Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling illustrates the current scope of the practice of genetics for healthcare professionals, so they can understand principles applicable to genetic testing and consultation. Written by an authoritative well-balanced team, including experienced clinical geneticists, genetic counselors, and medical subspecialists, this book adopts an accessible, easy-to-follow format. Sections are dedicated to basic genetic principles; clinical genetic and genomic testing; prenatal, clinical and cancer genetic diagnosis and counseling; and ethical and social implications in genomic medicine. Over 100 illustrative cases examine a range of prenatal, pediatric and adult genetic conditions and testing, putting these concepts and approaches into practice. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling is important for primary care providers, as patient care evolves in the current genomic-influenced world of precision medicine.
1. Chapter 1. Introduction - p. 1 2. Chapter 2. Basic Principles of Genetics and Genomics - p. 5 3. Chapter 3. Genetic Counseling and Referrals - p. 29 4. Chapter 4. Prenatal Genetics and Referrals - p. 35 5. Chapter 5. Clinical Genetics and Referrals - p. 45 6. Chapter 6. Genetic and Genomic Testing - p. 73 7. Chapter 7. Genetic and Genomic Results and Management - p. 93 8. Chapter 8. Cancer Genetics Referrals and Management - p. 111 9. Chapter 9. Direct-to-Consumer Testing - p. 127 10. Chapter 10. Ethical and Psychosocial Issues - p. 133 11. Chapter 11. Case Scenarios - p. 141 12. Section 11.1: Prenatal Cases - p. 141 13. Case 11.1.1. Prenatal Cases: Positive Carrier Screening in Pregnancy - p. 147 14. Case 11.1.2. Prenatal Cases: Maternal Diabetes Exposure - p. 151 15. Case 11.1.3. Prenatal Cases: Advanced Maternal Age - p. 153 16. Case 11.1.4. Prenatal Cases: Noninvasive Prenatal Screening Positive for Sex Chromosome Abnormality - p. 155 17. Case 11.1.5. Prenatal Cases: Fetal Anomalies - p. 159 18. Case 11.1.6. Prenatal Cases: Clubfeet and Decreased Fetal Movement - p. 163 19. Case 11.1.7. Prenatal Cases: Recurrent Pregnancy Loss - p. 166 20. Case 11.1.8. Prenatal Cases: Preimplantation Genetic Testing for a Single Gene Disorder - p. 171 21. Section 11.2: Newborn Screening Cases - p. 172 22. Case 11.2.1. Newborn Screening Cases: False Positive Newborn Screening - p. 175 23. Case 11.2.2. Newborn Screening Cases: Abnormal Newborn Metabolic Screening - p. 177 24. Case 11.2.3. Newborn Screening Cases: Abnormal Newborn Hearing Screening - p. 179 25. Case 11.2.4. Newborn Screening Cases: Abnormal Newborn Neuromuscular Screening - p. 183 26. Section 11.3: Craniofacial Cases - p. 185 27. Case 11.3.1. Craniofacial Cases: Congenital Microcephaly - p. 189 28. Case 11.3.2. Craniofacial Cases: Misshapen Head - p. 193 29. Case 11.3.3. Craniofacial Cases: Congenital Nystagmus - p. 197 30. Case 11.3.4. Craniofacial Cases: Loss of Central Vision - p. 201 31. Case 11.3.5. Craniofacial Cases: Bilateral Retinal Detachment - p. 207 32. Case 11.3.6. Craniofacial Cases: Acquired Night Blindness - p. 211 33. Case 11.3.7. Craniofacial Cases: Congenital Hearing Loss - p. 217 34. Case 11.3.8. Craniofacial Cases: Hearing Loss and Renal