American College of Obstetricians and Gynecologists (ACOG), 25, 50, 75, 79, 223-224

American College of Physicians (ACP), 220, 230, 304

Suggested Citation:"Index." Institute of Medicine. 1994. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: The National Academies Press. doi: 10.17226/2057.
×

American Medical Association (AMA), 214, 240, 245

American Society for Histocompatibility and Immunogenetics, 121

American Society of Human Genetics (ASHG), 23, 25, 50, 74, 79, 121, 204, 218, 223-224, 228, 264, 291

informed consent guidelines, 14, 141, 172

Americans with Disabilities Act (ADA), 24, 272-273, 281, 282

Amniocentesis, 34, 35, 46, 73, 76, 78, 81, 83

Amyotrophic lateral sclerosis, 86

Analytic sensitivity of tests, 37, 139

Anencephaly, 79

Aneuploidy, 36

Animal models, 31

Anticipation, 63

Anxiety, 83, 104, 151

Appropriateness of tests, 9, 25, 27, 49-50

Asian and Pacific Islanders, 159

Association of American Medical Colleges (AAMC), 218

Association of Cytogenetic Technologists (ACT), 215-216

Association of Professors of Gynecology and Obstetrics, 220

Autonomy issues, 3, 14, 21, 23, 52-53, 54, 85, 149, 154, 160, 162, 171, 189, 247, 248-249, 259-260, 274-275

in multiplex testing, 27, 259, 275-276

reproductive decisions, 15, 19, 53, 103, 155-156

Autosomal dominant disorders, 61, 88, 91

Autosomal recessive disorders, 7, 61

carrier screening, 6, 7, 35, 70-74, 102

newborn screening, 6, 67

B

Behavioral modification, 45, 169

Biochemical genetics and analysis, 12, 59, 63, 75, 122, 138

carrier testing, 71

and false diagnoses, 66

Biological Sciences Curriculum Study (BSCS), 191

Biotinidase deficiency

screening programs, 5, 68-69

Birth defects, 34, 45-46, 75, 79

Blindness, 62, 63

Blood samples, 34

Breast cancer, 92, 93, 177

British Medical Association, 86

C

California, 120, 124, 168, 215

newborn and MSAFP screening, 120, 124, 168

sickle cell aide training, 215

Canadian College of Medical Genetics, 215

Canadian Royal Commission on New Reproductive Technologies, 86

Cancer, 1, 8, 29, 34, 63

predictive tests, 9, 36, 45, 87, 92-94, 96-97, 106, 107, 177, 238

Cardiovascular diseases, see Coronary artery disease;

Heart disease;

Hypertension (high blood pressure)

Carrier status, 2, 6-7, 23, 24, 37, 61, 70-74, 101-102, 148

counseling, 7, 101, 102, 163-166, 175-176

discovery by prenatal diagnosis, 27, 295

minors screened for, 7, 10, 102

and newborn screening, 6, 67, 70, 100, 162-163, 174-175

and prenatal testing, 7, 73, 75, 103, 176

Centers for Disease Control and Prevention (CDC), 124, 125, 291

lab proficiency testing programs, 12, 42, 121, 123, 133, 138

Central laboratories, 47, 48, 126-127, 299

for rare disorder testing, 12, 48, 127, 138

Certification and licensing

of laboratories, 11, 118, 124-126, 137

for rare disorder testing, 12, 127, 138

of specialists, 206, 207, 208, 2 13-216

Chevra Dor Yeshorim Program, 43

Suggested Citation:"Index." Institute of Medicine. 1994. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: The National Academies Press. doi: 10.17226/2057.
×

Childhood diseases, 10, 65

Children and minors, 10, 260

appropriate age for testing, 10, 27, 51, 297

carrier screening, 7, 10, 102

see also Newborn screening

Cholesterol, 45, 51, 62, 91

Chorionic villus sampling (CVS), 35, 37, 46, 73, 76-77, 78

Chromosomal abnormalities and analysis, 36, 46, 60, 63, 75, 166

Chromosomal siting, see Gene mapping and linkage

Civilian Health and Medical Program of the Uniformed Services (CHAMPUS), 243

Clinical Chemistry and Toxicology Devices Panel of Experts, 142

Clinical genetics, creation of specialty, 12, 138

Clinical Laboratory Improvement Act of 1967 (CLIA67), 121, 124

Clinical Laboratory Improvement Advisory Council, 143

Clinical Laboratory Improvement Amendments of 1988 (CLIA88), 11,12-13, 124-127, 136, 137, 141, 142, 143, 237, 274

