A Person-Centered Approach to Cardiovascular Genetic Testing

Abstract

Cardiovascular genetic counselors provide guidance to people facing the reality or prospect of inherited cardiovascular conditions. Key activities in this role include discussing clinical cardiac screening for at-risk family members and offering genetic testing. Psychological factors often influence whether patients choose to have genetic testing and how they understand and communicate the results to at-risk relatives, so psychological counseling increases the impact of genetic education and medical recommendations. This work reviews the literature on the factors that influence patient decisions about cardiovascular genetic testing and the psychological impact of results on people who opt to test. It also models use of a psychological framework to apply themes from the literature to routine cardiovascular genetic counseling practice. Modifications of the framework are provided to show how it can be adapted to serve the needs of both new and experienced genetic counselors.

Genetic counselors have a unique role that spans medical, genetic, and psychological domains (Accreditation Council for Genetic Counseling 2015). In the context of the complex psychological challenges faced by their patients, genetic counselors need to convey accurate medical information in a way that patients can understand, retain, and put to meaningful use (Veach et al. 2007). In a cardiology setting, the core medical activities of a genetic counselor include (a) family history risk assessment, (b) selecting the most informative relative(s) for genetic testing, (c) selecting the appropriate genetic test, (d) educating the patient and family members about the purpose of the test, (e) ensuring accurate variant interpretation, and (f) communicating the implications of the results effectively to the patient and family (Somers et al. 2014; Cirino et al. 2017).

Cardiovascular genetic counselors interact with patients who often have multiple disease-related stressors, including the physical burden of cardiac symptoms and difficulties adjusting to a treatment plan or medically indicated lifestyle changes. Patients may also feel uncertainty about their or their family's health, fear the risk of sudden death, and exhibit psychological distress related to their own condition or witnessing the decline and/or sudden death of a relative (Aatre and Day 2011; Caleshu et al. 2016). Psychological distress adversely affects a person's ability to retain and process information with downstream effects on factors affecting key medical outcomes, such as decision-making, adherence to the medical plan, and the desire and ability to communicate risk information to others (Borders et al. 2006). Therefore, effective psychological counseling skills are imperative for cardiovascular genetic counselors to meet their medical goals of education and management (see Ingles 2019).

UTILITY OF GENETIC TESTING FOR CARDIOVASCULAR DISEASES

Inherited cardiovascular diseases are a heterogeneous group of conditions with a wide range of clinical findings and causative genes (see Table 1; Cox 2007; Ackerman et al. 2011; MacCarrick et al. 2014; Pugh et al. 2014; Burke et al. 2016; Garcia et al. 2016; Maurer et al. 2016; Goyal et al. 2017; Muchtar et al. 2017; Arbustini et al. 2018; Geddes and Earing 2018; Giudicessi et al. 2018; Pierpont et al. 2018; Ingles et al. 2019; Stout et al. 2019). Conditions that cause isolated cardiovascular disease include familial hyperlipidemias, cardiomyopathies, arrhythmias, disorders of the aorta, and congenital heart disease (Cirino et al. 2017). Most follow an autosomal-dominant inheritance pattern, meaning that first-degree relatives of an affected person are at 50% risk of inheriting the genetic predisposition for the condition. X-linked, autosomal-recessive, or mitochondrial inheritance patterns occur less often and, rarely, multiple pathogenic Mendelian variants may be present in the same family (Cirino et al. 2017).

Table 1.

Inherited cardiovascular conditions and the most common causative genes and/or other genetic causes

