JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

Index

Abortion: Achondroplasia, risk assessment for, abnormal prenatal test results, information 347Ð348 options on, 212 Actuarial fairness, genetic discrimination in Canadian laws on, 205Ð206 health insurance, 161Ð162 United States laws on, 204Ð205 Addiction, “genetic predisposition” wrongful abortion claims, 116Ð117 theory, 234Ð236 Absolute risk, defined, 361 Adolescents, genetic susceptibility testing Accessibility problems: in, 279Ð280 abortion laws and, 204Ð206 Adoption studies: availability of genetic testing, 315Ð317 diagnostic genetics and wrongful adoption genetic innovation and protection of claims, 126Ð127 information and, 430Ð431 neurogenetics, 223Ð225 impact of gene patents on, 335Ð339 Adrenal hyperplasia, risk assessment, null prenatal genetic testing and alleles, 348Ð349 screening, 66Ð167, 193Ð194 Adult-onset hereditary disorders. See also disability resources, 213 Common chronic adult disease, informed consent barriers, 208Ð209 family history and genetic Accreditation standards: screening for diagnostic genetics, 109Ð110 Alzheimer’s disease, 226 for genetic counseling, 28Ð29 chromosome anomalies, 301Ð302 laboratories, 309Ð310 family history in, 92Ð93 psychological aspects of genetic genetic susceptibility testing, 116Ð117 counseling and testing and, preimplantation genetic diagnosis, ethical 60Ð61 issues, 200Ð201 Accuracy of testing, risk assessment psychological aspects of genetic and, 343Ð344 counseling and testing, 61Ð78 Acetylcholinesterase (AChE): ambiguous test results, guidelines open neural tube defect for, 71Ð72 diagnosis, 174Ð175 clinical implications of, 74Ð77 prenatal screening and diagnosis, 165, disclosure of result, posttest phase, 169 66Ð67

Genetic Testing: Care, Consent, and Liability,byNeil F. Sharpe and Ronald F. Carter C 2006 John Wiley & Sons, Inc.

567 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

568 Index

Adult-onset hereditary disorders Ambivalence concerning genetics, research (Continued ) on, 429Ð431 family reactions to, 72Ð73 Americans with Disabilities Act (ADA), negative test result, absence of genetic discrimination and, mutation, 70Ð71 153Ð154 positive test result for mutation, Aminoacidopathies, biochemical testing, 67Ð70 306Ð307 pretest counseling phase, 63Ð66 Amniocentesis: societal and ethical issues, 73Ð74 communication of results: testing process, 62Ð63 cultural factors for Latino patients, susceptibility testing, 282Ð285 31Ð32, 35Ð36 Adverse selection, health insurance miscommunications discrimination, 159Ð160 concerning, 32Ð37, 43Ð44 Aftercare procedures, communication of test trust and confidence issues in, 40Ð42 results, 379Ð380 in multilingual situations, 37Ð40 Alleles: prenatal diagnosis applications, 190Ð192 Alzheimer’s disease neurogenetics, 226 sampling and laboratory protocols, case carrier screening, Fragile X syndrome, studies, 292Ð294 266 Amyloid precursor protein (APP), conduct disorder neurogenetics, 234 Alzheimer’s disease epilepsy neurogenetics, 229Ð230 genetics, 221, 225Ð226 hemoglobinopathies, 262Ð263 Analytic decision-making, techniques neurogenetics of, 224Ð225 for, 51Ð52 null alleles, risk assessment, 348Ð349 Anxiety, psychological aspects of genetic α-fetoprotein (AFP): counseling and testing and, 57 prenatal screening and diagnosis, APC gene, familial adenomatous 164Ð165, 169Ð170 polyposis, 279 mechanisms of, 179 APOE ε-2 gene, Parkinson’s disease, ONTD screening and metabolism, 227Ð228 170Ð173 APOE ε-4 gene: test results, communication of, Alzheimer’s disease, 220Ð221, 226 366Ð368 susceptibility testing, 235Ð236 α-fetoprotein in the amniotic fluid (AFAFP): Archived specimens, testing with, 311 open neural tube defect diagnosis, Ashkenazi Jewish population, carrier 174Ð175 screening in, 263Ð265 prenatal screening and diagnosis, Aspartoacylase enzyme, Canavan disease, 171Ð173 264Ð265 Alpha-1-antitrypsin (AAT) deficiency, Association studies: susceptibility testing, 272 bipolar disorders, 233 Alpha-synuclein, Parkinson’s disease, schizophrenia, 232 227Ð228 Australian Law Reform Commission Alport syndrome, linkage analysis, risk (ALRC), genetic innovation and assessment, 350Ð352 protection of information, Alzheimer’s disease: 425Ð442 clinical presentation, 220Ð221 Autism: neurogenetics of, 225Ð226 clinical presentation, 221 Ambiguous test results, in adult-onset neurogenetics, 230Ð231 hereditary disorders testing, Automated gene sequencing, sampling and psychological impact of, 71Ð72 laboratory protocols, 295Ð296 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

Index 569

Automatic decision-making, techniques Bipolar disorders: for, 51Ð52 clinical presentation, 222 Autosomal dominant inheritance patterns: neurogenetics, 232Ð233 Alzheimer’s disease genetics, 221 Blood dot cards, newborn screening Parkinson’s disease, 227Ð228 systems, 253 Autosomal-dominant nocturnal frontal Bloom syndrome, carrier screening, 265 epilepsy, neurogenetics, 230 Blunter reaction, as coping mechanism, Autosomal recessive inheritance patterns: communication of test results carrier screening: and, 368Ð369 Ashkenazi Jewish population, 264Ð265 BRCA1 and 2 genes: deafness, 266Ð267 breast conservation and mutations in, Parkinson’s disease, 227Ð228 391 Availability of testing: founder mutations, breast cancer risk complexities of, 315Ð317 assessment, 349Ð350 impact of gene patents on, 335Ð339 hereditary breast cancer syndromes, susceptibility testing, 273Ð276 Bacteria growth inhibition assay, newborn mutation carriers, bilateral breast cancer screening, 250 risk, 393Ð394 Bayesian analysis, risk assessment using, mutations and genetic testing, 344Ð345 387Ð388 Behavior modification, genetic testing and Myriad Genetics issue and, 336Ð337 use of, 50Ð52 nonhereditary/hereditary cancer origins, Benefits of testing: 387 adult-onset hereditary disorders testing, patent issues for, 334Ð335 positive results (presence of risk assessment and mutations in, mutation), response to, 69Ð70 388Ð391 psychological aspects of genetic recontacting patients, duties regarding, counseling and testing and 417 potential for, 56Ð57 Breast cancer: susceptibility testing, 269Ð270 hereditary syndromes, susceptibility in children, 280Ð281 testing, 273Ð276 Benign rolandi epilepsy (BRE), case study, 282Ð283 neurogenetics, 229Ð230 risk assessment: β-globin genes, average population risk, 384Ð385 hemoglobinopathies, 262Ð263 bilateral risk, 392Ð394 β-human chorionic gonadotropin: family history and, 386Ð391 placental-derived markers, 178 founder mutations, 349Ð350 trisomy 18 diagnosis, 184 hormone replacement therapy Bilateral breast cancer risk, 392Ð394 and, 394Ð397 Binary interpretation pattern, of tests tamoxifen and prevention of, 391Ð392 results, 364Ð365 Biochemical genetics testing: Canada: disease diagnosis, 302Ð307 abortion laws in, 205Ð206 indications for, 296 genetic innovation in, 332Ð333 limitations of, 312 innovation in genetics and protection of prenatal diagnosis and screening, information in, 440Ð442 196 newborn screening policies, 246Ð247 sampling and laboratory protocols, Canavan disease, carrier screening, 295Ð296 264Ð265 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

570 Index

Cancer genetics: Causality, legal model for informed consent breast cancer: and, 130Ð131 invasive lobular carcinoma, 394 Cerebrospinal fluid (CSF), prenatal tamoxifen and prevention of, 391Ð392 screening and diagnosis, 169Ð170 health insurance discrimination, 158Ð160 CFTR gene: hereditary cancer syndromes, carrier testing, 376Ð378 susceptibility testing: cystic fibrosis carrier screening, breast/ovarian cancer, 273Ð276 259Ð260 colorectal cancer, 276Ð278 Children: familial adenomatous cytogenetic studies, 300Ð301 polyposis, 278Ð279 susceptibility testing in, 279Ð282 referrals for diagnostic testing: benefits of, 280Ð281 obligations concerning, 119 decision making principles, 282 primary care physicians’ ethical issues, 279Ð280 obligations, 120Ð122 potential harm, 281 risk assessment: risk-benefit tradeoff, 288Ð289 average risk, breast and ovarian Chip-based screening, sampling and cancer, 384Ð385 laboratory protocols, 296 bilateral breast cancer risk, 392Ð394 Choice, role of, in nondirected case studies, 382Ð383 counseling, 8Ð9 diagnosis vs. prognosis, 385Ð386 Chorionic villus sampling (CVS): family history, 386Ð391 cystic fibrosis carrier screening, 260Ð261 hormon replacement therapy, 394Ð397 prenatal diagnosis applications, 190Ð192 overview of research, 383 prenatal screening and diagnosis, 169 testing techniques, 62Ð63 CHRNA4 gene, epilepsy neurogenetics, sampling and laboratory protocols, 296 228Ð230 web resources, 443 CHRNB2 gene, epilepsy neurogenetics, 230 Candidate-gene study, neurogenetics, 225 Chromosomal anomalies: Carrier screening: developmental disorders, 297Ð302 Ashkenazi Jewish population, common adult-onset disorders, 301Ð302 diseases, 263Ð265 neonatal and pediatric basic principles, 254Ð255 cytogenetics, 300Ð301 case history, 255Ð256 prenatal diagnosis, 299Ð300 communication of results, 376Ð378 genetic testing indications for, 296 current status of, 258 interpretation of results, 325Ð326 cystic fibrosis, 258Ð260 CLCN2 gene, epilepsy neurogenetics, 229 case study, 359 Clinical diagnosis: deafness, 266Ð267 chronic adult disease, family history fragile X syndrome, 266 and, 98 goals of, 256 communication guidelines for, 44Ð46 hemoglobinopathies, 261Ð263 diagnostic criteria, 45 implementation, 258 molecular genetics and, 46 protocol development, 256Ð258 patient history, 44Ð45 risk assessment, 362 limitations of, 353 strategies for, 257Ð258 significance of test results inn, 312Ð313 target population, 256Ð257 Clinical implications: technical issues, 257 of family history, 88 Cascade carrier screening, strategies psychological aspects of genetic testing for, 258 and, 74Ð77 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

