To begin a description of the definitions and goals of counseling, we reflect on our model of genetic counseling, one that we originally described as psychoeducational and more recently as psychotherapeutic (Biesecker, Austin, and Caleshu 2017a, 2017b; Biesecker and Peters 2001). In the most literal sense, the first descriptor, psychoeducational, is a better fit and appears more often in the literature. It encapsulates both the teaching and counseling paradigms of genetic counseling that Dr. Seymour Kessler differentiated, each with its distinct goals (Kessler 1997). This psychoeducational model recognizes that often clients are seeking information and that the information has both affective and cognitive consequences. We have evolved in our thinking to promote a psychotherapeutic model of genetic counseling (Biesecker et al. 2017a, 2017b) in concordance with Jehannine Austin’s argument that genetic counseling shares characteristics with psychotherapy (Austin et al. 2014).
Genetic counseling is often described in the media as a public resource for obtaining useful information on interpretation of heritable risk from genetic testing. Box 3.1 is the description of genetic counseling offered by the Centers for Disease Control and Prevention (CDC). As such, genetic counseling appears to be taking on an identity as an information service rather than a psychotherapeutic process. Evidence discussed throughout this text echoes concerns about genetic counseling that were raised in the early years of the profession by Dr. Kessler (1979). That is, if the practice of genetic counseling favors an educational or informational service model, it is at a cost to our clients.
Evidence of practice (Meiser et al. 2008) and public perceptions have obscured the role of genetic counseling in addressing the psychological impact of genetics—specifically, how the threat of a health risk or the diagnosis of a condition is processed by a client and elicits affective and cognitive responses that shape how the information is understood, acted on, and shared with others at risk. These patient-related outcomes are central to determining the effectiveness of genetic counseling and illustrate the importance of a psychotherapeutic counseling model to guide genetic counselors as they help clients and families manage their responses to genetic information. This model we describe in detail in Chapter 8.
Accordingly, a practice model depends on the definition of practice. As you will see in this chapter, historical definitions of genetic counseling follow the evolution of genetic counseling practice from its origins in the prevention of birth defects, to information communication, to the integration of education and psychotherapeutic counseling. Remarkably, only fairly recently have US genetic counselors been consistent in describing what they aim to accomplish in their clinical practice. The National Society of Genetic Counselors has prioritized identification of client and patient outcomes that are most highly sought and valued (https://www.nsgc.org/page/nsgc-outcomes-measure-developer-rfp).
An initial educational practice model likely arose from geneticists’ enthusiasm about emerging clinical information that could be offered to patients for understanding of genetic diagnoses and inheritance (Stevenson and Davison 1970). It would have been consistent with parents’ and patients’ expressed desires to understand the condition in their child or family. Yet a primarily educational model, referred to by Dr. Kessler as the “teaching model of genetic counseling,” falls short in addressing clients’ broad responses to the information (Kessler 1997).
Many assumptions belie a strictly educational model about the primary importance of genetic information in managing risk or informing reproductive decisions. The assumptions include high regard for the primacy of information and reinforce the notion that knowledge breeds control and mastery over risk. It follows that provision of accurate genetic information allows clients the opportunity to make not only informed choices but also rational decisions that are more closely aligned with the decision outcomes valued by genetics providers. It assumes that less rational decisions are misinformed or based on genetic ignorance, while they may actually be informed and based on patient preferences. When the context is preference-based decision making, an informed choice is the objective.*
A psychoeducational model (Biesecker and Peters 2001; Resta et al. 2006) embraces the affective and cognitive responses to genetic information that influence interpretation and meaning. Dr. Abby Lippman interviewed women who had undergone prenatal genetic counseling about the meaning they made of the information (Lippman-Hand and Fraser 1979b, 1979a, 1979d, 1979c). Lippman demonstrated that many women’s mental model for fetal risk was 50/50: it was either going to happen or not. Interestingly, Dr. Lippman’s findings illustrate a heuristic, a cognitive shortcut, often used to make personal meaning of probabilistic information (Tversky and Kahneman 1974). You may have experienced clients using this heuristic, most notably when they remark on their risk, “So it’s either going to happen or not, right?”