high-complexity classification under, 12, 125-126, 138

research laboratory regulation, 13, 139

Clinical sensitivity, 37, 139

Clinical trials, 26, 131

Cloning, 29, 30, 31

College of American Pathologists (CAP), 121, 122, 291

Colon cancer, 31, 34, 36, 92, 96, 97, 177

Commercial testing services, 2, 10, 13, 27, 48, 50, 107, 117, 127, 134-135

investigational device use, 13, 142

Community-based genetics education, 2, 14, 16-18, 52, 185-198

Complex causation, see Multifactorial disorders

Computer systems for education, 18, 303-304

interactive, 15, 18, 173, 230, 303-304

Confidentiality and disclosure, 2, 3, 10, 14, 21, 22-24, 52, 53, 151, 157, 172, 247, 250-252, 264-273, 279-280;

see also DNA data and data banking

mental disorders predictive testing, 9-10, 106

misattributed paternity, 6, 23, 100, 127, 163, 175

necessary breaches, 15-16, 22, 23, 53, 165-166, 172, 255, 264-267

sickle cell screening programs, 41

Confirmatory testing

for investigational devices, 131-132

newborn screening, 5, 65-66, 99

for prenatal screening, 36, 80, 103-104

Conflicts of interest, 22, 48-49

Congenital hypothyroidism

screening programs, 5, 66, 68-69

Consent, see Informed consent

"Consumer's Guide to Genetic Testing," 18, 198

Continuing education programs, 20, 220, 223, 228-229

Contraception, 71

Conventional therapies, 29

Coronary artery disease, 1, 34, 51, 62, 91

predictive tests, 9, 94-95

Cost-benefit analysis, 53, 153, 304

Cost-effectiveness analysis, 15, 28, 53, 153, 304-305

Costs of screening and testing, 4, 20, 47-48, 132-133, 142, 235

neonatal, 6, 100

and quality assurance programs, 123-124, 133

Council of Regional Networks for Genetic Services (CORN), 120-121, 127, 211, 215, 244, 291

Council on Resident Education in Obstetrics and Gynecology (CREOG), 218, 219, 221-222, 228

Counseling and client education, 1, 4, 10, 12, 14-16, 23, 65, 74, 146-178, 300, 302

carrier testing, 7, 101, 102, 163-166, 175-176

Suggested Citation:"Index." Institute of Medicine. 1994. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: The National Academies Press. doi: 10.17226/2057.
×

cultural and ethnic sensitivity, 16, 159-161, 174

innovative methods for, 15, 18, 173

misattributed paternity, 6, 163, 175

multiplex testing, 7, 27, 170, 177-178

newborn screening, 6, 67, 100, 101, 162-163, 174-175

predictive tests, 9, 106, 168-170, 177

prenatal diagnosis, 7, 8, 104, 166-168, 176-177

primary care provider role, 2, 14, 15, 19, 50, 149, 150, 173, 176

and public education, 16, 17, 163-164, 170

research needs, 15, 16, 18, 22, 164, 173-174, 300-302

for research participants, 26, 157

sickle cell screening programs, 41, 70

see also Directiveness and nondirectiveness;

Informed consent

Counselors, 12, 15-16, 50, 138, 149, 204, 208-213

continuing education, 220-223

training, 14, 15, 16, 19, 20, 173, 208-212, 228, 229

Crossing over, 64

Cultural perspectives and sensitivities, 151, 301

counseling issues, 16, 159-161, 174

and minority practitioners, 20, 161

and public education, 18, 195-196, 197

Current procedural terminology (CPT) codes, 214, 240, 245

Cystic fibrosis (CF), 31, 37, 61, 62, 64, 71, 73-74, 75, 149, 172

screening and testing, 5, 66-67, 68-69, 73-74, 129, 136, 163, 164, 204, 238, 240, 241

Cystic Fibrosis Foundation, 66

Cytogenetics, 12, 60, 121, 126, 215-216

prenatal testing, 21, 245

D

Data bases, 15

genetics curricula, 218

professional and support services, 12, 15, 138

Decisions and decision-making, see Autonomy issues

Directiveness and nondirectiveness

Informed consent

Policy decisions and issues

Reproductive planning and decisions

Dementias, 63

Depression, 83

Diabetes, 1, 34, 62

predictive tests, 9, 97-98

Dietary modification, 29

for coronary heart disease, 9, 87

and galactosemia, 70

hypercholesterolemia, 51

for PKU, 39-40, 66, 148

Direct DNA testing, 64, 235

Directiveness and nondirectiveness, 14, 15, 53, 107, 151-152, 154-156, 157, 171, 173

see also Counseling and client education professional training, 19, 229

Disabled persons, see Americans with Disabilities Act;

Persons with disabilities

Disclosure, see Confidentiality and disclosure

Counseling and client education

Informed consent

Risk information and perception

Discrimination issues, 2, 15, 30, 52, 195, 257-258

predictive tests, 9, 105

sickle cell screening, 41

see also Americans with Disabilities Act

Employment discrimination

Insurance discrimination

Diversity, see Genetic variability and heterogeneity

Tolerance of diversity and disability

DNA data and data banking, 46

confidentiality protection and breaches, 23, 46, 255-256, 264

DNA Learning Center (DNALC), 190

DNA probes, 30, 36

FDA regulation, 11, 13, 128, 141

Down syndrome, 75, 79, 80, 129, 132

Drug therapies, 29, 45

Duchenne muscular dystrophy, 61, 64, 71, 129

Suggested Citation:"Index." Institute of Medicine. 1994. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: The National Academies Press. doi: 10.17226/2057.
×