Index 571

Clinical management: laboratory reports to patient and duty to recontact, obligations physician, 321Ð322 concerning, 411Ð413 language skills used for, 366Ð368 genetic testing use in, 310Ð311 methods for, 30 impact of patents on, 333Ð335 miscommunication and patient implementation of test results, 313 dissatisfaction, 42Ð44 Clinical significance, of test results, 360 molecular genetics principles, 46 Clinical validity/utility, informed consent multilingualism, translation and and, 134Ð135 second-hand information Clinician obligations: issues, 37Ð40 genetic disease diagnosis, 108Ð109 family and friends as translators, 39Ð40 genetic test ordering and genetic consultation, 37Ð38 interpretation, 307Ð308 on-site translators, 37 COLAA gene family, Alport syndrome, risk post-consultation interview, 38Ð39 assessment, 351Ð352 need to know principle, 27Ð28 Colorectal cancer, hereditary syndromes, patient history, 44Ð45 susceptibility testing, 276Ð278 physician-patient relationship and, 24Ð25 Commercialization of human genes, ethical prenatal genetic care, miscommunication debate over, 330Ð331 and, 32Ð37 Common chronic adult disease, family cultural sensitivity, 35 history and genetic screening for: genetic consultation, 35Ð36 basic principles, 94 idioms and jargon, 33Ð34 individual risk assessment strategies, nondirectiveness, guidelines for, 34Ð35 94Ð95 opportunistic observation, 36Ð37 molecular testing, 97Ð98 professional disclosure of results, overview, 93Ð94 409Ð410 risk assessment guidelines, 95Ð97 duty to warn family members, 413Ð414 Communication in genetics testing and recontact in clinical settings, duties counseling: regarding, 411Ð413 client cultural and intellectual in research settings, 410Ð411 characteristics, 48 professional obligations in, 29 clinical diagnosis case study, 44Ð47 risk assessment, communication of, confidence and trust issues, 40Ð42 359Ð363 amniocentesis, women’s acceptance setting for, 366 of, 41Ð42 standards for, 28Ð29 amniocentesis, women’s refusal of, terminology, tone, and follow-up 40Ð41 guidelines, 30 decision-making considerations and of test results, practical steps approaches, 50Ð52 towards, 365Ð370 diagnostic criteria and, 45 timing of, 365 educational tools and facilitators, 48Ð50 Comparative genomic hybridization (CGH): effectiveness of, guidelines for, 24Ð27 evolution of, 321 ethical issues, 46 preimplantation genetic diagnosis, counseling guidelines, 46Ð49 190Ð192 fetal diagnosis, cultural factors in, Competency obligations, in diagnostic considerations for Latino genetics, 110Ð111 patients, 31Ð32 Complete blood count (CBC), informed consent and, 136Ð137 hemoglobinopathy place and time guidelines, 138Ð139 screening, 262Ð263 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

572 Index

Complexity in genetic testing: miscommunication, risk of, 42Ð44 availability issues, 315Ð317 sensitivity to, 35 legal and ethical issues, 151Ð152 in genetic counseling, 15Ð16 neurological disorders, 219Ð220 informed consent and, 140Ð141 ordering and interpretation protocols, innovation in gene research, protection of 314Ð319 information and, 438Ð442 Computer-based programs: psychological aspects of genetic testing as genetic counseling educational and, 73Ð74 tool, 49Ð50 Cutoff value: informed consent and use of, 142Ð143 newborn screening, 239Ð240 Concordance studies, neurogenetics, prenatal screening and diagnosis, 167Ð170 224Ð225 C282Y gene, hereditary hemochromatosis Conditional probability(ies), in risk susceptibility testing, 271Ð272 assessment, 344Ð345 communication of results, 375Ð376 Conduct disorder, neurogenetics, 233Ð234 CYP21A and B genes, null allele risk Confidence issues, in communication of assessment, 348Ð349 genetic test results, 40Ð42 Cystic fibrosis (CF): Confidentiality: carrier screening: genetic innovation and protection of Ashkenazi Jewish population, 265 information and, 430Ð431 case study, 255Ð256 in genetic testing, 398Ð400 communication of results, 376Ð377 prenatal/preimplantation genetic current status, 258Ð260 counseling, 217Ð218 newborn screening systems for, 254 Congenital hypothyroidism, newborn prenatal and preimplantation diagnosis, screening, 241Ð243 ethnicity issues, 194 legal aspects of, 246Ð247 risk assessment for, 346Ð347 Consent. See Informed consent Cytogenetic testing: Contingent sequential screening, Down autism, 230Ð231 syndrome, 183 chromosomal anomalies, development Continuing education training: disorders, 297Ð302 in diagnostic genetics, 109Ð110 chromosomal translocation case web resources, 443Ð444 study, 107Ð108 Continuum of distress, psychological aspects limitations of, 312 of genetic counseling and testing sampling and laboratory and, 76Ð77 protocols, 294Ð296 Cordocentesis, prenatal diagnosis applications, 190Ð192 Deafness: Cost issues. See also Benefits of testing carrier screening, 266Ð267 in laboratory selection, 319Ð320 prenatal/preimplantation genetic newborn screening, 241 diagnosis, 201Ð204 legal aspects of, 248Ð250 Decision-making: policy making and, 244Ð245 in breast cancer risk assessment, 391 Cultural factors: genetic testing and issue of, 50Ð52 client characteristics, 48 prenatal/preimplantation diagnosis, in clinical diagnosis, neurofibromatosis pressure for, 213Ð214 case study, 44Ð46 reproductive decision making: communication of test results and: genetic counseling and: Latino patients, considerations current trends in, 14 for, 31Ð32 historical perspective, 12Ð13 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

Index 573

prenatal genetic diagnosis: Dimeric inhibin-A (DIA): abortion laws, 204Ð206 Down syndrome diagnosis, 176Ð177 informed consent issues, 207Ð208 placental-derived markers, 178Ð179 susceptibility testing, in children and Direct-to-consumer susceptibility testing: adolescents, 282 ethics of, 290Ð291 Dehydroepiandrosterone sulfate (DHEAS), innovation in gene research, protection of unconjugated estriol information and, 435Ð442 (MSuE3), 179 Disability: Delegation issues, informed consent and, 140 prenatal/preimplantation genetic delF508 mutation, null allele risk diagnosis, 201Ð204 assessment, 348Ð349 ethical limits of, 203Ð204 Detection rates (DR): social aspects and access to resources, newborn screening, 239Ð240 213 prenatal screening and stigmatization of, 202Ð203 diagnosis, 164Ð165, 168Ð170 Disclosure of results. See also of test results, 359Ð360 Confidentiality Diagnostic genetics testing, 108Ð110 in adult-onset hereditary disorders testing, basic principles, 19Ð20 posttest counseling breast and ovarian cancer, prognosis vs. guidelines, 66Ð67 diagnosis, 385Ð386 informed consent and, 132Ð134 clinician obligations, 108Ð109 delegation issues, 140 competency and referral place and time guidelines, 138Ð139 obligations, 110Ð117 tone and manner of disclosure, prenatal diagnosis, 111Ð112 139Ð140 wrongful abortion, 116Ð117 legal and ethical aspects of, 400Ð402 wrongful birth issues, 113Ð114 prenatal diagnosis: wrongful life issues, 115Ð116 abnormal results, information Huntington disease, nonsymptomatic transfer, 212 patient, 372Ð375 information transfer, 209Ð211 nonsymptomatic patient case study, 358 professional disclosure duties, 409Ð410 vs. prenatal screening, 210Ð211 duty to warn family members, 413Ð414 primary care physicians, referral role recontact in clinical settings, duties of, 120Ð122 regarding, 411Ð413 professional expertise, standards for, in research settings, 410Ð411 109Ð110 Discrimination issues, web resources referral criteria, 117Ð120 for, 143 cancer genetics, 119 Disease diagnosis, genetic testing, 302Ð307 genetic test centers, 120 Distress. See Stress prenatal diagnosis, 118Ð119 communication of results as trigger for, susceptibility testing, prediction vs., 287 369Ð370 symptomatic patient case study, 358 DNA testing, carrier screening, 257 hereditary nonpolyposis colon Dose-dependent risk, Alzheimer’s disease, cancer, 371Ð372 226 tort actions, 123Ð127 Down syndrome: elements of tort claims, 124Ð125 amniocentesis sampling and laboratory wrongful adoption, 126Ð127 protocols, 293Ð294 wrongful birth, 123Ð124 integrated first- and second-trimester wrongful life, 125Ð126 screening, 182Ð183 web resources for, 110 neurogenetics of, 223 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