Clients who learn of an increased genetic risk or a diagnosis and appraise it as a significant threat to their health may experience psychological distress (Meiser and Quinn 2018), lower quality of life (Umstead et al. 2018), social stigmatization (Kumar et al. 2019), and changes to their self-identity (Berkenstadt et al. 1999; Fanos 1999a, 1999b; Fanos et al. 2011; Kessler 1979; Lippman-Hand and Fraser 1979b). Yet despite the potential for these outcomes, clients most often benefit from genetic information. Receiving accurate information can lead to patient relief from cognitive and affective uncertainties (Han et al. 2017) and gains in empowerment (McAllister and Dearing 2015) and can leave clients better equipped to make informed choices (Dormandy, Tsui, and Marteau 2007; Marteau, Dormandy, and Crockett 2005). The degree to which clients have negative affective responses varies by how psychologically and medically threatening the information is.
At a minimum, the information provided by genetic counselors is likely to leave clients feeling somewhat vulnerable. Affective responses can be influenced by clients’ background, needs, and expectations for genetic counseling (Peters and Petrill 2011a, 2011b). Prior personal experiences with the condition or risk in the family generate perceptions of the degree of burden of the condition and personal loss that are key determinants of the psychological perceived impact of the information (Lippman-Hand and Fraser 1979b).
Notably, those with experience with the condition may perceive less threat as they have seen their relatives mount the challenges. Among affected families, predictive risk information may be perceived as empowering and a source for at-risk relatives to make informed choices (Bell 2012; Caswell-Jin, Zimmer, and Stedden 2019; Cheung et al. 2010; Elrick et al. 2017). Appreciating the context in which the information is delivered to clients can reveal the individualized and personal nature of genetic information. Effective genetic counseling respects clients’ prior experience with a genetic condition or risk, while exploring responses that may emerge from learning novel or unexpected information.
Over its relatively short history as a professional practice, genetic counseling has been defined several ways. The first practice definitions originated in North America and were not explicitly distinct from the aim of preventing birth defects. These origins raised questions about the initial intent of genetic counseling and periodically continue to raise concerns about how successfully genetic counseling has evolved beyond them (Duster 1990). In her seminal history of genetic counseling, Dr. Alexandra Stern (2012) includes a memo written in 1968 by Dr. Melissa Richter, who established the first genetic counseling program at Sarah Lawrence College. In the memo, Dr. Richter described the intent of a “new health counseling service” to be the prevention of birth defects. Although the descriptor that rapidly gained favor was “nondirective,” aimed at declaring that the practice upheld autonomous decision making to act on genetic risk information, a shadow was cast over the goals of genetic counseling.†
In the foreword to Kessler’s textbook, Genetic Counseling: Psychological Dimensions, Epstein reviews several early practice definitions, each of which includes a goal to prevent or reduce the incidence of birth defects (Kessler 1979). By 1979, these definitions emphasized communicating genetic information and helping clients make decisions. Epstein comments on the notable switch in emphasis from prevention to counseling; however, somewhat paradoxically, he later remarks that prevention of birth defects remained a goal of genetic counseling (Kessler 1979). If we reflect back, perhaps by “prevention of birth defects” Epstein meant offering reproductive choices when fetuses were affected with a birth defect. Epstein may also have been referring to arming parents with information about heritable risks so they could make informed reproductive decisions prior to pregnancy. Regardless, the goal of preventing birth defects is reminiscent of eugenic intent and a reminder that the options offered to clients and patients in genetic counseling may be interpreted by some as efforts to avoid the birth of affected fetuses.
In the late 1970s, families affected by genetic conditions were speaking out to the medical genetics community to convey that they were not uniformly interested in preventing the condition in their family. About this time, scientists and others declared that the prevention of all birth defects and genetic conditions was unattainable due to the rate of spontaneous mutations in the population and the largely unknown, and thereby unalterable, cause of many birth defects. While scientists vocalized the unrealistic nature of the prevention goal, it remained in the shadows of genetic counseling. Dr. Troy Duster (1990) discusses the complexities of prevention in genetic counseling, including disparities in access to services, in his insightful book Backdoor to Eugenics (Duster 1990). Undoubtedly, there is a fine line between informed reproductive choices and prevention of the birth of affected children. On that line straddles the opportunity for parents to make autonomous decisions in line with their values, beliefs, and resources.
