Genetic Testing: Care, Consent and Liability

Genetic Testing......Page 3
Contents......Page 9
Contributors......Page 21
Foreword......Page 25
Introduction......Page 29
Core Concepts......Page 30
Trust, Genetic Testing, and the Physician–Patient Relationship......Page 31
Genetic Counseling and the Physician–Patient Relationship......Page 33
Nondirectiveness......Page 34
Web Resources......Page 37
Introduction to Genetic Counseling......Page 39
Historical Perspective and the Role of Nondirectiveness in Genetic Counseling......Page 40
Practice of Genetic Counseling Today......Page 41
Genetic Counselor Goals......Page 42
Important Cultural Considerations in Genetic Counseling......Page 43
Factors That Promote Effective Genetic Counseling......Page 44
Genetics in Mainstream Medical Care: The Emerging Milieu......Page 45
Categories of Genetic Testing: Issues to Consider......Page 46
Summary......Page 50
Overview......Page 52
Need To Know......Page 55
Standards......Page 56
Obligations......Page 57
Terms, Tone, and Follow-up......Page 58
Culture and Communication in the Realm of Fetal Diagnosis: Unique Considerations for Latino Patients......Page 59
Miscommunication and Prenatal Genetic Care......Page 60
Idioms and Jargon......Page 61
Suggestions......Page 62
Genetic Consultation......Page 63
Opportunistic Observation......Page 64
Genetic Consultation......Page 65
Interview after Consultation......Page 66
Family and Friends as Translators......Page 67
Woman Who Declined Amniocentesis......Page 68
Woman Who Accepted Amniocentesis......Page 69
Discussion: Communication, Miscommunication, and Genetic Counseling......Page 70
History......Page 72
Background and Diagnostic Criteria for NF1......Page 73
Introduction......Page 74
Educational Tools and Facilitators......Page 76
Decision Making: Considerations and Approaches......Page 78
Introduction......Page 81
Scenario 2......Page 82
Need to Know......Page 83
Potential for Psychological Benefit......Page 84
Recognizing Psychological Stress......Page 85
Coping with Stress Induced by Genetic Counseling and Testing......Page 86
Factors Affecting Perception......Page 87
Standards and Interpretation......Page 88
Introduction......Page 89
Process of Genetic Testing......Page 90
Pretest Genetic Counseling Phase......Page 91
Posttest Counseling Phase: Disclosure of the Genetic Test Result......Page 94
Test Result Indicating Presence of Genetic Mutation......Page 95
Negative Test Result Indicating Absence of Genetic Mutation......Page 98
Receiving an Ambiguous Genetic Test Result......Page 99
Impact of Genetic Testing on the Family......Page 100
Societal and Ethical Issues Linked to Psychosocial Outcomes......Page 101
Clinical Implications......Page 102
Summary......Page 105
Overview......Page 107
Standard of Care......Page 108
Duty of Care......Page 109
Introduction......Page 113
Clinical Scenario......Page 116
Inaccurate or Incomplete Information......Page 117
Prenatal and Neonatal Testing......Page 118
Family History in Adult-Onset Disorders......Page 120
Overview......Page 121
Genetic Risk Assessment Strategies for Individuals......Page 122
Review of Family History......Page 123
Molecular Testing......Page 125
Goals of Genetic Counseling and Education......Page 126
Pedigree Analysis......Page 127
Personal History......Page 128
Physical Examination......Page 129
Genetic Testing......Page 130
Management and Prevention......Page 132
Summary......Page 134
Case Scenario......Page 135
Approaches to Diagnosis of Genetic Disease......Page 136
Competency and the Obligation to Refer......Page 138
Prenatal/Neonatal Diagnosis......Page 139
Wrongful Birth......Page 141
Wrongful Life......Page 143
Wrongful Abortion......Page 144
Criteria for Referral......Page 145
Referral and Primary Care Physicians......Page 148
Wrongful Birth......Page 151
Elements of a Tort Claim......Page 152
Wrongful Life......Page 153
Wrongful Adoption......Page 154
Informed Consent......Page 156
Legal Models of Informed Consent......Page 158
Genetics Model of Informed Consent......Page 159
Disclosure and Consent......Page 160
Test Validity and Utility......Page 162
Communication......Page 164
The Form......Page 165
Place and Time Allocated for Discussion......Page 166
Tone and Manner......Page 167
Cultural and Socioeconomic Differences......Page 168
Linguistic Differences......Page 169
