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From page 325... ... . 1agnosls 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 Index 325 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) Read the entire page →
From page 326... ... , 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 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) Read the entire page →
From page 327... ... , 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, 303304 interactive, 15, 18, 173, 230, 303-304 327 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, 910, 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, 4748, 132-133, 142, 235 neonatal, 6, 100 and quality assurance programs, 123124, 133 Council of Regional Networks for Genetic Services (CORN) Read the entire page →
From page 328... ... , 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 INDEX 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 Read the entire page →
From page 329... ... Program, 3, 28, 157, 212, 230, 234, 292, 298 IRE 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, 165166, 172, 255, 258, 264-267 see also Autonomy issues; Confidentiality and disclosure; Equity issues; Privacy issues 329 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, 165166, 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, 234245, see also Insurance coverage and reimbursement Fluorescence in situ hybridization (FISH) Read the entire page →
From page 330... ... , 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, 191192, 291 see also Ethical, Legal, and Social Implications (ELSI) Read the entire page →
From page 331... ... , 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, 116-117, 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 Read the entire page →
From page 332... ... ; 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, 9499, 105, 107, 117 Multiplex testing, 2, 27, 46, 102 autonomy issues, 27, 259, 275-276 Read the entire page →
From page 333... ... , 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, 122123, 124 333 National Voluntary Biochemical Genetics Laboratory Proficiency Testing Program, 122 Native Americans, 159 Nature versus nurture argument, 17, 186 Neural tube defects (NTDs) Read the entire page →
From page 334... ... , 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 INDEX 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) Read the entire page →
From page 335... ... INDEX 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, 216223, 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, 223224, 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, 132133, 140-141, 142 335 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, 1618, 52, 185-198 basic genetics concepts, 17, 186, 187188, 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, 132133 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 Read the entire page →
From page 336... ... 336 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, 155156 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, 295296 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 INDEX 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, 4547, 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 Read the entire page →
From page 337... ... � ~ carrier screening, / 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, 243244 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, 254255 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 337 T Tay-Sachs disease, 61, 71, 75, 121 screening and testing programs, 39, 4244, 73, 122-123, 161, 164 Teachable moment, 15, 150, 165, 173; see also Couns,eling 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, 16~161 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 . Read the entire page →
From page 338... ... 338 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 INDEX 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) Read the entire page →

From page 325...

... . 1agnosls 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 Index 325 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)

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From page 326...

... , 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 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)

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From page 327...

... , 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, 303304 interactive, 15, 18, 173, 230, 303-304 327 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, 910, 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, 4748, 132-133, 142, 235 neonatal, 6, 100 and quality assurance programs, 123124, 133 Council of Regional Networks for Genetic Services (CORN)

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... , 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 INDEX 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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From page 329...

... Program, 3, 28, 157, 212, 230, 234, 292, 298 IRE 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, 165166, 172, 255, 258, 264-267 see also Autonomy issues; Confidentiality and disclosure; Equity issues; Privacy issues 329 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, 165166, 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, 234245, see also Insurance coverage and reimbursement Fluorescence in situ hybridization (FISH)

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From page 330...

... , 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, 191192, 291 see also Ethical, Legal, and Social Implications (ELSI)

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... , 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, 116-117, 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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From page 332...

... ; 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, 9499, 105, 107, 117 Multiplex testing, 2, 27, 46, 102 autonomy issues, 27, 259, 275-276

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From page 333...

... , 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, 122123, 124 333 National Voluntary Biochemical Genetics Laboratory Proficiency Testing Program, 122 Native Americans, 159 Nature versus nurture argument, 17, 186 Neural tube defects (NTDs)

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From page 334...

... , 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 INDEX 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)

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From page 335...

... INDEX 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, 216223, 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, 223224, 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, 132133, 140-141, 142 335 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, 1618, 52, 185-198 basic genetics concepts, 17, 186, 187188, 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, 132133 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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From page 336...

... 336 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, 155156 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, 295296 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 INDEX 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, 4547, 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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From page 337...

... � ~ carrier screening, / 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, 243244 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, 254255 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 337 T Tay-Sachs disease, 61, 71, 75, 121 screening and testing programs, 39, 4244, 73, 122-123, 161, 164 Teachable moment, 15, 150, 165, 173; see also Couns,eling 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, 16~161 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 .

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From page 338...

... 338 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 INDEX 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)

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Index Pages 325-338

Index
Pages 325-338