Agenesis - p. 221 35. Case 11.3.9. Craniofacial Cases: Hearing Loss and Night Blindness in a Teenager - p. 225 36. Case 11.3.10. Craniofacial Cases: Cleft Palate - p. 229 37. Section 11.4: Cardiovascular and Pulmonary Cases - p. 232 38. Case 11.4.1. Cardiovascular and Pulmonary Cases: Recurrent Pneumonias - p. 235 39. Case 11.4.2. Cardiovascular and Pulmonary Cases: Dyspnea with History of Neonatal Jaundice - p. 239 40. Case 11.4.3. Cardiovascular and Pulmonary Cases: Pulmonic Stenosis and Short Stature - p. 243 41. Case 11.4.4. Cardiovascular and Pulmonary Cases: Severe Palpitations - p. 249 42. Case 11.4.5. Cardiovascular and Pulmonary Cases: Exercise-Induced Syncope - p. 253 43. Case 11.4.6. Cardiovascular and Pulmonary Cases: Hyperlipidemia - p. 257 44. Case 11.4.7. Cardiovascular and Pulmonary Cases: Myocardial Infarction in a Healthy Adult - p. 261 45. Case 11.4.8. Cardiovascular and Pulmonary Cases: Cardiomyopathy and Peripheral Neuropathy - p. 265 46. Section 11.5: Gastrointestinal Cases - p. 268 47. Case 11.5.1. Gastrointestinal Cases: Bowel Obstruction in an Infant - p. 271 48. Case 11.5.2. Gastrointestinal Cases: Elevated Liver Transaminases in an Infant - p. 275 49. Case 11.5.3. Gastrointestinal Cases: Failure to Thrive - p. 277 50. Case 11.5.4. Gastrointestinal Cases: Obesity, Hypotonia, and Peripheral Vision Loss - p. 281 51. Case 11.5.5. Gastrointestinal Cases: Acute Abdominal Pain - p. 285 52. Case 11.5.6. Gastrointestinal Cases: Abdominal Pain and Arthralgias - p. 289 53. Section 11.6: Metabolic Cases - p. 291 54. Case 11.6.1. Metabolic Cases: Sweet Smell in an Infant - p. 295 55. Case 11.6.2. Metabolic Cases: Apparent Life-Threatening Event - p. 297 56. Case 11.6.3. Metabolic Cases: Hypoglycemia in a Child - p. 301 57. Case 11.6.4. Metabolic Cases: Recurrent Vomiting and Language Delay - p. 303 58. Case 11.6.5. Metabolic Cases: Lactic Acidosis - p. 307 59. Case 11.6.6. Metabolic Cases: Hunger and Protein Intake in a Metabolic Condition - p. 311 60. Section 11.7: Endocrinologic and Growth Cases - p. 312 61. Case 11.7.1. Endocrinologic and Growth Cases: Overgrowth - p. 315 62. Case 11.7.2. Endocrinologic and Growth Cases: Macrocephaly and Tall Stature in a Toddler - p. 319 63. Case 11.7.3. Endocrinologic and Growth Cases: Diabetes - p. 323 64. Case 11.7.4. Endocrinologic and Growth Cases: Short Stature - p. 327 65. Case 11.7.5. Endocrine and Growth Cases: Small Stature and Delayed Puberty - p. 331 66. Case 11.7.6. Endocrine and Growth Cases: Pubertal Delay, Hearing Loss, and Lack of Smell - p. 335 67. Section 11.8: Genitourinary Cases - p. 337 68. Case 11.8.1. Genitourinary Cases: Ambiguous Genitalia - p. 341 69. Case 11.8.2. Genitourinary Cases: Familial Renal Disease - p. 345 70. Case 11.8.3. Genitourinary Cases: Renal Cysts - p. 347 71. Section 11.9: Hematologic and Immunologic Cases - p. 348 72. Case 11.9.1. Hematologic and Immunologic Cases: Bleeding Disorder - p. 353 73. Case 11.9.2. Hematologic and Immunologic Cases: Recurrent Infections in Childhood - p. 357 74. Case 11.9.3. Hematologic and Immunologic Cases: Chronic Thrombocytopenia in a Child - p. 363 75. Case 11.9.4. Hematologic and Immunologic Cases: Thrombocytopenia in an Adult - p. 367 76. Case 