Pamphlets, Videos, and Computer Aids......Page 170
Web Resources......Page 171
Introduction......Page 174
Has Genetic Discrimination Increased Since Inception of Human Genome Project?......Page 177
More Complications: Predictive Complexity and Genetic Conditions......Page 179
Current Legal Status......Page 181
The Future......Page 182
Introduction......Page 184
Health Insurance......Page 185
Life and Other Insurance......Page 188
Introduction......Page 191
Prenatal Screening......Page 192
Prenatal Diagnostic Testing......Page 193
Societal Issues and Public Policies Relating to Prenatal Screening and Diagnosis......Page 194
Basic Concepts of Prenatal Screening......Page 195
Screening for Neural Tube Defects......Page 197
Metabolism of AFP and screening for ONTD......Page 198
Detailed Ultrasound Examination in ONTD......Page 201
AFAFP and AChE......Page 202
Prenatal Screening for Down Syndrome......Page 203
Dimeric Inhibin A......Page 206
Fetal Ultrasound Nuchal Translucency......Page 207
Second-Trimester Down Syndrome Screening......Page 209
Integrated First- and Second-Trimester Screening......Page 210
Second-Trimester Screening for Trisomy 18......Page 211
Integrated Biochemistry-Only Screening for Trisomy 18......Page 212
Increased Nuchal Fold......Page 213
Shortened Limbs......Page 214
Renal Pyelectasis......Page 215
Summary......Page 216
Prenatal Diagnosis and Preimplantation Genetic Diagnosis: Legal and Ethical Issues......Page 217
Prenatal Diagnosis......Page 218
Preimplantation Genetic Diagnosis......Page 220
Evidence-Based Access: Standards of Usefulness......Page 221
Family History......Page 222
Maternal Age......Page 223
Other Medical Factors......Page 224
Obligations of the Health Care Provider......Page 225
Sex Selection......Page 226
Testing for Susceptibility and Late-Onset Conditions......Page 228
Selecting for Disability......Page 229
Potential Stigmatization of Persons with Disabilities......Page 230
Where Do We Draw the Line?......Page 231
The United States......Page 232
Canada......Page 233
Informed Consent and Genetic Counseling......Page 234
Barriers to Informed Consent in the PND Context......Page 236
Information about the Procedures......Page 237
Information about the Genetic Conditions......Page 239
Range of Options Available upon Finding an Abnormal Result......Page 240
Social Pressures to Make the “Right” Decision......Page 241
Pre- and Posttest Counseling......Page 242
Structuring the Genetic Counseling Session......Page 243
Final Thoughts: Can Genetic Counseling be Nondirective?......Page 244
Confidentiality......Page 245
Overview......Page 247
Alzheimer’s Disease......Page 248
Autism......Page 249
Debatable Value of Genetic Testing......Page 250
Research Methods in Neurogenetics......Page 251
Genetics of Alzheimer’s disease......Page 253
Genetics of Parkinson’s Disease......Page 254
Genetics of the Epilepsies......Page 256
Genetics of Autism......Page 258
Genetics of Schizophrenia......Page 259
Genetics of Bipolar Disorder......Page 260
Genetics of Conduct Disorder......Page 261
Emerging Issues in Neurogenetic Testing......Page 262
Conclusion......Page 264
Introduction......Page 266
Core Concepts......Page 267
Introduction......Page 269
PKU and Congenital Hypothyroidism......Page 270
MCAD Deficiency......Page 271
Principles of Newborn Screening......Page 272
Systems Approach to Newborn Screening Programs......Page 273
Consent......Page 274
Test Characteristics......Page 275
Cost-Effectiveness......Page 276
Newborn Screening Technologies......Page 278
Current Status of Newborn Screening......Page 280
Inclusion Criteria......Page 281
Introduction......Page 282
Case History......Page 283
Development of a Screening Protocol......Page 284
Cystic Fibrosis......Page 286
Common Diseases in the Ashkenazi Jewish Population......Page 291
Other Potential Areas of Genetic Carrier Screening......Page 294
Conclusion......Page 295
Goals and Applications of Susceptibility Testing......Page 296
Benefits and Risks of Susceptibility Testing......Page 297
Hereditary Hemochromatosis......Page 298
Alpha-1-Antitrypsin Deficiency......Page 300
Hereditary Breast/Ovarian Cancer Syndromes......Page 301
Hereditary Nonpolyposis Colon Cancer......Page 304
Familial Adenomatous Polyposis......Page 306
Issues Arising in the Genetic Testing of Children and Adolescents......Page 307