E

Education, see Counseling and client education

Professional education and training

Public education and outreach

Education discrimination, 30, 195

Effectiveness of tests, 2, 5, 11, 13, 14, 21-22, 30, 48, 128, 130-131, 136, 140-141, 142

carrier screening, 7, 102

see also Interpretation of Results

Laboratory Quality Assurance

Embryonic development, 31, 35

Employee Retirement Income Security Act (ERISA), 238-239, 281

Employer self-insurance, 238-239, 268;

see also Insurance coverage and reimbursement

Insurance discrimination

Employment discrimination, 2, 10, 24, 27, 30, 46, 154, 156, 188, 195, 271-273, 281-282

insurance claims, 20, 235

see also Americans with Disabilities Act

Environmental factors, 1, 34, 60, 62, 86-87

education on, 17, 186, 193

predictive testing, 8-9, 27, 38

Enzymes, 34

Epilepsy, 63

Equal Employment Opportunity Commission, 24, 269-273, 282

Equity issues, 3, 20, 21, 30, 47-48, 189, 234, 247, 252-254

Ethical, Legal, and Social Implications (ELSI) Program, 3, 28, 157 , 212, 230, 234, 292, 298

IRB guidance, 13, 141

public education initiatives, 17-18, 193-194, 197, 304

Ethical principles and standards, 2, 3-4, 52-54, 273-274

breaches of, 15-16, 21, 22, 23, 53, 165-166, 172, 255, 258, 264-267

see also Autonomy issues

Confidentiality and disclosure

Equity issues

Privacy issues

Ethnic and racial groups, 37, 61, 70-71, 159, 160-161, 164, 258

health care workers, 16, 20, 230

public education of, 17, 18, 197, 198

see also African Americans

Asian and Pacific Islanders

Cultural perspectives and sensitivities

Hispanic population

Jewish community

Mediterranean populations

Native Americans

Eugenics, 8, 15, 52, 54, 84, 103, 105, 152, 153, 154, 171, 295-296

and public education, 17, 192, 195

European Council of International Organizations of Medical Sciences (CIOMS), 85

Expectancies, 195

F

False-negative and false-positive diagnoses, 38-39, 117, 130, 156, 178n

Family history, 4, 7, 21, 35, 63, 65, 74, 75, 86, 103

Family members and relatives

disclosure to, 16, 23, 150, 151, 165-166, 172, 176, 265-267, 278-279

linkage studies, 26, 30-31, 34, 35, 38, 59, 64, 157, 235

Family practice, 19, 65

Federal Bureau of Investigation, 46

Federal government, 51, 244

approval of tests, 50

IRB guidance, 13-14, 141

laboratory regulation, 124-127

see also Human Genome Project

and under names of specific agencies

Fetal diagnosis, see Prenatal diagnosis

Financing of testing services, 20-21, 234-245,

see also Insurance coverage and reimbursement

Fluorescence in situ hybridization (FISH), 36, 81, 105

Follow-up, see Treatment and follow-up

Food and Drug Administration (FDA), 2, 291

Suggested Citation:"Index." Institute of Medicine. 1994. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: The National Academies Press. doi: 10.17226/2057.
×

advisors and advisory bodies, 13, 142, 143

premarket approval, 13, 14, 128-131, 132-133, 136, 139-140

regulation of testing products, 1 11, 13, 14, 79, 117, 128-133, 139, 141-143

Forensics, 46, 125, 254

Foundation for Blood Research, 122

Founder effect, 71

Fragile X syndrome, 61, 63, 71, 72, 102

Functioning status, 153

G

Galactosemia, 5, 45, 68-69, 70

Gamete donation, 71

Gene expression, 37, 38, 60

Gene mapping and linkage, 30-35

family studies, 26, 30-31, 34, 35, 38, 59, 64, 157, 235

see also Human Genome Project

Gene therapy, 29, 80, 150

Genetic centers, 12, 65, 138

Genetic drift, 71

Genetic education, see Counseling and client education

Public education and outreach

Genetic markers, 30-31

multiplex testing, 2, 59

see also Gene mapping and linkage

Genetic variability and heterogeneity, 6, 28, 30, 37, 38, 60, 61-62, 64, 100, 306-307

professional training, 19, 229

public education, 17, 186, 187, 192-193, 196

Genomic imprinting, 62

Geographic distribution, of services, 203

Germline mutations, 36, 60, 63

H

Hair samples, 34

Health belief model, 194-195

Health Care Financing Administration (HCFA), 138, 291

lab inspections and review, 11-12, 124-127, 138-139, 142

specialty and subspecialties creation, 12, 137, 138

see also Proficiency testing programs

Health insurance, see Insurance coverage and reimbursement;

