Counseling About Cancer: Strategies for Genetic Counseling

Cover
Title Page
Copyright Page
Contents
Foreword
Preface
Acknowledgments
Chapter 1 Cancer Diagnosis and Treatment
	1.1. The Diagnosis of Cancer
		1.1.1. Cancer Detection
		1.1.2. Making the Diagnosis of Cancer
		1.1.3. Cancer Terminology
		1.1.4. Primary Cancer or Recurrence
	1.2. Tumor Classification
		1.2.1. Benign Tumors
		1.2.2. Tumor Grading
		1.2.3. Staging
		1.2.4. Genetic Analysis of the Tumor
	1.3. Cancer Treatment
		1.3.1. Surgery
		1.3.2. Radiation Therapy
		1.3.3. Chemotherapy
		1.3.4. Targeted Therapy
		1.3.5. Stem Cell Transplantation
		1.3.6. Additional Cancer Therapies
	1.4. Risk Factors for Cancer
	1.5. Case Examples
		1.5.1. Case 1
		1.5.2. Case 2
	1.6. Discussion Questions
	1.7. Further Reading
Chapter 2: Gastrointestinal Cancer Syndromes
	2.1. Anatomy
		2.1.1. Mouth and Pharynx (Throat)
		2.1.2. Esophagus
		2.1.3. Stomach
		2.1.4. Small Intestine
		2.1.5. Pancreas
		2.1.6. Biliary Tract
		2.1.7. Colon and Rectum
	2.2. Colorectal Cancer
	2.3. Gastric (Stomach) Cancer
	2.4. Pancreatic Cancer
	2.5. Lynch Syndrome
		2.5.1. Background
		2.5.2. Mechanism
		2.5.3. Diagnostic Criteria
		2.5.4. Cancer Risks
		2.5.5. Other Clinical Features
		2.5.6. Syndrome Subtypes
		2.5.7. Genetic Testing
		2.5.8. Medical Management
	2.6. Familial Adenomatous Polyposis/Attenuated Familial Adenomatous Polyposis
		2.6.1. Background
		2.6.2. Mechanism
		2.6.3. Diagnostic Criteria
		2.6.4. Cancer Risks
		2.6.5. Other Clinical Features
		2.6.6. Syndrome Subtypes
		2.6.7. Genetic Testing
		2.6.8. Medical Management
	2.7. MUTYH-Associated Polyposis
		2.7.1. Background
		2.7.2. Mechanism
		2.7.3. Diagnostic Criteria
		2.7.4. Cancer Risks
		2.7.5. Other Clinical Features
		2.7.6. Syndrome Subtypes
		2.7.7. Genetic Testing
		2.7.8. Medical Management
	2.8. NTHL1 Tumor Syndrome
		2.8.1. Background
		2.8.2. Mechanism
		2.8.3. Diagnostic Criteria
		2.8.4. Cancer Risks
		2.8.5. Other Clinical Features
		2.8.6. Syndrome Subtypes
		2.8.7. Genetic Testing
		2.8.8. Medical Management
	2.9. Polymerase Proofreading-Associated Polyposis Syndrome
		2.9.1. Background
		2.9.2. Mechanism
		2.9.3. Diagnostic Criteria
		2.9.4. Cancer Risks
		2.9.5. Other Clinical Features
		2.9.6. Syndrome Subtypes
		2.9.7. Genetic Testing
		2.9.8. Medical Management
	2.10. Juvenile Polyposis Syndrome
		2.10.1. Background
		2.10.2. Mechanism
		2.10.3. Diagnostic Criteria
		2.10.4. Cancer Risks
		2.10.5. Other Clinical Features
		2.10.6. Syndrome Subtypes
		2.10.7. Genetic Testing
		2.10.8. Medical Management
	2.11. Peutz-Jeghers Syndrome
		2.11.1. Background
		2.11.2. Mechanism
		2.11.4. Cancer Risks
		2.11.5. Other Clinical Features
		2.11.6. Syndrome Subtypes
		2.11.7. Genetic Testing
		2.11.8. Medical Management
	2.12. PTEN Hamartoma Tumor Syndromes
		2.12.1. Background
		2.12.2. Mechanism
		2.12.3. Diagnostic Criteria
		2.12.4. Cancer Risks
		2.12.5. Other Clinical Features
		2.12.6. Syndrome Subtypes
		2.12.7. Genetic Testing
		2.12.8. Medical Management
	2.13. Hereditary Mixed Polyposis Syndrome
		2.13.1. Background
		2.13.2. Mechanism
		2.13.3. Diagnostic Criteria
		2.13.4. Cancer Risks
		2.13.5. Other Clinical Features
		2.13.6. Syndrome Subtypes
		2.13.7. Genetic Testing
		2.13.8. Medical Management
	2.14. Serrated Polyposis Syndrome
		2.14.1. Background
		2.14.2. Mechanism
		2.14.3. Diagnostic Criteria
		2.14.4. Cancer Risks
		2.14.5. Other Clinical Features
		2.14.6. Syndrome Subtypes