574 Index

Down syndrome (Continued ) Emotional response: prenatal screening and diagnosis, adult-onset hereditary disorders testing: 175Ð177 negative results (absence of mutation), chromosomal anomalies, 299Ð300 70Ð71 contingent sequential screening, 183 to positive results (presence of first-trimester screening, 182 mutation), 67Ð70 second-trimester screening, psychological assessment in pretest 181Ð182 phase, 65Ð66 triple or quad screen test, 196 prenatal/preimplantation diagnosis, Drug risks, duty to warn patients concerning, counseling for, 214 423 Environmental factors: Duchenne muscular dystrophy, neurological disorders, 219Ð220 neurogenetics of, 223 ethical issues, 235Ð236xc Duty of care, in genetic testing and Parkinson’s disease, 226Ð228 counseling: Enzyme assays, carrier screening, 257 conceptual guidelines for, 83Ð84 Enzyme-linked immunosorbent assay legal precedents for, 81Ð84 (ELISA), newborn screening, overview of, 79Ð80 250 prenatal diagnosis: Epigenetic mechanisms, neurological human vs. medical vision of, 214 disorders, 219Ð220 information transfer concerning, Epilepsies: 209Ð211 classification, 228 recontacting patients as continuing duty, clinical presentation, 222 421Ð422 genetics of, 228Ð230 standards of, 80Ð81 Equivocal results, interpretation of, 326 Duty to recontact, legal principle EST patenting controversy, 335 of, 416Ð424 Ethics of genetics testing and counseling. Duty to warn, disclosure of test results and See also Legal aspects of genetics legal principle of, 403Ð407 testing basic principles, 1, 11Ð12 Early-onset of disease, Alzheimer’s confidentiality issues, 398Ð400 disease, 221 disclosure of test results, 400Ð402 Echogenic bowel, trisomy 21 diagnosis, duty to warn principle, 403Ð407 186 professional disclosure duties, Echogenic intracardiac focus (EIF), trisomy 409Ð410 21 diagnosis, 187 duty to warn family members, Economic issues, genetic discrimination and, 413Ð414 146Ð148 recontact in clinical settings, duties Educational tools: regarding, 411Ð413 chronic adult disease, family history and, in research settings, 410Ð411 98Ð102 risks and harm, issues of, 407Ð408 for communication of test results, web resources on, 408 366Ð367 duty of care standard and, 79Ð84 for genetic counseling, 48Ð50 family history: informed consent and, 142Ð143 pedigree analysis, 89 web resources, 145 prenatal genetic diagnosis, 90Ð91 newborn screening systems, 253 genetic discrimination issues, 146Ð151 for New Genetics, 439Ð442 insurance coverage, 156Ð162 web resources, 356, 449 genomic patent policies, 328Ð329 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

Index 575

clinical genetic testing services, deafness, 267 335Ð336 hemoglobinopathies, 261Ð263 human gene patent debate, 329Ð331 family history taking: impact on research and clinical pedigree analysis and, 99Ð100 environment, 333Ð335 prenatal/neonatal testing and, 92 innovation and, 331Ð333 target populations in, 256Ð257 Myriad Genetics case study, 336Ð337 Ethnicity-based data: overview, 328Ð329 genetic test results and, 360Ð361 human gene patent debate, 329Ð331 prenatal and preimplantation diagnosis, innovation in gene research, protection of 195 information and: Evidence-based access, prenatal and actual vs. potential applications, preimplantation diagnosis, 433Ð434 193Ð194 current regulatory framework, 426Ð427 Evolutionary theory, innovation in gene human interest in, 429 research and, 438Ð442 policy action plan for, 434Ð442 public ambivalence concerning, Fabry disease, newborn screening systems 429Ð431 for, 254 rapid changes in, 431Ð432 Facilitators, for genetic counseling, neurogenetics testing, 234Ð236 48Ð50 neurological disorders, limited value of False-positive rate (FPR): genetic testing, 222 newborn screening, 239Ð240 predictive complexity and, 151Ð152 prenatal screening and diagnosis, prenatal genetic diagnosis: 164Ð165, 168Ð170 access issues, 166Ð167 Familial adenomatous polyposis (FAP), confidentiality, 217Ð218 susceptibility testing, 278Ð279 disability screening, 201Ð204 Familial dysautonomia, carrier screening, health care provider obligations, 265 197Ð198 Family dynamics: informed consent issues, 206Ð214 adult-onset hereditary disorders testing: public policy issues, 198 impact on, 72Ð73 stigmatization of disability, 202Ð203 negative results (absence of mutation), susceptibility testing, 200Ð201 71 wrongful adoption claims, 126Ð127 positive results (presence of mutation), psychological aspects of genetic testing, response to, 69Ð70 73Ð74 in pretest phase, 65Ð66 recontacting patients, issues involving, communication of test results and, 415Ð424 368Ð369 release of test results, research testing, interpretation of test results, 364Ð365 310Ð311 reactions to test results, 368Ð370 susceptibility testing, 287 Family history: adult-onset disorders, 282Ð285 adult-onset disorders, 92Ð93 in children, 280Ð281 Alzheimer’s disease genetics, 221 direct to consumer testing, 290Ð291 basic principles, 85Ð88 web resources, 444 cancer genetics, 386Ð391 Ethnic background: bilateral breast cancer risk, 393 carrier screening protocols, 256Ð257 BRCA mutations and, 387Ð391 Ashkenazi Jewish population, 263Ð265 breast conservation and, 391 cystic fibrosis, 259Ð260 decision-making guidelines, 391 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

576 Index

Family history (Continued ) F508C polymorphism, null allele risk hereditary/nonhereditary cancer origins, assessment, 348Ð349 387 “Fear appeal,” behavior modification hormone replacement therapy and, using, 50Ð52 395Ð3967 Fetal-derived markers, prenatal screening increased hereditary risk, indications of, and diagnosis: 386Ð387 Down syndrome, 179Ð181 carrier screening, cystic fibrosis, 259Ð260 trisomy 21 diagnosis, 185Ð188 clinical case study, 88 Fetal diagnostic testing, communication of clinical evaluation procedures, 98 results, cultural factors for Latino common chronic adult disease: patients, 31Ð32 basic principles, 94 FGFR3 gene, achondroplasia risk molecular testing, 97Ð98 assessment, 347Ð348 overview, 93Ð94 First-trimester screening: review procedures and guidelines, Down syndrome, 182 95Ð97 trisomy 18, 184 risk assessment strategies, 94Ð95 Fluorescence in situ hybridization (HISH), counseling and educational goals, preimplantation genetic 98Ð102 diagnosis, 190Ð192 disclosure of test results, legal and ethical FMR1 gene, Fragile X syndrome, carrier issues, 400Ð402 screening, 266 duty to warn principle, 403Ð407, Follow-up procedures: 413Ð414 communication of test results, 378Ð380 genetic susceptibility testing, 117 for genetic testing, 30 inaccurate/incomplete information, risk prenatal/preimplantation diagnosis, of, 89Ð90 counseling sessions, 215 management and prevention with, Forms requirements, for informed 104Ð106 consent, 137Ð138 maternal serum a-fetoprotein levels, 172 Founder mutations, breast cancer risk neurogenetics and study of, 223Ð225 assessment, 349Ð350 overview of, 85 Fragile X syndrome: Parkinson’s disease, 227Ð228 autism and, 221 pedigree analysis, 89 carrier screening, 266 counseling and education using, neurogenetics of, 223 99Ð100 Free choice principle, informed consent personal history, counseling and education and, 133 using, 100Ð101 Fully integrated screening, prenatal physical examination, counseling and diagnosis, 196 education using, 101Ð102 prenatal/neonatal testing, 90Ð92 GABRB3 genes, autism neurogenetics, practice guidelines, 194Ð195 231 reciprocal chromosome translocation case GABRG1 and 2 genes, epilepsy study, 107Ð108 neurogenetics, 228Ð230 sampling and laboratory Gaucher disease: protocols, 292Ð294 carrier screening, 265 test selection criteria, 102Ð103 newborn screening systems for, 254 web resources for, 444 G-banding studies, sampling and laboratory Fanconi anemia group C, carrier protocols, 292Ð294 screening, 265 Gender roles, in prenatal testing, 37Ð40 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

