Research in Genetic Counseling

The field of genetic counseling has historically valued the role of research. More recently, graduate programs have raised the standards for student thesis projects so that a greater percent are of publishable quality. The profession has acknowledged key research gaps, such as a lack of consensus on the primary client outcomes of counseling. Further, the National Society of Genetic Counselors has endorsed the importance of evidence that may be used to guide practice. Herein we present the role of genetic counselors as researchers and discuss approaches to designing research studies to answer key service delivery questions and patient-reported outcomes. To frame research in genetic counseling, health behavior and social psychology theories offer models for identifying key variables likely to predict client decisions and their outcomes. To date, studies in genetic counseling have been framed by the self-regulation model and the theory of planned behavior. A systematic review of randomized controlled trials in genetic counseling identified psychological well-being and gain in knowledge as the most prevalent patient outcomes. Evidence can be used to predict decisions to undergo genetic testing or follow up on results.

Definitions and Goals of Genetic Counseling

The definition of genetic counseling has evolved from being proscriptive to the triumvirate of patient education, facilitating informed decision making, and adaptation to a risk or condition. This definition, endorsed by the National Society of Genetic Counselors, has been widely cited and used in graduate training around the globe. Despite significant advances in the roles of genetic counselors, the central tenets of counseling remain. Our practice model was previously described as psychoeducational but has evolved to psychotherapeutic to emphasize relational counseling. The goals of genetic counseling are specific, vary by subspecialty, and evolve with advances in genomic science. In the cancer setting much of genetic counseling is about cancer risk and the potential value of predictive testing to inform choices, whereas in the pediatric setting, the goal is to diagnose or determine a cause for a child’s condition.

Relational Genetic Counseling

This chapter emphasizes the importance of the relational components of a psychotherapeutic approach to genetic counseling. It outlines the steps to developing a therapeutic alliance with a client that are implied but not stated in the Reciprocal Engagement Model. Reinforced are the need for safety and trust for the client, conveying respect, and being genuine in the relationship. Contracting is described as an exchange between the counselor and client to establish the session goals. Relational counseling skills are used to establish a relationship that fully addresses the implications of genetic information. These skills include asking open-ended questions, followed by closed-ended questions; clarifying understanding; paraphrasing; reflecting feelings; and summarizing the client’s perceptions and needs. They constitute the process used to establish a therapeutic relationship that is essential to addressing the threat of genetic information and clients’ related fears and hopes. What results from this process is an empathic connection with clients where informed decisions are made, coping is enhanced, and/or adaptation is facilitated.

Characteristics of Genetic Counselors

Beyond sensitivity to ones clients in genetic counseling, self-awareness by the genetic counselor is critical to effective patient care. Generally, genetic counselors are scientifically minded, optimistic, and high in emotional intelligence. These traits are assets to developing the skills to engage empathically with clients. Genetic counselors also hold personal beliefs about the inherent ability of clients to make good decisions for themselves and benefit from learning personalized genetic information. They value genomic science and are exuberant in sharing it, at times at the cost of effectively teaching clients. Theoretical and practical educational approaches can build strategically on counselors’ assets. Genetic counselors also value the lives of disabled adults and children, support reproductive freedoms, believe those at genetic risk should not be discriminated against, and that access to health care is a universal right. These values and beliefs propel counselors to do challenging work. Self-care is central to maintaining ones ability to care for clients. Risk of compassion fatigue can be offset with strategies to manage it, including use of professional or peer supervision.

History of Genetic Counseling

The history of genetic counseling as a clinical practice ultimately has its roots in eugenics. Although medical geneticists distanced themselves from eugenic ideology after World War II, that separation was sometimes more in name than practice. The history of the genetic counseling profession does not have direct connections to eugenics, although the profession has since its inception been intimately connected with medical genetics and medical geneticists. Key historical moments in the emergence of genetic counseling as an independent profession include the creation of specialized master’s-level training programs beginning in 1969 at Sarah Lawrence College, the formation of a professional society (the National Society of Genetic Counselors), a professional certification process governed by genetic counselors separate from medical geneticists, the establishment of a professional journal, and working affiliations with a wide range of clinicians beyond medical geneticists such as obstetricians, oncologists, surgeons, cardiologists, and neurologists.