Insurance discrimination

Health maintenance organizations (HMOs), 238

Heart disease, 1, 8, 34, 107

see also Coronary artery disease

Hemochromatosis, 62, 89-91, 102

Hemoglobinopathy

screening programs, 5, 68-69, 75

see also Sickle cell anemia

Thalassemia

Hemophilia, 61, 71, 75

Heterogeneity, see Genetic variability and heterogeneity

Heterozygotes, 61, 71, 102

High blood pressure, see Hypertension

High school settings, carrier screening in, 7, 102

Hispanic population, 159

Histidinemia, 67

HLA alleles, 98

Homocysteinuria, 5, 68-69

Homozygotes, 61

Human experimentation, 102

see also Research activities and participation

Human Genome Project (HGP). 1, 2, 9, 26, 31, 35, 67, 87, 185-186, 191-192, 291

see also Ethical, Legal, and Social Implications (ELSI) Program

Human immunodeficiency virus (HIV) infection, 98

Humanitarian device exemption, 14, 130-131, 141

Huntington disease, 31, 63, 64, 75, 86, 88

pilot projects quality assurance program, 123

testing for, 8, 87, 88-89, 121, 155

Hypercholesterolemia, 34, 45, 51, 91

Hyperlipidemic heart disease, 29

Hypertension (high blood pressure), 34, 62

predictive tests, 9, 95-96

Suggested Citation:"Index." Institute of Medicine. 1994. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: The National Academies Press. doi: 10.17226/2057.
×

I

Identifiers in samples, 6, 23, 101, 264

Iminoglycynuria, 67

Incentives, 195

Incomplete penetrance, 38, 64

Infectious diseases, 34, 98, 257-258

Informed consent, 2, 3, 4, 14, 15, 22, 51, 53, 149, 156-157, 162, 171-172, 274-275

carrier screening, 7, 101, 102

documentation, 156

investigational devices, 140-141

multiplex testing, 7, 27, 46

newborn blood spots research use, 6, 70, 101, 264

newborn screening, 5, 6, 51, 66, 70, 100

predictive testing, 22, 106

prenatal testing, 103, 104

research needs, 22, 300

Institutional review boards (IRBs), 13-14, 14, 66, 132, 141, 273-274

carrier screening, 7, 102

investigational testing protocols approval, 13-14, 131, 132, 141, 142

IRB Guidebook,13, 157

newborn blood spots research use, 6, 101

see also Research activities and participation

Insurance coverage and reimbursement, 20-21, 49, 203-204, 238-240

counseling, 15, 20, 104, 150, 204, 234-235, 236, 245

guidelines development, 21, 245

limitations, 20, 234-235, 236-238, 239-240

medically necessary procedures, 21, 239, 245

prenatal testing, 7, 104

reform, 24, 47-48, 234, 245

Insurance discrimination, 2, 10, 20, 24, 30, 46, 154, 195, 234, 235, 268-271, 281

Interactive video and computer systems, 15, 18, 173, 230, 303-304

International Huntington's Disease Association, 89

International Tay-Sachs Disease Quality Control Reference Standards and Data Collection Center, 11, 122-123, 124

Internists, 206

Interpretation of results, 11, 50, 127-128, 151

lab reports to physicians, 11-12, 127-128, 139, 168

prenatal tests, 79-80, 127

ultrasonography, 37

Investigational Device Exemptions (IDEs), 13, 131-132, 136, 141

Investigational devices, 12-14, 131-133, 136, 139-143, 274

inappropriate uses, 132-133

In vitro fertilization (IVF), 82

J

Jewish community, 39, 42-43, 71, 164

Johns Hopkins University School of Medicine, 126

K

Karyotyping, 36

L

Laboratory inspectors training, 12, 118, 126, 137

Laboratory personnel

confidentiality protection, 22

conflicts of interest, 48-49

training, 19, 136, 229

Laboratory quality assurance, 10-14, 48, 117-118, 136-139

errors, 116-1 17, 133

rare disorders, 12, 127

state regulation, 118, 120-121

voluntary programs, 11, 121-124, 137

Laboratory reports to physicians, 11-12, 127-128, 139

Language, use of, 16, 153-154, 161, 172

Late-onset disorders, 1, 8-10, 24, 27, 62, 65, 75, 86-99, 148

Suggested Citation:"Index." Institute of Medicine. 1994. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: The National Academies Press. doi: 10.17226/2057.
×

see also Predictive and presymptomatic testing

Law enforcement, 22

and DNA data banks, 46, 254, 264, 277-278

Leber optic atrophy, 63

Legal issues

autonomy, 248-249

confidentiality, 251-252

equity, 254

privacy, 250

Legislation

rare conditions test development, 14, 141

sickle cell anemia screening, 41

see also Americans with Disabilities Act;