Inherited cardiovascular conditions	Common causative genes and cellular functions
Cardiomyopathies
Hypertrophic cardiomyopathy	Sarcomere and associated genes ACTC1, FHL1, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNI2, TPM1
Dilated cardiomyopathy Phenotypic and genetic overlap with arrhythmogenic cardiomyopathy	Sarcomere and nonsarcomere structure, electrolyte homeostasis, and other genes BAG3, DES, FLNC, LMNA, MYH7, PLN, RBM20, SCN5A, TNNC1, TNNI3, TNNT2, TPM1, TTN
Arrhythmogenic cardiomyopathy Includes arrhythmogenic right ventricular cardiomyopathy	Desmosome, electrolyte homeostasis, and other genes ACTC1, DES, DSC2, DSG2, DSP, FLNC, JUP, LMNA, PKP2, PLN, RBM20, RYR2, SCN5A, TMEM43
Left ventricular noncompaction	Sarcomere gene MYH7
Restrictive cardiomyopathy	Sarcomere genes MYH7, TNNI3, TNNT2
Arrhythmias
Long QT syndrome	Transmembrane ion channel genes KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2
Catecholaminergic polymorphic	Calcium-handling genes
ventricular tachycardia	CALM1, CALM2, CALM3, CASQ2, RYR2, TRDN
Brugada syndrome	Transmembrane sodium channel gene SCN5A
Aortopathies
Marfan syndrome	Extracellular matrix protein gene FBN1
Vascular Ehlers–Danlos syndrome	Type III procollagen gene COL3A1
Loeys–Dietz syndrome	Transforming growth factor-β signaling pathway genes SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
Familial thoracic aortic aneurysms and dissections	Smooth muscle contraction and metabolism ACTA2, MYH11, MYLK, PRKG1, TGFBR2
Hyperlipidemias Familial hypercholesterolemia	LDL receptor and associated proteins LDLR, APOB, PCSK9
Congenital heart disease
Anomalous pulmonary venous connections Atrioventricular septal defects Complex lesions Conotruncal lesions Heterotaxy Left ventricular outflow tract Right ventricular outflow tract Other septal lesions	Varied etiologies include: Multifactorial Aneuploidies Chromosomal microdeletions or duplications Single genes vary according to type of structural difference
Inherited conditions with extracardiac involvement
Hereditary amyloidosis	Transthyretin gene TTR
Hereditary muscle disorders	Genes vary according to clinical diagnosis
Biochemical genetic disorders	Genes vary according to clinical diagnosis
Other syndromic conditions
RASopathies and other syndromic conditions	Genes vary according to clinical diagnosis

Diagnostic and predictive genetic testing may be helpful for the care of people with known or suspected inherited cardiovascular disease. Diagnostic testing may confirm a genetic etiology for index patients who have a borderline phenotype or environmental risk factors that might contribute to the phenotype. For example, a clinical diagnosis of hypertrophic cardiomyopathy is sometimes unclear if a person with left ventricular hypertrophy also has a history of hypertension, in which case a genetic diagnosis clarifies the need to recommend cardiac screening for their relatives. Diagnostic testing can also guide treatment in cases in which a causative gene is associated with an increased likelihood of adverse events, such as life-threatening arrhythmias. For example, identifying a disease-causing variant in the LMNA gene lowers the threshold for recommending placement of an implantable cardiac defibrillator. In other cases, a positive genetic result diagnoses a phenocopy with a treatment that might not otherwise be considered, such as enzyme replacement therapy for people diagnosed with Fabry disease. Most often, however, genetic test results do not change the care of the index patient because the clinical diagnosis is sufficient to guide treatment (Aatre and Day 2011).

The primary goal of genetic testing is to identify a gene variant that facilitates predictive testing of at-risk family members. Relatives with positive results from predictive testing become eligible for appropriate follow-up care, and those with negative results can forgo ongoing cardiac screening. It is important, therefore, that genetic test results be as accurate as possible, because the classification of a variant may have far-reaching implications for the patient and their family. It is also very important for the genetic counselor to communicate the results and associated clinical recommendations in a way that maximizes the person's ability to understand and transmit that information to their family, particularly against a backdrop of multiple concurrent psychological stressors.

ISSUES IN DECISION-MAKING

There are several topics that cardiovascular genetic counselors need to discuss with patients and families considering genetic testing, including (a) the purpose of the test, (b) the likelihood of identifying a causative variant, (c) implications of positive, negative, and uncertain results for the patient, (d) implications for family members, and (e) the possibility of variant reclassification (Cirino et al. 2017). Eliciting details about a patient's life allows personalized education so the person can better conceptualize and remember how medical information applies to their specific situation. For example, education about family screening recommendations and the possibility of predictive testing can be personalized by using the names of specific family members.

The credibility of medical information is increased when it is delivered by a trusted provider, and trust is established by identifying and exploring patient concerns (Werner-Lin et al. 2016). Assessing the patient's motivations, expectations, and hopes may also reveal critical information that enhances the effectiveness of a counseling session. For example, two people with the same well-established, stable cardiovascular diagnosis may have very different hopes for the outcome of testing. One person may hope for a positive result because they want predictive testing to be an option for their family, but another may harbor hope that their diagnosis is not truly genetic because they do not want to believe their family is at risk. The first person would be motivated to have genetic testing and consider a positive test result to be desirable news, whereas the second person might downplay the validity of the test and decide not to pursue it because they fear a positive result. Understanding the second person's perspective allows the genetic counselor to guide the session toward exploring their fear of a heritable condition, which likely influences their ability to talk about their condition as well as the choice to have or forego genetic testing.