		2.14.7. Genetic Testing
		2.14.8. Medical Management
	2.15. Hereditary Diffuse Gastric Cancer Syndrome
		2.15.1. Background
		2.15.2. Mechanism
		2.15.3. Diagnostic Criteria
		2.15.4. Cancer Risks
		2.15.5. Other Clinical Features
		2.15.6. Syndrome Subtypes
		2.15.7. Genetic Testing
		2.15.8. Medical Management
	2.16. Familial Atypical Multiple Mole Melanoma Syndrome
		2.16.1. Background
		2.16.2. Mechanism
		2.16.3. Diagnostic Criteria
		2.16.4. Cancer Risks
		2.16.5. Other Clinical Features
		2.16.6. Syndrome Subtypes
		2.16.7. Genetic Testing
		2.16.8. Medical Management
	2.17. Hereditary Pancreatitis/Familial Pancreatitis
		2.17.1. Background
		2.17.2. Mechanism
		2.17.3. Diagnostic Criteria
		2.17.4. Other Clinical Features
		2.17.5. Cancer Risks
		2.17.6. Genetic Testing
		2.17.7. Syndrome Subtypes
		2.17.8. Medical Management
	2.18. Short Reviews
		2.18.1. Li-Fraumeni Syndrome
		2.18.2. Gastric Adenocarcinoma and Proximal Polyposis of the Stomach
		2.18.3. Familial Intestinal Gastric Cancer
		2.18.4. BRCA2-AssociatedGastric Cancer
		2.18.5. Pancreatic Neuroendocrine Tumor Syndromes
		2.18.6. Liver (hepato-)/Gallbladder (cholangio-) Cancer Syndromes
		2.18.7. Esophageal Cancer Syndromes
		2.18.8. Other Rare Noninherited Gastrointestinal Tract Syndromes
	2.19. Further Reading
Chapter 3 Breast and Gynecological Cancer Syndromes
	3.1. Anatomy
		3.1.1. The Breast
		3.1.2. The Gynecological System
	3.2. Overview of Counseling Issues
		3.2.1. Clinical Management Issues
		3.2.2. Timing of Testing
		3.2.3. Documentation of Exact Tumor Type
		3.2.4. Syndrome Overlap
	3.3. Selected Breast and Gynecologic Syndromes
		3.3.1. ATM Heterozygous Carriers
		3.3.2. Hereditary Breast and Ovarian Cancer Syndrome (HBOC)
		3.3.3. BRIP1 Heterozygous Carriers
		3.3.4. CHEK2 Pathogenic Variant Carriers
		3.3.5. Hereditary Diffuse Gastric Cancer (HDGC) (see also Section 2.15)
		3.3.6. Li-Fraumeni Syndrome (LFS) (see also Section 5.2.12)
		3.3.7. Lynch Syndrome (see also Section 2.5.2.)
		3.3.8. Neurofibromatosis (NF1) (see also Section 4.3.9)
		3.3.9. PALB2 Heterozygous Carriers
		3.3.10. Peutz-Jeghers Syndrome (PJS)
		3.3.11. PTEN Hamartoma Tumor Syndrome (PHTS) (Also Cowden Syndrome; Includes Bannayan–Riley–Ruvalcaba Syndrome and Proteus Syndrome)
		3.3.12. RAD51C Heterozygous Carriers
		3.3.13. RAD51D Pathogenic Variant Carriers
	3.4. Case Examples
		3.4.1. Case 1
		3.4.2. Case 2
	3.5. Discussion Questions
	3.6. Further Reading
Chapter 4 Rare Tumor Predisposition Syndromes
	4.1. Overview of Rare Tumor Syndromes
		4.1.1. The Syndrome Is Defined by Unusual and/or Uncommon Cancers
		4.1.2. The Presence of a Tumor in the Proband Is Sufficient to Consider the Syndrome
		4.1.3. Benign Tumors and Nontumor Findings are Often Prominent Features of the Syndrome
		4.1.4. Bilateral Tumors or Multiple Tumor Primaries Occur More Frequently
		4.1.5. Most Syndromes Are Autosomal Dominant with Incomplete Penetrance
	4.2. Overview of Counseling Issues with Rare Tumor Syndromes
		4.2.1. Documentation of the Exact Tumor Type Is Key
		4.2.2. Limited Published Data Available About the Syndrome
		4.2.3. Less Awareness About the Possible Genetic Link and About Testing
		4.2.4. No One Has Heard of the Syndrome That the Patient Has
		4.2.5. The Patient’s Family May Not Be Interested in Hearing About the Syndrome
	4.3. Clinical Features of Selected Rare Tumor Syndromes
		4.3.1. BAP1 Tumor Predisposition Syndrome (includes COMMON syndrome)