Clinical Laboratory Improvement Amendments of 1988

Regulation

Safe Medical Device Amendments of 1990

State laws and regulations

Liability issues, 50-51, 277

prenatal diagnosis, 50, 79

Licensing, see Certification and licensing

Life insurance, discrimination, 20, 46, 280

Li-Fraumeni syndrome, 92, 94

Limitations of testing methods, see Accuracy of tests;

Reliability

of tests;

Sensitivity of tests

Linkage studies, see Family members and relatives;

Gene mapping and linkage

Low-income population, see Poverty and low income

M

Mandatory screening programs, 21, 136, 257

see also Voluntariness

newborns, 6, 21, 66-70, 100-101, 260-263

PKU, 39-40, 44, 66

sickle cell anemia, 41,44

Manic-depressive illness, 34, 99

Maple syrup urine disorder, 45

screening programs, 5, 68-69, 70

March of Dimes survey, 52, 188, 247

Maryland, lab regulation and standards, 120

Mass media, education role, 17-18, 52, 193-194, 198

Maternal age, and prenatal diagnosis, 7-8, 21, 63, 75, 166, 245

Maternal serum alpha-fetoprotein

(MSAFP) testing, 12, 21, 26, 36, 45-46, 75, 79-80, 103-104, 121, 122, 128, 129, 132, 168, 224

see also Prenatal diagnosis

Medicaid, 242-243

Medical Devices Act of 1976, 128

Medical education, see Professional education and training

Medicare, 125, 240-242

Mediterranean populations, 44, 71, 160-161

Mental disorders, 1, 34

predictive tests, 9-10, 99, 106

Mental retardation, 75

and galactosemia, 70

and PKU, 39-40, 66, 148

Metabolic disorders, 63

see also Phenylketonuria (PKU);

Sickle

cell anemia

Metabolites, 34

Military DNA sampling, 46, 254

Minorities, see Ethnic and racial groups

Minors, see Children and minors

Misattributed paternity, 6, 23, 38, 70, 100, 127, 163, 175

Mitochondrial disorders, 62-63

Molecular genetics, 12, 60, 63, 138

Monogenic (single-gene) disorders, 1, 29, 31, 34, 60-62

predictive tests, 8-9, 29, 38, 86, 87-93, 106-107, 116

Mosaicism, 36, 63

Mucosa, samples of, 34

Multifactorial disorders, 8-9, 34, 60, 62, 156, 193

employment discrimination, 24

predictive tests, 8-9, 35, 38, 86-87, 94-99, 105, 107, 117

Multiplex testing, 2, 27, 46, 102

autonomy issues, 27, 259, 275-276

Suggested Citation:"Index." Institute of Medicine. 1994. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: The National Academies Press. doi: 10.17226/2057.
×

counseling and client education, 7, 27, 170, 177-178

standards development, 26, 27, 297-298

Muscle diseases, 63

Muscular dystrophy, 85, 194

Myotonic dystrophy, 63

N

National Advisory Committee and Working Group on Genetic Testing,

recommended, 25, 107, 291, 292-294, 301

National Center for Human Genome Research (NCHGR), 74

see also Ethical, Legal, and Social Implications (ELSI) Program

National Certification Agency of Laboratory Personnel, 215

National Committee for Clinical Laboratory Standards, 121

National Heart, Lung, and Blood Institute, 41-42

National Human Genome Research Center, 132

National Institute of Child Health and Human Development, 74

National Institutes of Health (NIH), 18, 26, 66, 74, 294

National League of Nursing, 225

National Library of Medicine

data bases, 12, 138

professional education role, 20, 230

public information provision, 18, 138, 304

National Reference System for the Clinical Laboratory, 121

National Science Foundation, 18, 197

National Sickle Cell Anemia Control Act of 1972, 41

National Society of Genetic Counselors (NSGC), 23, 25, 157, 172, 208, 209, 212-213, 291

National Tay-Sachs Disease and Allied Disorders Association, Inc., 11, 122-123, 124

National Voluntary Biochemical Genetics Laboratory Proficiency Testing

Program, 122

Native Americans, 159

Nature versus nurture argument, 17, 186

Neural tube defects (NTDs), 46, 75, 79, 80, 85, 132

Neurofibromatosis, 31, 64

Newborn screening, 4, 4-6, 45, 49, 63, 65-70, 99-101, 133

benefit of, 5, 6, 47, 67, 99, 100

and carrier testing, 6-7, 67, 70, 100, 163-164, 174-175

confirmatory tests, 5, 65-66, 99

counseling issues, 6, 67, 100, 101, 163-164, 175-176

false-positive and false-negative diagnoses, 66, 67, 162

insurance reimbursement, 21, 237

mandatory and voluntary programs, 6, 21-22, 276-277

multiplex testing, 4-5, 67, 100

proficiency testing programs, 12, 137-138

stored sample testing and research, 4, 6, 101

treatment and follow-up, 5-6, 45, 99, 100

New England Regional Genetics Group, 122

New Jersey, lab regulation and standards, 120

New York State, mandatory lab standards, 118, 120, 138

Nondirectiveness, see Directiveness and nondirectiveness

North Carolina Biotechnology Center, 198n

Numerical risk, 16, 158, 174

Nurses, 166, 224-225

training, 19, 20, 50, 225, 226

O

OObstetrics and gynecology, 19, 65, 206, 218, 220, 221-222

see also Prenatal diagnosis

Suggested Citation:"Index." Institute of Medicine. 1994. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: The National Academies Press. doi: 10.17226/2057.
×