Values, Guiding Principles, and Recommendations......Page 308
Case Scenario......Page 310
Introduction......Page 311
Points for Discussion......Page 312
Who Will Provide Genetic Susceptibility Testing?......Page 313
Understanding Risk......Page 314
Genetic Discrimination......Page 315
Genetic Susceptibility Testing in Children......Page 316
Testing for Multiple Genes Simultaneously......Page 317
Direct to Consumer Testing......Page 318
Summary......Page 319
Scenario 1......Page 320
Scenario 2......Page 321
Types of Genetic Tests......Page 322
Burden of Disease: Indications for Testing......Page 324
Chromosomal Anomalies as Causes of Developmental Disorders......Page 325
Molecular and Biochemical Genetic Diagnosis of Disease......Page 330
Ordering and Interpretation of Tests: Obligations for the Clinician......Page 335
Laboratory Performance: Obligations for Laboratories......Page 337
Use of Research Testing in Clinical Management......Page 338
Consent to Store Specimens Compared to Consent to Test......Page 339
Clinical Significance of Test Results......Page 340
Process Issues......Page 341
Introduction......Page 342
Availability of Genetic Testing......Page 343
Who Should Be Tested?......Page 345
Types of Genetic Testing......Page 346
Choosing a Testing Laboratory......Page 347
Utilizing New Technologies......Page 348
Providing Physician and Patient Information......Page 349
Sample Requirements......Page 350
Reporting and Interpreting Results......Page 352
Posttest Recommendations......Page 355
Introduction......Page 356
Human Gene Patent Debate......Page 357
Role of Patents in Stimulating Innovation......Page 359
Impact of Patents on the Research and Clinical Environment......Page 361
Impact of Gene Patents on Clinical Genetic Testing Services......Page 363
Myriad Genetics......Page 364
Conclusion......Page 365
Need to Know......Page 368
Watch Out For......Page 370
Introduction......Page 371
Approach to Risk Calculation......Page 372
Case 1: Huntington Disease......Page 373
Case 2: Cystic Fibrosis......Page 374
Case 4: FGFR3, Achondroplasia, and Thanatophoric Dwarficsm......Page 375
Case 5: Null Alleles......Page 376
Case 6: Founder Mutations and Breast Cancer Gene Testing......Page 377
Case 7: Linkage Analysis and Alport Syndrome......Page 378
Laboratory Test Limitations (Disclaimers)......Page 380
Appendix: Mutation Nomenclature......Page 381
Overview......Page 383
Web Resources......Page 384
Pretest Factors That Influence Successful Giving of Genetic Test Results......Page 385
Case Examples......Page 386
Comprehension of Genetic Tests and Communicating Risk......Page 387
Interpretation of the Test Result......Page 391
Practical Steps to Communicating Genetic Test Results......Page 393
Case Discussion......Page 399
Follow-up and Aftercare......Page 406
Conclusion......Page 408
Case Histories......Page 410
Introduction......Page 411
Average Woman’s Risk of Breast and Ovarian Cancer......Page 412
Signs of Increased Hereditary Risk......Page 413
Origin of Hereditary and Nonhereditary Cancers......Page 414
BRCA Mutations and Genetic Testing......Page 415
Risks Associated with BRCA Mutations......Page 416
BRCA Mutations and Breast Conservation......Page 418
Average Risk......Page 419
Family History of Breast Cancer......Page 420
BRCA Mutation Carriers......Page 421
Women’s Health Initiative Study......Page 422
Conclusion......Page 425
Overview......Page 426
Genetic Test Results and Disclosure......Page 428
Duty to Warn: Genetic Information......Page 431
Risks and Harm......Page 435
Web Resources......Page 436
Introduction......Page 437
Communication of Results in Research Settings......Page 438
Duty to Recontact in Clinical Settings......Page 439
Duty to Warn Family Members......Page 441
Discussion......Page 442
Ethical, Legal, and Practical Concerns about Recontacting Patients to Inform them of New Information: The Case in Medical Genetics......Page 443
Overview......Page 444
When Is Recontact Appropriate?......Page 445
Does the Patient Want to Know?......Page 446
Patient Obigations......Page 447
Methods of Contact......Page 448
Continuing Duty of Care......Page 449
Duty to Protect Third Parties......Page 450
Information-Only Services......Page 451
Summary......Page 452
Appendix 1 New Genetics and the Protection of Information......Page 453
Appendix 2 Web Resources......Page 471
References......Page 481
Index......Page 595