Almost everyone embarking on a pregnancy aims to have a baby unaffected by a structural or developmental abnormality. At present, prevention of birth defects is not limited to termination of affected pregnancies. Rubella vaccination is given to prevent fetal rubella syndrome. Folic acid is recommended to women planning a pregnancy to prevent neural tube defects. It is probably fair to say that most women, even the most ardent supporters of people with disabilities, would choose to have the rubella vaccination and take folic acid. Yet, the assumption that if clients are given accurate information on the genetic cause of a condition in their family, they will use the information to avoid the birth of future affected children suggests to some that the lives of those affected are less worthy (Parens and Asch 2003). This implication results in tensions between the views and priorities of disability advocates and genetic counselors, and greater tensions around reproductive rights in the United States (Dent et al. 2011; Madeo et al. 2011).
While parents armed with accurate genetic information may be presumed to make “good” decisions that result in the birth of fewer affected children, families with affected relatives espouse the virtues of living in a diverse society. A vocal majority claims that greater sensibilities, appreciation, and grace emanate from the value of the lives of their affected relatives (Parens and Asch 2000). While this seems to be the consensus view among advocates, the perspective of parents who have fewer resources to raise and care for a child with a developmental or medical challenge may not be fully represented in these views and may differ. Further, these parents may have fewer opportunities to access prenatal testing to make informed decisions for their families.
When clients make an informed choice that is based on sufficient understanding of the genetics information provided and that is in line with their attitudes (determined by personal values and beliefs), the collective outcome may be perceived (globally) as occurring in the interest of maintaining the “health” of the population. As such, genetic counseling has long grappled with a subtle or unspoken goal of preventing genetic conditions, even after the goal was eliminated from practice definitions. Providers find comfort in upholding the goal of prevention if it is actualized by clients using their free will to make autonomous informed decisions to terminate affected pregnancies. This may be broadly recognized as a covert, though not deliberate, effort to prevent birth defects in a morally acceptable way (Duster 1990).
Genetic counseling continues to generate tensions around the reduction of the incidence of people affected with genetic conditions or birth defects as remarkable advances in technology are occurring. Treatment and prevention of rare diseases through application of expanding technologies, such as CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats), predict healthier futures for those affected with genetic conditions. Examples include a recent announcement about individuals cured of sickle cell disease (https://sicklecellanemianews.com/2018/05/08/stem-cells-from-half-matched-donors-cure-sickle-cell-adult-patients-study-reports/).
While providing hope for patients and parents of affected children, this progress exacerbates the complications of how to consider the value of living life affected by a genetic condition. An overarching human goal is to prevent disease and suffering, so improved treatments and prevention are nearly universally welcomed; yet respect for human differences and inclusion of those with disabilities in our society is also a strong value upheld by most, and particularly by many genetic counselors (see Chapter 5 for discussion of genetic counselors’ values).
Following emphasis on prevention were practice definitions about communication. In North America, a commonly cited definition of genetic counseling for many years was written in 1974 by a committee of the American Society of Human Genetics (ASHG), chaired by Dr, Clarke Fraser. This definition has several components but focuses primarily on the communication process between family and counselor:
Genetic counseling is a communication process which deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. This process involves an attempt by one or more appropriately trained persons to help the individual or family to: (1) comprehend the medical facts including the diagnosis, probable course of the disorder, and the available management, (2) appreciate the way heredity contributes to the disorder and the risk of recurrence in specified relatives, (3) understand the alternatives for dealing with the risk of recurrence, (4) choose a course of action which seems to them appropriate in view of their risk, their family goals, and their ethical and religious standards and act in accordance with that decision, and (5) to make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder.
(Fraser 1974, p. 637)
Although others have declared that the ASHG practice definition remained relevant for twenty-five years (Walker 1998), two of us argued that the field of genetic counseling had evolved sufficiently by the early twenty-first century to warrant a more contemporary practice definition (Biesecker and Peters 2001). Genetic counseling, while often practiced in conjunction with medical genetics, is a distinct certified profession. In the United States, specialization of genetic counseling in oncology, cardiology, neurology, and ophthalmology means that genetic counselors often work within clinical teams where they function as the genetics expert without the presence of medical geneticists. Clear differentiation of genetic counseling from genetic diagnosis and medical management is important in distinguishing the roles of medical practitioners from those of genetic counselors. The accuracy of a diagnosis is critically important to informing the genetic information provided to clients, yet making the diagnosis is the purview of medical genetics and distinct from the expertise of genetic counselors. Yet even this paradigm has shifted through the use of genetic testing. Many diagnoses and risks can be verified by a test result that is interpreted by a genetic counselor.
