Counseling About Cancer – Strategies for Genetic Counseling

Katherine A. Schneider, MPH, CGC, is Senior Genetic Counselor at the Dana-Farber Cancer Institute, Boston, MA. Anu Chittenden, MS, CGC, is Senior Genetic Counselor and Manager for Genetic Counselors at the Dana-Farber Cancer Institute, Boston, MA. Kristen Mahoney Shannon, MS, CGC, is Senior Genetic Counselor and Director of the Center for Cancer Risk Assessment, Massachusetts General Hospital Cancer Center, Boston, MA.

Foreword xi Preface xiii Acknowledgments xv Chapter 1: Cancer Diagnosis And Treatment 1 1.1. The Diagnosis of Cancer 1 1.2. Tumor Classification 8 1.3. Cancer Treatment 14 1.4. Risk Factors for Cancer 28 1.5. Case Examples 30 1.6. Discussion Questions 33 1.7. Further Reading 33 Chapter 2: Gastrointestinal Cancer Syndromes 35 2.1. Anatomy 36 2.2. Colorectal Cancer 45 2.3. Gastric (Stomach) Cancer 47 2.4. Pancreatic Cancer 49 2.5. Lynch Syndrome 51 2.6. Familial Adenomatous Polyposis/Attenuated Familial Adenomatous Polyposis 62 2.7. MUTYH-Associated Polyposis 68 2.8. NTHL1 Tumor Syndrome 73 2.9. Polymerase Proofreading-Associated Polyposis Syndrome 75 2.10. Juvenile Polyposis Syndrome 79 2.11. Peutz-Jeghers Syndrome 84 2.12. PTEN Hamartoma Tumor Syndromes 88 2.13. Hereditary Mixed Polyposis Syndrome 90 2.14. Serrated Polyposis Syndrome 92 2.15. Hereditary Diffuse Gastric Cancer Syndrome 96 2.16. Familial Atypical Multiple Mole Melanoma Syndrome 101 2.17. Hereditary Pancreatitis/Familial Pancreatitis 105 2.18. Short Reviews 111 2.19. Further Reading 114 Chapter 3: Breast And Gynecological Cancer Syndromes 129 3.1. Anatomy 129 3.2. Overview of Counseling Issues 131 3.3. Selected Breast and Gynecologic Syndromes 133 3.4. Case Examples 157 3.5. Discussion Questions 160 3.6. Further Reading 160 Chapter 4: Rare Tumor Predisposition Syndromes 163 4.1. Overview of Rare Tumor Syndromes 163 4.2. Overview of Counseling Issues with Rare Tumor Syndromes 171 4.3. Clinical Features of Selected Rare Tumor Syndromes 173 4.4. Case Examples 204 4.5. Discussion Questions 207 4.6. Further Reading 207 Chapter 5: Pediatric Tumor Predisposition Syndromes 209 5.1. Counseling Issues 209 5.2. Pediatric Tumor Predisposition Syndromes 213 5.3. Case Examples 262 5.4. Discussion Questions 265 5.5. Further Reading 266 Chapter 6: Cancer Family Histories (Collection And Interpretation) 269 6.1. Collecting a Cancer History 269 6.2. Challenges to Collecting an Accurate History 289 6.3. Interpreting a Cancer History 293 6.4. Case Examples 299 6.5. Discussion Questions 303 6.6. Further Reading 304 Chapter 7: Cancer Risk Assessment And Risk Models 307 7.1. Risk Definitions 308 7.2. Risk Perception and Cancer Risk 310 7.3. Risk Factors 312 7.4. Risk Modeling 318 7.5. Genetics Criteria 330 7.6. Case Examples 333 7.7. Discussion Questions 334 7.8. Further Reading 335 Chapter 8: Genetic Testing Technologies 337 8.1. Older Technologies 338 8.2. Newer Technologies 348 8.3. Clinical Issues 357 8.4. Case Examples 363 8.5. Discussion Questions 365 8.6. Further Reading 366 Chapter 9: Pre-And Post-Test Genetic Counseling 369 9.1. Traditional Pre-Test Genetic Counseling Session 371 9.2. Pre-Test Strategies for Genetic Counselors 384 9.3. Other Pre-Test Genetic Counseling Considerations 387 9.4. Alternative Service Delivery Models for Pre-Test Education 388 9.5. Traditional Post-Test Genetic Counseling 390 9.6. Post-Test Genetic Counseling When the Genetic Counselor Was Not Involved in Pre-Test Education 396 9.7. Possible Patient Reactions to Results 397 9.8. Follow-Up Genetic Counseling 399 9.9. Psychological Assessment Throughout the Genetic Testing Process (see also Chapter 11) 401 9.10. Summary and Future Directions 403 9.11. Case Examples 404 9.12. Discussion Questions 405 9.13. Further Reading 406 Chapter 10: Special Populations And Special Situations 409 10.1. Counseling for Special Populations 409 10.2. Counseling About Unanticipated Results 417 10.3. Case Examples 421 10.4. Discussion Questions 425 10.5. Further Reading 425 Chapter 11: Psychosocial Aspects Of Cancer Genetic Counseling 429 11.1. Contextual Information About Patients 430 11.2. Patient Reactions Coping Responses and Risk Perception 442 11.3. Strategies for Providing Psychosocial Counseling 446 11.4. Strategies for Effective Psychosocial Genetic Counseling 454 11.5. Providing Additional Emotional Support 461 11.6. Case Examples 468 11.7. Discussion Questions 473 11.8. Further Reading 473 Chapter 12: Ethical Issues In Cancer Genetic Counseling And Testing 475 12.1. Bioethical Principles and Framework 476 12.2. Putting Ethics into Practice 484 12.3. Types of Ethical Dilemmas in Cancer Genetic Counseling 492 12.4. Case Examples 501 12.5. Discussion Questions 504 12.6. Further Reading 504 Index 507