A Guide to Genetic Counseling

Description

The first book devoted exclusively to the principles and practice of genetic counseling―now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion―in addition to addressing global professional issues―with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions. A Guide to Genetic Counseling Contents Foreword Preface Contributors 1 The Practice of Genetic Counseling The Practice of Genetic Counseling Definition and Goals of Genetic Counseling Components of the Genetic Counseling Interaction Counseling Contexts and Situations Providers of Genetic Counseling Professional and Educational Landmarks in Genetic Counseling Professional Growth and Skill Acquisition Appendix: Practice-Based Competencies Genetic Counselors’ Scope of Practice References 2 The Ultimate Genetic Tool: The Family History The Evolution of the Pedigree Family History Basics Gathering the Information and Constructing a Pedigree Interpreting the Family History and Pedigree Analysis Psychosocial Aspects of Obtaining a Family History Summary References 3 Interviewing: Beginning to See Each Other Getting Started Breaking the Ice Setting the Stage: Core Qualities Creating a Working Agreement Verbal and Nonverbal Communication Specific Interviewing Techniques Obtaining Pedigrees Assessment Summary Acknowledgments References 4 Thinking It All Through: Case Preparation and Management Introduction The Initial Intake Billing Issues for Genetics Clinic Visits Preparing a Case Finding Information on Genetic Conditions Practice Guidelines Finding Support/Advocacy Groups and Patient Resources Performing a Risk Assessment Locating and Developing Counseling Aids Genetic Testing Managing the Clinic Visit Referrals to Other Specialists Referrals of Family Members to Genetics Clinics Case Documentation Is a Genetics Case Ever Complete? Conclusions References 5 Psychosocial Counseling Introduction Psychosocial Assessment and the Structure of a Session The Patient’s Story Achieving Dynamic Psychological Engagement: The Working Alliance Disruptions in the Working Alliance Discussing Difficult Issues and Giving Bad News Reactions and Psychologically Challenging Experiences Counselees’ Coping Styles Theories that Surround Our Work Men in Our Practice Supervision: Refining the Psychological Lens Conclusion References 6 Patient Education Sharing Expertise Adult Learners Models of Adult Learning Genetic Counseling in the Information Age The Genetic Counseling Session—A Vehicle for Patient Education Additional Aspects of Patient Learning Application of Instructional Aids for Patient Education Tenets of Health Education and Promotion: Application to Genetic Counseling Future Directions Summary References 7 Risk Communication and Decision-Making Factors Impacting Risk Communication Models of Risk Communication Practical Aspects of Communicating Risk The Family and Risk Communication Factors Impacting Decision-Making Models of Decision-Making Practical Aspects of Decision-Making Nondirectiveness Use of Aids Cultural Tailoring Summary References 8 The Medical Genetics Evaluation Introduction The Components of a Medical Genetics Evaluation Diagnostic Studies Tools and Resources of the Clinical Geneticist Utility of Clinical Case Conferences and Outside Expert Consultants Summary References 9 Understanding Genetic Testing Introduction Defining Genetic Testing Test Parameters Reasons for False Positives and False Negatives Complexities of Negative Test Results Variants of Unknown Significance The "Ideal Genetic Test" Ensuring Quality Clinical Genetic Testing Development of a New Clinical Genetic Test Global Testing Issues and Establishing Policy and Practice Guidelines Complexities of New Technologies in the Genetic Counseling Session: Illustrative Cases Conclusions References 10 Medical Documentation The Importance of Medical Documentation When Should Medical Documentation Occur? Who Records in the Chart? Types of Medical Documentation Recommendations for Medical Documentation Disclosure of Information Contained in Medical Records Medical Documentation for Billing and Reimbursement Documentation That is Subject to External Review Retention of Medical Records Summary Appendix: Patient Letter Outline References 11 Multicultural Counseling The Challenge Multicultural Competency Diversity is Cultural, Not Biophysical The Religion Factor American Values Compared Four Basic Core Values Pregnancy, Birth, and Family Beliefs About the Causes of Disease and Disorders Communicating Across Cultural Boundaries Conclusion Appendix: Responses to Critical Incidents References Further Reading 12 Ethical and Legal Issues Ethical Issues NSGC Code of Ethics Legal Issues Areas of Practice Raising Ethical and Legal Questions Conclusions Reading List 13 Student Supervision: Strategies for Providing Direction, Guidance, and Support Introduction Definitions of Supervision Genetic Counselors as Clinical Supervisors: Responsibilities Supervision Goals and Discussion Topics Supervisor and Student Roles Student Responsibilities Supervision Methods Methods for Assessing Student Skills Supervisee and Supervisor Characteristics Common Supervision Challenges Supervision Agreements for Clinical Supervision Conclusions Appendix: Example Clinical Supervision Agreement for the Genetic Counseling Setting References 14 Genetic Counseling Research: Understanding the Basics Why Do Research? Defining Research: A Way of Thinking What Makes Scientific Knowledge Different? Choosing an Experimental Approach The Research Process Data Collection and Analysis Presentation: Pulling It all Together The Human Side of the Equation–Ethical Research Seeing It Through to the End Conclusion References 15 Professional Identity and Development Introduction The Genetic Counseling Profession and Role Expansion Professional Identity Professional Conduct Certification and Licensure of Genetic Counselors Lifelong Learning Practices Professional Opportunities in One’s Own Institution Participation in Professional Organizations Involvement in Policy-Making A Final Thought on Professional Development Acknowledgments Appendix: Clinical Genetics Professional Societies References 16 Genetic Counselors as Educators Introduction Education for Healthcare Professionals Examples of Training and Continuing Education of Healthcare Professionals Education for the Lay Public Science Education Standards Education for Students and Science Teachers Education for Older Students (High School, College, and Adults) Education for Young Students (Elementary to Middle School) Teaching about Ethics and Public Policy Effective Presentations: How to Prepare Tips for Speaking with the Media Developing Education Materials Conclusion References Resources 17 Evolving Roles, Expanding Opportunities Introduction Evolution of the Profession Expansion of the Profession Development of Clinical Specialty Areas in Genetic Counseling Translatable Skills Role Expansion: From the Traditional Genetics Clinic Setting and Beyond Acquiring New Skills and Knowledge Positioning Oneself for a New Role Looking Ahead: Visioning Conclusion Appendix: Tools for Working Outside the Box: What Genetic Counselors can Bring to a Non-Traditional Role References 18 Putting It All Together: Three Case Examples Introduction (Jane L. Schuette) Pediatric Case (Cheryl Shuman) Reproductive Genetics Case (Donna F. Blumenthal) Cancer Genetics Case (Monica, L. Marvin) References Index