Genetic counseling has been described in the professional literature as a series of tasks. In 1994, the American Board of Genetic Counseling (ABGC) convened a consensus development conference to identify a core set of practice-based competencies (Fine, Baker, and Fiddler 1996; Fiddler et al. 1996). Using a case-based narrative method, genetic counseling graduate program directors, education and accreditation consultants, and the ABGC board of directors together drafted genetic counselor competencies. They included:
a) eliciting and interpreting individual and family medical, developmental, and reproductive histories; b) determining the mode of inheritance and risk of occurrence and recurrence of genetic conditions and birth defects; c) explaining the etiology, natural history, diagnosis, and management of these conditions; d) interpreting and explaining the results of genetic tests and other diagnostic studies; e) performing a psychosocial assessment to identify emotional, social, educational, and cultural issues; f) evaluating the client’s and/or family’s responses to the condition or risk of occurrence; g) providing client-centered counseling and anticipatory guidance; h) promoting informed decision-making about testing, management, reproduction, and communication with family members; i) identifying and using community resources that provide medical, educational, financial, and psychosocial support and advocacy; and j) providing written documentation of medical, genetic, and counseling information for families and other health professionals.
In 1996, the ABGC endorsed these competencies (Fine et al. 1996; Fiddler et al. 1996). They served as a basis for professional certification and graduate program accreditation in the United States. Both were critical achievements in the professional development of master’s-trained genetic counselors. Although there is a paucity of empirical evidence to support these competencies as critical to practice, their delineation has importantly contributed to standardization of genetic counseling training and likely to genetic counseling practice. Certification and accreditation served as cornerstones to the specifications of how genetic counselors should be trained and what level of achievement was considered necessary to meet clients’ needs.
Three central components of genetic counseling (to teach, counsel, and advocate) are suggested by the competencies. Yet, the competencies were determined without context. They generally fail to include assessment of client needs or how these skills are to be used to meet genetic counseling goals. The purpose served by the information, whether it is aimed at what the client seeks to learn or what the expectations are for clients to act on the information, is unstated. These early competencies were derived from counselors’ perspectives of what they ought to be sharing with their clients. As such, they are not client-centered outcomes (even if they do serve clients), they are not evidence-based (because no evidence existed), and they originated from a small group of professional leaders. Regardless of these limitations, these original competencies served to instigate standardization for training and practice.
Given the limitations of prior definitions, practice competencies, and the evolving practice of genetic counseling, two of us proposed a novel practice definition in 2001 with explicit practice goals (Biesecker and Peters 2001):
Genetic counseling is a dynamic psychoeducational process centered on genetic information. Within a therapeutic relationship established between providers and clients, clients are helped to personalize technical and probabilistic genetic information, to promote self-determinism and to enhance their ability to adapt over time. The goal is to facilitate clients’ ability to use genetic information in a personally meaningful way that minimizes psychological distress and increases personal control. (p. 194)
This definition describes genetic counseling provided by trained experts working with diverse patients in any clinical setting. Specialization in genetic counseling makes it increasingly challenging to define the practice in a way that unifies the many facets of the profession. Yet, it is this very diversity within genetic counseling that makes it increasingly important for there to be a central definition of the practice and stated goals. This definition emphasizes the therapeutic relationship that facilitates exploration of the meaning of and succeeding adaption to the genetic information for the client. Our proposed definition was a departure from prior emphases on diagnosis, communication, and, more subtly, prevention. In keeping with the discourse of reproductive ethics, the definition upholds respect for self-determinism (Wertz and Gregg 2002) and embraces the education and counseling components. It rests on the theoretical and empirical evidence for the adaptation process people progress through when encountering a personal health threat (Kessler 1979; Taylor 1983). It contributed to the literature on practice definitions and may have informed the 2003 decision by the National Society of Genetic Counselors (NSGC) to appoint a task force to create a practice definition for the profession.