Index 577

Gene product assays, carrier screening, 257 Genetic exceptionalism, innovation in gene Generalized epilepsy with febrile seizures research, protection of information (GEFS+), neurogenetics, and, 434Ð442 229Ð238 Genetic reductionism, susceptibility testing Genetic clinics, web directory of, 356 and, 288 Genetic counseling: Genetic screening. See also Prenatal basic principles of, 11Ð12 screening and diagnosis communication of results, 380Ð382 defined, 18, 20Ð21 core concepts of, 2Ð3 Genetics model of informed consent, cultural considerations in, 15Ð16 131Ð134 current trends in, 13Ð14 Genetic susceptibility testing, adult-onset effective strategies for, 16Ð17 hereditary disorders, 116Ð117 ethics of, 1, 11Ð12 Genetic terminology, web resources, 444 family history and, 98Ð102 Genetic test centers, referral to, 120 goals of, 14Ð15 Genetic testing: historical perspective in, 12Ð13 applications of, 47 legal aspects of, 82Ð84 archived specimens, 311 limitations and applications, 3 categories of, 18Ð22 in mainstream medical care, 17Ð18 clinical management using, 310Ð311 nondirectiveness in, 6Ð9 clinical significance of, 312 historical perspective on, 12Ð13 complexities of interpretation and patient-health care professional ordering, 314Ð317 relationship, 1Ð2 consent to storage vs. consent to patient motivation and, 3 test, 311Ð312 physician-patient relationship and, 5Ð6 defined, 18Ð19 prenatal/preimplantation diagnosis, discrimination issues, 146Ð151 structure of sessions, 215Ð216 genetic counseling approach to, 11Ð12 process vs. outcome in, 7Ð8 indications for: recent developments in, 1Ð2 burden of disease, 296Ð297 stress as factor in, 3 chromosomal anomalies, 297Ð302 web resources for, 9Ð11, 356, 445 molecular and biochemical protocols, Genetic determinism: 302Ð307 innovation in gene research, protection of laboratory protocols: information and, 434Ð442 obligations, 309Ð310 susceptibility testing and, 288 selection criteria, 319Ð320 Genetic discrimination: limitations of, 312 consequences of scientific discovery and, methodologies and utility of, 318Ð319 146Ð148 neurological disorders, limited value current status, 153Ð154 of, 222 future issues, 154Ð156 new technologies, 320Ð321 increases in, 149Ð151 ordering and interpretation: insurance coverage: clinician obligations, 307Ð308 health insurance, 157Ð160 submission guidelines, 321 historical background, 156Ð157 patient selection criteria, 317Ð318 life insurance, 160Ð162 physician-patient relationship and: susceptibility testing and, 287Ð288 information transfer, 321Ð322 Genetic essentialism, innovation in gene trust as factor in, 3Ð5 research, protection of information posttest guidelines, 327Ð328 and, 434Ð442 process issues, 313Ð314 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

578 Index

Genetic testing (Continued ) prenatal/neonatal diagnosis, obligations results reporting and interpretation, concerning, 111Ð112 324Ð326 disclosure of test results, duty to warn sample requirements, 322Ð323 principle and obligations web resources for, 143Ð144, 445 of, 403Ð407 Genomic patent policies: duty of care standard for, 79Ð84 clinical genetic testing services, 335Ð336 family history taking by, 85Ð88 human gene patent debate, 329Ð331 prenatal/neonatal testing, 90Ð92 impact on research and clinical genetic counseling by, 17Ð18 environment, 333Ð335 Huntington disease diagnosis, innovation and, 331Ð333 communication of results, Myriad Genetics case study, 336Ð337 373Ð375 overview, 328Ð329 informed consent issues: Gestational age, maternal serum background for, 128Ð130 α-fetoprotein levels, 171Ð173 cultural and socioeconomic factors, GJB2 gene, deafness, carrier screening, 267 140Ð141 Glossary of terms, web resources, 10, 445 tone and manner of disclosure, Government policies, susceptibility testing, 139Ð140 291 interpretation of test results, 363Ð365 Graphic information, communication of test laboratory practices and, 314 results using, 367Ð368 nondirected genetic counseling and, 7Ð8 Harm, risk of: obligations of, 29 disclosure of test results and, 400Ð402 posttest guidelines, 327Ð328 duty of recontacting and, 418Ð424 prenatal screening and diagnosis: legal aspects concerning disclosure of test clinical and ethical guidelines, results and, 407Ð408 197Ð198 susceptibility testing, in children and nondirectiveness vs. routinization of, adolescents, 279Ð282 216Ð217 HBB gene, hemoglobinopathies, 262Ð263 obligations of, 166 H63D gene, hereditary hemochromatosis professional disclosure duties, 409Ð410 susceptibility testing, 271Ð272 duty to warn family members, Health care professionals. See also Primary 413Ð414 care physicians recontact in clinical settings, duties adult-onset disorders, genetic regarding, 411Ð413 susceptibility testing, 117 in research settings, 410Ð411 clinicians, genetic testing ordering and recontacting patients, legal, ethical, and interpretation practical issues concerning, obligations, 307Ð308 415Ð424 communcation of results by, 365Ð370 referral criteria, obligations concerning, additional resources for, 378 117Ð120 follow-up and aftercare, 378Ð379 liability issues, 120Ð122 personal reactions to results, 369 resources for, 378 diagnostic genetics and: risk assessment, reporting guidelines, accreditation standards, 109Ð110 342Ð343 competency and referral obligations, role in genetic counseling, 2Ð3 110Ð111 susceptibility testing obligations, nonsymptomatic patients, 373Ð375 285Ð286 obligations, 108Ð109 web resources, 448Ð449 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

Index 579

Health insurance, genetic-based Human chorionic gonadotropin (HCG): discrimination in, 157Ð160 Down syndrome diagnosis, 176Ð177 Health Insurance Portability and prenatal screening and diagnosis, Accountability Act (HIPAA), 164Ð165 genetic discrimination and, placental-derived markers, 178 153Ð154 Human gene patents: Heart disease risk assessment, lw-density actual vs. potential applications, lipoprotein (LDL) receptor, 433Ð434 347 ethical debate on, 329Ð331 Hemoglobinopathies, carrier screening for, Human Genetics Commission of Australia 261Ð263 (HGCA), proposal for, 427Ð429 Hemophilia, prenatal diagnosis, 347Ð348 Human Genome Project (HGP): Hereditary cancer syndromes, susceptibility adult-onset hereditary disorders, 61Ð62 testing: genetic discrimination issues and, breast/ovarian cancer, 273Ð276 146Ð151 signs of increased risk, 386Ð387 predictive complexity issues, 151Ð152 colorectal cancer, 276Ð278 Human immunodeficiency virus (HIV), familial adenomatous polyposis, health insurance discrimination, 278Ð279 159Ð160 Hereditary hemochromatosis (HHC): Human vision of medical care, prenatal/ increased risk testing, 358 preimplantation diagnosis commuincation of results, 375Ð376 and, 214 interpretation of results, 325Ð326 Huntington disease: susceptibility testing, 270Ð272 genetic testing for, 62Ð63 Hereditary mutations, sampling and nonsymptomatic patients, 358, laboratory protocols, 295Ð296 372Ð373 Hereditary nonpolyposis colon cancer psychological impact of results, (HNPCC): 373Ð375 diagnostic testing for, 358 insurance discrimination and, 161Ð162 communication of results, interpretation of results, 325Ð326 371Ð372 neurogenetics of, 223 susceptibility testing, 276Ð278 psychological aspects of genetic Heritability calculation: counseling and testing for, 54 bipolar disorders, 232Ð233 risk assessment for, 345Ð346 neurogenetics, 224Ð225 Hyperechoic bowel, trisomy 21 diagnosis, Hex A deficiency, Tay-Sachs 186 disease, 264Ð265 HFE gene: Idioms and jargon: hereditary hemochromatosis susceptibility communication of test results and, testing, 271Ð272 33Ð34 patent issues, 335Ð336 in consent forms, 137Ð138 High maternal serum chorionic gonadotropin Idiopathic generalized epilepsies (IGEs), (MShCG), Down syndrome neurogenetics, 228Ð230 diagnosis, 175Ð177 Inaccurate/incomplete information, in family Hormone replacement therapy (HRT), breast history, 89Ð90 cancer risk and: Inborn errors of metabolism, newborn family history, 394Ð395 screening, 239Ð243 Women’s Health Initiative (WHI) study, cost effectiveness of, 248Ð250 395Ð397 tandem mass spectrometry, 250Ð252 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

580 Index

Inclusion criteria, newborn screening Informed consent: systems, 253Ð254 communication issues, 136Ð137 Increased risk: cultural and socioeconomic differences, defined, 362 140Ð141 testing for, communication of results, current legal status of, 153Ð154 375Ð376 delegation of duties regarding, 140 Indications for testing: disclosure issues, 132Ð134 burden of disease standard, 296Ð297 discussion time and place issues, 138Ð139 changes in standards for, 313 doctrine of, 128Ð130 chromosomal anomalies, 297Ð302 educational tools for, 142Ð143 molecular and biochemical forms for, 137Ð138 protocols, 302Ð307 future issues, 154Ð156 Information-only services, duty of genetic discrimination consequences: recontacting and use of, 423Ð424 anticipation of, 146Ð148 Information transfer: impact of Human Genome Project on, communication in genetic testing and 149Ð151 counseling and, 24Ð25 insurance coverage, 156Ð162 communication of test results, genetics model of, 131Ð134 355Ð356, 366Ð368 health care professionals’ tone and current regulatory framework, 426Ð427 manner, 139Ð140 decision-making and role of, 50Ð52 legal models of, 130Ð131 disclosure of test results, duty to warn linguistic differences, 141Ð142 principle, 403Ð407 newborn screening, 246Ð247 genetic innovation and: overview of, 128 actual vs. potential applications, predictive complexity of genetic 433Ð434 conditions, 151Ð152 human interest in, 429 preimplantation genetic diagnosis, 216 policy action plan for, 434Ð442 prenatal genetic diagnosis, 206Ð208 public ambivalence concerning, abnormal results, options available 429Ð431 with, 212 rapid changes in, 431Ð432 emotional and psychosocial counseling, medical genetics, key recommendations, 214 427Ð429 genetic conditions information, prenatal diagnosis, informed consent 211Ð212 procedures, 209Ð211 information about procedures, genetic conditions information, 210Ð212 211Ð212 pre- and posttest counseling, 214Ð216 protection of genetic innovation and: social pressures for decision, 213Ð214 actual vs. potential applications, stigma of disability and, 213 433Ð434 for specimen storage vs. testing, 311Ð312 current regulatory framework, 426Ð427 test validity and utility, 134Ð135 human interest in, 429 web resources for, 143Ð145 objectives, 425Ð426 Innovation in gene research: policy action plan for, 434Ð442 patent issues and, 331Ð333 public ambivalence concerning, protection of information and: 429Ð431 actual vs. potential applications, rapid changes in, 431Ð432 433Ð434 Informed choice principle, 133 current regulatory framework, 426Ð427 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