Office for Protection from Research Risks (OPRR), NIH, 13, 141, 157, 274

Off-label use, 129

see also Food and Drug Administration

Old-Order Amish family studies, 34

Optical memory cards, 255-256

Organization for Clinical Laboratory Genetics, 121

Orphan Drug Act, 14, 131, 141

Ovum testing, 36, 46

P

Pacific Northwest Region (PacNoRGG),

Council of Regional Networks for

Genetic Services, 120-121

Package inserts, 139

Panic disorders, 99

Part-time workers, 20

Paternity, see Misattributed paternity

Pediatrics and pediatricians, 19, 65, 206-207

Pedigree studies, 154, 157

see also Gene mapping and linkage

Percutaneous umbilical blood sampling (PUBS), 77, 78;

see also Prenatal diagnosis

Perfectibility, 26-27, 295-296

Persons with disabilities, 54, 153

public education role of, 18, 197

Phenotypes, 60

Phenylketonuria (PKU), 61, 149

screening and testing, 5, 39-40, 44, 66, 67, 68-69, 129, 148

Physicians, 65

and commercial services promotional activities, 50

directiveness and patient autonomy, 15, 149, 156, 171,255

liability issues, 50-51

see also Professional education and training;

Specialists

Pilot studies, 4, 5, 26, 28, 47, 49, 51, 100, 298-299

carrier screening, 102

cystic fibrosis screening, 74

investigational devices, 13, 142-143

Polar body analysis, 36

see also Preimplantation diagnosis

Policy decisions and issues

data needs, 25, 28, 117, 305-307

oversight, 25-26, 51, 290-295

research activities and participation, 26, 294-295

research needs for, 27-28, 298-305

role of public education, 17, 25, 195

Polycystic kidney disease (PKD), 62, 64, 86, 91-92, 159

Polymerase chain reaction (PCR), 35-36, 64, 116

Population-based screening programs, 4, 65, 102

late-onset diseases, 9, 27

newborns, 5, 100

Postmarket studies, 14, 131, 140, 141

see also Food and Drug Administration

Poverty and low income, 20, 30

Predictive and presymptomatic testing, 8-10, 14, 27, 29, 62, 86-87 , 105-107, 139, 140

cancer, 9, 36, 45, 87, 92-94, 96-97, 106, 107, 177, 238

of children, 10, 27, 106

counseling issues, 9, 15, 106-107, 168-170, 177

psychosocial effects, 9, 10, 27, 177

standards development, 26, 27, 296-297

Predisposition, see Susceptibility and predisposition

Preimplantation diagnosis, 35-36, 46, 80, 82

see also Prenatal diagnosis

Premarket approval (PMA) process, 13, 128-131, 132, 136, 139-140

rare disorder tests, 14, 131, 132-133

see also Food and Drug Administration

Prenatal diagnosis, 7-8, 8, 12, 14, 34-37, 59, 65, 75-86, 103-105, 161, 177, 224

see also Amniocentesis;

Chorionic villus sampling

carrier status discovery, 27, 295

counseling issues, 7, 8, 104, 166-168, 176-177

Suggested Citation:"Index." Institute of Medicine. 1994. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: The National Academies Press. doi: 10.17226/2057.
×

insurance reimbursement, 21, 236-237, 239

liability issues, 50, 79

sex selection, 8, 27, 85-86, 105, 296

standards development, 26-27, 295-296

testing quality issues, 137

Primary care providers, 2, 127, 149

see also Family practice

Nurses

Physicians

Privacy Commission of Canada, 85-86

Privacy issues, 2, 3, 14, 21, 23, 30, 47, 162, 247, 249-250

see also Autonomy issues

Confidentiality and disclosure

Probes, see DNA probes

Professional education and training, 2, 14, 18-20, 50, 106-107, 216-230

counseling, 14, 15, 16, 19, 20, 173, 208-212, 228, 229

lab inspectors, 12, 118, 126, 137

lab personnel, 19, 136, 229

mental health workers, 10, 106

minority practitioners, 16, 20, 230

nurses, 19, 20, 50, 225, 226

primary care providers, 19, 20, 216-223, 228-229, 299-300

public health professionals, 225-227

social workers, 19, 20, 50, 225, 226

specialists, 18-29, 204-208, 213-216, 228, 299-300

Professional groups, 13-14, 25, 172, 223-224, 291-292

designation of central labs, 12, 138

standards development, 27, 50, 105

see also under names of specific groups and societies

Professionals

see Counselors

Nurses

Physicians

Primary care providers

Professional education and training

Public health professionals

Social workers

Specialists

Proficiency testing programs, 11, 12, 118, 120-121, 121-123, 125-126 , 136, 137-138, 138, 139