Two of us (Resta and Biesecker) participated in the 2005 NSGC task force (Resta et al. 2006). We reviewed past practice definitions, assessed their limitations, considered the rising variety of subspecialty practices, and determined the need to create a definition that applied generically to all settings. Care was taken to differentiate genetic counseling practice as distinct from tasks conducted by genetic counselors. The latter were recognized to be important but more context-specific and represented by ABGC practice competencies and thus more relevant to graduate training in genetic counseling than to practicing professionals. The task force found it challenging to differentiate the essence of the practice from the skills and activities undertaken by genetic counselors in practice. The definition was intended to be universal to context, setting, provider, and location across North America, yet it is unknown how well it represents genetic counseling practice worldwide. The following is the definition resulting from the NSGC committee’s efforts:
• 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)
In 2018, the authors of this 2006 definition informally reconvened to assess whether it remained relevant twelve years hence, in light of the remarkable expansion of professional roles (Resta et al. 2006). We sought to assess how frequently the definition has been cited, and whether and how it is taught in graduate programs across the United States and beyond. An informal survey of program directors found that ten international training programs use the 2006 definition as a reference point throughout training. Typically, it is shared with students early in their training and contrasted to country-specific sociocultural differences, which may be covered by the definition but actualized differently in practice. As of May 4, 2018, the definition was cited in sixty-one references in PubMed Central, 465 references in Google Scholar, 342 references in ResearchGate, and 276 references in CrossRef. In the Journal of Genetic Counseling, the definition article was in the ninety-ninth percentile for citations. The relevance of the definition seems to be holding up well in the United States and overseas, which our author group found to be quite validating of its continued relevance. We do advocate for the importance of periodically revisiting the definition to reassess its appropriateness in light of practice advances.
Goals of Genetic Counseling
Practice goals emerge from the model and the definition of genetic counseling. In keeping with the NSGC definition and our proposed model, the primary goals of genetic counseling resemble those of other psychoeducational counseling interactions: promoting understanding, facilitating decision making, achieving client informed choice, reducing psychological distress, enhancing perceptions of personal control, and advancing adaptation to health-threatening information and experiences (Resta et al. 2006). These client-centered objectives represent an expanded view of genetic counseling practice, which initially placed emphasis on the communication of genetic information to inform decision making.
Responses and behaviors of genetic counseling clients are not unique but rather follow the common course of psychological processes of individuals experiencing stressful life events. Genetic counseling practice recognizes that clients generally have inner strength to appraise and cope with genetic risk or a genetic condition in their family with time. Yet their initial responses are the need to make meaning of the health threat and align their resources for coping with the stress it generates (Taylor 1983). Genetic counselors have potent opportunities to assist in the process of psychological adaptation to genetic information (Biesecker and Erby 2008).
When clients first learn genetic information, the counselor focuses on helping them begin the process of making meaning of the information. If it is unexpected, a shock response is expected: The clients are taking in what they can but will benefit from compassionate regard above all else. After the clients have absorbed the implications of the information, the goal of genetic counseling is to help them appraise the degree of health threat and identify their resources, such as opportunities for taking control and gaining confidence in their ability to cope. Later, after time has passed since the information was learned, the goal of genetic counseling is enhancing clients’ coping abilities, with the longer-term objective of adapting to the condition or risk. Missing an opportunity to help clients assimilate difficult information is to skirt our professional responsibilities to our clients and, worse, our moral obligations to one another as compassionate fellow human beings.
It is expected that clients will need time to adapt, and the time they need depends in large measure on the degree of threat posed. For example, if the diagnosis of a genetic condition, such as Cornelia de Lange, confirms unexplained concerns a couple has had about their baby, the diagnosis may provide some relief and valuable information for a couple striving to make sense of their concerns about their child. In contrast, if there is no prior awareness of a problem or concern, a diagnosis of Cornelia de Lange will likely come as a shock and the couple would be reeling from the information—barely able to comprehend what was being said to them. Recognizing the circumstances and likely state of mind of clients is important so that the counselor can engage with them effectively. A counselor may choose to acknowledge to parents that while it is a terribly painful process, most people adapt over time. This may provide a kernel of hope for the future in what may feel like a hopeless circumstance. Yet if this comment is made just as the parents are learning that something is significantly different with their child, this comment would be of little help and may even hurt the parents. You can imagine them thinking, “We are not ‘most people’!” “What if we don’t adapt?” Genetic counselors need to have a clear understanding of the state of psychological well-being of their clients. If the parents have had time to absorb the circumstances, counselors can reinforce their role by being available to help the family through a challenging time and offer great comfort to the parents. Timing in the delivery of further information or counseling interventions is critical to their effectiveness, and hinge on empathic understanding of one’s clients.
