Context Of Genetic Counseling Research Articles

Narrative therapy and family therapy in genetic counseling: Ascoping review.

Genetic counseling facilitates psychological and social adaptation in clients and families. Two psychotherapeutic approaches, narrative and family therapy foster client adaptation to adverse situations and may enhance the genetic counseling process. This scoping review aimed to describe the applications of narrative therapy and family therapy in genetic counseling, and to document the actual and perceived value of these approaches in a genetic counseling setting. Nine original research articles and six commentary articles met the study inclusion criteria. Original articles reported on positive client attitudes when these approaches were applied to hereditary cancer and Huntington disease settings. Five studies applied either approach in group sessions, where safety was key to positive outcomes, including sharing lived experiences and coping strategies. Balanced utilization of structured and open elements in group sessions maximized a sense of control, while also allowing for opportunity to self-disclose. Narrative therapy interventions were time efficient and were reported to foster connection with others and shape a new adaptive narrative centered around strengths. Family therapy approaches, based on experiential family therapy, the intersystem model, object relations family therapy, and the social ecology model, required a greater time commitment, but promoted disclosure of complex feelings and diffused tension. Family therapy genogram tools were feasible in practice, easy to implement, and effective at identifying communication barriers. Commentary articles highlighted the alignment of both approaches with genetic counseling goals and their potential value in practice. Utilization of psychotherapeutic approaches can improve counselors' ability to shape sessions, enhance insight and optimize efficacy, and flexibility in moving between models can maximize impact. This review highlights the paucity of studies investigating the efficacy of these psychotherapeutic approaches in the genetic counseling context and the need for more outcomes-based research on the utilization of narrative or family therapy in genetic counseling practice.

Measuring the therapeutic bond in genetic counseling: Testing measurement error in the bond subscale of the Working Alliance Inventory.

The therapeutic relationship is a key component of successful genetic counseling. In psychotherapy, a strong therapeutic relationship can improve patient health outcomes and a poor relationship can worsen psychological functioning. Investigation of the therapeutic relationship in genetic counseling has shown evidence for a similar pattern. Reliable measurement of the therapeutic relationship is necessary for consistency across studies in the genetic counseling context. One measure that has been adapted for use in genetic counseling is the Working Alliance Inventory (WAI). However, there have been no studies of the factor structure or item-level method bias analyses for the genetic counseling-adapted version of the WAI. The goal of this study was to test the factor structure of the WAI observer version (WAI-O) bond subscale and assess method bias in a genetic counseling context. We hypothesized that differences in factor structures would exist for items that were positively (n = 9) versus negatively (n = 3) worded (reverse coded). Secondary data analysis was performed on two data sets that utilized the WAI-O in genetic counseling contexts. Data set 1 used simulated genetic counseling sessions that were judged by analog clients recruited through crowdsourcing platforms (N = 861). Data set 2 was conducted with genetic counseling clients, and sessions were evaluated by a research team (N = 120). Principal axis factor analysis with oblique oblimin rotation supported a two-factor solution for the WAI-O bond subscale across data sets. Items factored based on wording, with the positively worded items loading together and the negatively worded items loading on the second factor. Confirmatory factor analyses supported the removal of all negatively worded items from the instrument across data sets. Results suggest that the negatively worded items on the WAI-O may be capturing a construct inconsistent with the positively worded items and support rewording and/or excluding them from use for a more reliable measure of the therapeutic bond.

Breast/ovarian cancer genetic counseling: Do anxiety, depression, and health care-related fears influence cancer worry and risk perception?

The impact of family and personal cancer history and emotional factors, such as depression and anxiety, on disease representation has received limited attention in studies investigating the development of cancer-related worry and risk perception within the context of genetic counseling. The current study endeavors to fill this gap by exploring the extent to which depression and anxiety influence cancer worry and risk perception, and the role of health care-related fear as potential mediator in this relationship. A sample of 178 women who underwent their first genetic counseling for breast/ovarian cancer, 52% of whom had previous cancer diagnoses, completed questionnaires assessing sociodemographic and clinical information, emotional distress in terms of anxiety and depression, cancer-related worry, risk perception, and health care-related fears. Results of mediation analyses showed that cancer-related worry and risk perception increased with rising levels of depression and anxiety, with health care-related fears acting as a mediator in the relationship of depression and anxiety with cancer worry and risk perception. Covariate analysis revealed that previous cancer diagnosis increases cancer-related worry but not risk perception, while the number of family members affected by cancer increases both outcomes. These findings emphasize the need for a holistic approach in genetic counseling and have implications for the clinical practice.