Literature on Decision-Making and Uptake of Genetic Testing

In literature spanning genetics specialties, qualitative studies report that people have fairly consistent motivations and concerns about genetic testing, but the consistency of the predictors of behavior are not borne out in quantitative studies (Sweeny et al. 2014). Of note, perceived test-related factors (benefits of testing, few risks or barriers, and positive attitudes toward testing) seem to more consistently predict uptake of genetic testing than condition-related factors (perceptions of risk, control, severity of the condition) or demographic factors (Sweeny et al. 2014).

In cardiovascular genetics, most studies have focused on the uptake of predictive testing, whereas studies investigating diagnostic testing have looked at mixed populations of affected and at-risk individuals (Smart 2010; Khouzam et al. 2015; Burns et al. 2016). Reasons for testing include external factors (provider recommendations or family pressure) and internal factors (reducing uncertainty, risk clarification for relatives, an explanation for a cardiac event, or an unexplained sudden death in the family) (van Maarle et al. 2001; Smart 2010; Erskine et al. 2014). One study found the strongest predictor of uptake to be cues to action like a doctor's recommendation, an offer of testing, or other variables that precede genetic counseling (Khouzam et al. 2015). Among those who chose to undergo testing, perceived negative aspects of testing include the potential emotional impact of a positive result and the possibility of continued uncertainty (Smart 2010; Erskine et al. 2014).

Several studies have focused on the behavior of at-risk relatives. One study found that family screening uptake rates were higher among people at risk for arrhythmias than cardiomyopathies (80% vs. 45%) (van der Roest et al. 2009). This finding is consistent with a predictive testing uptake rate of 60% in a study of a Long QT population and several studies that have reported an uptake rate of 39% for predictive testing in hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) populations (Charron et al. 2002; Christiaans et al. 2008; Miller et al. 2013; Burns et al. 2016). One study reported higher education and household income levels among people who got genetic testing, which led the authors to consider whether others may lack access to genetic services (Burns et al. 2016).

Of interest, a family history of sudden death does not significantly affect genetic testing uptake rates (Christiaans et al. 2008; Khouzam et al. 2015). There is some qualitative evidence that a family history of sudden death may play a strong role in some individual choices, either reinforcing the need for testing or leading people to avoid learning their genetic status (Smart 2010; Khouzam et al. 2015; Burns et al. 2016). In other cases, people use defense strategies to minimize their risk, such as hypothesizing nongenetic causes for a death or emphasizing that deaths occurred in another branch of the family (Ormondroyd et al. 2014). The varied ways that people navigate sudden death or other disease-related factors reinforces the need for personalized genetic counseling with a strong psychological emphasis in the cardiovascular setting.

Themes to explore during a pretest discussion are highlighted by two qualitative studies of people at risk to inherit highly penetrant variants causing arrhythmogenic right ventricular cardiomyopathy. Among people who had predictive genetic testing, the decision-making process either progressed gradually and included consideration of a variety of factors or happened so quickly that it was not necessarily viewed as a decision at all (Manuel and Brunger 2014; Etchegary et al. 2015). The interlocking factors that people weighed included (a) the availability and reliability of the test, (b) awareness of numerous losses or deaths in the family, (c) physical signs and symptoms of disease, (d) their own gender, (e) sense of relational responsibility or moral obligation to other family members, and (f) family support or pressure (Manuel and Brunger 2014; Etchegary et al. 2015).

Literature on the Psychological Impact of Genetic Test Results

On the whole, studies indicate that the outcome of genetic testing itself is less predictive of long-term emotional distress than other factors such as the person's baseline emotional state, stressors related to the effects of the disease itself, and relational factors within the family. The results may act as a trigger of an underlying psychological dynamic or they may provide a sense of clarity that promotes adaptive coping. There are certain factors that correlate with distress among subgroups of people that genetic counselors can use to identify people who are most likely to need guidance and support.

