A Guide to Genetic Counseling

Vivian Y. Pan, MS, CGC is a practicing genetic counselor with a background spanning cancer genetics, prenatal genetics, pediatric genetics, cardiovascular genetics, and general adult genetics. Vivian has led telehealth and precision medicine initiatives across various healthcare settings for over ten years, focusing on equitable patient access to genomic medicine. Actively engaged in the genetic counseling community, Vivian holds leadership positions within the National Society for Genetic Counselors and the American Board of Genetic Counseling. Her research focuses on innovations in genetic counseling. Jane L. Schuette, MS, CGC served as a genetic counselor and clinical coordinator for 35 years, initially at Mount Sinai Medical Center and then at the University of Michigan Health System where, in addition to working with patients and their families, she participated in the training of numerous genetic counseling students, interns, and residents. She served on the Genetics Advisory Committee for the Michigan Department of Health for 10 years and was chair of the NSGC Pediatric Special Interest Group. Presently Jane is a clinical genomics variant science team lead at Variantyx, Inc., focusing on whole genome sequencing for the pediatric and prenatal populations. Karen E. Wain, MS, CGC has worked in several clinically oriented settings and in a variety of roles, including as a laboratory genetic counselor, a clinical genetic counselor, a researcher, and a leader. She has been an active contributor to the National Society of Genetic Counselors, early genomic data-sharing efforts, and education around variant interpretation. Beverly M. Yashar, MS, PhD, CGC served as the program director for the genetic counseling graduate training program at the University of Michigan from 2002-2023. Her contributions to education have been recognized by the Michigan academic community with the conferral of the Rackham Master’s Mentoring award, the Kaiser Permanente award for academic excellence in medical school teaching, and nomination to Michigan’s League of Education Excellence. In addition, she has held leadership roles within the National Society of Genetic Counselors, American Board of Genetic Counseling, Genetic Counseling Education Association and the Michigan Association of Genetic Counselors.

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