Genetic Counseling Practice

Advanced Concepts and Skills

Bonnie S. LeRoy, Patricia M. Veach, Nancy P. Callanan, Bonnie S. LeRoy, Patricia M. Veach, Nancy P. Callanan

• Publisher: Wiley-Blackwell
• Year: 2020
• ISBN:
  9781119529866
• Edition: 2
• Topic: Médecine
• Subtopic: Oncologie

The second edition of Genetic Counseling Practice: Advanced Concepts and Skills, provides in-depth content regarding the advanced competencies for meeting patient needs across the changing landscape of genetic counseling practice. The content aligns with the Reciprocal Engagement Model (REM) of practice which integrates the biomedical knowledge and psychosocial aspects of genetic counseling.

This edition has been revised and expanded to reflect advances made in the present-day field. Edited by a team two genetic counselors and a psychologist, the chapters offer a holistic picture of genetic counseling. Chapter authors are all recognized experts in the profession. The chapters are grounded in evidence-based practice and research. Each chapter includes learning activities to help readers apply concepts and skills. Featured topic areas include:

• Meeting the needs of culturally diverse patients
• Addressing challenging patient dynamics
• Working with children, adolescents and families
• Using emerging service delivery models for genetic counseling
• Engaging in self-reflective, deliberate practice
• Promoting genetic counselor professional development

Genetic Counseling Practice is an indispensable guide to the complex and evolving field of genetic counseling, and this updated second edition will help practitioners and trainees alike navigate its most pressing and practical challenges with skill and care.

1
Introduction

Bonnie S. LeRoy¹, Patricia McCarthy Veach¹, and Nancy P. Callanans²

¹ Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN, USA

² University of North Carolina at Greensboro, Greensboro, NC, USA

I've learned that people will forget what you said, people will forget what you did, but people will never forget how you made them feel.

―Maya Angelou

This famous quote, frequently attributed to Maya Angelou, seems particularly meaningful as the genetic counseling profession grows in size and scope. The types of patients to whom genetic counselors are now able to offer services is increasing but the service delivery models are also changing. These changes bring exciting new opportunities as well as challenges. In the first edition of this book, published in 2010, we said, “The explosion of knowledge and multiple opportunities for patients to learn about their genetic risks have far out‐paced advances in understanding complex psychosocial aspects of genetic counseling practice” (LeRoy et al. 2010, p. 1). Well, it is now clear, that was just the beginning. In 2010, direct to consumer (DTC) testing was in the initial stages of becoming available to the general population, and it would be three years before Angelina Jolie's prophylactic mastectomy introduced countless people to the world of cancer genetics. Events such as these have contributed to making genetics a common term. Moreover, the growth of DTC testing has made searching for relatives using one's own DNA, a popular pastime. Genetics now is not only a part of medicine identifying those at risk for disease and helping to direct the care of affected patients, it has a recreational side (e.g. using DNA to find relatives, learning about one's ability to perform as an elite athlete, finding a mate). And, almost everyone has heard the word genetics.

Scientific advances tend to focus our attention on the rapid changes in information and technology. Genetic counselors do love the science of genetics, and for good reason – it is endlessly fascinating. Just when we think we understand something, new knowledge emerges that improves the way we understand the genetic contribution to disease and how we understand the very basis of disease itself. It's easy (and even expected) to become fixed on the science; but it's also important to remember that most patients are struggling to survive with a condition or help loved ones who are affected. Attending to this struggle is genetic counseling.

This edition, just as the first, reflects our belief that, although up‐to‐date, relevant genetic information is critical to the success of genetic counseling, the practice goes so much further. We said in the first edition, “genetic counselors are active and compassionate participants in patients' efforts to understand their genetic risks, endure their emotional struggles, and make life‐altering decisions” (LeRoy et al. 2010, p. 1) This is still true today as genetic counselors find many new venues in which to apply their skills and provide services.

As this edition goes to press, the National Society of Genetic Counselors is celebrating its 40th anniversary, and the first class of genetic counseling students entered Sarah Lawrence College 50 years ago. Literature specific to the practice of genetic counseling literature has grown. The Journal of Genetic Counseling serves as a major venue for disseminating genetic counseling research that helps to inform many areas of practice. Still, there are relatively few teaching texts that provide focused and detailed instruction in psychosocial methods of genetic counseling practice. This book addresses some of the more challenging areas of practice and provides strategies for addressing patient needs as well as promoting genetic counselor professional growth.

Our authors are an exceptional group. As experts in the profession, they draw from their diverse experiences in clinical, academic, and leadership settings to provide readers with relevant examples that bring key concepts and skills to life. Whenever possible, the authors cite relevant genetic counseling literature that provides an empirical foundation for their chapters. Each chapter also includes activities that promote teaching and learning of the concepts and skills. We thank the authors for their valuable contributions and their thoughtful work.

Development of the 2nd Edition

We based the choice of topics for the second edition on our belief that, for the most part, those areas covered in the first edition exemplify advanced skills that remain very relevant and would be enhanced with the inclusion of recent genetic counseling literature. We also included new topic areas that reflect the growth of the profession in new directions and have new literature to support this evolution. In this edition, we are purposeful in using the word patient rather than client. We believe individuals coming to genetic counselors for services, typically do so in a clinical setting and therefore see themselves as patients. Genetic counselors working in laboratories are also integral to directly or indirectly helping patients understand disease and make decisions that help them use genetics to their benefit. Genetic counseling is a health care profession. It is implied in our definition:

Genetic counseling is the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. This process integrates the following:

• Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
• Education about inheritance, testing, management, prevention, resources, and research.
• Counseling to promote informed choices and adaptation to the risk or condition.

(Resta et al. 2006, p. 77)

Human behavior and the essence of genetic counseling practice have not changed, and so the Reciprocal‐Engagement Model (REM) of genetic counseling practice (McCarthy Veach et al. 2007) continues to play a foundational role in this new edition.

Reciprocal‐Engagement Model

The REM model is an amalgamation of data generated during a consensus meeting of North American genetic counseling program directors. Their task was to define a model of genetic counseling practice that was being taught at the time of the consensus meeting. A model of practice “refers to why and how the service is delivered to patients, as described by tenets, goals, strategies, and behaviors” (McCarthy Veach et al. 2007, p. 714). The participants worked to reach consensus regarding the tenets (fundamental beliefs shared by genetic counselors), goals (the aims of practice), strategies (methods for achieving goals), and behaviors (specific actions/interventions) that characterize genetic counseling practice. They identified five tenets.

• Tenet 1: Genetic information is key – Providing information about “perceived or known genetic contributions to disease” (p. 721) and engaging in discussion with patients about this information is a particularly unique aspect of genetic counseling.
• Tenet 2: Relationship is integral to genetic counseling – The quality of the relationship developed between the genetic counselor and patient is as important as genetic information. Genetic counseling “…is a relationally‐based helping activity whose outcomes are only as good as the connection established between the counselor and patient” (p. 721).
• Tenet 3: Patient autonomy must be supported – Patients should be as self‐directed as possible regarding genetic counseling decisions. The counselor is an active participant, working with the patient's individual characteristics and family and cultural context to facilitate informed decisions. However, an essential aspect of this tenet is that “the patient knows best” (p. 721).Tenet 4: Patients are resilient – Most patients have the strength to deal with p...