11.9.5. Hematologic and Immunologic Cases: Bone Marrow Failure - p. 371 77. Section 11.10: Skeletal and Connective Tissue Cases - p. 373 78. Case 11.10.1. Skeletal and Connective Tissue Cases: Asymmetric Leg Size in an Infant - p. 377 79. Case 11.10.2. Skeletal and Connective Tissue Cases: Disproportionate Short Stature - p. 381 80. Case 11.10.3. Skeletal and Connective Tissue Cases: Multiple Fractures - p. 387 81. Case 11.10.4. Musculoskeletal Cases: Tall and Lean with Nonspecific Hip Pain - p. 391 82. Case 11.10.5. Musculoskeletal Cases: Chronic Musculoskeletal Pain and Fatigue - p. 397 83. Section 11.11: Dermatologic Cases - p. 400 84. Case 11.11.1. Dermatologic Cases: Infant with Nystagmus and Fair Skin - p. 403 85. Case 11.11.2. Dermatologic Cases: Multiple Café au Lait Spots - p. 407 86. Case 11.11.3. Dermatologic Cases: Abnormal Teeth in a Toddler - p. 411 87. Section 11.12: Neurodevelopmental Cases - p. 413 88. Case 11.12.1. Neurodevelopmental Cases: Developmental Stagnation and Regression - p. 417 89. Case 11.12.2. Neurodevelopmental Cases: Delayed Speech, Polydactyly, and Short Stature - p. 421 90. Case 11.12.3. Neurodevelopmental Cases: Delayed Development in Early Childhood - p. 425 91. Case 11.12.4. Neurodevelopmental Cases: Autism Spectrum Disorder - p. 429 92. Case 11.12.5. Neurodevelopmental Cases: Cognitive Issues and Tall Stature - p. 433 93. Section 11.13: Neurologic and Muscular Cases - p. 435 94. Case 11.13.1. Neurologic and Muscular Cases: Congenital Hypotonia and Feeding Difficulties - p. 439 95. Case 11.13.2. Neurologic and Muscular Cases: Dysmorphic Features and Hypotonia - p. 443 96. Case 11.13.3. Neurologic and Muscular Cases: Seizures in an Infant - p. 447 97. Case 11.13.4. Neurologic and Muscular Disease: Clubfeet and Lack of Facial Expression - p. 451 98. Case 11.13.5. Neurologic and Muscular Cases: Abnormal Gait in a Toddler - p. 455 99. Case 11.13.6. Neurologic and Muscular Cases: Abnormal Movements and Posturing - p. 459 100. Case 11.13.7. Neurologic and Muscular Cases: Dystonia Family History - p. 463 101. Case 11.13.8. Neurologic and Muscular Cases: Slowness and Loss of Facial Expression in a Young Adult - p. 467 102. Case 11.13.9. Neurologic and Muscular Cases: Progressive Gait Impairment and Genitourinary Dysfunction - p. 471 103. Case 11.13.10. Neurologic and Muscular Cases: Progressive Ataxia - p. 475 104. Case 11.13.11. Neurologic and Muscular Cases: Intention Tremor and Difficulty with Balance - p. 479 105. Case 11.13.12. Neurologic and Muscular Cases: Chorea - p. 483 106. Section 11.14: Psychiatric Cases - p. 486 107. Case 11.14.1. Psychiatric Cases: Early-Onset Dementia - p. 489 108. Cases 11.14.2. Psychiatric Cases: Psychosis and Learning Disabilities - p. 493 109. Case 11.14.3. Psychiatric Cases: Bipolar Disorder and Stevens–Johnson Syndrome - p. 495 110. Section 11.15: Pharmacogenomic Cases - p. 496 111. Case 11.15.1. Pharmacogenomic Cases: Warfarin for Atrial Fibrillation - p. 499 112. Case 11.15.2. Pharmacogenomic Cases: Clopidogrel for Coronary Artery Disease - p. 503 113. Case 11.15.3. Pharmacogenomic Cases: Thiopurine for Acute Lymphoblastic Leukemia - p. 507 114. Section 11.16: Cancer Cases - p. 509 115. Case 11.16.1. Cancer Cases: