List of Contributors xi
Preface xv
Acknowledgment xvii
1 The Practice and Profession of Genetic Counseling 1
Robert G. Resta
Genetic Counseling— A Clinical Activity and a Profession 1
Defining Genetic Counseling 2
Historical Overview of Genetic Counseling 5
The Genetic Counseling Profession 8
Other Providers of Genetic Counseling 15
Philosophy and Ethos of Genetic Counseling 16
The Practice of Genetic Counseling 22
The Many Roles of Genetic Counselors 27
Professional Growth and Skill Acquisition 31
Concluding Remarks 32
Appendix 1 33
Appendix 2 35
References 38
2 Building a Working Alliance Through Culturally Conscious Interviewing 43
Gayun Chan-Smutko
Introduction 43
Building and Maintaining a Working Alliance: Key Attributes 44
Creating a Welcoming and Affirming Environment 52
Developing Mutual Goals of a Session 57
Promoting Shared Understanding Through Inquiry: Specific Interviewing Techniques 63
Growing Your Clinical Interviewing Process 71
Concluding Guidance 78
Acknowledgements 79
Resources 79
References 80
3 Family History: An Essential Tool 85
Jane L. Schuette and Diane R. Koeller
Introduction 85
The Evolution of the Pedigree 86
Family History Basics 89
Gathering the Information and Constructing a Pedigree 92
Interpreting the Family History and Pedigree Analysis 109
Psychosocial Aspects of Obtaining a Family History 115
Summary 117
References 117
4 Understanding the Counseling in Genetic Counseling Practice 123
Luba Djurdjinovic
Introduction 123
Psychological Framework of Our Practice 125
Theories that Support Psychological-Based Discussions 130
Appreciating Dynamics that can Enhance and/or Disrupt a Session 132
Discussing Difficult Issues and Giving Bad News 135
Coping Styles 140
Supervision: An Opportunity to Further Explore and Understand Ourselves and Self-Care 141
Conclusion 142
References 142
5 Patient-Centered Communication and Providing Information in Genetic Counseling 147
Jehannine (J9) Austin
Introduction 147
What is Patient-Centered Communication? 149
Deciding What Information to Provide in the Context of Patient-Centered Genetic Counseling 151
Principles of Providing Patient-Centered Information 152
The process of Providing Information in Patient-Centered Genetic Counseling 157
The Process of Developing Patient-Centered Communication Skills 167
Summary 171
References 171
6 Evaluating and Using Genetic Testing 175
Natasha Strande and Karen E. Wain
Introduction 175
Clinical Genetic Testing 176
Testing Methodologies 179
Test Parameters 184
Genetic Test Quality and Development 189
Genomic Variant Interpretation 196
Putting It into Practice 206
Conclusion 215
References 215
7 The Medical Genetics Evaluation 221
Shane C. Quinonez
Components of the Medical Genetics Evaluation 222
Physical Examination 229
Tools Utilized in a Medical Genetics Evaluation 233
Future Care Consideration following a Genetic Diagnosis 234
Patient Follow-up When a Diagnosis is not Established 235
Summary 236
References 236
8 Thinking It all Through: Case Preparation and Management 239
Lauren E. Hipp and Wendy R. Uhlmann
Introduction 239
Case Preparation 240
Performing a Risk Assessment 248
Contracting: Turning Case Preparation into Reality 252
Logistical Components of Case Management 254
Case Documentation 259
Case Follow-up and Care Coordination 263
Summary 266
References 270
9 Inclusion, Inclusivity, and Inclusiveness in Genetic Counseling: On Being an Authentic and Collaborative Community of Providers 271
Annie K. Bao, Deanna R. Darnes, and Liann H. Jimmons
Introduction 272
Authors’ Positionality 273
Phases of Inclusion: Principles for Practice 278
Context: Genetic Counseling Community Stories and Narratives 289
Reflective Exercises 309