Effective communication in the era of precision medicine: A pilot intervention with low health literacy patients to improve genetic counseling communication

Effective communication, where all parties share a common understanding, is necessary to realize the promise of Genomic Medicine. It is especially salient given the imperative to increase the participation of diverse populations in genomics research and to expand the reach of clinical genomics. We have previously shown that cancer genetic counseling is suboptimal for patients with limited health literacy. To address this finding, we implemented a pilot study to improve verbal communication between genetic counselors and their patients of limited health literacy that consisted of: i) curriculum development and delivery of a Genetic Counselors (GC) communication workshop; ii) two-month post-workshop interviews with GC participants (n = 9); iii) observations/audio recordings of counseling sessions involving 24 patients and two GC workshop participants; iv) post-counseling interviews with patients (n = 9). The 4.5-h workshop presented evidenced-based principles and strategies for effective communication with limited health literacy patients (e.g. use of plain language and teach-back), and offered specific techniques and exercises to practice adoption of such practices in the genetic counseling context. GCs expressed appreciation for the opportunity to refine their skills; however, they reported that some strategies were challenging given their professional training and communication habits. For example, GCs were concerned that use of plain language could undermine efforts to obtain informed consent and provide scientifically accurate information. Observations and patient interviews after the workshop revealed that GCs were able to employ the communication strategies with positive effects, with patients indicating sufficient understanding of the genetic test and its implications as well as satisfaction with the counselors’ communication. While derived from research on communication with those of limited health literacy, the communication approaches taught in the GC workshop could benefit most patients, given the high rates of low health literacy in many countries, and the many factors beyond health literacy that can contribute to reduced comprehension in health care environments.

The Cancer Worry Scale Revised for Breast Cancer Genetic Counseling.

The Cancer Worry Scale was revised to be used in breast cancer genetic counseling (CWS-GC). This scale is used to identify dimensions that are relevant in the genetic counseling context, such as worry about developing breast cancer, impact of worries on daily life, and risk perception in women attending a counseling session for BRCA1/2 mutations. The aim of this study was to estimate the psychometric properties of the CWS-GC in a sample of Italian women. A total of 304 women aged 19 to 90 years, 58% with history and 42% with no history of breast or ovarian cancer, participated in the study. Validity, reliability, and sensitivity to change of the CWS-GC were assessed. Confirmatory factor analysis suggested a 2-factor structure of the CWS-GC measuring cancer worry and risk perception and with Cronbach's α coefficients of .90 and .70, respectively. Criterion validity was attested by substantial yet not overlapping correlations with anxiety and fear of medical procedures. In a subsample of 50 women, test-retest reliability at a 4-week interval ranged from 0.70 to 0.87, and the CWS-GC was able to detect small to medium changes 1 month after genetic counseling. Overall, the CWS-GC showed good psychometric characteristics in this population. The CWS-GC would be appropriate for use by healthcare professionals to better understand how women react and adapt to information on genetic cancer risk to provide them with emotional support and encourage surveillance behaviors.

Effective Cancer Risk Communication to Prevent Disparities in the Era of Precision Medicine

Abstract As genetics and genomics become part of mainstream Medicine, these advances have the potential to reduce or exacerbate health disparities. Gaps in effective communication (where all parties share the same meaning) are widely recognized as a major contributor to health disparities. The purpose of this study was to examine cancer genetic counselor-patient communication, to assess its effectiveness from the patient perspective, and to pilot intervention strategies to improve it. We used multiple inductive methods, including standard ethnographic techniques to systematically observe and audio-record genetic counseling sessions, and qualitative interviews with observed patients using the audio recordings to stimulate recall and probe specific aspects of the communication. Data analyses were conducted using grounded theory. We observed 64 English-, 35 Spanish- and 25 Cantonese- speaking public hospital patients (n = 124) and 10 Genetic Counselors in 170 appointments, and interviewed 49 patients who had been offered testing. We identified a fundamental mismatch between the information provided by genetic counselors and the information desired and meaningful to patients. Several components of the communication that contributed to this mismatch and often resulted in ineffective communication included: (1) too much information; (2) complex terminology and conceptually difficult presentation of information; (3) information perceived as not relevant by the patient; (4) unintentional inhibition of patient engagement and question-asking; (5) vague discussions of screening and prevention recommendations. To address these communication barriers, we adapted from other fields of Medicine to the genetic counseling context and pilot tested evidence-based strategies for effective communication with limited literacy patients. Our findings indicate a need to transform the standard model of hereditary cancer risk communication. The increasing access of diverse populations to genetic services, high rates of limited health literacy in the US, and growing complexity of genetic information have created a perfect storm. If not directly addressed, this convergence can be expected to exacerbate health disparities in the genomic age.