Breast Cancer Gene Mutation Found Incidentally - p. 513 116. Case 11.16.2. Cancer Cases: Ovarian Cancer Family History - p. 517 117. Case 11.16.3. Cancer Cases: Family History of Lynch Syndrome - p. 519 118. Case 11.16.4. Cancer Cases: Prostate Cancer - p. 523 119. Case 11.16.5. Cancer Cases: Pancreatic Cancer - p. 527 120. Case 11.16.6. Cancer Cases: Adrenocortical Carcinoma and Leukemia - p. 531 121. Case 11.16.7. Cancer Cases: Macrocytic Anemia and Idiopathic Pulmonary Fibrosis - p. 535 122. Section 11.17: Direct-to-Consumer Cases - p. 537 123. Case 11.17.1. Direct-to-Consumer Cases: Breast Cancer Family History - p. 541 124. Case 11.17.2. Direct to Consumer Cases: Predisposition of a Multifactorial Condition by Direct-to-Consumer Testing - p. 545 125. Case 11.17.3. Direct-to-Consumer Cases: Identification of Birth Family History by Direct-to-Consumer Testing - p. 549 126. Case 11.17.4. Direct-to-Consumer Cases: Metabolic and Neurologic Disease Risk by Direct-to-Consumer Testing - p. 553 127. Case 11.17.5. Direct-to-Consumer Cases: Risk for Late-Onset Alzheimer Disease by Direct-to-Consumer Testing - p. 557 128. Case 11.17.6. Direct-to-Consumer Cases: Wellness Report By Direct-to-Consumer Testing - p. 561 129. Section 11.18: Ethical Issues Cases - p. 562 130. Case 11.18.1. Ethical Issues Cases: Predictive Testing in an Adolescent with Positive Family History - p. 565 131. Case 11.18.2. Ethical Issues Cases: Preconception Sex Selection - p. 569 132. Section 12: Communicating Genetics and Genomics - p. 571 133. Chapter 12. Communicating Genetics and Genomics - p. 573 134. Index - p. 589
Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling illustrates the current scope of the practice of genetics for healthcare professionals, so they can understand principles applicable to genetic testing and consultation. Written by an authoritative well-balanced team, including experienced clinical geneticists, genetic counselors, and medical subspecialists, this book adopts an accessible, easy-to-follow format. Sections are dedicated to basic genetic principles; clinical genetic and genomic testing; prenatal, clinical and cancer genetic diagnosis and counseling; and ethical and social implications in genomic medicine. Over 100 illustrative cases examine a range of prenatal, pediatric and adult genetic conditions and testing, putting these concepts and approaches into practice. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling is important for primary care providers, as patient care evolves in the current genomic-influenced world of precision medicine.
1. Chapter 1. Introduction - p. 1 2. Chapter 2. Basic Principles of Genetics and Genomics - p. 5 3. Chapter 3. Genetic Counseling and Referrals - p. 29 4. Chapter 4. Prenatal Genetics and Referrals - p. 35 5. Chapter 5. Clinical Genetics and Referrals - p. 45 6. Chapter 6. Genetic and Genomic Testing - p. 73 7. Chapter 7. Genetic and Genomic Results and Management - p. 93 8. Chapter 8. Cancer Genetics Referrals and Management - p. 111 9. Chapter 9. Direct-to-Consumer Testing - p. 127 10. Chapter 10. Ethical and Psychosocial Issues - p. 133 11. Chapter 11. Case Scenarios - p. 141 12. Section 11.1: Prenatal Cases - p. 141 13. Case 