Studies of the impact of diagnostic testing on affected people have not shown negative effects on long-term well-being beyond those caused by the diagnosis itself (Vansenne et al. 2009; Ingles et al. 2012; Hickey et al. 2014). People who had diagnostic testing reported that they expected clear answers from genetic results and had difficulty recalling the implications of uncertain results, highlighting the need for genetic counselors to clarify expectations and facilitate clear communication of results (Burns et al. 2017). People with anxiety and depression are more likely to perceive barriers to communicating results with their families (Burns et al. 2016).

Studies on the impact of predictive genetic testing among at-risk family members have also indicated that, beyond some initial distress, for most people it does not cause serious or prolonged distress, regardless of the result (Hoedemaekers et al. 2007; Christiaans et al. 2009; Ingles et al. 2012; Oliveri et al. 2018). Over the long term, most people report a relative decrease in distress after testing, with this response being understandably larger and more rapid in people who receive negative results from predictive testing (Broadstock et al. 2000; Hendriks et al. 2008; Christiaans et al. 2009; Oliveri et al. 2018). These findings are consistent with the literature on genetic testing for treatable conditions as a whole (Broadstock et al. 2000; Oliveri et al. 2018). There is also evidence that some of this lack of perceived effect is driven by threat minimization or denial, which are coping strategies that people use to maintain a sense of control (Broadstock et al. 2000). Careful assessment and counseling can help people identify ways to adapt to the situation in a more realistic and sustainable way. It should be noted that ascertainment is an issue for most of these studies, and there is some evidence that people who seek predictive genetic testing may be more resilient than others (Broadstock et al. 2000).

Other factors such as the presence of symptoms, medically indicated lifestyle changes, and pretest emotional or mental health status correlate better with measures of distress than the outcome of genetic testing (Broadstock et al. 2000; Hendriks et al. 2008; Christiaans et al. 2009; Bonner et al. 2018; Oliveri et al. 2018). However, there appears to be a subset of people who experience significant distress from predictive test results (Heshka et al. 2008; Bonner et al. 2018). Correlates of distress include having felt pressured to get the test, not being emotionally prepared, perceiving oneself to be at high risk for a severe condition, and lack of social support (Christiaans et al. 2009; Bonner et al. 2018). Across all ages, findings support the importance of feeling certain and in control for adaptation (Meulenkamp et al. 2008; MacLeod et al. 2014). This is further explored below.

Studies indicate that different considerations are prompted by tests done during different life stages. In adolescents and young people, as seen in other populations, test results do not directly correlate with emotional outcomes (Godino et al. 2016). Those who have had predictive testing report that, even if it caused short-term distress, it was empowering if they felt it increased their sense of control over the course of future events (MacLeod et al. 2014). Young people report that lack of emotional experience made it difficult for them to foresee how the news might impact them, reinforcing the need for ongoing support as their reactions unfold, as they begin to disclose the results, and at new life stages when more implications of the result become clear (MacLeod et al. 2014). Especially for those who live with their parents, family dynamics may also play a larger role for young people in the forms of family pressure, worries about how their result will impact others, or because living with an affected parent contributes to their perception of the condition (Geelen et al. 2011; Godino et al. 2016).

Genetic testing of minors can be considered for inherited cardiovascular diseases, given the possibility for childhood onset and the availability of treatment. Most studies indicate that children cope effectively with the knowledge of being at-risk for a genetic condition and report similar quality of life to peers or their baseline emotional state (Meulenkamp et al. 2008; Wakefield et al. 2016). Children may worry more if they identify with a family member who has died or experienced serious consequences from the condition or worry more about the health of a parent who has had positive genetic testing even if they do not perceive themselves to be at risk (Meulenkamp et al. 2008; Wakefield et al. 2016). Other sources of distress include forgetting to take medication, parental worry, and feeling different from peers or being bullied (Meulenkamp et al. 2008). Worry may be expressed in subtle or avoidant ways, such as looking away, changing the subject, or making jokes (Meulenkamp et al. 2008). During a time of life in which much is out of their control already, children seem to rely on markers of vicarious control by expressing confidence in medication or the medical profession or by responding to the differences between their situation and those of an affected relative (Meulenkamp et al. 2008). Of note, positive predictive genetic test results may have more impact on parents, with a longitudinal study showing that 30% of parents of children who have tested positive for Long QT had clinically significant levels of long term distress (Hendriks et al. 2005, 2008). Parents also report more worry for their children than themselves and may have inflated perceptions of adverse psychological impact on their children (Smets et al. 2008; Burns et al. 2017).

