Genetic Counseling

  1. The Genetic Counseling Process
    1. Session Structure and Framework
      1. Pre-Session Preparation
        1. Chart Review
          1. Test Result Review
            1. Resource Preparation
            2. Contracting and Agenda Setting
              1. Establishing Goals
                1. Setting Expectations
                  1. Time Management
                  2. Information Gathering Phase
                    1. Medical History
                      1. Family History
                        1. Psychosocial Assessment
                        2. Education and Information Sharing
                          1. Genetic Concepts
                            1. Risk Information
                              1. Testing Options
                              2. Psychosocial Support
                                1. Emotional Responses
                                  1. Coping Strategies
                                    1. Resource Provision
                                    2. Decision-Making Support
                                      1. Option Exploration
                                        1. Value Clarification
                                          1. Shared Decision-Making
                                          2. Session Closure
                                            1. Summary
                                              1. Next Steps
                                                1. Follow-up Planning
                                              2. Information Gathering and Assessment
                                                1. Medical History Collection
                                                  1. Personal Health History
                                                    1. Relevant Symptoms
                                                      1. Previous Testing
                                                        1. Medical Records Review
                                                        2. Reproductive History
                                                          1. Pregnancy History
                                                            1. Fertility Issues
                                                              1. Pregnancy Complications
                                                                1. Contraceptive History
                                                                2. Family History Collection
                                                                  1. Three-Generation Pedigree
                                                                    1. Pedigree Symbols
                                                                      1. Information Verification
                                                                        1. Missing Information
                                                                        2. Standardized Nomenclature
                                                                          1. Drawing Conventions
                                                                            1. Documentation Standards
                                                                          2. Pedigree Analysis
                                                                            1. Pattern Recognition
                                                                              1. Inheritance Patterns
                                                                                1. Red Flags
                                                                                2. Risk Assessment
                                                                                  1. Affected Individuals
                                                                                    1. Carrier Status
                                                                                  2. Psychosocial Assessment
                                                                                    1. Emotional State
                                                                                      1. Coping Mechanisms
                                                                                        1. Support Systems
                                                                                          1. Cultural Factors
                                                                                        2. Risk Assessment and Communication
                                                                                          1. Risk Calculation Methods
                                                                                            1. Mendelian Risk Assessment
                                                                                              1. Punnett Squares
                                                                                                1. Probability Rules
                                                                                                2. Bayesian Analysis
                                                                                                  1. Prior Probabilities
                                                                                                    1. Conditional Probabilities
                                                                                                      1. Posterior Probabilities
                                                                                                      2. Empiric Risk Data
                                                                                                        1. Population Studies
                                                                                                          1. Family Studies
                                                                                                        2. Risk Models and Tools
                                                                                                          1. Cancer Risk Models
                                                                                                            1. BRCAPRO
                                                                                                              1. Tyrer-Cuzick
                                                                                                                1. Claus Model
                                                                                                                2. Cardiovascular Risk Models
                                                                                                                  1. Pharmacogenomic Predictions
                                                                                                                  2. Risk Communication Strategies
                                                                                                                    1. Numerical Formats
                                                                                                                      1. Percentages
                                                                                                                        1. Fractions
                                                                                                                          1. Natural Frequencies
                                                                                                                          2. Visual Aids
                                                                                                                            1. Icon Arrays
                                                                                                                              1. Bar Charts
                                                                                                                                1. Risk Ladders
                                                                                                                                2. Analogies and Metaphors
                                                                                                                                  1. Everyday Comparisons
                                                                                                                                    1. Population Comparisons
                                                                                                                                  2. Addressing Risk Perception
                                                                                                                                    1. Cognitive Biases
                                                                                                                                      1. Availability Heuristic
                                                                                                                                        1. Anchoring Bias
                                                                                                                                        2. Emotional Factors
                                                                                                                                          1. Worry and Anxiety
                                                                                                                                            1. Optimism Bias
                                                                                                                                            2. Individual Differences
                                                                                                                                              1. Numeracy Skills
                                                                                                                                                1. Health Literacy
                                                                                                                                            3. Genetic Testing in Practice
                                                                                                                                              1. Pre-Test Counseling
                                                                                                                                                1. Testing Indications
                                                                                                                                                  1. Diagnostic Testing
                                                                                                                                                    1. Predictive Testing
                                                                                                                                                      1. Carrier Screening
                                                                                                                                                        1. Pharmacogenomic Testing
                                                                                                                                                        2. Test Selection
                                                                                                                                                          1. Single Gene Tests
                                                                                                                                                            1. Panel Testing
                                                                                                                                                              1. Genome-Wide Testing
                                                                                                                                                              2. Benefits and Limitations
                                                                                                                                                                1. Test Sensitivity
                                                                                                                                                                  1. Test Specificity
                                                                                                                                                                    1. Analytical Validity
                                                                                                                                                                    2. Possible Outcomes
                                                                                                                                                                      1. Positive Results
                                                                                                                                                                        1. Negative Results
                                                                                                                                                                          1. Variants of Uncertain Significance
                                                                                                                                                                            1. Incidental Findings
                                                                                                                                                                          2. Post-Test Counseling
                                                                                                                                                                            1. Result Disclosure
                                                                                                                                                                              1. Positive Results
                                                                                                                                                                                1. Negative Results
                                                                                                                                                                                  1. Uncertain Results
                                                                                                                                                                                  2. Result Interpretation
                                                                                                                                                                                    1. Clinical Significance
                                                                                                                                                                                      1. Limitations
                                                                                                                                                                                        1. Follow-up Needs
                                                                                                                                                                                        2. Psychological Impact
                                                                                                                                                                                          1. Emotional Responses
                                                                                                                                                                                            1. Coping Support
                                                                                                                                                                                            2. Family Implications
                                                                                                                                                                                              1. At-Risk Relatives
                                                                                                                                                                                                1. Disclosure Decisions
                                                                                                                                                                                            3. Medical Management and Follow-Up
                                                                                                                                                                                              1. Care Planning
                                                                                                                                                                                                1. Risk-Based Management
                                                                                                                                                                                                  1. Multidisciplinary Coordination
                                                                                                                                                                                                    1. Patient Preferences
                                                                                                                                                                                                    2. Surveillance Recommendations
                                                                                                                                                                                                      1. Screening Protocols
                                                                                                                                                                                                        1. Monitoring Guidelines
                                                                                                                                                                                                          1. Preventive Measures
                                                                                                                                                                                                          2. Referral Coordination
                                                                                                                                                                                                            1. Medical Specialists
                                                                                                                                                                                                              1. Support Services
                                                                                                                                                                                                                1. Community Resources
                                                                                                                                                                                                                2. Documentation and Communication
                                                                                                                                                                                                                  1. Summary Letters
                                                                                                                                                                                                                    1. Provider Communication
                                                                                                                                                                                                                      1. Medical Records
                                                                                                                                                                                                                        1. Insurance Considerations

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                                                                                                                                                                                                                    2. Core Scientific Principles for Genetic Counseling

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                                                                                                                                                                                                                    4. Clinical Specialties in Genetic Counseling