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Assessing Genetic Risks: Implications for Health and Social Policy
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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