Introduction

With the improved ability to more finely identify variation throughout the genome, uncertainty surrounding prenatal test results and their implications has increased. The uncertainty associated with many genetic variants identified through prenatal genomic testing frustrates prospective parents and clinicians. Conveying the science of such findings is difficult for the clinician, and sometimes the art of counseling the family in those circumstances is even more daunting. Prospective parents enter the genomic service space with tremendous variation in health literacy, numeracy, genomic knowledge, information seeking tendencies, cognitive or mental health challenges, tolerance for uncertainty, and expectations of pregnancy and parenting. Ultimately, patients must make life-changing decisions, frequently based on genomic test results with uncertain implications. Such an endeavor requires help from clinicians who feel comfortable with both the science of genomic medicine and the art of counseling within the context of uncertainty.

In this paper, we briefly review the evolution of prenatal genetic counseling in the face of uncertainty as well as principles of patient-centered practice as they are applied to genetic counseling. We discuss the ways genomic discovery has increased the kinds of uncertainty counselors must address with prospective parents and the ways individuals adapt to uncertainties. Then, we draw on findings from the general counseling and the genetic counseling literatures as well as our work with a large, federally funded study of prenatal chromosomal microarray analysis (CMA) to suggest recommendations for practice throughout the prenatal testing trajectory. We end with discussion of how genetic counselors can attend to their own needs to enable them to be most effective with their patients.

Evolution of Counseling in the Context of Genetics and Genomics

Genetic counselors across practice settings are frequently called upon to assist patients with genetic information at each step from the introduction of testing, to review of results, to assisting patients with adapting and responding to results (Bernhardt 2014). The earliest genetic counselors focused on conveying facts and probabilities to promote “rational” decision making (Pauker and Pauker 1977; Reed 1974). Yet, these counselors had very little genetic information to interpret for and with patients (Stern 2009). Thus, their professional focus was on counseling clients, primarily in prenatal and pediatric settings, about inheritance patterns, chromosomal disorders, and a limited choice of emotionally- and morally-challenging options.

With the development of masters-level genetic counseling, the field moved to emphasize psychosocial counseling and autonomous, values-based decision-making (Marks 1993; Veach et al. 2007). The Reciprocal – Engagement Model of genetic counseling emerged as a result of identifying the tenets, goals, strategies, and behaviors involved in genetic counseling (Veach et al. 2007). With this model, the relationship between the patient and genetic counselor supports the goals of conveying genetic information, understanding patients’ emotions and values, and supporting patient autonomy (Resta et al. 2006; Veach et al. 2007). Scientific advances facilitating testing for Mendelian disorders and, more recently, for conditions caused by changes throughout the genome, have led to genetic counseling sessions that are predominated by education about technological aspects of testing that may yield complex, nuanced, and uncertain results (Meiser et al. 2008).

Genetic counselors must convey this scientific uncertainty while simultaneously providing support, exploring patients’ psychosocial contexts for tolerating and interpreting such information, helping the patient to clarify and articulate values, and assisting the patient to make decisions (Austin et al. 2014). We argue that, in the face of a professional space defined by increasing uncertainty, genetic counseling must return to its roots in providing a balance between the science of genomics and the art of counseling.

Balancing Genetic (Science) and Counseling (Art)

Genetic counseling is grounded in the principal that ‘genetic information is the key’ to informed decisions (Veach et al. 2007). When clear information about the implications of genomic findings is unavailable, this foundation of genetic counseling becomes more challenging. Due to beliefs about the infallibility of biomedical knowledge, prospective parents may have unrealistic expectations about the certainty with which CMA results can be interpreted and effectively acted upon. This jeopardizes pre-existing expectations that prenatal testing is meant to provide assurances about the health of a fetus (Hunt et al. 2005). To build strong alliances with families, and to practice in accordance with the mission of the profession (Resta et al. 2006), genetic counselors must work with families to identify what is known and what is unknown, and to move counseling beyond discussion of scientific limitations to help families create pathways through uncertainty. These pathways are forged by articulating the limits of prenatal genomic testing, identifying crossroads where prospective parents have choice, presenting the array of options available at those moments, helping families consider their tolerance for risk, and supporting families through decision making and adaptation.