It is insufficient to describe the goal of genetic counseling as being “supportive.” This term is vague and, when offered to clients, can leave them feeling unmoored. It may also conflict with what clients expect from the genetic counseling encounter (Peters and Petrill 2011a, 2011b). What does it mean to tell our clients that we “support them at this difficult time” or “support whatever decision they make”? While well intended, these phrases represent a form of emotional disengagement. Further, such statements can be confusing for clients, who in general look to clinical providers to take on the role of responsible decision makers in medical situations.
Genetic counseling demands more than a vague notion of offering support. It involves establishing an active partnership with a client to a degree where the counselor takes risks to connect with the client on an personal level. To help a parent make an informed choice, the counselor ensures that the client understands the information, is acting in accordance with his or her values and beliefs, and makes a decision that is consistent and psychologically sound given the circumstances and context of his or her life. One challenging circumstance in genetic counseling that can arise is that parents often hold themselves responsible for their child’s condition and may hang on to a particular explanation (causal attribution) because it serves an important psychological function. For example, if a mother believes it was the bathroom cleaner she used during her pregnancy that led to her baby’s condition, the causative agent may be avoided in future pregnancies. This attribution, while almost certainly inaccurate, provides a way for her to perceive that she has control over the health of her future children, and it may prove particularly important to her psychological well-being should she have more children. The good news for counselors eager to disabuse her of her erroneous attribution is that evidence finds that maintaining an explanation such as the bathroom cleaner does not seem to impede accepting that the child has a genetic condition. Most parents (and patients) are capable of holding multiple causal attributions to explain their child’s condition (Dong et al. 2005) A common example is to believe that a condition was God’s will and resulted from chromosomal nondisjunction. One of these attributions does not exclude the other; rather, they work together to give a parent a reason and meaning for the child’s genetic status. As such, a goal of genetic counseling should be to uphold causal attributions that parents (and patients) assign to their child’s condition without disabusing them of their causal role, while supplying a scientific attribution that can be simultaneously accepted. It serves no useful purpose for a genetic counselor to try to convince parents that the scientific attribution is the only explanation.
Failing to engage clients in a therapeutic encounter can happen rather innocently if the counselor tries to reassure parents after a diagnosis has been made that the child is “the same child that walked in the door an hour earlier” and that nothing has changed beyond placing a label on the child’s characteristics. This is commonly told to parents who have engaged in a journey to arrive at a diagnosis. But this message—that things are “just the same”—likely differs substantially from the parents’ viewpoint. From the perspective of the family, they have replaced general uncertainty about their child’s condition with specific uncertainty about how a condition will manifest, the risks to others in the family, and how to share this information with family members and friends. Yet, the uncertain, but “open,” future for their child, entails limited parameters on how the child’s life may unfold and so also often gives yield to hope. Receiving a diagnosis can bring relief and more certainty, but it also likely means that going forward will be quite different for the child and family. Providing reassuring platitudes often serve the provider by making him or her more comfortable in the face of delivering a diagnosis rather than addressing clients’ needs. It is only when we engage with clients in an empathic relationship that we can begin to understand what a diagnosis means to them and not try to take that meaning away but to understand it, even when we might not consider it to be scientific or fully rational.
Our clients’ perceptions are personal and important to their well-being and that of their family. An aim within the process of genetic counseling is to understand the implications of the genetic information from the clients’ perspective rather than attempting to persuade them to accept our scientific and/or psychological view. Clients make their own meaning of the information. We need to avoid trying to normalize or minimize the fears and concerns that accompany learning a diagnosis. While genetic counseling aims to convey accurate and relevant genetic information to clients, it needs to be personalized in the context of their existing cognitive and affective needs.
Most genetic counseling clients are psychologically healthy and have the personal resources to withstand the impact of learning health-threatening information about themselves or their relatives. The professional literature on coping with chronic illness suggests that people are stressed to learn they are at increased health risk but that, over time, they find ways to adapt, even when the circumstances are grave (Lazarus and Folkman 1984). It is important to remember that, generally, adults and children adapt to health threats on their own, often without the assistance of health care providers. Clients tend to rely on family, social networks, and personal resources, not just those offered by the medical profession. Increasingly, the internet offers online support and advocacy groups to connect with other patients and parents of children with the same condition, even among parents whose child is undiagnosed. These connections, whether informal or formalized in advocacy organizations, can provide parents with relevant, condition-specific information and suggestions of ways to cope with the threat of the condition to their child.