INTERPRETING THE TEST RESULT

The uncertainty that sometimes accompanies genetic test results can contribute to the confusion and distress that patients may experience. The American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) guidelines for variant interpretation provide a scoring system to structure and standardize the process, but application of the criteria requires clinical judgement (Richards et al. 2015). The inherent difficulty of variant classification is reflected in discrepant classifications between laboratories that persist despite efforts to resolve discordance (Rehm et al. 2015; Amendola et al. 2016; Balmaña et al. 2016; Garber et al. 2016; Furqan et al. 2017; Harrison et al. 2017; Yang et al. 2017). Expert panels continue to refine the ACMG-AMP guidelines for various disease areas through ClinGen expert panels funded by the National Institutes of Health (NIH), but much work remains (Rehm et al. 2015; Kelly et al. 2018; Renard et al. 2018).

There is some evidence that cardiovascular genetics is an area of particularly high discordance (Balmaña et al. 2016; Harrison et al. 2017; Yang et al. 2017). This has led the majority of cardiovascular genetic counselors to perform independent variant assessments, most frequently by using resources such as PubMed, ClinVar, gene or disease-specific databases, allele frequency databases, or searching for additional case data by other means (Reuter et al. 2018). Clinicians tend to require a higher degree of certainty than laboratories to classify a result pathogenic or likely pathogenic, the categories suitable for use in predictive testing (Bland et al. 2018).

Genetic and condition-specific expertise are critical at all stages of interpreting results, including assessing the genes being tested, because large panels frequently include genes with limited clinical validity (Hosseini et al. 2018; Ingles et al. 2019). At the variant level, interpretation challenges include the lack of condition-specific population frequency thresholds to establish when a variant is insufficiently rare to be considered pathogenic. Accurate assessment of population frequency is also compounded by the lack of diverse ancestral representation in population data sets (Manrai et al. 2016; Popejoy et al. 2018). Variant interpretation processes and resources are rapidly evolving, so patients should be made aware of the need for periodic follow-up with a genetic counselor for reassessment of their test results (Das K et al. 2014).

MAXIMIZING THE VALUE OF CARDIOVASCULAR GENETIC COUNSELING

As reflected in coping theory and the genetic testing literature, a person's sense of certainty and control is an important influence on their willingness to engage with the implications of testing and their level of distress about the results (McConkie-Rosell and Sullivan 1999). Genetic counselors can increase perceptions of control in numerous ways throughout the visit, starting with a psychological assessment that gives the patient a chance to voice their needs and provides information to the counselor about the person's baseline emotional state, family dynamics, and the significance they attribute possible test results. This valuable context enables genetic counselors to use their clinical judgement to tailor information to the patient's needs by deferring, shortening, or omitting less relevant information. A sense of control is also created by engaging people in a two-way educational process and prompting people to apply biomedical information to their own lives rather than presenting information as a lecture.

The educational goals during genetic test result disclosure include communicating (a) the impact of a genetic test result on medical management, if applicable, (b) family screening recommendations, (c) whether predictive testing is available, and (d) if further steps are needed to clarify the results (Cirino et al. 2017). However, even if these topics are explained clearly, many of the desired outcomes depend on how well the practitioner understands and engages the patient.

Cascade screening depends on people effectively relaying the implications of the result to their relatives. As noted in the literature, it is common for people to have unrealistic expectations about testing and to misconstrue the meaning of results, particularly uncertain results, in a way that underrepresents familial risk (Burns et al. 2017). The influence of family dynamics on screening and testing behavior also means that it is important to help people process the results in a way that will lead them to positively influence others. Studies of genetic counselor communication patterns have found that almost 60% of genetic counselors communicate in “teaching” styles characterized by high verbal dominance and that only ∼4% of counselor speech is targeted at helping the patient to apply the information to their own lives (Roter et al. 2006; Ellington et al. 2011). It has also been reported that the majority of counselors’ empathic statements tend to be slanted toward negative emotions even when the patient expresses mostly positive emotion (Ellington et al. 2011). In contrast, communication styles that draw out more psychological content and more patient speech lead to higher satisfaction and promote both cognitive and emotional processing (Roter et al. 2006; Ellington et al. 2011). Further, adaptive behavior is facilitated by eliciting patient dialogue that builds motivation for change (Ash 2017).