Research on counseling and therapeutic relationships consistently shows that the counselor’s theoretical approach to counseling is less important than the presence of a strong working alliance or therapeutic relationship (Wampold 2010). Such a working relationship is characterized by common factors such as empathy, warmth, positive regard and congruency /authenticity (Djurdjinovic 2009; Gelso and Carter 1994; Rogers 1957), and other facilitating aspects of the working alliance, such as collaborative work towards goals/tasks, willingness to address ruptures in the alliance, and shared problem-solving (Eunpu 1997; Lambert and Barley 2002; McDaniel 2005). Effective counseling is focused on building rapport within a nonjudgmental and nurturing environment (Bachelor 1995; Kessler 2001). This is often called the “holding environment” (Winnicott 1960), a physical and emotional space of safety where patients can be open and vulnerable with the counselor. The holding environment is characterized by use of active listening, additive empathy (identifying underlying emotion on a deeper level than the patient has overtly expressed), promotion of open self-disclosure, trust, and collaborative work to convey to the patient that they are not alone. Many psychotherapy researchers draw on Saleebey’s (2006) strengths perspective to help counselors of all types recognize that, to make painful decisions in the face of uncertainty, patients do not need to be “empowered” so much as to be helped to identify and draw upon existing strengths to adapt priorities and cope with expectations (Peterson et al. 2002). Grounding scientific information within such a nurturing relationship is foundational for the recommendations that follow.

Counseling through Uncertainty

Genetic variation identified on prenatal CMA testing can be uncertain in terms of molecular consequence, pathogenicity, clinical relevance and penetrance (Westerfield et al. 2014). For example, for some novel but likely deleterious genomic variations, no information is available about the expected phenotype. Especially pertinent to copy number variants, there is a tremendous amount of phenotypic variability associated with known deletion/duplication syndromes. Interpretation of the significance of copy number variants found on prenatal samples is further complicated because most of the available phenotypic information is derived from children who were tested because of the presence of symptoms, skewing the data towards the severe end of the spectrum (Martin et al. 2015). Most CNVs are associated with a range of probabilities of various potential complications, and it is generally not possible to assess fetal clinical involvement, especially with regards to neurocognitive development.

When counseling prospective parents about uncertain information, it becomes important to consider sources of scientific uncertainty, and to differentiate between reducible (for example, uncertainty associated with misunderstanding or not seeking out the scientific data) and non-reducible (for example, uncertainty associated with the absence of scientific data or uncertainty related to probability) uncertainties. Han et al. (2011) have identified three sources of uncertainty. The first derives from probability, referring to an indeterminacy of a phenotypic outcome. The second derives from ambiguity relating to lack of credibility, reliability, or adequacy of information or evidence. The third source derives from complexity, represented by the multiplicity of factors contributing to uncertainty. Han (2013) also suggests that non-scientific aspects of uncertainty, such as a patient’s personal goals or outlooks on life will influence how uncertainty is perceived and managed by the patient. The locus of uncertainty, that is, whether it exists in the mind of the patient or the clinician or both should also be addressed.

Yet, uncertainty exists in all facets of daily life. When we are faced with novel experiences or concepts, our brains automatically attempt to interpret them within the context of our established worldviews. When this is not possible, we create new mental representations that define the properties and parameters of uncertainty to make it understandable and manageable (Kahneman et al. 1982). These representations are influenced by our disposition, the context within which we perceive uncertainty to impact our lives, our ability to tolerate risk (Weber et al. 2002), and our expectations of ourselves, important others, and our social and physical worlds. Additionally, people may feel constitutionally bound to continue seeking information in the face of uncertainty (maximizers) or may be satisfied with the level of information presented to them (satisficers) (Parker et al. 2007). These perceptions often shape the ways individuals seek out resources, make decisions, and cope with the aftermath of a decision or event.

In medicine, patients and providers seek to minimize uncertainty. Given the nascent state of genomic testing and the broad dimensions of uncertainty currently associated with much genomic information, our efforts to mitigate uncertainty in the prenatal and perinatal periods will be challenged for the foreseeable future. Clients may be angered by the limitations of prenatal genomic testing and direct their frustration towards counselors, threatening the therapeutic relationship (Djurdjinovic 2009). When uncertainty threatens prospective parents’ treasured, and often unquestioned, values or goals, counselors can gently interrogate the origin and nuances of those values to nurture flexibility. But frequently, uncertain prenatal testing results may leave counselors without confidence, believing they are unable to help families who saw promise in seeking out genomic information. To assist genetic counselors in these highly charged, uncertain encounters with prospective parents, we draw on recommendations from several studies and integrate those recommendations with general genetic counseling and therapeutic relationship development strategies. We describe practice skills and provide language for approaching these challenging conversations with prospective parents.