Index 581

human interest in, 429 Laboratories: policy action plan for, 434Ð442 accreditation, quality assurance, and public ambivalence concerning, quality management protocols, 429Ð431 309Ð310 rapid changes in, 431Ð432 genetic testing protocols, 294Ð296 technical advances, 320Ð321 clinician obligations regarding, Insulin-dependent diabetes mellitus (IDDM), 307Ð308 maternal serum α-fetoprotein legal obligations of, 309Ð310 levels, 172 interpretation of test results, duties Insurance issues: regarding, 363Ð365 genetic discrimination and, 146Ð151 limitations of testing, 352Ð353 health insurance, 157Ð160 ordering and interpretation complexities, historical background, 156Ð157 314Ð319, 321 life insurance, 160Ð162 performance obligations in genetic web resources for, 143, 446 testing, 309Ð310 Integrated biochemistry-only screening, process issues in, 313Ð314 trisomy 18, 184 quality systems, 327 Integrated first- and second-trimester reporting responsibilities of, 309 screening, Down syndrome requisitions requirements, 313 diagnosis, 182Ð183 sample requirements of, 322Ð323 Intellectual characteristics, of genetic testing selection criteria for, 319Ð320 client, 48 web resources for, 144, 446 Interleukin-1 β gene, epilepsy Language issues in genetic testing, 336Ð338. neurogenetics, 228Ð230 See also Idioms and jargon; International laboratory practices, 314 Multilingualism Interpretation complexity in test results, genetic testing and role of, 37Ð40 324Ð326 case history of, 37Ð38 Invasive lobular carcinoma, risk assessment, family and friends as translators, 394 39Ð40 In vitro fertilization (IVF), preimplantation on-site translators, 37 genetic diagnosis, informed post-consultation interview, 38Ð39 consent and, 216 informed consent issues and, 141Ð142 web resources for, 144, 446 Jargon: Late-onset conditions: communication of test results and use Alzheimer’s disease genetics, 221 of, 33Ð34 prenatal and preimplantation diagnosis, in consent forms, 137Ð138 200Ð201 Joint probability, in risk assessment, Lateral ptemporal-lobe epilepsy, 344Ð345 neurogenetics, 229Ð230 Latino patients, fetal diagnosis Karyotyping techniques: communication, cultural chromosome anomalies, adult-onset factors, 31Ð32, 36Ð37 disorders, 302 Legal aspects of genetics testing. See also sampling and laboratory protocols, Ethics of genetics testing and 292Ð296 counseling; Liability; Tort actions KCNJ10 gene, epilepsy neurogenetics, 229 abortion laws and, 204Ð206 KCNQ2 and 3 gene, epilepsy neurogenetics, adult-onset disorders, genetic 229Ð230 susceptibility testing, 117 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

582 Index

Legal aspects of genetics testing (Continued ) laboratory requisitions requirements, 313 clinician clinicians ordering and newborn screening, 240, 246Ð247 interpretation obligations, physician-patient relationship and, 81Ð84 307Ð308 physician standard of care, 80Ð81 confidentiality issues, 398Ð400 predictive complexity and, 151Ð152 diagnostic genetics: prenatal screening and diagnosis, competency and referral, professional 189Ð196 obligations regarding, 110Ð111 abortion laws, 204Ð206 prenatal/neonatal diagnosis, 111Ð112 access problems, 193Ð194 wrongful abortion claims, 116Ð117 confidentiality, 217Ð218 wrongful adoption claims, 126Ð127 disability screening, 201Ð204 wrongful birth claims, 112Ð114 ethnicity-based practice guidelines, wrongful life claims, 112, 115Ð116 194 disclosure of test results, 400Ð402 family history and, 194Ð195 duty to warn principle, 403Ð407 health care provider obligations, professional disclosure duties, 197Ð198 409Ð410 maternal age, 195 duty to warn family members, medical factors, 196 413Ð414 pregnancy history, 195 recontact in clinical settings, duties prenatal/neonatal diagnosis, 217Ð218 regarding, 411Ð413 public policy, 198 in research settings, 410Ð411 sex selection, 198Ð200 risks and harm, issues of, 407Ð408 standards of usefulness, 139Ð194 web resources on, 408 ultrasound examination and duty of care standard, 79Ð84 biochemical markers, 196 duty to warn obligations, 403Ð404 recontacting patients, issues involving, family history taking, 86Ð87 415Ð424 inaccurate/incomplete information, web resources, 446 89Ð90 Legislation on genetics: prenatal/neonatal testing, 91Ð92 newborn screening programs, 246Ð24 genetic discrimination issues, 146Ð151 web resources for, 143, 446 current status, 153Ð154 LGH gene, epilepsy neurogenetics, 230 genetic innovation and protection of Liability. See also Tort actions information, 426Ð427 adult-onset disorders, genetic genomic patent policies: susceptibility testing, 117 clinical genetic testing services, diagnostic genetics: 335Ð336 competency and referral, professional human gene patent debate, 329Ð331 obligations regarding, 110Ð111 impact on research and clinical wrongful birth claims, prenatal/neonatal environment, 333Ð335 diagnostic testing, 112Ð114 innovation and, 331Ð333 disclosure of test results, duty to warn Myriad Genetics case study, 336Ð337 principle, 403Ð407 overview, 328Ð329 family history taking and issue of, 87Ð88 informed consent: in genetic counseling, 82Ð84 background for, 128Ð130 of primary care physicians, referral models for, 130Ð131 obligations, 121Ð122 web resources for, 144 wrongful abortion claims, 116 laboratory performance wrongful life claims, prenatal/neonatal obligations, 309Ð310 diagnosis, 112, 115Ð116 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

Index 583

Life insurance, genetic discrimination Media coverage, of genetic discrimination and, 160Ð162 issues, 149Ð151 Linkage analysis: Medical devices, risks of, duty to warn disease diagnosis, 305 patients concerning, 423 neurogenetics, 224Ð225 Medical information bureau (MIB), health risk assessment with, 350Ð352 insurance discrimination, 160 sample requirements, 323 Medical vision of care: schizophrenia neurogenetics, 232 laboratory requisitions, 313 Low-density lipoprotein (LDL) receptor, prenatal/preimplantation diagnosis heart disease risk assessment, 347 and, 214 Lysosomal storage disease: Mendelian inheritance, autism, 221 biochemical testing for, 306Ð307 Mental illness, wrongful adoption claims newborn screening systems for, 254 and, 126Ð127 3-Methylcrotonyl-CoA carboxylase Mainstream medicine, role of genetic deficiency, newborn screening counseling in, 17Ð18 for, 249Ð250 Malpractice law: Microdeletions/microduplications, diagnostic genetics and, prenatal/neonatal cytogenetic studies, 301 diagnosis, 112 Microtubule-associated protein τ (MAPT) disclosure of test results, duty to warn gene, Parkinson’s disease, principle, 403Ð407 227Ð228 Management and prevention of chronic Misinterpretation of test results: disease, family history as tool genetic counseling and issues of, 42Ð44 for, 104Ð105 by physicians, 27 MAOA gene, conduct disorder, 233Ð235 prenatal genetic care and, 32Ð37 Maternal age: psychological aspects of genetic genetic counseling and, family history counseling and testing and, and, 88 54Ð55 prenatal and preimplantation diagnosis, MLH1 and 2 genes, hereditary nonpolyposis 195 colon cancer, susceptibility second-trimester Down syndrome testing, 276Ð278 screening, 181Ð182 symptomatic patient case study, 371Ð372 Maternal serum α-fetoprotein (MSAFP): Molecular genetics testing: Down syndrome diagnosis, 175Ð177 chronic adult disease, family history and, prenatal screening and diagnosis, 97Ð98 171Ð173 clinical diagnosis, neurofibromatosis case second-trimester Down syndrome study, 46 screening, 181Ð182 disease diagnosis, 302Ð307 trisomy 18, 183Ð184 indications for, 296 Maternal serum screening, prenatal limitations of, 312 diagnosis, 196 risk assessment, 340Ð341 Maternal weight, maternal serum sampling and laboratory α-fetoprotein levels, 171Ð173 protocols, 295Ð296 MCAD deficiency, newborn screening schizophrenia, 231Ð232 for, 240, 243 Monitoring, as coping mechanism, cost effectiveness of, 249Ð250 communication of test results Mean Corpuscular Volume (MCV), and, 368Ð369 hemoglobinopathy screening, MPTP neurotoxin, Parkinson’s disease, 262Ð263 226Ð228 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