		4.3.2. Birt–Hogg–Dubé Syndrome
		4.3.3. Familial Atypical Multiple Mole Melanoma Syndrome (includes Nevus Syndrome, and Melanoma–Astrocytoma Syndrome)
	4.4. Case Examples
		4.4.1. Case 1: Counseling About Melanoma and Mesothelioma
		4.4.2. Case 2: Counseling About Small Cell Lung Cancer
	4.5. Discussion Questions
	4.6. Further Reading
Chapter 5 Pediatric Tumor Predisposition Syndromes
	5.1. Counseling Issues
		5.1.1. There Is Often More Than One “Patient” in the Room
		5.1.2. The Family Is Often in a State of Acute Crisis
		5.1.3. Obtaining Assent and Consent for Testing
		5.1.4. Cases May Be More Complicated Than Adult Cases
		5.1.5. Issues May Be More Acutely Emotional
		5.1.6. The Pediatric Oncology Team Is More “Hands On”
		5.1.7. Complex Counseling Situations Frequently Arise
		5.1.8. Special Challenges with Potential Bone Marrow Transplant Patients
	5.2. Pediatric Tumor Predisposition Syndromes
		5.2.1. Ataxia Telangiectasia
		5.2.2. Autoimmune Lymphoproliferative Syndrome (Also Canale–Smith Syndrome)
		5.2.3. Beckwith-Wiedemann Syndrome (Also Beckwith-Wiedemann Spectrum (BWSp); Exomphalos Macroglossia Gigantism [EMG] Syndrome)
		5.2.4. Bloom Syndrome
		5.2.5. Constitutional Mismatch Repair Deficiency Syndrome
		5.2.6. Diamond-Blackfan Anemia
		5.2.7. DICER1 Tumor Predisposition Syndrome (DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome)
		5.2.8. Dyskeratosis Congenita (Also called Telomere Biology Disorders)
		5.2.9. Fanconi Anemia
		5.2.10. Juvenile Polyposis
		5.2.11. Leukemia Predisposition Syndromes
		5.2.12. Li-Fraumeni Syndrome
		5.2.13. Neuroblastoma, Familial
		5.2.14. Retinoblastoma, Hereditary
		5.2.15. Rhabdoid Tumor Predisposition Syndrome
		5.2.16. Rothmund-Thomson Syndrome (also called Poikiloderma congenitale)
		5.2.17. Shwachman-Diamond Syndrome
		5.2.18. Tuberous Sclerosis Complex (TSC)
		5.2.19. WT1-Related Syndrome (Includes Denys-Drash Syndrome, Frasier Syndrome, WAGR Syndrome)
		5.2.20. Xeroderma Pigmentosum (Includes XP/CS Complex, XP Variant)
	5.3. Case Examples
		5.3.1. Case 1: Counseling About an Eye Tumor
		5.3.2. Case 2: Counseling About a Pulmonary Lesion
	5.4. Discussion Questions
	5.5. Further Reading
Chapter 6 Cancer Family Histories (Collection and Interpretation)
	6.1. Collecting a Cancer History
		6.1.1. Inclusivity
		6.1.2. The Definition and Purpose of the Pedigree
		6.1.3. Key Elements of a Comprehensive Cancer History
		6.1.4. Additional Strategies and Helpful Hints
		6.1.5. Ways to Confirm Pedigrees
	6.2. Challenges to Collecting an Accurate History
		6.2.1. The Family History Information Is Incomplete
		6.2.2. The Family History Information Is Not Available
		6.2.3. The Reported History Is False
	6.3. Interpreting a Cancer History
		6.3.1. Features of Inherited Cancers
		6.3.2. Ways to Classify Family Histories of Cancer
		6.3.3. High, Moderate, Low, and Uncertain Risk Categories
	6.4. Case Examples
		6.4.1. Case 1
		6.4.2. Case 2
	6.5. Discussion Questions
	6.6. Further Reading
Chapter 7 Cancer Risk Assessment and Risk Models
	7.1. Risk Definitions
		7.1.1. Absolute Risk
		7.1.2. Relative Risk
		7.1.3. Odds Ratio
		7.1.4. Genetic Risk
		7.1.5. Empiric Risk
	7.2. Risk Perception and Cancer Risk
		7.2.1. Factors That Contribute to Risk Perception
		7.2.2. Changes in Risk Perception
	7.3. Risk Factors
		7.3.1. Exposures
		7.3.2. Benign Disease
		7.3.3. Nondisease Indicators of Risk
	7.4. Risk Modeling
		7.4.1. Risk of Developing Cancer (Cancer Risk)