11.1.1. Prenatal Cases: Positive Carrier Screening in Pregnancy - p. 147 14. Case 11.1.2. Prenatal Cases: Maternal Diabetes Exposure - p. 151 15. Case 11.1.3. Prenatal Cases: Advanced Maternal Age - p. 153 16. Case 11.1.4. Prenatal Cases: Noninvasive Prenatal Screening Positive for Sex Chromosome Abnormality - p. 155 17. Case 11.1.5. Prenatal Cases: Fetal Anomalies - p. 159 18. Case 11.1.6. Prenatal Cases: Clubfeet and Decreased Fetal Movement - p. 163 19. Case 11.1.7. Prenatal Cases: Recurrent Pregnancy Loss - p. 166 20. Case 11.1.8. Prenatal Cases: Preimplantation Genetic Testing for a Single Gene Disorder - p. 171 21. Section 11.2: Newborn Screening Cases - p. 172 22. Case 11.2.1. Newborn Screening Cases: False Positive Newborn Screening - p. 175 23. Case 11.2.2. Newborn Screening Cases: Abnormal Newborn Metabolic Screening - p. 177 24. Case 11.2.3. Newborn Screening Cases: Abnormal Newborn Hearing Screening - p. 179 25. Case 11.2.4. Newborn Screening Cases: Abnormal Newborn Neuromuscular Screening - p. 183 26. Section 11.3: Craniofacial Cases - p. 185 27. Case 11.3.1. Craniofacial Cases: Congenital Microcephaly - p. 189 28. Case 11.3.2. Craniofacial Cases: Misshapen Head - p. 193 29. Case 11.3.3. Craniofacial Cases: Congenital Nystagmus - p. 197 30. Case 11.3.4. Craniofacial Cases: Loss of Central Vision - p. 201 31. Case 11.3.5. Craniofacial Cases: Bilateral Retinal Detachment - p. 207 32. Case 11.3.6. Craniofacial Cases: Acquired Night Blindness - p. 211 33. Case 11.3.7. Craniofacial Cases: Congenital Hearing Loss - p. 217 34. Case 11.3.8. Craniofacial Cases: Hearing Loss and Renal Agenesis - p. 221 35. Case 11.3.9. Craniofacial Cases: Hearing Loss and Night Blindness in a Teenager - p. 225 36. Case 11.3.10. Craniofacial Cases: Cleft Palate - p. 229 37. Section 11.4: Cardiovascular and Pulmonary Cases - p. 232 38. Case 11.4.1. Cardiovascular and Pulmonary Cases: Recurrent Pneumonias - p. 235 39. Case 11.4.2. Cardiovascular and Pulmonary Cases: Dyspnea with History of Neonatal Jaundice - p. 239 40. Case 11.4.3. Cardiovascular and Pulmonary Cases: Pulmonic Stenosis and Short Stature - p. 243 41. Case 11.4.4. Cardiovascular and Pulmonary Cases: Severe Palpitations - p. 249 42. Case 11.4.5. Cardiovascular and Pulmonary Cases: Exercise-Induced Syncope - p. 253 43. Case 11.4.6. Cardiovascular and Pulmonary Cases: Hyperlipidemia - p. 257 44. Case 11.4.7. Cardiovascular and Pulmonary Cases: Myocardial Infarction in a Healthy Adult - p. 261 45. Case 11.4.8. Cardiovascular and Pulmonary Cases: Cardiomyopathy and Peripheral Neuropathy - p. 265 46. Section 11.5: Gastrointestinal Cases - p. 268 47. Case 11.5.1. Gastrointestinal Cases: Bowel Obstruction in an Infant - p. 271 48. Case 11.5.2. Gastrointestinal Cases: Elevated Liver Transaminases in an Infant - p. 275 49. Case 11.5.3. Gastrointestinal Cases: Failure to Thrive - p. 277 50. Case 11.5.4. Gastrointestinal Cases: Obesity, Hypotonia, and Peripheral Vision Loss - p. 281 51. Case 11.5.5. Gastrointestinal Cases: Acute Abdominal Pain - p. 285 52. Case 11.5.6. Gastrointestinal Cases: Abdominal Pain and Arthralgias - p. 289 53. Section 11.6: Metabolic Cases - p. 291 54. Case 11.6.1. Metabolic Cases: Sweet Smell in an Infant - p. 295 