Recommendations for Genetic Counseling Practice

The recommendations that follow are drawn from our research with patients, families, and clinicians confronted with positive, and frequently uncertain, findings from CMA. Our studies used quantitative and qualitative methods to explore genetic counselors’ and prospective parents’ needs and experiences with prenatal CMA testing; the findings are presented elsewhere (Bernhardt et al. 2014, 2012; Rubel et al. 2015; Walser et al. 2015, 2016; Werner-Lin et al. 2015). Although the recommendations emerge from our research involving prenatal CMA testing, they may be applicable in genetic counseling situations involving uncertain results beyond the setting of prenatal CMA.

We Recommend That, to Consolidate Discussion of Uncertainty and Frame Prenatal Decision Making as a Family Concern, Genetic Counselors Encourage Partners to Attend Appointments Together

Before the first appointment has even happened, the structure of the counseling relationship and who is legitimately involved with prenatal decision-making is established by who attends the appointments. Although universal partner participation may be unrealistic given the structure of work and family obligations, particularly for minimally resourced clients, encouraging partners to attend the initial and subsequent appointments sends the message that they are intimately involved and that their support and input are welcome and necessary (see Table 1). This encouragement frames prenatal testing as a family concern that has implications for the future of the family unit. Such a framing will minimize the need for pregnant women to act as conduits of complex, nuanced, and emotionally charged information (Werner-Lin et al. 2015). This is particularly important when information is uncertain. With both partners present, each hears that the information itself is uncertain, rather than opening the woman up to charges of not having gathered or recalled enough information if the partner wants a “complete” report upon her return from the appointment. When partners attend genetic counseling sessions together, they can engage in discussion with the genetic counselor directly about how much genetic information they desire, share their own knowledge base about the nature of uncertain information, and make “real time” decisions about testing and acting on results. Both partners hear the genetic counselor’s assessment of what information is clear and what is uncertain or unable to be known. To facilitate participation of partners (after HIPAA clearances) providers may request email or phone information and reach out directly to elicit questions or concerns and invite them to attend sessions (Walser et al. 2016).

Table 1 Pre-counseling phone contact
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We Recommend Counselors Approach Assessment as an Ongoing Process

Genetic counselors will best serve prospective parents using a model of thorough and ongoing assessment that starts with the first contact regarding prenatal genetic testing. Through such assessment, counselors can help prospective parents to identify and articulate what information is uncertain, evaluate what aspects of uncertainty are important to the prospective parent(s), and assess how they and family members are coping with that uncertainty.

Pre-Test Counseling

Thorough assessment allows counselors to follow and respond to the fluidity of patients’ informational, emotional, and social needs throughout the pregnancy. The use of pre-test counseling as a time for building rapport and assessing patient fears, strengths, and expectations cannot be overstated (Etchegary et al. 2008; Veach et al. 2007). This permits the counseling relationship to develop prior to disclosure of test results. With prenatal CMA testing, prospective parents often want all available information (Walser et al. 2015), and they may simultaneously feel pressure to consent to highly sensitive testing even when they have strong feelings against its use or have little idea what action they may take as a result of specific findings (Hillman et al. 2013).

An early area for assessment is the patient’s risk tolerance, or how much uncertainty a person can manage emotionally. Although assessment tools such as the DOSPERT are available to measure risk tolerance (Blais and Weber 2006), genetic counselors can broadly assess risk tolerance by asking prospective parents about what type (cognitive, psychiatric, physiological), intensity (mild to severe) and levels (chance of clinical presentation) of uncertainty make them uncomfortable with regard to the pregnancy and what risks they are willing to accept as they relate to the potential outcomes of the genomic findings. Probing gently about such outcomes may help prospective parents clarify their intent for seeking prenatal testing (see Table 2).