Shelley Taylor (1983) posited a theory of adaptation that has been supported by evidence into sustaining threats or injuries, including cancer, rape, and heart disease. Evidence supports that clients progress through three dimensions of the adaptation process in response to a threat: (1) a search for meaning in the experience, (2) an attempt to regain mastery over the event in particular and over one’s life in general, and (3) an effort to enhance one’s self-esteem—that is, to feel good about oneself again despite the setback. The majority of people facing illness or loss achieve a quality of life or level of happiness equivalent to or even exceeding their prior level of satisfaction (Andreasen and Norris 1972; Katz 1963; Myers, Friedman, and Weiner 1970; Tavormina et al. 1976; Visotsky 1961; Weisman and Sobel 1979; Wortman and Silver 1989). The prevalence of client adaptation to genetic conditions, based on measures of quality of life and psychological well-being, is notably high (Athens et al. 2017; Cohen and Biesecker 2010; Sulzer et al. 1962).
Evidence supports an existential view of clients as remarkably capable and inherently adaptive (Biesecker et al. 2013; Cohen and Biesecker 2010; Sutton et al. 2006; Turriff, Levy, and Biesecker 2015). While such a view provides health care providers with a dynamic framework for assessing client reactions to health-threatening information, this is not to say that all clients adapt in the same way, or that some clients do not suffer considerably during the process. It may be lengthy and particularly difficult for some clients. They may experience depressive symptoms, isolation, social stigma, and adverse effects on family relationships (Biesecker et al. 2013; Gray et al. 2017; Green et al. 2001). There are many opportunities for counselors to employ interventions to enhance the adaptation process (see Chapter 8).
Genetic counseling that focuses primarily on providing information and answering clients’ questions would be enhanced by understanding the broad context in which the questions are being asked, such as Taylor’s cognitive adaptation theory (1983). Educational efforts are significantly more effective if they are made personally relevant to the client and are tailored to fit the client’s needs. In this way, they interdigitate with engagement in a therapeutic relationship. A psychoeducational approach tailors not only the information but also the counseling approach. A couple who has suspected a problem in their baby for some time may be ready to incorporate new information and to process what it may mean not only for the baby but also for themselves. They may be prepared to discuss how frightening it has been to realize that something so substantial is wrong with their infant and how scared and isolated they have been feeling. Acknowledging these feelings in a meaningful way may be the important start of an empathic connection. These feelings do not likely to dissipate rapidly, and it can be a powerful experience for parents to discuss them and to feel “heard.” Yet none of us outside of their experience can truly understand. This is the nature of empathy; we understand as if it were us, but without ever neglecting the “as if” circumstance.
A unifying practice model and definition will not lead directly to singularity in practice goals as they vary by setting and client needs. Goals are less about what the genetic counselor thinks that clients need and more about what the clients think and feel they need. To practice client-centered care, genetic counselors need to consider their clients’ beliefs, values, understanding, relevant experiences, and preferences. When these clash with the priorities of counselors or are based on misinformation, a patient-centered negotiation of the goals may be needed, although this is not essential if the clients assess that their goals have been met. Specific practice goals (Biesecker 2001) by subspecialty follow.
Prenatal genetic counseling aims to help clients make informed choices as such; the goal is to promote clients’ self-determination in exercising reproductive choices. The specific aims of prenatal counseling are (1) delivering personalized genomic information to clients in a meaningful way; (2) partnering with clients to explore the meaning of the information in the context of their personal values and beliefs; (3) promoting clients’ preferences for reproductive options with consideration of alternatives, consequences, and barriers; and (4) preparing clients for accepting the consequences of their decision.
In the majority of cases presenting to a pediatric or adult genetics clinic, a family member is affected with a condition and the patient or parents are seeking to learn the diagnosis, prognosis, and recurrence risks. As such, the goal is to facilitate client understanding, meaning making, appraisals, coping, and adaptation. The specific aims of pediatric/adult genetic counseling are (1) exploring clients’ understanding of the cause; (2) promoting feelings of mastery over a condition and appraisals of one’s abilities to manage it; and (3) enhancing coping effectiveness to facilitate adaptation to the condition.