Promoting Adaptive Coping and Behavior

A patient-centered approach requires that the genetic counselor focus on understanding and working with the state of the patient. These goals include (a) eliciting the person's ideas and expectations about testing, (b) understanding their motivations and concerns, (c) assessing factors likely to influence perceptions of the results, (d) identifying emotional states that the test results may alleviate or exacerbate, (e) guiding decision-making about whether to do the test and timing of testing, and (f) helping the person make meaning of the result, and take appropriate action.

As genetic counselors develop their psychological counseling skills, common concerns include discomfort with asking about personal matters, uncertainty about how to phrase questions, fear of a negative patient response, or not knowing how to respond if the person does choose to share difficult experiences or emotions (Borders et al. 2006; Shugar 2017). As counselors progress in their careers, there is also the concern that these conversations might be too time consuming. These concerns are addressed by approaching psychological counseling in a systematic way, such as using a counseling framework to guide the session.

Psychological counseling can be learned by the same structured methods used for developing other clinical skills. For example, genetic counseling trainees learn to take a family history by first memorizing specific questions to ask, and then gradually progress to a more fluid, tailored approach as they learn more about genetic conditions. Developmentally, it has been noted that trainees tend to conceptualize psychological counseling as something they can “do” through rote application of a learned technique (Shugar 2017). Starting with a framework supports people as they gain the clinical experience that leads to sound judgement over time so they can progress from “doing” psychological behaviors to a state of “being” psychologically engaged with their patient. Below, the BATHE method is used as an example framework to model one approach of structuring a psychological assessment.

Using a Counseling Framework: an Example of the BATHE Psychological Assessment

An optimal approach to the psychological aspects of a cardiovascular counseling session is flexible enough to allow a practitioner to conduct a brief assessment or spend a longer time building a deeper relationship. It provides a balance between phrasing that is not invasive but also does not gloss over or shy away from pertinent issues. It also provides a structure that is concrete enough for a beginner to grasp easily and fluid enough for a seasoned practitioner to use without feeling constrained.

Originally developed as a brief screen for primary care physicians, the BATHE method is a framework that summarizes the core elements of a psychological assessment (Lieberman and Stuart 1999). The BATHE acronym refers to the following elements: Background, Affect, Trouble, Handling, Empathy (Table 2). It has been shown to improve patient satisfaction with physician encounters without significantly increasing a 15-min visit time (Leiblum et al. 2008; De Maria et al. 2010, 2011; Kim et al. 2012; Pace et al. 2017).

Table 2.

The BATHE method of psychological assessment

Background

Elicit context of the person's life outside of the indication for the visit.

“Outside of this, what is going on in your life?”

Affect

Elicit psychosocial impact of the condition, visit, or other topic.

“How does that affect your quality of life?”

Trouble

Elicit patient's concerns.

“What troubles you the most about this?”

Handling

Assess how the patient is coping with the topic.

“How are you handling that?”

Empathy

Give an empathetic response, preferably in the form of a reflective statement.

“You're worried.” “It's difficult.” etc.

Data adapted from Lieberman and Stuart 1999.

Although it was designed as a psychological screen, BATHE can easily be adapted to specific situations. A key feature is that the method does not require psychological hypothesis testing by the clinician. Rather, it is a patient-led method that can be used to assess the person's concerns in a way that builds the clinical experience and judgement of the practitioner, while it is supplemented by other counseling skills over time. If used without modification, as a sequence of four questions and an empathic response, it can feel somewhat stilted. This can be counteracted by interspersing the questions with reflective and empathic responses to encourage elaboration. By adding a few basic counseling skills, such as reflection statements, the BATHE questions can be expanded into a concise, information-rich, and empathic brief interview (Table 3).

Table 3.

An empathic interviewing style of BATHE-guided psychological assessment

GC: How has thinking about testing been affecting your quality of life?	Affect
P: Well, not that much. I think I want to know. I'm not sure. I mean, I'd want to know if it's good news…	Affect
GC: You have mixed feelings.	Reflection
P: Yes, I have been going back and forth, but I decided that now is the time.	Affect
GC: What bothers you the most when you think about the test?	Trouble
P: I've been a big part of my father's care and it's been hard seeing what he's gone through. I don't want to think that I might have to face something similar.	Trouble
GC: It's been hard.	Reflection
P: Yeah, I've spent a lot of time in this hospital. It's a little stressful to be here now.	Affect
GC: How do you handle your stress?	Handling
P: I spend a lot of time at the gym. It really grounds me. And my family, we're really close, so that helps.
GC: And what else is going on in your life that might influence how this is for you?	Background
P: Well, I'm here now because I'm starting to think about having kids, so now I have a reason.	Background
GC: You're thinking about the next generation.	Reflection
P: Yeah, it's not just about me now, you know.