584 Index

MSH2 gene, hereditary nonpolyposis colon Neurofibromatosis case study, clinical cancer, susceptibility testing, diagnosis: 276Ð278 diagnostic criteria, 45 MSH6 gene, hereditary nonpolyposis colon molecular genetics, 46 cancer, susceptibility testing, patient history, 44Ð45 276Ð278 Neurogenetics: Mucolipidosis, carrier screening, 265 overview of, 223 Multilingualism: research methodology, 223Ð225 genetic testing and role of, 37Ð40 Neuroligin genes, autism neurogenetics, 231 case history of, 37Ð38 Neurological disorders: family and friends as translators, 39Ð40 Alzheimer’s disease: on-site translators, 37 clinical presentation, 220Ð221 post-consultation interview, 38Ð39 neurogenetics, 225Ð226 informed consent issues and, 141Ð142 autism: Multiple gene testing, 289Ð290 classification, 221 Multiple gestation pregnancies, maternal genetics of, 230Ð231 serum α-fetoprotein levels, 172 bipolar disorders: Multiple significance testing, breast cancer classification, 222 risk and hormone replacement genetics of, 232Ð233 therapy, 395Ð397 clinical presentation, 220 Mutation nomenclature, risk assessment conduct disorder, genetics of, 233Ð234 and, 353Ð354 epilepsies: MYH gene, familial adenomatous classification, 222 polyposis, 279 genetics of, 228Ð230 Myriad Genetics, patents owned genetic testing, ethical and legal issues, by, 336Ð337 234Ð236 limitations of testing, 222 Nasal bone abnormalities, trisomy 21 neurogenetics research, 223Ð225 diagnosis, 188 Parkinson’s disease: Need to know principle, communication in clinical presentation, 221 genetic testing and counseling neurogenetics, 226Ð228 and, 27Ð28 research overview, 219Ð220 Negative predictive value, newborn schizophrenia: screening tests, 247Ð248 classification, 222 Negative test results: genetics of, 231Ð232 accuracy of, for risk assessment, 343Ð344 Newborn diagnosis and screening. See also in adult-onset hereditary disorders testing Children (absence of mutation), applications, 238Ð239 psychological impact of, 70Ð71 basic principles, 241Ð242 complexity in interpretation, 324Ð326 competency and referral, professional Negligence claims: obligations regarding, 111Ð112 family history taking and issue of, 87Ð88 core concepts, 239Ð241 prenatal/neonatal diagnostic testing: current status, 252 tort elements, 124Ð125 cytogenetics, 300Ð301 wrongful birth claims, 112Ð114 educational tools, 253 Neural tube defects, prenatal screening and family history and, 90Ð92 diagnosis, 169Ð170 future issues, 253Ð254 Neuregulin 1 gene, schizophrenia, 232 historical background, 242 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

Index 585

inclusion criteria, 253Ð254 Null alleles: legal aspects of, 240, 246Ð247 limitations of, 352 MCAD deficiency, 243 risk assessment, 348Ð349 new diseases, 254 PKU and congenital hypothyroidism, Odds and percentages, common conversions 242Ð243 of, 366Ð367 policies and principles, 244Ð245 Odds of being affected given a negattive positive results, confirmation of, 244 result (ONPR), prenatal screening referral criteria, 118Ð119 and diagnosis, 168Ð170 research overview, 238 Odds of being affected given a positive result selection criteria, 241, 247Ð252 (OAPR): cost-effectiveness, 248Ð250 newborn screening, 239Ð240 test characteristics, 247Ð248 prenatal screening and diagnosis, systems approach to, 245 164Ð165, 168Ð170 technologies for, 250Ð252 Open enrollment convention, health web resources for, 447Ð448 insurance discrimination, wrongful abortion claims, 116Ð117 159Ð160 wrongful birth claims, 112Ð114 Open neural tube defects (ONTD): wrongful life claims, 112, 115Ð116 AFP metabolism and screening for, New diseases, newborn screening systems 170Ð173 for, 254 diagnostic tests for, 173Ð175 NF-M gene, Parkinson’s disease, 227Ð228 prenatal screening and diagnosis, Niemann-Pick disease, carrier screening, 169Ð170 265 Open spina bifida, prenatal screening and Nondirectiveness in genetics testing: diagnosis, 169Ð170 communication of results and, Opportunistic observation, in prenatal miscommunications with, 34Ð35 testing, 36Ð37 in decision-making, 51Ð52 Ovarian cancer: disclosure of results, informed consent BRCA1 and 2 mutations, risk assessment and, 132Ð134 and, 388Ð391 in genetic counseling, 6Ð9 hereditary syndromes, susceptibility cultural factors, 15Ð16 testing, 273Ð276 historical perspective, 12Ð13 risk assessment, average population prenatal/preimplantation genetic risk, 384Ð385 counseling, 216Ð217 Nonhereditary cancer, origins of, 387 Pamphlets, informed consent and use of, Nonmaleficence principle, duty of 142Ð143 recontacting and, 418Ð424 PARK2 gene, Parkinson’s disease, 221 Nonsymptomatic patients, diagnostic Parkin gene, Parkinson’s disease, testing, 358, 372Ð373 227Ð228 Nuchal thickening, trisomy 21 Parkinson’s disease: diagnosis, 185Ð186 clinical presentation, 221 Nuchal translucency (NT): neurogenetics of, 226Ð228 Down syndrome diagnosis, 176Ð177 Patents. See Genomic patent policies mechanisms of, 179Ð181 Patient autonomy: trisomy 18 diagnosis, 184 duty of recontacting and, 418Ð424 Nuclear receptor-related-1 gene (NR4A2), genetic counseling and, 3 Parkinson’s disease, 227Ð228 nondirected counseling and, 6Ð9 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

586 Index

Patient comprehension: cost effectiveness of, 248Ð250 communication in genetic testing and legal aspects of, 246Ð247 counseling and, 24Ð28 Physical examination, genetic counseling obligations concerning, 29 and education using, 101Ð102 risk communication and, 359Ð363 Physician-patient relationship. See also of test results, 363Ð365 Health care professionals; Primary Patient education, web resources, 356, 449 care physicians Patient expectations, genetic counseling communication in genetic testing and and, 16Ð17 counseling: Patient history: client cultural and intellectual adult-onset hereditary disorders testing, characteristics, 48 assessment in pretest phase, clinical diagnosis case study, 44Ð47 64Ð66 confidence and trust issues, 40Ð42 communication of results, psychological amniocentesis, women’s acceptance aspects, 373Ð374 of, 41Ð42 cystic fibrosis carrier testing, 377Ð378 amniocentesis, women’s refusal family history derived from, 85Ð87 of, 40Ð41 genetic counseling and education using, decision-making considerations and 100Ð101 approaches, 50Ð52 genetic diagnosis, nonsymptomatic diagnostic criteria and, 45 patients, 373Ð375 educational tools and facilitators, increased risk testing, 375Ð376 48Ð50 Patient motivation: effectiveness of, guidelines for, 24Ð27 adult-onset hereditary disorders testing, ethical issues, 46 pretest phase of, 63Ð66 counseling guidelines, 46Ð49 genetic counseling and role of, 3 fetal diagnosis, cultural factors in, Patient obligations, duty of recontacting and considerations for Latino role of, 419Ð420 patients, 31Ð32 Patient registry, referrals for diagnostic informed consent and, 136Ð137 testing and, 121Ð122 methods for, 30 Patient selection criteria, for genetic miscommunication and patient testing, 317Ð319 dissatisfaction, 42Ð44 Pedigree analysis: molecular genetics principles, 46 family history and, 89 multilingualism, translation and genetic counseling and education second-hand information issues, using, 99Ð100 37Ð40 as genetic counseling educational tool, family and friends as translators, 49Ð50 39Ð40 risk assessment, 344Ð345 genetic consultation, 37Ð38 Perceived risk: on-site translators, 37 adult-onset hereditary disorders testing, in post-consultation interview, 38Ð39 pretest phase, 64Ð66 need to know principle, 27Ð28 psychological aspects of genetic patient history, 44Ð45 counseling and testing and, 57 physician-patient relationship and, Perception, psychological aspects of genetic 24Ð25 counseling and testing and, factors prenatal genetic care, affecting, 59Ð60 miscommunication and, 32Ð37 Phenylketonuria (PKU), newborn cultural sensitivity, 35 screening, 241Ð243 genetic consultation, 35Ð36 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

Index 587

idioms and jargon, 33Ð34 in prenatal diagnosis, informed consent nondirectiveness, guidelines for, options, 212 34Ð35 Posterior probability, in risk opportunistic observation, 36Ð37 assessment, 344Ð345 professional obligations in, 29 Posttest counseling: standards for, 28Ð29 communication of test results, managing terminology, tone, and follow-up aftermath of, 369Ð370 guidelines, 30 complexities in, 327Ð328 test results, steps for communication prenatal/preimplantation diagnosis, of, 365Ð370 214Ð215 duty of care principles, 81Ð84 Prader Willi-Angelman syndrome, 221 evolution of, 3Ð5 Preconception carrier screening, strategies genetic counseling and, 5Ð6 for, 258 goal identification, 14Ð15 Predictive complexity: nondirectiveness in, 6Ð9 and genetic conditions, 151Ð152 genetic testing and, trust as factor in, 3Ð5 susceptibility testing, risk prediction vs. laboratory reports communicated with, diagnosis, 287 321Ð322 Predictive genetic testing, defined, 21 recontacting patients: Pregnancy-associated plasma protein A in clinical settings duties regarding, (PAPP-A): 411Ð413 Down syndrome diagnosis, 176Ð177 ethical, legal, and practical concerns, prenatal screening and diagnosis, 415Ð424 164Ð165 PINK1 gene, Parkinson’s disease, 227Ð228 mechanisms of, 179 Placental-derived markers, prenatal trisomy 18, 184 screening and diagnosis, 178Ð179 Pregnancy history, prenatal and Policy issues: preimplantation diagnosis, 195 genetic discrimination an, 154Ð156 Preimplantation genetic diagnosis (PGD): innovation in gene research, protection of evidence-based access, 193Ð194 information and, 434Ð442 informed consent and, 216 newborn screening, 244Ð245 legal and ethical issues, 189Ð196 prenatal genetic diagnosis, 166Ð167 abortion laws, 204Ð206 ethics and legal aspects, 198 access problems, 193Ð194 web resources for, 145, 446, 450 confidentiality, 217Ð218 Polymerase chain reaction (PCR): ethnicity-based practice limitations of, 352 guidelines, 194 preimplantation genetic family history and, 194Ð195 diagnosis, 190Ð192 health care provider obligations, Population data, genetic test results and, 197Ð198 360Ð361 maternal age, 195 Positive predictive value, newborn screening medical factors, 196 tests, 247Ð248 pregnancy history, 195 Positive test results: public policy, 198 accuracy of, for risk assessment, 343Ð344 sex selection, 198Ð200 in adult-onset hereditary disorders testing standards of usefulness, 139Ð194 (presence of mutation), ultrasound examination and psychological impact of, 69Ð70 biochemical markers, 196 complexity in interpretation, 324Ð326 overview of, 190 newborn screening, 244 prenatal screening, 166 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