Project Genethics, 191

Provisional premarket approval, 14, 132-133, 140-141, 142

Psychiatric diseases, see Mental disorders

Psychologists, training, 19

Psychosocial effects of testing, 14-15, 26, 147, 150-151, 169, 300-301

prenatal diagnosis, 8, 27, 103, 104, 177, 295

Publication of lab quality assessments, 11, 124

Public education and outreach, 2, 14, 16-18, 52, 185-198

basic genetics concepts, 17, 186, 187-188, 192-193, 195

and counseling, 16, 17, 163-164, 170

formal schooling, 16, 17, 18, 52, 186, 189-192, 196, 197-198

professionals' role in, 20, 196, 197

research needs, 17-18, 196, 302-303

sickle cell screening programs, 41, 44

Public health model, 194, 256-258

Public health professionals, 225-227

Public policy, see Policy decisions and issues

Q

Quality assurance, 2, 3-4, 48

laboratories, 117, 118-124, 139-143

newborn screening, 22, 101

predictive testing, 105

R

Race, see Ethnic and racial groups

Rare conditions testing, 12, 48, 118, 127, 138

FDA approval process, 14, 131, 132-133

Reagents, 117-118

FDA regulation, 11, 13, 128, 141

Recessive disorders, see Autosomal recessive disorders

X-linked recessive disorders

Recombinant DNA technology, 34-35, 36, 38, 116

Reduced penetrance, 62

Reductionist theories, 17, 19, 186

Suggested Citation:"Index." Institute of Medicine. 1994. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: The National Academies Press. doi: 10.17226/2057.
×

Referrals

for counseling, 7, 14, 149, 170, 173, 176

to specialists, 15, 227

training of referring professional, 19, 229

see also Conflicts of interest

Registries, see DNA data and data banking

Regulation, 2, 11, 74, 118

see also Certification and licensing

Clinical Laboratory Improvement Amendments of 1988

Premarket approval (PMA) process

Proficiency testing programs

Safe Medical Device Amendments of 1990

Relatives, see Family members and relatives

Reliability of tests, 9, 27, 37, 47, 48, 140

Reproductive planning and decisions, 4, 27, 29, 38, 45-46, 51-52, 116, 148, 150, 158, 169, 171

autonomy issues. 15, 19, 53, 103, 155-156

and carrier screening, 6-7, 52, 71, 73, 101, 102, 150, 163, 165, 169-170

and multifactorial disorders, 105

and newborn screening results, 6, 174

and prenatal testing, 8, 73, 83, 84-85, 103, 104, 148, 150, 166-167 , 295-296

see also Abortion

Research activities and participation, 26, 45, 46-47, 254, 277

confidentiality protection, 6, 22, 23-24

laboratory regulation, 13, 126-127, 132, 138-139

newborn blood spots use, 6, 70, 101, 264

Retinitis pigmentosa, 62

Rheumatoid arthritis, 98

Risk information and perception, 22

and counseling, 16, 147, 149, 157-159, 162, 169, 173-174

public education, 17, 192

Royal College of Obstetricians, 86

Rural population, 30

S

Safe Medical Device Amendments of 1990, 14, 128, 130

Safety of tests, 5, 11, 13, 14, 30, 48, 50, 128, 130, 136, 140-141 , 142

carrier screening, 7, 102

Schizophrenia, 99

Screening programs, 1-2, 3, 4, 39-44, 45-47, 65

see also Newborn screening

Self-employment, 20

Sensitivities, see Cultural perspectives and sensitivities

Directiveness and nondirectiveness

Sensitivity of tests, 7, 21, 37, 74, 139, 156

newborn screening, 6, 101

PKU screening, 40, 44

predictive, 9, 27

prenatal, 7, 14, 78, 104

Severity of diseases, variability of, 38, 53, 64-65, 102, 117, 155

Sex chromosomes, 61

see also X-linked recessive disorders

Sex selection, 8, 27, 85-86, 105, 296

see also Abortion

Prenatal diagnosis

Sickle cell anemia, 35, 61, 64, 71

screening and testing, 39, 40-42, 43, 44, 66, 67, 73, 129, 163

Single-gene disorders, see Monogenic disorders

Skin biopsy, 34

Small business employees, 20

see also Insurance coverage and reimbursement

Social cognitive learning theory, 195

Social workers, 225

training, 19, 20, 50, 225, 226

Socioeconomic status, 159, 161

see also Poverty and low income

Somatic cell mutations, 36, 45, 60, 63, 96-97

Specialists, 2, 18, 65, 203-216, 227

training, 18-29, 204-208, 213-216, 228, 299-300

use of language, 153-154

Suggested Citation:"Index." Institute of Medicine. 1994. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: The National Academies Press. doi: 10.17226/2057.
×