Conclusion 310
Acknowledgements: Contributors and Allies 311
References 312
10 Health Disparities and Opportunities for Equity in Genetic Counseling 319
Nadine Channaoui, Altovise T. Ewing-Crawford, Barbara W. Harrison, and Vivian Y. Pan
Introduction 319
Equality, Equity, and Justice 320
A Patient’s Lived Journey: Centering the Experiences of Patients from Marginalized Communities 323
Pre-Appointment 328
Appointment Day 332
Post-Appointment 336
Epilogue 338
A Public Health Approach to Genetic Counseling 340
Summary 344
Key Definitions 347
References 348
11 Genetic Counselors in the Healthcare Ecosystem: Navigating Policies, Payment and Professional Advocacy 355
Gillian W. Hooker and Katie Lang
Introduction 355
Health Care Ecosystems Around the World 356
The US Health Care Ecosystem 356
Federal Policies 359
Health and Human Services 362
Private Payers 364
The Integration of Genetic Counselors into the Health Care Ecosystem 368
Genetic Counselor Certification, Licensure, and Credentialing 368
Coding and Billing for Genetics Services in the US 376
Clinical Practice Challenges 378
Genetic Counseling Service Delivery Models 379
Improving Access to Services 379
New Service Delivery Models 381
Arguing the Business Case for Genetic Counseling 383
Conclusions 386
References 386
12 Ethical Genetic Counseling Practice 391
Curtis R. Coughlin II and Kelly E. Ormond
Introduction 391
Morality, Ethics, and the Law: Some Definitions 394
Ethical Foundations 398
Ethical Analysis 403
Informed Consent as a Foundational Concept in Genetic Counseling 405
Clinical Examples of Ethical Issues in Genetic Counseling 409
Resources for Ethical Dilemmas 416
Research Ethics 418
Conclusions 419
References 419
13 Genetic Counseling Research: Understanding the Basics 427
Sarah Scollon and Beverly M. Yashar
Why Do Research? 428
What Makes Scientific Knowledge Different? 430
The Research Process 432
Data Collection and Analysis 454
The Human Side of the Equation: Ethical Research 458
Sharing Your Research with Others 461
Seeing it Through to the End 462
Research as a Career: Thinking Beyond Graduate School 463
Conclusion 464
References 465
14 Clinical Supervision: Strategies for Receiving and Providing Direction, Guidance, and Support 469
Monica Marvin
Introduction 469
Defining Clinical Supervision and Its Goals 470
Setting the Stage for Growth and Learning: Guidance for Students 471
Transitioning from Student to Supervisor 479
Establishing a Working Alliance with Students 481
Providing Ongoing Feedback and Support for Students 486
Other Responsibilities of Supervisors 490
Additional Considerations in Supervision 492
Clinical Supervision Agreements 495
Working with Graduate Programs 495
Concluding Thoughts 499
Acknowledgement 499
References 499
15 Professional Identities, Evolving Roles, Expanding Opportunities 503
Erica Ramos
Introduction 503
The Benefits and Challenges of Professional Identity, Conduct, and Professionalism 504
Professional Development, Fulfilment, and Advancement 511
Managing Professional Challenges 526
Looking to the Future 534
Acknowledgements 535
References 535
16 Examining Our Work through Case Presentations 541
Richard Dineen, Logan B. Karns, Matthew J. Thomas, and Barry S. Tong
Introduction 541
The Things We Don’t See: Prenatal Genetic Counseling (Logan B. Karns) 542
Case Example (GANAB PKD): Addressing Multiple Evolving Genetic Counseling Issues in a Pediatric Polycystic Kidney Disease Case (Rich Dineen) 562
Cardiovascular Genetic Counseling: Supporting a Family Following a Sudden Unexplained Death (Matthew J. Thomas) 572
Supporting Patients’ Decisions in a Cancer Setting: Family Matters (Barry S. Tong) 590
References 605
Index 609