When there is more time, or with people in psychological distress, it can also be used as a framework to guide an in-depth discussion by using an empathic conversational style (Table 4). For example, an experienced genetic counselor can use it as a mental checklist of points that can be reordered and expanded in a more fluid and natural discussion of the patient's concerns. An empathic conversational style intersperses questions with reflection and empathic statements. This style is more patient-led than the interviewing styles and uses more reflection statements to demonstrate empathy and draw out patient speech.

Table 4.

An empathic conversational style of BATHE-guided psychological assessment

Patient: I've been so anxious waiting for this appointment.	Affect
GC: You've been anxious.	Reflection
P: Yes, I've been having symptoms, but I don't know if they're serious or not.	Trouble
GC: It's felt uncertain.	Reflection
P: I don't deal well with uncertainty. I know I'm at risk because of my brother, and 1 just want to know what's going on.	Trouble
GC: The uncertainty really bothers you.	Reflection
P: Yes, it does! I like to know the facts so I can make a plan.	Affect, handling
GC: Knowing what you're dealing with would feel better.	Reflection
P: Yes.
GC: And what else is going on in your life that might influence how this is for you?	Background
P: Well, I'm thinking about getting a new job, but I don't want my insurance to lapse if this ends up being serious.	Background

The BATHE framework can also be supplemented with an assessment tailored to the clinical context. For example, for a person considering predictive testing, appropriate questions might assess motivations for testing, their experience with the condition, family dynamics and pressure, baseline emotional state, and hopes and expectations for the results. As long as the clinician varies the wording of the questions slightly each time, the BATHE elements of affect, trouble, and handling can be used repeatedly to understand each subtopic in greater detail.

The structure can also be used to guide disclosure of a genetic result. Eliciting information about any changes in the patient's life (reassessing the background element) alerts a genetic counselor to new life stressors or changes in the person's thoughts or emotions. This is generally quick; however, at times new context greatly influences how the disclosure is framed. For example, a serious medical event or news about a new job or pregnancy can drastically change a person's state of mind between sessions.

During the disclosure session there are a number of ways to encourage someone to apply information and recommendations to their own life. One generalizable method is to make a high-level statement and prompt feedback by asking “What do you think when I say that?” or “So when you hear these recommendations, how do you think it might work in your family?” Further education then becomes interactive. It also makes discussions about interpersonal or logistical barriers feel more like shared problem-solving rather than unsolicited advice.

When disclosing genetic testing results that are perceived as good news by the patient, clinical judgment dictates use of the BATHE elements. For example, if the person has a purely positive reaction to negative predictive test results, assessing what troubles them may be unnecessary and awkward. It can still be helpful, however, to address the Handling topic in a conversational way by asking them whom they plan to tell first or how they think others will react. If there are indications of survival guilt or other mixed feelings, a softened version of the Trouble question can be used, such as, “Is there any part of you that has mixed feelings about the result?”

When giving unwanted news, the trouble and handling elements are clearly relevant. Eliciting a person's thoughts and feelings about what troubles them allows the genetic counselor to bear witness to their reaction and facilitate emotional processing. Transitioning to the topic of Handling, when appropriate, leads to the opportunity to reinforce existing coping methods or to elicit unrecognized strengths and resilience factors. Rather than using the retrospective, “How have you handled situations in the past?” or the present tense “How are you handling this?” recommended by the standard BATHE method, it can also be phrased as “How will you handle this?” Use of future tense language engages the person in visualizing concrete future behavior.

It is important to tailor the emphasis and time spent on these topics to the needs of the patient. For example, it is often appropriate to allow a distressed person to focus more on the troubling aspects of the situation before gently introducing the topic of handling. Aligning with the patient's state of mind avoids seeming dismissive of their reaction and builds trust so that the genetic counselor can act as a guide toward adaptive thoughts and behaviors over time.

CONCLUDING REMARKS

Although this work references literature and uses examples from inherited cardiovascular conditions, these methods can be generalized to other settings. Despite the challenges of communicating technical information, using a counseling framework such as the BATHE method provides a structure that can be adapted to the needs of each genetic counseling session. Psychological counseling increases the impact of education and allows genetic counselors to better help people understand information, guide them to make decisions about their care that fit their needs and values, and promote their well-being as they move forward in their lives.