Genetic Counseling in the Genomic Era

The nature and scope of genetic counseling is continuing to evolve in the face of the expanding application of new genetic testing technologies like exome and genome sequencing. This creates a new set of challenges for determining the role of genetic counselors and genetic counseling in the delivery of genetic services. Genetic counselors may shift from being gatekeepers to genetic testing to interpreters of complex genetic test results. While this may require learning new biomedical information, the application of basic counseling skills will continue to be critical to service delivery. While testing has become more sophisticated and complex, it still comes down to families and patients trying to integrate genetic information into their lives in meaningful ways. This has, on one level, not changed for at least the last half-century.

Psychological Counseling Theories

Due to the diversity of clients’ needs, there is no central theory of genetic counseling. Psychological counseling offers an array of theories pertinent to the goals of genetic counseling sessions. These theories offer frameworks in which strategies emerge that may be most effective in meeting client needs. Person-centered theory was introduced at the origins of genetic counseling for its contribution of the concept of nondirectiveness. Yet Carl Rogers himself obliterated this from his person-centered theory once he came to appreciate that all human interactions have directive components. Since then, this theory has remained pertinent to genetic counseling because of its high regard for clients’ personal resources and their self-actualizing potential. Cognitive-behavioral and solution-focused theories can be applied to cases where decisions are being deliberated to help clients weigh potential consequences. Strength-based counseling leaves clients empowered to effectively cope with challenging circumstances. Such theories are contrasted to practical approaches that include bereavement and crisis counseling. In the latter, the counselor attends to clients’ need for safety and care from loved ones as they absorb devastating news.

Characteristics of Genetic Counseling Clients

It is readily apparent that not all genetic counseling clients are homogeneous. However, it is harder to appreciate the ways that client variability can impact the process, dynamics, and outcomes of genetic counseling. Some of the critical client characteristics that come into play during genetic counseling are religion, gender, sexuality, ethnicity and culture, language, health status, age, and family dynamics. These traits influence not only the way that we perceive and engage with clients, but also the way that clients perceive and engage with us. Failure to recognize the influence of these characteristics can result in poor counseling outcomes and frustration on the part of both clients and counselors. Awareness and management of transference and countertransference are critical to delivering competent and compassionate care.

Introduction to Genetic Counseling

A critical component of a genetic counselor’s professional growth is to develop the counseling skills to be able to “read” patients to gain a better understanding of the psychological underpinnings of their hopes, dreams, fears, choices, actions, suffering, reactions, strengths, and apparent weaknesses, as well as their cognitive understanding of genetic information. The purpose of this book is to help the reader to develop and expand some counseling skills that are key to the professional development of a genetic counselor. This chapter provides an overview of the issues to be addressed in the chapters that follow—counseling skills, and theories, how to critically think about ethical issues and how they may be addressed in clinical practice, laying a foundation for developing expertise to develop and investigate research questions relevant to the practice of genetic counseling, providing a sociological perspective on genetic counseling patients and genetic counselors, and offering a historical context to create a better understanding of why genetic counseling looks the way it does today.

Conflict of Interest and the Code of Ethics

Conflict of interest (COI) can be defined as a set of circumstances that creates a risk that professional judgment or actions regarding a primary interest (e.g., a patient’s best interests) will be unduly influenced by a secondary interest (e.g., financial or professional gain for the counselor). Although conscious and intended unethical behavior resulting from a COI, most COIs occur at a subconscious level and are a normal aspect of human psychology and behavior. It can be very difficult for any professional to recognize a COI, and even more difficult for highly ethical people to realize that they may be making unethical choices. As such, COI is a critical professional issue that is largely inevitable and, like countertransference, needs to be managed, ideally with the help of professional supervision and/or a disinterested third party. The National Society of Genetic Counselors offers resources for addressing COI and its Code of Ethics provides a professional ethos and guidelines for helping to guide ethical behavior for the practice and profession of genetic counseling.