55. Case 11.6.2. Metabolic Cases: Apparent Life-Threatening Event - p. 297 56. Case 11.6.3. Metabolic Cases: Hypoglycemia in a Child - p. 301 57. Case 11.6.4. Metabolic Cases: Recurrent Vomiting and Language Delay - p. 303 58. Case 11.6.5. Metabolic Cases: Lactic Acidosis - p. 307 59. Case 11.6.6. Metabolic Cases: Hunger and Protein Intake in a Metabolic Condition - p. 311 60. Section 11.7: Endocrinologic and Growth Cases - p. 312 61. Case 11.7.1. Endocrinologic and Growth Cases: Overgrowth - p. 315 62. Case 11.7.2. Endocrinologic and Growth Cases: Macrocephaly and Tall Stature in a Toddler - p. 319 63. Case 11.7.3. Endocrinologic and Growth Cases: Diabetes - p. 323 64. Case 11.7.4. Endocrinologic and Growth Cases: Short Stature - p. 327 65. Case 11.7.5. Endocrine and Growth Cases: Small Stature and Delayed Puberty - p. 331 66. Case 11.7.6. Endocrine and Growth Cases: Pubertal Delay, Hearing Loss, and Lack of Smell - p. 335 67. Section 11.8: Genitourinary Cases - p. 337 68. Case 11.8.1. Genitourinary Cases: Ambiguous Genitalia - p. 341 69. Case 11.8.2. Genitourinary Cases: Familial Renal Disease - p. 345 70. Case 11.8.3. Genitourinary Cases: Renal Cysts - p. 347 71. Section 11.9: Hematologic and Immunologic Cases - p. 348 72. Case 11.9.1. Hematologic and Immunologic Cases: Bleeding Disorder - p. 353 73. Case 11.9.2. Hematologic and Immunologic Cases: Recurrent Infections in Childhood - p. 357 74. Case 11.9.3. Hematologic and Immunologic Cases: Chronic Thrombocytopenia in a Child - p. 363 75. Case 11.9.4. Hematologic and Immunologic Cases: Thrombocytopenia in an Adult - p. 367 76. Case 11.9.5. Hematologic and Immunologic Cases: Bone Marrow Failure - p. 371 77. Section 11.10: Skeletal and Connective Tissue Cases - p. 373 78. Case 11.10.1. Skeletal and Connective Tissue Cases: Asymmetric Leg Size in an Infant - p. 377 79. Case 11.10.2. Skeletal and Connective Tissue Cases: Disproportionate Short Stature - p. 381 80. Case 11.10.3. Skeletal and Connective Tissue Cases: Multiple Fractures - p. 387 81. Case 11.10.4. Musculoskeletal Cases: Tall and Lean with Nonspecific Hip Pain - p. 391 82. Case 11.10.5. Musculoskeletal Cases: Chronic Musculoskeletal Pain and Fatigue - p. 397 83. Section 11.11: Dermatologic Cases - p. 400 84. Case 11.11.1. Dermatologic Cases: Infant with Nystagmus and Fair Skin - p. 403 85. Case 11.11.2. Dermatologic Cases: Multiple Café au Lait Spots - p. 407 86. Case 11.11.3. Dermatologic Cases: Abnormal Teeth in a Toddler - p. 411 87. Section 11.12: Neurodevelopmental Cases - p. 413 88. Case 11.12.1. Neurodevelopmental Cases: Developmental Stagnation and Regression - p. 417 89. Case 11.12.2. Neurodevelopmental Cases: Delayed Speech, Polydactyly, and Short Stature - p. 421 90. Case 11.12.3. Neurodevelopmental Cases: Delayed Development in Early Childhood - p. 425 91. Case 11.12.4. Neurodevelopmental Cases: Autism Spectrum Disorder - p. 429 92. Case 11.12.5. Neurodevelopmental Cases: Cognitive Issues and Tall Stature - p. 433 93. Section 11.13: Neurologic and Muscular Cases - p. 435 94. Case 11.13.1. Neurologic and Muscular Cases: Congenital Hypotonia and Feeding Difficulties - p. 439 95. Case 11.13.2. Neurologic and Muscular Cases: Dysmorphic Features and Hypotonia - p. 443 96. Case 11.13.3. Neurologic and Muscular Cases: Seizures in an Infant - p. 447 97. Case 11.13.4. Neurologic and Muscular Disease: Clubfeet and Lack of Facial Expression - p. 451 98. Case 11.13.5. Neurologic and Muscular Cases: Abnormal Gait in a Toddler - p. 455 99. Case 11.13.6. Neurologic and Muscular Cases: Abnormal Movements and Posturing - p. 459 100. Case 11.13.7. Neurologic and Muscular Cases: Dystonia Family History - p. 463 101. Case 11.13.8. Neurologic and Muscular Cases: Slowness and Loss of Facial Expression in a Young Adult - p. 467 102. Case 11.13.9. Neurologic and Muscular Cases: Progressive Gait Impairment and Genitourinary Dysfunction - p. 471 103. Case 11.13.10. Neurologic and Muscular Cases: Progressive Ataxia - p. 475 104. Case 11.13.11. Neurologic and Muscular Cases: Intention Tremor and Difficulty with Balance - p. 479 105. Case 11.13.12. Neurologic and Muscular Cases: Chorea - p. 483 106. Section 11.14: Psychiatric Cases - p. 486 107. Case 11.14.1. Psychiatric Cases: Early-Onset Dementia - p. 489 108. Cases 11.14.2. Psychiatric Cases: Psychosis and Learning Disabilities - p. 493 109. Case 11.14.3. Psychiatric Cases: Bipolar Disorder and Stevens–Johnson Syndrome - p. 495 110. Section 11.15: Pharmacogenomic Cases - p. 496 111. Case 11.15.1. Pharmacogenomic Cases: Warfarin for Atrial Fibrillation - p. 499 112. Case 11.15.2. Pharmacogenomic Cases: Clopidogrel for Coronary Artery Disease - p. 503 113. Case 11.15.3. Pharmacogenomic Cases: Thiopurine for Acute Lymphoblastic Leukemia - p. 507 114. Section 11.16: Cancer Cases - p. 509 115. Case 11.16.1. Cancer Cases: Breast Cancer Gene Mutation Found Incidentally - p. 513 116. Case 11.16.2. Cancer Cases: Ovarian Cancer Family History - p. 517 117. Case 11.16.3. Cancer Cases: Family History of Lynch Syndrome - p. 519 118. Case 11.16.4. Cancer Cases: Prostate Cancer - p. 523 119. Case 11.16.5. Cancer Cases: Pancreatic Cancer - p. 527 120. Case 11.16.6. Cancer Cases: Adrenocortical Carcinoma and Leukemia - p. 531 121. Case 11.16.7. Cancer Cases: Macrocytic Anemia and Idiopathic Pulmonary Fibrosis - p. 535 122. Section 11.17: Direct-to-Consumer Cases - p. 537 123. Case 11.17.1. Direct-to-Consumer Cases: Breast Cancer Family History - p. 541 124. Case 11.17.2. Direct to Consumer Cases: Predisposition of a Multifactorial Condition by Direct-to-Consumer Testing - p. 545 125. Case 11.17.3. Direct-to-Consumer Cases: Identification of Birth Family History by Direct-to-Consumer Testing - p. 549 126. Case 11.17.4. Direct-to-Consumer Cases: Metabolic and Neurologic Disease Risk by Direct-to-Consumer Testing - p. 553 127. Case 11.17.5. Direct-to-Consumer Cases: Risk for Late-Onset Alzheimer Disease by Direct-to-Consumer Testing - p. 557 128. Case 11.17.6. Direct-to-Consumer Cases: Wellness Report By Direct-to-Consumer Testing - p. 561 129. Section 11.18: Ethical Issues Cases - p. 562 130. Case 11.18.1. Ethical Issues Cases: Predictive Testing in an Adolescent with Positive Family History - p. 565 131. Case 11.18.2. Ethical Issues Cases: Preconception Sex Selection - p. 569 132. Section 12: Communicating Genetics and Genomics - p. 571 133. Chapter 12. Communicating Genetics and Genomics - p. 573 134. Index - p. 589