Table 2 Initial assessment during pre-test counseling
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Helping families begin to identify possible decision-points, expectations, and decisional styles is part of an ongoing assessment that starts in the pre-testing session. Despite counseling around the possibility of finding a positive result, prospective parents often undergo testing without consideration of the downstream consequences (Bernhardt et al. 2012). Thus, the return of a pathogenic or uncertain finding is a devastating surprise. Families need help during pre-testing counseling to consider their expectations and the potential for positive results. The use of priming (asking questions or giving hypothetical scenarios before there is an actual problematic result) may allow for deliberative decision-making if such results are received (Lobel et al. 2005; McCoyd 2013; White 2005). Genetic counseling sessions often also ignore attitudes about abortion and about parenting a child with a disability (Farrelly et al. 2012). The majority of patients will not need to make decisions related to a positive or an uncertain test result. However, for that small percent who do have a problem detected, to have an established relationship will add comfort and it is worth the time spent with all patients (McCoyd 2015). If not considering these possibilities until the results are conveyed, families may struggle with decision making throughout the pregnancy and beyond (Bernhardt et al. 2012). A discussion of these issues before prenatal testing results are available may better prepare couples faced with making a decision in the midst of a crisis (Bernhardt et al. 2012; McCoyd 2013).

Returning Uncertain Results

Counselors may provide information about CMA to couples who view testing as an “offer too good to pass up” but who are then blind-sided by uncertain and unquantifiable risks revealed in their results (Bernhardt et al. 2012). This outcome challenges the perspective that knowledge is power.

In a situation where biomedical information is unclear, patients may seek other sources of knowledge to find certainty. Identifying the ways patients gather information in the face of uncertainty is an important piece of the on-going assessment (see Table 3). Clinicians will best serve prospective parents by advising them on how to search for and sort through the array of available online information (Bernhardt et al. 2012; Walser et al. 2016), including medical literature, links to support groups (online and in-person), and reputable websites (Rubel et al. 2015). Helping patients to recognize whether they tend to continue to search for information even after it is clear they have exhausted the limits of knowledge (maximizers) or whether they can be satisfied with the information provided by the genetic counselor (satisficers) (Schwartz et al. 2002) will help them place such information- searching into perspective.

Table 3 Return of uncertain results
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Beyond empirically validated resources, patients will seek to personalize information to their specific situation. Some will seek out spiritual and religious advisors. Others will focus ‘internally’ to the ways they experience their pregnancy physically, or to ‘gut instinct,’ for direction and clarity (McCoyd 2015; Rubel et al. 2015). Many will approach members of their social networks to learn from other women’s experiences with high-risk pregnancies, or about the experiences of other families raising a child with a variant similar to that of their fetus. The stories to which people have been exposed greatly influence these expectations, their sense of risk, and what they are able to tolerate in their own pregnancy and parenting experience (Winterbottom et al. 2008). This means that genetic counselors need to explore the stories families bring to counseling as well as to help them see these stories as a way they process uncertainty into a sense of increased certainty. To create a climate of acceptance and open communication in the clinic, counselors can recognize the ways knowledge derived outside the biomedical setting is legitimate and meaningful for patients. These other sources of knowledge seek to answer the unanswerable questions that uncertain CMA findings generate (Rubel et al. 2015). Through acknowledging these other sources of information and respecting them, counselors help patients understand and sort through information of varying quality and type.

We Recommend Genetic Counselors Deliver Important Informational Content, and View Such Content as Necessary but Insufficient for Informed Decision Making

Informational Content

Genetic counselors are tasked with providing as much information as possible about the potential child’s expected health and development. Counselors may feel uncomfortable or inadequately prepared to engage in discussions with prospective parents who are faced with making decisions about pregnancy termination based on uncertain information (Bernhardt et al. 2014). Communicating about uncertainty may result in information overload and confusion because of the complexity of the information itself (Han 2013). Information should therefore be tailored according to how much information is desired by the patient and the pace of delivery (Epstein and Gramling 2013). This information combined with the patient’s assessment of the potential child’s quality of life and concern about the challenges the family will face if the pregnancy is carried to term, become important metrics for prospective parents’ decision-making about whether to continue or terminate an affected pregnancy (McCoyd 2008; Walser et al. 2016).

Counselors must understand how to explain terminology associated with genetic variants (e.g. penetrance vs. variable expressivity) in a way that is accessible (Roter et al. 2009). Counselors must identify and clarify misconceptions, encourage patient dialogue with counselors about relevant concepts, and avoid fueling uncertainty by creating additional barriers to understanding (see Table 4). Messages are more credible when delivered by a trusted provider, therefore developing a strong relationship is crucial to supporting an environment for informed and shared decision-making (Politi and Street 2011). Counselors often get bogged down in explaining the details of genomic processes with specificity that is not necessary to a patient’s decision making (Redlinger-Grosse 2014). Asking patients to explain to the genetic counselor what they perceive as known or uncertain can help both counselor and patient to understand the critical aspects of the situation without getting lost in the science, and can prompt the counselor to correct misunderstandings.

