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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Assessing Genetic Risks: Implications for Health and Social Policy 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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Assessing Genetic Risks: Implications for Health and Social Policy 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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Assessing Genetic Risks: Implications for Health and Social Policy 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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Assessing Genetic Risks: Implications for Health and Social Policy 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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Assessing Genetic Risks: Implications for Health and Social Policy 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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Assessing Genetic Risks: Implications for Health and Social Policy 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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Assessing Genetic Risks: Implications for Health and Social Policy 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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Assessing Genetic Risks: Implications for Health and Social Policy 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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Assessing Genetic Risks: Implications for Health and Social Policy 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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Assessing Genetic Risks: Implications for Health and Social Policy 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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Assessing Genetic Risks: Implications for Health and Social Policy 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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Assessing Genetic Risks: Implications for Health and Social Policy 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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Assessing Genetic Risks: Implications for Health and Social Policy 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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Assessing Genetic Risks: Implications for Health and Social Policy 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