Special Projects of Regional and National Significance (SPRANS), 244

Specificity of tests, 21, 139, 156

carrier screening, 7

neonatal, 101

predictive, 9, 27

prenatal, 7, 14, 104

see also Effectiveness of tests

Spina bifida, see Neural tube defects

Spinal bulbar muscular atrophy, 63

Sporadic mutations, 61

Standards of care, 26-27, 49, 50-51

counseling, 14-15, 149, 228

prenatal diagnosis, 7, 75, 104

State advisory bodies, 26, 51, 101, 294

State genetics services, 26, 39, 51, 243-244

newborn screening programs, 4, 5-6, 45, 66-70, 99, 162, 237

sickle cell anemia, 41

State health departments, 13, 49, 67

State laboratories, 134-135

investigational device regulatory

compliance, 13

proficiency testing, 12

State laws and regulations, 5, 24, 26, 101, 118, 119-121, 123-124

genetic information disclosure, 22, 254-255

sickle cell anemia screening, 41

Sterilization, 71

Stigmatization, 30, 47, 156, 160, 162, 195

of language, 16, 154, 160, 172, 193

predictive tests, 9, 105

and sickle cell screening, 41, 67

and Tay-Sachs screening, 42, 43

Support groups, 12, 25, 138, 151, 292

and public education efforts, 18, 197

see also Alliance of Genetic Support Groups

Survivor guilt, 147

Susceptibility and predisposition, 1, 2, 8, 62, 186

see also Predictive and presymptomatic testing

Risk information and perception

T

Tay-Sachs disease, 61, 71, 75, 121

screening and testing programs, 39, 42-44, 73, 122-123, 161, 164

Teachable moment, 15, 150, 165, 173

see also Counseling and client education

Technical Working Group on DNA Analysis Methods, 121

Tentative pregnancy, 83, 167

see also Prenatal diagnosis

Termination of pregnancy, see Abortion Terminology, 153-154

see also Language, use of

Test kits, 2, 117, 139

FDA regulation, 11, 129

Thalassemia, 35, 61, 64, 71, 160-161

screening programs, 39, 44, 164

see also Hemoglobinopathy

Tissue and fluid sampling, 34, 36, 37, 59, 64

Tolerance of diversity and disability, 18, 30, 54, 186, 196, 197

see also Discrimination issues

Tourette syndrome, 99

Training, see Professional education and training

Treatment and follow-up, 29, 34, 38, 49, 53, 87, 149

counseling and disclosure, 6, 9, 15, 22, 150-151, 155, 171

lag behind diagnostic capability, 1, 8, 38

mental disorders, 10, 106

newborn screening, 5-6, 45, 99, 100

and predictive tests, 9, 27, 105, 106

and prenatal diagnosis, 34-35, 38

Triple-marker testing, 36, 80, 105

see also Prenatal diagnosis

Trisomy, 36, 75, 80

Tyrosinemia

screening programs, 5, 68-69

U

Ultrasonography, 36-37, 77-78

see also Prenatal diagnosis

Suggested Citation:"Index." Institute of Medicine. 1994. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: The National Academies Press. doi: 10.17226/2057.
×

Uniparental disomy, 62

University of Kansas Medical Center, 191-192

V

Validity of tests, 25, 48, 50, 130, 136, 140

predictive, 9, 105-106

prenatal screening, 105, 130

see also Effectiveness of tests

Variability, see Genetic variability and heterogeneity

Variable expressivity, 38, 62, 64, 117

Voluntariness, 3, 21-22, 151, 259-260, 276-278

carrier screening, 7, 101, 102

newborn screening, 6, 21-22, 276-277

prenatal testing, 104

see also Autonomy issues

Informed consent

W

White blood cells. 37, 64

Wilson disease, 129

Women

prenatal diagnosis impacts on, 8, 27, 103, 104, 177, 295

and public education efforts, 18, 197

World Federation of Neurology Research Group on Huntington's Disease, 89

X

X-linked dominant disorders, 61

X-linked recessive disorders, 7, 34, 61, 71, 85, 105, 161

Y

Young adults

carrier screening, 7, 102

Z

Zero-error tolerance (laboratory testing), 2, 11, 137, 299

Suggested Citation:"Index." Institute of Medicine. 1994. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: The National Academies Press. doi: 10.17226/2057.
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Assessing Genetic Risks: Implications for Health and Social Policy Get This Book
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Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening.

Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered:

  • Quality control in genetic testing.
  • Appropriate roles for public agencies, private health practitioners, and laboratories.
  • Value-neutral education and counseling for persons considering testing.
  • Use of test results in insurance, employment, and other settings.
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