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A Guide to Genetic Counseling, Second Edition


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Table of Contents

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

About the Author

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.


"Revised and updated, this edition incorporates new chapters on research, the evolving clinical and non clinical roles of genetic counselors and developing areas for the profession, genetic counselors as educators, and risk communication and decision-making." (Book News, December 2009)

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