		7.4.2. Risk of Hereditary Cancer (Gene Pathogenic Variant Risk)
		7.4.3. Models That Combine PV Risk and Penetrance Information
		7.4.4. Other Online Risk Assessment Tools and Calculators for Clinicians
		7.4.5. Patient-Friendly Risk Assessment Tools
	7.5. Genetics Criteria
		7.5.1. Clinical Genetic Testing Criteria
		7.5.2. Insurance-Specific Genetic Testing Criteria
		7.5.3. Criteria for Referral for Genetics Consultation
	7.6. Case Examples
		7.6.1. Case 1
		7.6.2. Case 2
	7.7. Discussion Questions
	7.8. Further Reading
Chapter 8 Genetic Testing Technologies
	8.1. Older Technologies
		8.1.1. Linkage
		8.1.2. Sanger and Maxam Gilbert Sequencing
		8.1.3. Southern Blotting
		8.1.4. Protein Truncation Testing
		8.1.5. Single-Strand Conformation Polymorphism
		8.1.6. Denaturing Gradient Gel Electrophoresis
		8.1.7. Single Nucleotide Polymorphism Technology
		8.1.8. Allele-Specific Oligonucleotides
	8.2. Newer Technologies
		8.2.1. Next-Generation Sequencing
		8.2.2. Multiplex Ligase Probe Amplification
		8.2.3. Array Technology
		8.2.4. Methylation Analysis
		8.2.5. Transcriptome Analysis
		8.2.6. Paired Tumor Germline Analysis
	8.3. Clinical Issues
		8.3.1. How to Assess the Quality of NGS Testing
		8.3.2. What Type of Test to Order in Varying Circumstances
		8.3.3. How to Handle Variant Classification, Reclassification, and Conflicting Interpretations
	8.4. Case Examples
		8.4.1. Case 1
		8.4.2. Case 2
	8.5. Discussion Questions
	8.6. Further Reading
Chapter 9 Pre- and Post-Test Genetic Counseling
	9.1. Traditional Pre-Test Genetic Counseling Session
		9.1.1. The Basis for Decision Making
		9.1.2. Obtaining Informed Consent
		9.1.3. Documentation of Informed Consent
		9.1.4. Discussion of Genetic Test Results Disclosure
	9.2. Pre-Test Strategies for Genetic Counselors
		9.2.1. Facilitating Decision Making
		9.2.2. Measuring Success in Informed Consent
	9.3. Other Pre-Test Genetic Counseling Considerations
		9.3.1. Confidentiality (Privacy, Data Security, and Placement of Results)
		9.3.2. Use of Samples for Research
		9.3.3. Whether the Genetic Health Care Professional Is Employed by the Testing Company
	9.4. Alternative Service Delivery Models for Pre-Test Education
		9.4.1. Group Pre-Test Counseling
		9.4.2. Decision Aids
		9.4.3. Chatbots
	9.5. Traditional Post-Test Genetic Counseling
		9.5.1. Mode of Results Disclosure
		9.5.2. Content of Disclosure Session
		9.5.3. Disclosure Session Genetic Counseling Strategies
	9.6. Post-Test Genetic Counseling When the Genetic Counselor Was Not Involved in Pre-Test Education
		9.6.1. Contracting
		9.6.2. Establish Knowledge Base
	9.7. Possible Patient Reactions to Results
		9.7.1. Immediate Reactions to Results
		9.7.2. Patients Presenting to Genetic Counseling Session after Already Having Results
	9.8. Follow-Up Genetic Counseling
		9.8.1. Adjustment to the Result
		9.8.2. Review of Genetics
		9.8.3. Cascade Testing
		9.8.4. Life Changes
		9.8.5. Updating Personal and Family History Information
		9.8.6. Keeping Current
	9.9. Psychological Assessment Throughout the Genetic Testing Process (see also Chapter 11)
		9.9.1. Assessing Psychological Readiness for Genetic Testing
		9.9.2. Recognizing Psychologically At-Risk Patients
	9.10. Summary and Future Directions
	9.11. Case Examples
		9.11.1. Case 1
		9.11.2. Case 2
	9.12. Discussion Questions
	9.13. Further Reading
Chapter 10 Special Populations and Special Situations
	10.1. Counseling for Special Populations