Table 4 Shared understanding of informational content
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Decisional Support

Issues reproductive genetic counselors find critical to decision making may be less important to prospective parents (Farrell et al. 2015). Counselors should seek direction from patients by asking them what they identify as most important (Walser et al. 2015). In social work, there is an adage to “start where the client is.” This allows the genetic counselor to assess primary concerns rather than trying to mind-read or moving into a pre-planned approach that is not tailored to the specific patient. Identifying and exploring patient concerns builds trust and a strong working alliance (Taylor-Brown and Johnson 1998). Such conversations can reveal social, moral, or ethical pressures towards adopting a specific course of behavior, and permit counselors to examine these pressures to help prospective parents decide how to incorporate that knowledge into their decision making.

We recommend that before sessions, counselors gather all available clinical and scientific information relevant to the findings that might be central to pregnancy-related decision making, deliver this information clearly and succinctly, assess understanding, and then move beyond informational content to emotional reactions and decisional support. This may include discussion of how families have made difficult decisions in the past and what happens when family members disagree with each other about highly emotional or contested topics (see Table 5). When family members disagree with each other, we recommend separating members, even briefly, to enable candid discussion, evaluate for risk of coercion or violence, and balance the discussion with the counselor as mediator, if necessary.

Table 5 Decision support
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We Recommend That Counselors Address Emotional Content Openly and Directly

Prospective parents often exhibit emotional cues during genetic counseling and counselors vary in their willingness to acknowledge and enhance prospective parents’ affective responses (Duric et al. 2003). Duric et al. (2003) found that when genetic counselors acknowledged and empathetically responded to an initial emotional cue, patients were more likely to disclose other emotions and less likely to show depressive symptomatology after the session than those whose affective content was overlooked. Yet, even the most experienced counselors may struggle to tolerate the emotional lability present in the consultation room following return of uncertain CMA results.

Return of pathogenic or uncertain CMA results often surprises prospective parents who, even though adequately counseled about the likelihood of their discovery, do not entertain the possibility of personally receiving such a result. Families may express anger, fear, sadness, or anxiety. Some will cry and others will yell at the clinician. Some may become preternaturally quiet and disengaged. Clinicians must remember that their comments may trigger strong emotions and that working through them with prospective parents will yield stronger provider/patient partnerships and greater trust. To begin, we suggest counselors name the emotions expressed by prospective parents in order to begin discussion about aspects of results that triggered these emotions and to validate patients’ reactions (see Table 6). Going beyond just naming an expressed emotion to tentatively identifying underlying feelings about the pregnancy and the results helps to take patients to deeper levels of insight, self-awareness, and the ability to process emotions towards sound decisions rather than impulsive reactions.

Table 6 Managing intense emotions in the consultation room
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Preparing Families for Ebbs and Flows of Distress

Counselors can minimize emotional uncertainty for prospective parents by educating them about common periods of increased distress and relief throughout the process of prenatal testing. For example, waiting for parents’ testing results to confirm whether a fetus’ CNV was de novo or inherited was identified as the most stressful period for some families (Werner-Lin et al. 2015). During this period, couples’ relationship to the pregnancy and to the anticipated experience of parenting may shift dramatically, transforming the ‘hoped for’ experience into something tentative and uncertain. This is an optimal time to evaluate the prospective parents’ confidence in their ability to cope and to increase the intensity of psychosocial support of families. Preparing families in advance for this distress normalizes and validates intense feelings of worry or loss.

During the initial crisis of receiving a positive finding, patients may approach trusted loved ones for emotional support, so an examination of the support system’s existence and ability to help buffer stress is essential (Cohen and Wills 1985). The chronic nature of genomic uncertainty, however, may place a strain on social relationships within which shock, denial, and/or grief are initially processed. This may tax physical, emotional, financial, and social resources in many ways and over long periods of time.