588 Index

Preimplantation genetic diagnosis (PGD) legal and ethical issues, 189Ð196 (Continued ) abortion laws, 204Ð206 sex selection, 198Ð200 access problems, 193Ð194 susceptibility testing, 200Ð201 confidentiality, 217Ð218 techniques for, 190, 192Ð193 ethnicity-based practice guidelines, Prenatal diagnosis (PND). See also Children; 194 Newborn diagnosis and screening family history and, 194Ð195 access issues, 166 health care provider obligations, achondroplasia risk assessment, 348 197Ð198 basic concepts, 167Ð170 maternal age, 195 basic principles, 20 medical factors, 196 case study, 167Ð170 pregnancy history, 195 communication of results: public policy, 198 cultural factors for Latino sex selection, 198Ð200 patients, 31Ð32 standards of usefulness, 139Ð194 idioms and jargon used in, 33Ð34 ultrasound examination and miscommunication of, 32Ð37, 42Ð44 biochemical markers, 196 competency and referral, professional limitations of, 210Ð211 obligations regarding, 111Ð112 neural tube defects, 169Ð170 congenital anomalies, 299Ð300 overview, 163 core concepts, 164 placental-derived markers, 178Ð179 disability-based selection, 201Ð204 preimplantation diagnosis, 166 Down syndrome, 175Ð177 recent techniques, 164Ð165 contingent sequential screening, 183 reciprocal chromosome translocation case first-trimester screening, 182 study, 107Ð108 integrated first- and second-trimester referral criteria, 118Ð119 screening, 182Ð183 routinization of, 216Ð217 second-trimester screening, 181Ð182 screening vs. diagnosis issues, 210Ð211 family history and, 90Ð92 societal issues and public policies, fetal-derived markers, 179Ð181 166Ð167 goals of, 163Ð164 summary of developments, 188Ð189 health care provider obligations, 166 susceptibility testing and late-onset informed consent and genetic conditions, 200Ð201 counseling, 206Ð214 trisomy 18, 183Ð188 abnormal result, available options for, first-trimester screening, 184 212 integrated biochemistry-only barriers to, 208Ð209 screening, 184 characteristics of conditions, 211Ð212 second-trimester screening, 183Ð184 emotional and psychosocial trisomy 21: counseling, 214 echogenic intracardiac focus, 187 follow-up counseling, 215 hyperechoic bowel, 186 nondirectiveness issues, 216Ð217 increased nuchal fold, 185Ð186 pre- and posttest counseling, 214Ð216 nasal bone abnormalities, 188 procedure information, 209Ð211 renal pyelectasis, 187 social aspects of disability, 213 second-trimester ultrasound markers, social pressures on decision-making, 185Ð188 213Ð214 shortened limbs, 186 structuring of counseling session, web resources for, 447Ð448 215Ð216 wrongful abortion claims, 116 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

Index 589

wrongful birth claims, 112Ð114 positive test result for mutation, 67Ð70 wrongful life claims, 112, 115Ð116 pretest counseling phase, 63Ð66 Presenilin 1 and 2 genes, Alzheimer’s societal and ethical issues, 73Ð74 disease genetics, 221, 225Ð226 testing process, 62Ð63 Presymptomatic testing, defined, 21 anxiety and perceived risk, patient’s Pre-test counseling: pretest status, 57 prenatal/preimplantation diagnosis, basic principles, 53Ð54 214Ð215 chromosomal translocation case study, test results, impact on, 357 54Ð55 Pretest phase, genetics diagnosis: communication of test results: adult-onset hereditary disorders testing, case studies in, 371Ð375 psychological aspects, 63Ð66 clinical limitations of, 373 impact on successful test results of, 357 followup and aftercare Prevention techniques for chronic disease: procedures, 379Ð380 disclosure of test results and, 400Ð402 health care professionals’ reaction, family history as tool for, 104Ð105 369 Primary care physicians. See also Health impact of results, 369Ð370 care professionals; language issues, 366Ð368 Physician-patient relationship nonsymptomatic patient, diagnostic referral obligations of, 120Ð122 testing in, 372Ð373 Primum non nocere principle, genetic testing patient/family reactions, 368Ð369 and, 1, 4 patient history and Prior probability, in risk assessment, characteristics, 373Ð375 344Ð345 setting for, 366 Privacy issues, genetic innovation and symptomatic patient, diagnostic testing protection of information and, in, 371Ð372 430Ð431 timing, 365 Private investment, gene patent Huntington disease case study, 54 innovation, 331Ð333 increased risk testing, impact of results, Professional organizations, web resources, 375Ð376 448Ð449 informed consent, web resources for, 144 Prognosis, breast and ovarian cancer, perception factors, 59Ð60 diagnosis vs., 385Ð386 potential for benefit, 56Ð57 Protease inhibitor gene, alpha-1-antitrypsin potential for harm, 56 (AAT) deficiency, susceptibility prenatal/preimplantation diagnosis, testing, 272 emotional and psychosocial Proteomics, genetic innovation and counseling, 214 protection of information and, 432 research background, 53 Psychological aspects of genetic counseling standards and interpretation, 60Ð61 and testing: stress as factor in, 57Ð58 adult-onset hereditary disorders, 61Ð78 stress management, 58Ð59 ambiguous test results, guidelines for, web resources for, 449 71Ð72 Public health: clinical implications of, 74Ð77 genetic discrimination issues in, 154Ð156 disclosure of result, posttest phase, newborn screening policies, 244Ð245 66Ð67 susceptibility testing, 291 family reactions to, 72Ð73 web resources for, 145, 449Ð450 negative test result, absence of Purine metabolism disorders, biochemical mutation, 70Ð71 testing, 306Ð307 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

590 Index

Quad screen protocol, prenatal screening and prenatal genetic diagnosis: diagnosis, 196 abortion laws, 204Ð206 Quality assurance/quality management informed consent issues, 207Ð208 protocols: Research environment in genetics: laboratory accreditation, 309Ð310 communication of results in, 410Ð411 systems in laboratories for, 327 impact of patents in, 333Ð335 Quality of life benefits, adult-onset web resources, 445 hereditary disorders testing, Results of tests. See Test results positive results (presence of Retinoblastoma, prenatal testing for, mutation), response to, 70 347Ð348 “Right not to know” principle, prenatal Racial origin, maternal serum α-fetoprotein diagnosis, informed consent levels, 171Ð173 procedures, 211Ð212 Reciprocal chromosome translocation: Risk assessment: family history of, 88 adult-onset hereditary disorders, benefits prenatal diagnosis, spina bifida case of, 61Ð62 study, 107 breast cancer: psychological aspects of genetic average population risk, 384Ð385 counseling and testing for, bilateral risk, 392Ð394 54Ð55 family history and, 386Ð391 Recontacting patients: founder mutations, 349Ð350 in clinical settings duties regarding, hormone replacement therapy 411Ð413 and, 394Ð397 ethical, legal, and practical concerns, calculation of, techniques for, 344Ð345 415Ð424 common chronic adult disease: methods for, 420Ð421 family history, 95Ð97 Recurrence risk, defined, 362 for individuals, 94Ð95 Referral, in diagnostic genetics: communication of: criteria for, 117Ð120 language skills for, 366Ð368 primary care physicians, obligations legal aspects concerning, 407Ð408 of, 120Ð122 resources for, 356 professional obligations regarding, setting for, 366 110Ð111 timing of, 365 Regulatory framework, genetic innovation cystic fibrosis, 346Ð347 and protection of information, definition of, 361Ð362 426Ð427 disclosure of test results, duty to warn Relative risk, defined, 361 principle, 403Ð407 Renal pyelectasis, trisomy 21 diagnosis, FGFR3, achondroplasia, and 187 thanatophoric dwarfism, 347Ð348 Repeat testing, indications for, 313Ð314 health care professionals’ duties Reporting requirements for test results: regarding, 342Ð343 interpretation complexity, 324Ð326 Huntington disease, 345Ð346 written results, 363 laboratory testing, 340 of laboratories, 309 limitations of, 352Ð353 risk assessment guidelines, 342Ð343 LDL receptor heart disease risk, 347 Reproductive decision making: limitations of testing, 341Ð342 genetic counseling and: linkage analysis and Alport syndrome, current trends in, 14 350Ð352 historical perspective, 12Ð13 molecular testing, 340Ð341 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