Genetic counseling in oncology, neurology, cardiology, ophthalmology, and psychiatry addresses risk for more common complex genetic disease and options for predictive testing. The goals of genetic counseling for common diseases are to understand personalized disease risk and to enhance health-promoting behaviors. The specific aims of genetic counseling for common diseases are (1) enhancing accuracy of risk perceptions; (2) promoting health-enhancing behaviors; (3) facilitating adaptation to genetic risk; and (4) detecting disease early and/or preventing it.
The application of practice definitions, such as the NSGC 2006 definition, and the above-stated goals, need to be studied to assess their appropriateness and usefulness to client care. To pursue this line of research, some consensus on key client outcomes of genetic counseling is needed. In psychotherapy, outcome studies often focus on observable client changes such as improved psychological well-being, satisfaction, problem-solving, social adaptation, reduction of negative symptoms (such as distress or anxiety), or behavior change. Some of these outcomes have been assessed in genetic counseling studies designed by investigators trained in health behavior, and health or social psychology (Chapter 10).
Genetic counseling outcome studies have sought to assess how well the process worked to educate the client (Meiser et al., 2008), satisfy the client, or facilitate decision making (reproductive or test decisions) (Evers-Kiebooms and van den Berghe 1979; Michie, Marteau, and Bobrow 1997; Michie, McDonald, and Marteau, 1997; Shiloh, Avdor, and Goodman 1990; Sorenson et al. 1981; Wertz and Fletcher 1988). An exploratory study of genetic counselors and a sample of their clients argued for outcomes that included the client’s sense of being heard, encouraged, valued, and attended to as well as improved family communication, anticipation of future feelings and experiences, and clarification of personal beliefs and values shaping decisions and attitudes (Bernhardt, Biesecker, and Mastromarino 2000).
Many of these “outcomes” instead relate to the process of genetic counseling where clients can have a voice and are respected by the genetic counselor. These processes, described in detail in Chapter 8, are key to establishing a therapeutic relationship and pave the way for positive client outcomes. To train genetic counselors, findings from process studies can be very useful, particularly when they are linked to desirable outcomes. To assess the effectiveness of genetic counseling, we need to further investigate what aspects of counseling our clients believed was beneficial to them.
In the 2010s, focus groups of genetic counselors held at sequential NSGC conferences were conducted to assess perceptioms of practice outcomes (Redlinger-Grosse et al. 2016; Zerhuit et al. 2016). Using the proposed domains of the Reciprocal Engagement Model (Veach, Bartels, and LeRoy 2007) the findings resulted in the publication of extensive lists of constructs proposed as outcomes (Redlinger-Grosse et al. 2016). Yet many items listed also feature as process variables. While a laudable effort to advance research in genetic counseling, these publications may have obscured what constitutes priorities for assessing practice effectiveness. Ideally research into desired outcomes should be conducted as patient-reported outcomes, rather than outcomes reported by providers. While there can be a role for both, if providers are aiming for different outcomes than their clients, their assessment will not lead to effective practice.
To this end, Dr. Marion McAllister and colleagues (2001) endeavored to assess client-reported outcomes by surveying patients who had received medical genetics services. These efforts resulted in the development of the Genetic Counseling Outcome Scale (GCOS), which has been subsequently validated in several studies. The original scale included twenty-four items, which included “receiving a diagnosis”—this would be a goal of the medical visit, not an outcome to assess genetic counseling. The GCOS has been shortened to six items that are specific to genetic counseling and assess the construct of patient empowerment, called the Genomics Counseling Scale (Grant et al. 2019). These are the only genetic counseling outcome scales based on patient-reported outcomes.
Determining primary outcomes for genetic counseling continues to be a high priority in research (see Chapter 9 for further discussion). A critical aspect of practice outcomes is how well they represent patient needs and reflect the practice model, definition, and goals as presented in this chapter. Of greatest importance are the outcomes of genetic counseling most highly valued by our clients.
This chapter discusses a general practice model, summarizes definitions of genetic counseling, and proposes practice goals and the need for an array of evidence-based outcomes for assessment. Genetic counseling is psychoeducational in that it recognizes the importance of both genetics information and its impact on the lives of clients. It incorporates the goals of enhancing informed choice and facilitating adaptation to genetic conditions or risk. Such goals lead to client outcomes related to successful psychological adaptation. Assessing the value of genetic counseling for our diverse clients is of great importance to an evolving profession. Later in the text we explore genetic counseling as psychotherapeutic to emphasize the importance of the psychological counseling components of care.
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