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 1Robert 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 43Gayun 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 85Jane 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 123Luba 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 147Jehannine (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 175Natasha 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 221Shane 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 239Lauren 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 271Annie 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 319Nadine 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 355Gillian 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 391Curtis 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 427Sarah 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 469Monica 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 503Erica 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 541Richard 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