		10.1.1. Patients at End of Life
		10.1.2. Patients with Mental Health Challenges
		10.1.3. Patients with Intellectual Disability
		10.1.4. Patients Whose Primary Language Is Not That of the Genetic Counselor
		10.1.5. Transgender and Gender Diverse People
	10.2. Counseling About Unanticipated Results
		10.2.1. Unexpected High-Penetrance Pathogenic Variants
		10.2.2. Addressing Unknown Cancer Risk
		10.2.3. Initial Encounter as Post-Test Counseling
	10.3. Case Examples
		10.3.1. Case 1
		10.3.2. Case 2
	10.4. Discussion Questions
	10.5. Further Reading
Chapter 11 Psychosocial Aspects of Cancer Genetic Counseling
	11.1. Contextual Information About Patients
		11.1.1. Physical Health/Cancer Status
		11.1.2. Mental Health Status
		11.1.3. Family Context
		11.1.4. Ethnocultural/Social Context
	11.2. Patient Reactions, Coping Responses, and Risk Perception
		11.2.1. Possible Emotional Reactions During the Counseling Session
		11.2.2. Possible Coping Strategies
	11.3. Strategies for Providing Psychosocial Counseling
		11.3.1. Current Emotional Well-Being
		11.3.2. Baseline Mental Health Issues
		11.3.3. Emotional Reactions and Coping Strategies
		11.3.4. Timing Issues and Major Life Transitions and Timing Issues
		11.3.5. Family Communication
		11.3.6. Level of Family Support and Communication (Using the CEGRM Tool)
	11.4. Strategies for Effective Psychosocial Genetic Counseling
		11.4.1. Convey Empathy
		11.4.2. Stay Attuned to Verbal and Nonverbal Cues
		11.4.3. Employ Active Listening
		11.4.4. Ask Rather Than Assume
		11.4.5. Ascertain the Rationale Behind Questions and Reactions
		11.4.6. Allow Patients to Express Emotions
		11.4.7. Respect Patient Boundaries
		11.4.8. Monitor Patient Reactions
		11.4.9. Have Strategies to Deal with Resistant Patients
		11.4.10. Remain Professional
		11.4.11. Help Patient with Decisions and Next Action Steps
	11.5. Providing Additional Emotional Support
		11.5.1. Making a Mental Health Referral
		11.5.2. Cancer Syndrome Support Groups
		11.5.3. Compassion Satisfaction and Compassion Fatigue
	11.6. Case Examples
		11.6.1. Case #1: Counseling About Reactions to a Positive CDH1 Result
		11.6.2. Case #2: Counseling About Reactions to a Positive TP53 Result
	11.7. Discussion Questions
	11.8. Further Reading
Chapter 12 Ethical Issues in Cancer Genetic Counseling and Testing
	12.1. Bioethical Principles and Framework
		12.1.1. Introduction to Ethics
		12.1.2. Principle-Based Bioethics
		12.1.3. Virtue Ethics
		12.1.4. Ethics of Caring
	12.2. Putting Ethics into Practice
		12.2.1. Standards of Conduct for Genetic Counselors
		12.2.2. Strategies for Being an Ethical Counselor
		12.2.3. The Four-Box Method
		12.2.4. Additional Suggestions for Resolving Ethical Dilemmas
	12.3. Types of Ethical Dilemmas in Cancer Genetic Counseling
		12.3.1. Competing Rights and Roles
		12.3.2. Confidentiality and Privacy
		12.3.3. Conflict of Interest
		12.3.4. Consent and Patient Autonomy
		12.3.5. Duty to Recontact
		12.3.6. Duty to Warn
		12.3.7. Inequality and Access
		12.3.8. Prenatal/Preimplantation Genetic Testing
		12.3.9. Testing Children
		12.3.10. Unintended Results
	12.4. Case Examples
		12.4.1. Case 1: The medical provider’s need to know the patient’s TP53 status versus the patient’s right to decline testing
		12.4.2. Case 2: A positive RET research result: The researcher’s duty to warn versus the study participant’s right to decline results
	12.5. Discussion Questions
	12.6. Further Reading
Index
EULA