Some patients may be overwhelmed by the need for a decision on whether to continue the pregnancy and, in the face of uncertainty, experience “analysis paralysis” due to being overwhelmed by the number and gravity of choices to be made (Schwartz 2004). Genetic counselors need to be prepared with referrals to other providers who can meet with prospective parents to assist with decision-making, adaptation to decisions, and support over the long term, including connecting families with resources for evaluating the child over time. Providers who are uncomfortable providing reproductive counseling about uncertain CNV results should refer patients to clinicians with more experience and comfort (Walser et al. 2016).

We Recommend Preparing Families for Hard Choices and Distinguishing between Urgent Decisions and Important Decisions

As families come to understand the array of possible phenotypes their baby may express, they may begin to question long-untested moral and ethical beliefs (Rubel et al. 2015). It is important to validate that the patient must make a decision without having all of the information they would wish. Acknowledge what is unknown. Then, acknowledge what IS known about the capacities they feel they have for making the decision, for parenting a child who may have or develop medical conditions of varying severity, and for coping with the aftermath of a decision, whatever it is.

Urgent decisions include those about whether to consider pregnancy termination. Yet, these decisions often trigger strong emotions and are fraught with social, moral, ethical, and religious dilemmas. Counselors may find it difficult to ask prospective parents their thoughts and feelings about abortion (Farrelly et al. 2012). The use of clear, direct language will facilitate conversation focused on patient needs (see Table 7).

Table 7 Distinguishing between urgent versus important decisions
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Once genetic counselors have supported values clarification with prospective parents, they can help families identify how their risk tolerance influences their current decisions, when such decisions can/should be reassessed, and a timeline appropriate to the presenting situation. For example, decisions about pregnancy termination are time-constrained due to legal restrictions on abortion based on gestational age. This is an urgent decision. Consideration of post-natal support services and early intervention are important decisions, but they are not yet urgent; pathogenic or uncertain CNVs are often associated with conditions of unpredictable onset and severity so making treatment decisions prior to a baby’s birth may be premature.

The complexity associated with uncertain or pathogenic variants may precipitate a period of crisis within families. To cope effectively, families may move rapidly towards decisional endpoints ahead of their utility and necessity (Werner-Lin et al. 2015). This type of foreclosure is not an informed decision; it is an impulsive move before all the available information is collected. Helping prospective parents to see the difference is a key aspect of helping them distinguish between important and urgent decisions (see Table 7). Counselors can validate the need for these decisions, as well as the reasons to allow time for reflection (when possible) and not impulsive decision making. We recommend a gentle shift in conversation that acknowledges family concerns and then moves families back towards urgent and timely considerations (e.g.: additional confirmation testing of parents/siblings; consideration of abortion; possibilities for therapeutic intervention in the perinatal period) (see Table 8).

Table 8 Addressing the aftermath of decisions made
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The Aftermath of Decision-Making

Coping with uncertainty and grief associated with a positive prenatal finding is not a discrete or time-limited event, and some patients will manage uncertainty with greater ease than others. Unlike earlier conceptions of grief that involved stages/phases such as Kubler-Ross’ stages, (Kubler-Ross 1969), we now understand that grief and loss are iterative and involve meaning making (Neimeyer 2001), a sense of being entitled to one’s grief (Doka 2002), and are more defined by postmodern conceptions of grief theory than by recipes on how to do grief well (McCoyd and Walter 2016). This requires the counselor to continually explore patients’/family’s ways of making sense of what is happening to them, not only in terms of the specific information being conveyed, but in terms of what meaning that information has for them individually and as a family.

Should a family decide to continue a pregnancy, helping to actively prepare them to fully stand behind their decision is important. They must be helped to consider whether they will interpret every odd behavior on the part of their child as an indicator of the uncertain genetic variant showing its phenotype. Meaning making may include accepting the child as a full family member. Helping to prepare families to have ongoing contact over time with perinatologists, pediatricians, genetic counselors, and genetically informed mental health practitioners is a vital aspect of preparing the family for the future (Bernhardt et al. 2012).

Genetic Counselors’ Experiences

Genetic counselors will vary in their own tolerance for uncertainty in their lives and in their work. When clinicians regularly provide care to patients and families making life-altering decisions under conditions of significant uncertainty, discomfort is common and compassion fatigue may result (Bernhardt et al. 2009, 2010). Clinicians must be aware of the resources at their disposal for managing distress (their own and their patients’) as well as how to identify their need for greater supports. Here, we make recommendations directly to the genetic counselor to enhance training and self-care in ways that decrease discomfort in balancing the scientific- and art- demands of prenatal genetic counseling. We continue to draw on our research with genetic counselors offering CMA to prospective parents. Yet, the recommendations below may be useful across genetic counseling settings.

