A Guide to Genetic Counseling

Chapter 1: The Practice and Profession of Genetic Counseling

• • Genetic Counseling— A Clinical Activity and a Profession
• • Defining Genetic Counseling
• • Historical Overview of Genetic Counseling
• • The Genetic Counseling Profession
• • Other Providers of Genetic Counseling
• • Philosophy and Ethos of Genetic Counseling
• • The Practice of Genetic Counseling
• • The Many Roles of Genetic Counselors
• • Professional Growth and Skill Acquisition
• • Concluding Remarks
• • Appendix 1
• • Appendix 2
• • References

Chapter 2: Building a Working Alliance Through Culturally Conscious Interviewing

• • Introduction
• • Building and Maintaining a Working Alliance: Key Attributes
• • Creating a Welcoming and Affirming Environment
• • Developing Mutual Goals of a Session
• • Promoting Shared Understanding Through Inquiry: Specific Interviewing Techniques
• • Growing Your Clinical Interviewing Process
• • Concluding Guidance
• • Acknowledgements
• • Resources
• • References

Chapter 3: Family History: An Essential Tool

• • Introduction
• • The Evolution of the Pedigree
• • Family History Basics
• • Gathering the Information and Constructing a Pedigree
• • Interpreting the Family History and Pedigree Analysis
• • Psychosocial Aspects of Obtaining a Family History
• • Summary
• • References

Chapter 4: Understanding the Counseling in Genetic Counseling Practice

• • Introduction
• • Psychological Framework of Our Practice
• • Theories that Support Psychological-Based Discussions
• • Appreciating Dynamics that can Enhance and/or Disrupt a Session
• • Discussing Difficult Issues and Giving Bad News
• • Coping Styles
• • Supervision: An Opportunity to Further Explore and Understand Ourselves and Self-Care
• • Conclusion
• • References

Chapter 5: Patient-Centered Communication and Providing Information in Genetic Counseling

• • Introduction
• • What is Patient-Centered Communication?
• • Deciding What Information to Provide in the Context of Patient-Centered Genetic Counseling
• • Principles of Providing Patient-Centered Information
• • The process of Providing Information in Patient-Centered Genetic Counseling
• • The Process of Developing Patient-Centered Communication Skills
• • Summary
• • References

Chapter 6: Evaluating and Using Genetic Testing

• • Introduction
• • Clinical Genetic Testing
• • Testing Methodologies
• • Test Parameters
• • Genetic Test Quality and Development
• • Genomic Variant Interpretation
• • Putting It into Practice
• • Conclusion
• • References

Chapter 7: The Medical Genetics Evaluation

• • Components of the Medical Genetics Evaluation
• • Physical Examination
• • Tools Utilized in a Medical Genetics Evaluation
• • Future Care Consideration following a Genetic Diagnosis
• • Patient Follow-up When a Diagnosis is not Established
• • Summary
• • References

Chapter 8: Thinking It all Through: Case Preparation and Management

• • Introduction
• • Case Preparation
• • Performing a Risk Assessment
• • Contracting: Turning Case Preparation into Reality
• • Logistical Components of Case Management
• • Case Documentation
• • Case Follow-up and Care Coordination
• • Summary
• • References

Chapter 9: Inclusion, Inclusivity, and Inclusiveness in Genetic Counseling: On Being an Authentic and Collaborative Community of Providers

• • Introduction
• • Authors’ Positionality
• • Phases of Inclusion: Principles for Practice
• • Context: Genetic Counseling Community Stories and Narratives
• • Reflective Exercises
• • Conclusion
• • Acknowledgements: Contributors and Allies
• • References

Chapter 10: Health Disparities and Opportunities for Equity in Genetic Counseling

• • Introduction
• • Equality, Equity, and Justice
• • A Patient’s Lived Journey: Centering the Experiences of Patients from Marginalized Communities
• • Pre-Appointment
• • Appointment Day
• • Post-Appointment
• • Epilogue
• • A Public Health Approach to Genetic Counseling
• • Summary
• • Key Definitions
• • References

Chapter 11: Genetic Counselors in the Healthcare Ecosystem: Navigating Policies, Payment and Professional Advocacy

• • Introduction
• • Health Care Ecosystems Around the World
• • The US Health Care Ecosystem
• • Federal Policies
• • Health and Human Services
• • Private Payers
• • The Integration of Genetic Counselors into the Health Care Ecosystem
• • Genetic Counselor Certification, Licensure, and Credentialing
• • Coding and Billing for Genetics Services in the US
• • Clinical Practice Challenges
• • Genetic Counseling Service Delivery Models
• • Improving Access to Services
• • New Service Delivery Models
• • Arguing the Business Case for Genetic Counseling
• • Conclusions
• • References

Chapter 12: Ethical Genetic Counseling Practice

• • Introduction
• • Morality, Ethics, and the Law: Some Definitions
• • Ethical Foundations
• • Ethical Analysis
• • Informed Consent as a Foundational Concept in Genetic Counseling
• • Clinical Examples of Ethical Issues in Genetic Counseling
• • Resources for Ethical Dilemmas
• • Research Ethics
• • Conclusions
• • References

Chapter 13: Genetic Counseling Research: Understanding the Basics

• • Why Do Research?
• • What Makes Scientific Knowledge Different?
• • The Research Process
• • Data Collection and Analysis
• • The Human Side of the Equation: Ethical Research
• • Sharing Your Research with Others
• • Seeing it Through to the End
• • Research as a Career: Thinking Beyond Graduate School
• • Conclusion
• • References

Chapter 14: Clinical Supervision: Strategies for Receiving and Providing Direction, Guidance, and Support

• • Introduction
• • Defining Clinical Supervision and Its Goals
• • Setting the Stage for Growth and Learning: Guidance for Students
• • Transitioning from Student to Supervisor
• • Establishing a Working Alliance with Students
• • Providing Ongoing Feedback and Support for Students
• • Other Responsibilities of Supervisors
• • Additional Considerations in Supervision
• • Clinical Supervision Agreements
• • Working with Graduate Programs
• • Concluding Thoughts
• • Acknowledgement
• • References

Chapter 15: Professional Identities, Evolving Roles, Expanding Opportunities

• • Introduction
• • The Benefits and Challenges of Professional Identity, Conduct, and Professionalism
• • Professional Development, Fulfilment, and Advancement
• • Managing Professional Challenges
• • Looking to the Future
• • Acknowledgements
• • References

Chapter 16: Examining Our Work through Case Presentations

• • Introduction
• • The Things We Don’t See: Prenatal Genetic Counseling (Logan B. Karns)
• • Case Example (GANAB PKD): Addressing Multiple Evolving Genetic Counseling Issues in a Pediatric Polycystic Kidney Disease Case (Rich Dineen)
• • Cardiovascular Genetic Counseling: Supporting a Family Following a Sudden Unexplained Death (Matthew J. Thomas)
• • Supporting Patients’ Decisions in a Cancer Setting: Family Matters (Barry S. Tong)
• • References