A Guide to Genetic Counseling

Wendy R. Uhlmann, MS, CGC is the genetic counselor/clinic coordinator of the Medical Genetics Clinic at the University of Michigan. She is a Clinical Instructor in the Department of Human Genetics and an executive faculty member of the genetic counseling training program. Jane L. Schuette, MS, CGC has been a genetic counselor for 26 years ansd is currently genetic counselor and clinic coordinator in the Division of Pediatric Genetics at the University of Michigan Health System. Beverly M. Yashar, MS, PhD, CGC is the program director for the genetic counseling graduate training program in the Department of Human Genetics at the University of Michigan.

Foreword xv

Preface xvii

Contributors xix

1 The Practice of Genetic Counseling 1
Ann P. Walker

The Practice of Genetic Counseling 1

Definition and Goals of Genetic Counseling 5

Components of the Genetic Counseling Interaction 11

Counseling Contexts and Situations 14

Providers of Genetic Counseling 16

Professional and Educational Landmarks in Genetic Counseling 19

Professional Growth and Skill Acquisition 25

Appendix: Practice-Based Competencies 26

Genetic Counselors’ Scope of Practice 30

References 32

2 The Ultimate Genetic Tool: The Family History 37
Jane L. Schuette and Robin L. Bennett

The Evolution of the Pedigree 38

Family History Basics 40

Gathering the Information and Constructing a Pedigree 43

Interpreting the Family History and Pedigree Analysis 57

Psychosocial Aspects of Obtaining a Family History 63

Summary 64

References 65

3 Interviewing: Beginning to See Each Other 71
Kathryn Spitzer Kim

Getting Started 71

Breaking the Ice 72

Setting the Stage: Core Qualities 73

Creating a Working Agreement 76

Verbal and Nonverbal Communication 80

Specific Interviewing Techniques 83

Obtaining Pedigrees 88

Assessment 89

Summary 90

Acknowledgments 90

References 90

4 Thinking It All Through: Case Preparation and Management 93
Wendy R. Uhlmann

Introduction 93

The Initial Intake 95

Billing Issues for Genetics Clinic Visits 96

Preparing a Case 97

Finding Information on Genetic Conditions 102

Practice Guidelines 103

Finding SupportAdvocacy Groups and Patient Resources 104

Performing a Risk Assessment 106

Locating and Developing Counseling Aids 112

Genetic Testing 113

Managing the Clinic Visit 125

Referrals to Other Specialists 128

Referrals of Family Members to Genetics Clinics 128

Case Documentation 129

Is a Genetics Case Ever Complete?  129

Conclusions 129

References 130

5 Psychosocial Counseling 133
Luba Djurdjinovic

Introduction 133

Psychosocial Assessment and the Structure of a Session 135

The Patient’s Story 136

Achieving Dynamic Psychological Engagement: The Working Alliance 137

Disruptions in the Working Alliance 144

Discussing Difficult Issues and Giving Bad News 148

Reactions and Psychologically Challenging Experiences 151

Counselees’ Coping Styles 154

Theories that Surround Our Work 155

Men in Our Practice 165

Supervision: Refining the Psychological Lens 166

Conclusion 167

References 168

6 Patient Education 177
Ann C.M. Smith and Toni I. Pollin

Sharing Expertise 178

Adult Learners 179

Models of Adult Learning 180

Genetic Counseling in the Information Age 181

The Genetic Counseling Session----A Vehicle for Patient Education 182

Additional Aspects of Patient Learning 188

Application of Instructional Aids for Patient Education 193

Tenets of Health Education and Promotion: Application to Genetic Counseling 196

Future Directions 200

Summary 201

References 201

7 Risk Communication and Decision-Making 207
Bonnie Jeanne Baty

Factors Impacting Risk Communication 208

Models of Risk Communication 213

Practical Aspects of Communicating Risk 213

The Family and Risk Communication 219

Factors Impacting Decision-Making 225

Models of Decision-Making 228

Practical Aspects of Decision-Making 233

Nondirectiveness 235

Use of Aids 236

Cultural Tailoring 238

Summary 240

References 243

8 The Medical Genetics Evaluation 251
Elizabeth M. Petty

Introduction 251

The Components of a Medical Genetics Evaluation 258

Diagnostic Studies 277

Tools and Resources of the Clinical Geneticist 278

Utility of Clinical Case Conferences and Outside Expert Consultants 279

Summary 280

References 281

9 Understanding Genetic Testing 283
W. Andrew Faucett and Patricia A. Ward

Introduction 283

Defining Genetic Testing 284

Test Parameters 285

Reasons for False Positives and False Negatives 289

Complexities of Negative Test Results 290

Variants of Unknown Significance 291

The ‘‘Ideal Genetic Test’’ 291

Ensuring Quality Clinical Genetic Testing 292

Development of a New Clinical Genetic Test 295

Global Testing Issues and Establishing Policy and Practice Guidelines 299

Complexities of New Technologies in the Genetic Counseling Session: Illustrative Cases 302