Index 591

mutation nomenclature, 353Ð354 Single-gene disorders, newborn screening negative test results, accuracy of, 343 systems for, 254 null alleles, 348Ð349 Smith-Lemli-Opitz syndrome, amniocentesis overview, 340 sampling and laboratory patient understanding of, 16Ð17 protocols, 294 positive test results, accuracy of, Societal issues: 343Ð344 prenatal genetic diagnosis, 166Ð167 predictive accuracy of results, 343 prenatal/preimplantation genetic susceptibility testing: diagnosis: benefits vs., 269Ð270 pressures for decision making, identification and understanding of, 213Ð214 286 stigmatization of disability, 213 prediction vs. diagnosis, 287 psychological aspects of genetic testing, web resources for, 145, 450 73Ð74 Roe v. Wade, 204Ð205 Socioeconomic issues, informed consent and, 140Ð141 Sample collection protocols: Somatic mutations, sampling and laboratory basic requirements, 322Ð323 protocols, 295Ð296 case studies, 292Ð294 Specificity: laboratory requirements, 322Ð323 newborn screening tests, 247Ð248 overview of, 292 of test results, 359 Schizophrenia: Specimen requirements, for genetic clinical presentation, 222 testing, 322Ð323 neurogenetics, 231Ð232 limitations of testing with, 352Ð353 Screen negative risk, prenatal screening and Standards: diagnosis, 168Ð170 in diagnostic genetics, 109Ð110 Screen positive risk, prenatal screening and for genetic counseling, 28Ð29 diagnosis, 167Ð170 for informed consent, legal models for, Second-trimester screening: 130Ð131 Down syndrome, 181Ð182 obsolescence in, 313Ð314 trisomy 18, 183Ð184 of patient care, 80Ð81 trisomy 21, 185Ð188 tort claims and, 124Ð125 “Selective mentality” of prenatal testing, psychological aspects of genetic stigmatization of disability counseling and testing and, 60Ð61 and, 202Ð203 Stigma of disability, prenatal/ Sensitivity: preimplantation genetic diagnosis: newborn screening tests, 247Ð248 ethical aspects, 202Ð203 of test results, 359 social aspects of, 213 Sex selection, prenatal genetic diagnosis, Storage of specimens, for genetic testing, ethical issues, 198Ð200, 203 informed consent for, 311Ð312 Shortened limbs, trisomy 21 diagnosis, 186 Stress: Sickle cell disease: in adult-onset hereditary disorders testing: carrier screening, 261Ð263 disclosure of results, counseling insurance discrimination and, 162 guidelines, 66Ð67 susceptibility testing, 289 negative results (absence of mutation), Sickle cell trait, 162 70Ð71 susceptibility testing, 289 positive results (presence of mutation), Simultaneous multiple gene testing, levels of, 67Ð70 289Ð290 during pretest phase, 66 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

592 Index

Stress (Continued ) risks of, 286 communication of results as trigger for, simultaneous multiple genetic testing, 369Ð370 289Ð290 genetic counseling and role of, 3 Symptomatic patients, diagnostic testing, psychological aspects of genetic hereditary nonpolyposis colon counseling and testing and: cancer, 371Ð372 clinical implications, 74Ð77 Systems approach, newborn screening coping strategies for, 58Ð59 programs, 245 potential for harm from, 56t recognition of, 57Ð58 Talent identifications, actual vs. potential Summary letters, as genetic educational applications of genetic information tool, 49Ð50 and, 433Ð434 Support groups, web resources, 357, Tamoxifen, breast cancer prevention 450Ð451 and, 391Ð392 Susceptibility testing: bilateral breast cancer risk, 392Ð393 alpha-1-antitrypsin deficiency, 272 Tandem mass spectrometry (TMS): benefits and risks, 269Ð270 disease diagnosis, 304Ð307 in children, 279Ð282 newborn screening, 240, 250Ð252 benefits of, 280Ð281 cost effectiveness of, 248Ð250 decision making principles, 282 cost issues, 241 ethical issues, 279Ð280 current status, 252 potential harm, 281 MCAD deficiency, 242Ð243 risk-benefit tradeoff, 288Ð289 PKU screening, 242Ð243 defined, 21 Target populations, carrier direct to consumer testing, 290Ð291 screening, 256Ð257 disease vs. traits, testing for, 289 Tay-Sachs disease, carrier screening, 255 ethical issues, 287 Ashkenazi Jewish population, 263Ð265 genetic determination, 288 case study, 255Ð256 genetic discrimination based on, protocols for, 256Ð258 287Ð288 Technical advances, in genetics genetic reductionism, 288 testing, 320Ð321 genetic testing: genetic innovation and protection of case study, 282Ð283 information and, 431Ð432 risk-benefit analysis, 283Ð285 Terminology, in genetic testing, 30 goals and applications, 268Ð269 Test characteristics: government role in, 291 methodology of testing, 360 health care planning, 285 newborn screening, 247Ð248 hereditary cancer syndromes: Test results: breast/ovarian cancer, 273Ð276 in adult-onset hereditary disorders testing: colorectal cancer, 276Ð278 ambiguous results, 71Ð72 familial adenomatous polyposis, negative results (absence of mutation), 278Ð279 70Ð71 hereditary hemochromatosis, 270Ð272 positive results (presence of mutation), neurogenetic testing, 235Ð236 67Ð70 overview of, 268 clinical management applications, preimplantation genetic diagnosis, ethical 310Ð311 issues, 200Ð201 communication of: resources for, 285Ð286 language used in, 366Ð368 risk prediction vs. diagnosis, 287 patient comprehension, 359Ð363 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

Index 593

risk information, 363Ð365 “Triple screen” protocol: setting for, 366 Down syndrome diagnosis, 176Ð177 timing of communication, 365 prenatal screening and disclosure issues with, 400Ð402 diagnosis, 164Ð165 impact of pretest procedures on, 357 maternal serum screening, 196 interpretation of, 363Ð365 Trisomy 18: laboratory reporting responsibilities, prenatal screening and 309 diagnosis, 183Ð188 miscommunication of, 25 first-trimester screening, 184 newborn screening, positive results, integrated biochemistry-only confirmation of, 244 screening, 184 overview of, 355Ð356 second-trimester screening, patient comprehension of, 27Ð28 183Ð184 reporting and interpretation, 324Ð326 triple or quad screen test, 196 resources for, 378 Trisomy 21, prenatal screening and validity and utility, informed consent diagnosis: and, 134Ð135 echogenic intracardiac focus, 187 web resources for, 356 hyperechoic bowel, 186 Test selection criteria, family history and increased nuchal fold, 185Ð186 genetic screening, 102Ð103 nasal bone abnormalities, 188 Thalassemias, carrier screening for, renal pyelectasis, 187 256Ð257, 261Ð263 second-trimester ultrasound markers, Thanatophoric dysplasia, risk assessment 185Ð188 for, 348 shortened limbs, 186 Therapeutic model of care, genetic testing Trust: and, 4 in communication of genetic test results, Third party protection, recontacting patients 40Ð42 and duty of, 422Ð423 in physician-patient relationship, genetic Threshold values: testing and, 3Ð5 duty of recontacting and, 419 Twin studies: newborn screening, 239Ð240 epilepsy, 228Ð230 Tone of communication, in genetic neurogenetics, 223Ð225 testing, 30 schizophrenia, 231Ð232 Tort actions, diagnostic genetics testing, 123Ð127 Ubiquitin C-terminalhydrolase L1 (UCHL1) elements of tort claims, 124Ð125 gene, Parkinson’s wrongful adoption, 126Ð127 disease, 227Ð228 wrongful birth, 123Ð124 Ultrasound examination: wrongful life, 125Ð126 open neural tube defects, 173Ð175 Traditional medicine, genetic medicine prenatal diagnosis and screening, 196 vs., 17Ð18 “routinization” of, 210Ð211 “Tragedy of anticommons” in gene trisomy 21 diagnosis, 185Ð188 patenting, 333Ð335 Unconjugated estriol (MSuE3): Traits, susceptibility testing for, 289 Down syndrome diagnosis, Translators: 176Ð177 educational activities of, 49Ð50 mechanisms of, 179 genetic testing and role of, 37Ð40 United States abortion laws, 204Ð205 family and friends as, 39Ð40 Utility of testing, informed consent and, on-site translators, 37Ð38 134Ð135 JWDD008-IND JWDD008-Sharpe November 11, 2005 16:34 Char Count= 0

594 Index

Validity of testing, informed consent and, for languages, 446 134Ð135 law and legislation on genetics, 143, 446 Values and beliefs, communication in patient education and risk communication, genetic testing and counseling and 356, 449 impact of, 26Ð27 policy issues, 145, 446, 450 Videos: prenatal/neonatal testing, 447Ð448 as genetic counseling educational tool, professional organizations, 448Ð449 49Ð50 professional organizations on, 10Ð11 informed consent and use of, 142Ð143 psychological aspects of genetics, 449 public health, 145, 449Ð450 Web resources: referral criteria, 118 availability of genetic testing, 317 risk communication, 145, 450 cancer genetics, 443 support groups, 357, 450Ð451 confidentiality and disclosure of test Women’s Health Initiative (WHI) study, results, 408 breast cancer risk and hormone continuing education, 443Ð444 replacement therapy, 395Ð397 continuing medical education, genetics, Wrongful abortion claims, prenatal genetic 9 diagnosis, 116 for diagnostic genetics, 110 Wrongful adoption claims, diagnostic ethics of genetics testing and counseling, genetics and, 126Ð127 444 Wrongful birth claims, diagnostic genetics family history, 444 and: genetic counseling organizations, 9Ð11, prenatal genetic diagnosis, 112Ð114 356, 445 tort actions, 123Ð124 genetic research, 445 Wrongful life claims, diagnostic genetics genetics clinic directory, 356 and: genetic terminology, 444 prenatal genetic diagnosis, 112, genetic testing, 143Ð144, 445 115Ð116 glossary of terms, 10, 445 tort claims, 125Ð126 for informed consent, 143Ð145 insurance in, 446 X-linked recessive pedigree, risk assessment, laboratories for genetic testing, 10, 446 344Ð345