We Recommend Continuing Education and Peer-Supervision Focused on Communication Skills and Training Workshops to Enhance Counselor Confidence and to Permit Reflective Practice

Genetic counselors have expressed a high degree of interest in continuing education about prenatal CMA and counseling about uncertain results (Bernhardt et al. 2014). To help prospective parents make a decision under conditions of uncertainty, clinicians must themselves become comfortable with uncertainty (Bernhardt et al. 2014). It can be uncomfortable to sit with families as they struggle to understand phenotypic variability, the limitations of genomic knowledge to date, and the lack of concrete outcomes data. Attending educational workshops and trainings can add to a sense of competence and understanding about where the limits of certainty exist. When one is aware of the limits of knowledge and learns to embrace uncertainty as a part of the human condition, the level of frustration as a result of such uncertainty is lowered. Reframing uncertainty as a normal and customary part of life that challenges everyone to live with a certain degree of unpredictability can help to reduce unrealistic expectations of having certainty and predictability in all things. In the same way counselors work to help individuals avoid expectations of perfection, genetic counselors must help themselves and their patients to recognize that predictability is not a possible or even preferred outcome in all things; hence, nature tends towards unpredictability and variance rather than total predictability and sameness.

Peer Supervision

Examining counseling sessions afterwards with peers or supervisors will help counselors understand where their own feelings got in the way of listening fully and empathically to patient concerns. Even more, such discussion will allow the genetic counselor to gain support from peers who understand and who can provide perspective when one is beginning to experience compassion fatigue (Kennedy 2000). By building relationships with colleagues that allow for case processing and support of one another, genetic counselors take the first steps in assuring that they can stay fresh enough to continue to provide support to patients under conditions of uncertainty and emotional intensity. The uncertainty, and shared frustrations over the limits of information, will be understood by other genetic counselors as a part of the genetic counseling environment. Such connections can be made within one’s area of practice or beyond, and such empathy among colleagues allows the support and professional growth necessary to continue this hard work (Hiller and Rosenfield 2000).

We Recommend That Counselors Engage in a Variety of Self-Care Modalities to Help Them Attend More Completely to Patient Anxiety That May Result from Uncertainty

Compassion fatigue is the experience of emotional, and subsequent physical, exhaustion resulting from helping others through emotionally challenging and intense experiences (Benoit et al. 2007). Genetic counseling sessions across settings are often brimming with intense emotion: fear, worry, anger, sadness, and frustration about the limits of information. Witnessing such intensity, and working with it in a concentrated time frame, takes a toll on providers. Such fatigue must be recognized and honored to prevent burnout, to enable responsible and competent practice, and to maintain a good balance between work and home life (Benoit et al. 2007; Bernhardt et al. 2009).

To avoid compassion fatigue, genetic counselors must continue to experience compassion satisfaction (see the Professional Quality of Life Scale, www.proqol.org) and engage in self-care. Ideas for self-care are available from multiple sources (Mathieu 2007) and are deeply personal. Engaging in contemplative practices such as mindfulness will allow the counselor to monitor her own feelings, biases, and assumptions to permit self-acceptance while also enhancing patient care. This awareness will help her engage in active listening, identify indications of patient’s understanding and receptivity, and assist patients in making personal meaning of the information and choices offered (Bernhardt et al. 2014).

Conclusion

The uncertainties inherent in our new genomic technologies mean that the information genetic counselors need to share with prospective parents and other patients is fraught with challenges about decision-making in the face of that uncertainty. Risk tolerance, decision-making skills, ability to manage emotion, and values all interact within the genetic counseling relationship in ways that require the counselor to manage not only the science of the genetics, but the art of the counseling. Here, we have provided guidance and verbiage for genetic counselors to enable them to interact with prospective parents to assess how they are interpreting information the genetic counselor is providing, not only through the scientific lens, but through the emotional and psychosocial impact of that information (and its uncertainty). Use of these recommendations, which are empirically grounded (Bernhardt et al. 2012, 2014; Rubel et al. 2015; Walser et al. 2015, 2016; Werner-Lin et al. 2015), can assist the genetic counselor in managing these challenging interactions. Additionally, we urge genetic counselors to attend to their own need for support and information to enable them to thrive in their profession under high levels of uncertainty.