Conclusions 307

References 308

10 Medical Documentation 313
Debra Lochner Doyle

The Importance of Medical Documentation 314

When Should Medical Documentation Occur?  315

Who Records in the Chart?  316

Types of Medical Documentation 316

Recommendations for Medical Documentation 318

Disclosure of Information Contained in Medical Records 321

Medical Documentation for Billing and Reimbursement 322

Documentation That is Subject to External Review 323

Retention of Medical Records 324

Summar  325

Appendix: Patient Letter Outline 326

References 327

11 Multicultural Counseling 331
Gottfried Oosterwal

The Challenge 332

Multicultural Competency 333

Diversity is Cultural, Not Biophysical 333

The Religion Factor 335

American Values Compared 336

Four Basic Core Values 337

Pregnancy, Birth, and Family 344

Beliefs About the Causes of Disease and Disorders 349

Communicating Across Cultural Boundaries 351

Conclusion 357

Appendix: Responses to Critical Incidents 358

References 359

Further Reading 360

12 Ethical and Legal Issues 363
Susan Schmerler

Ethical Issues 364

NSGC Code of Ethics 372

Legal Issues 380

Areas of Practice Raising Ethical and Legal Questions 388

Conclusions 396

Reading List 396

13 Student Supervision: Strategies for Providing Direction, Guidance, and Support 401
Patricia McCarthy Veach and Bonnie S. LeRoy

Introduction 401

Definitions of Supervision 402

Genetic Counselors as Clinical Supervisors: Responsibilities 403

Supervision Goals and Discussion Topics 404

Supervisor and Student Roles 408

Student Responsibilities 411

Supervision Methods 413

Methods for Assessing Student Skills 416

Supervisee and Supervisor Characteristics 422

Common Supervision Challenges 425

Supervision Agreements for Clinical Supervision 429

Conclusions 430

Appendix: Example Clinical Supervision Agreement for the Genetic Counseling Setting 430

References 433

14 Genetic Counseling Research: Understanding the Basics 435
Beverly M. Yashar

Why Do Research?  436

Defining Research: AWay of Thinking 438

What Makes Scientific Knowledge Different? 438

Choosing an Experimental Approach 439

The Research Process 441

Data Collection and Analysis 454

Presentation: Pulling It all Together 455

The Human Side of the Equation–Ethical Research 456

Seeing It Through to the End 458

Conclusion 459

References 459

15 Professional Identity and Development 461
Elizabeth A. Gettig and Karen Greendale

Introduction 461

The Genetic Counseling Profession and Role Expansion 462

Professional Identity 463

Professional Conduct 466

Certification and Licensure of Genetic Counselors 467

Lifelong Learning Practices 469

Professional Opportunities in One’s Own Institution 473

Participation in Professional Organizations 475

Involvement in Policy-Making 476

A Final Thought on Professional Development 476

Acknowledgments 477

Appendix: Clinical Genetics Professional Societies 477

References 481

16 Genetic Counselors as Educators 485
Debra L. Collins and Joseph D. McInerney

Introduction 485

Education for Healthcare Professionals 486

Examples of Training and Continuing Education of Healthcare Professionals 488

Education for the Lay Public 491

Science Education Standards 491

Education for Students and Science Teachers 494

Education for Older Students (High School, College, and Adults) 495

Education for Young Students (Elementary to Middle School) 497

Teaching about Ethics and Public Policy 499

Effective Presentations: How to Prepare 502

Tips for Speaking with the Media 508

Developing Education Materials 509

Conclusion 509

References 509

Resources 510

17 Evolving Roles, Expanding Opportunities 523
Elizabeth A. Balkite and Maureen E. Smith

Introduction 523

Evolution of the Profession 524

Expansion of the Profession 525

Development of Clinical Specialty Areas in Genetic Counseling 526

Translatable Skills 528

Role Expansion: From the Traditional Genetics Clinic Setting and Beyond 530

Acquiring New Skills and Knowledge 531

Positioning Oneself for a New Role 537

Looking Ahead: Visioning 544

Conclusion 547

Appendix: Tools for Working Outside the Box: What Genetic Counselors can Bring to a Non-Traditional Role 548

References 551

18 Putting It All Together: Three Case Examples 553
Jane L. Schuette, Donna F. Blumenthal, Monica L. Marvin, and Cheryl Shuman

Introduction (Jane L. Schuette) 553

Pediatric Case (Cheryl Shuman) 554

Reproductive Genetics Case (Donna F. Blumenthal) 567

Cancer Genetics Case (Monica, L. Marvin) 575

References 591

Index 597