Counselling uncertainty: genetics professionals’ accounts of (non)directiveness and trust/distrust

In genetic counselling, uncertainty is central to the client–professional relationship where decisions are made on the basis of risk information/assessment. For various historical reasons, genetic counsellors adopt an ethos of ‘nondirectiveness’ to communicate risk and offer support without advising their clients on what decisions to reach. However, nondirectiveness remains an ambiguous and contested concept that has acquired a negative meaning of ‘not influencing clients’ or ‘adopting an indifferent stance’. We argue that nondirectiveness also implies a positive sense of acknowledging genetic counselling as a process of influence. Drawing on interview data (n = 25) involving professionals from England and South Wales (UK), accounts of genetic testing indicate a dynamic relationship between managing uncertainty on the one hand and negotiating trust and distrust on the other. In the counselling process, trusting and distrusting are coexisting techniques of assessing clients’ motivations, expectations and reasons for genetic testing. Using rhetorical discourse analysis as our analytical approach, we identify a pattern of accounting whereby professionals justify a directive stance when they are not confident whether clients have considered the uncertainty of the situation. More than a veneer of neutrality and indifference, we argue that nondirectiveness is a technique by which genetics professionals explore whether clients can be trusted to make autonomous decisions within a climate of uncertainty. Eliciting confidence and establishing trust within the context of genetic counselling are enabling, pastoral strategies for configuring risk and emotion.

Genetic Counseling and the Ethical Issues Around Direct to Consumer Genetic Testing

Over the last several years, direct to consumer(DTC) genetic testing has received increasing attention in the public, healthcare and academic realms. DTC genetic testing companies face considerable criticism and scepticism,particularly from the medical and genetic counseling community. This raises the question of what specific aspects of DTC genetic testing provoke concerns, and conversely,promises, for genetic counselors. This paper addresses this question by exploring DTC genetic testing through an ethic allens. By considering the fundamental ethical approaches influencing genetic counseling (the ethic of care and principle-based ethics) we highlight the specific ethical concerns raised by DTC genetic testing companies. Ultimately,when considering the ethics of DTC testing in a genetic counseling context, we should think of it as a balancing act. We need careful and detailed consideration of the risks and troubling aspects of such testing, as well as the potentially beneficial direct and indirect impacts of the increased availability of DTC genetic testing. As a result it is essential that genetic counselors stay informed and involved in the ongoing debate about DTC genetic testing and DTC companies. Doing so will ensure that the ethical theories and principles fundamental to the profession of genetic counseling are promoted not just in traditional counseling sessions,but also on a broader level. Ultimately this will help ensure that the public enjoys the benefits of an increasingly genetic based healthcare system.

A follow‐up study on men tested for BRCA1/BRCA2 mutations: impacts and coping processes

The objective of this study was to examine cognitive, emotional, and behavioral impacts of testing for germline mutations in breast/ovarian cancer-associated genes (BRCA1/BRCA2) among men who undergo genetic testing. A cross-sectional study compared 51 mutation carriers with 30 men who tested negative for the mutations in both genes. Telephone interviews were conducted with all participants at a median of 4 years after disclosure of test results in a genetic counseling context. Testing-related distress, cancer risk perceptions, perceived behavioral changes following testing, and perceptions of breast cancer were measured using standard questionnaires. Up to 4 years postgenetic testing, 48% of those who tested positively report that the test increased their perceptions of risk, and 74% of them increased surveillance for cancer. Men who had been tested as non-carriers did not report increased perceived risk (0%) and relatively few increased surveillance (31%). Carriers were significantly more distressed from testing, perceived breast cancer as having less consequences and emotional effects on the patient, and as being more treatable than non-carriers. These results have implications with regard to the Self Regulatory Theory. They show that (i) illness representations are affected by fear-arousing health information; (ii) risk perceptions elicit health behaviors; and (iii) men tested for BRCA mutations have specific concerns that should be attended to.

Examination of standardized patient performance: Accuracy and consistency of six standardized patients over time

ObjectiveTo explore the accuracy and consistency of standardized patient (SP) performance in the context of routine genetic counseling, focusing on elements beyond scripted case items including general communication style and affective demeanor. MethodsOne hundred seventy-seven genetic counselors were randomly assigned to counsel one of six SPs. Videotapes and transcripts of the sessions were analyzed to assess consistency of performance across four dimensions. ResultsAccuracy of script item presentation was high; 91% and 89% in the prenatal and cancer cases. However, there were statistically significant differences among SPs in the accuracy of presentation, general communication style, and some aspects of affective presentation. All SPs were rated as presenting with similarly high levels of realism. SP performance over time was generally consistent, with some small but statistically significant differences. Conclusion and practice implicationsThese findings demonstrate that well-trained SPs can not only perform the factual elements of a case with high degrees of accuracy and realism; but they can also maintain sufficient levels of uniformity in general communication style and affective demeanor over time to support their use in even the demanding context of genetic counseling. Results indicate a need for an additional focus in training on consistency between different SPs.

Assessment of Psychosocial Outcomes in Genetic Counseling Research: An Overview of Available Measurement Scales

The aim of the present paper was to describe and evaluate many of the measurement scales currently used in genetic counseling outcomes research. A team of three researchers reviewed the available literature and selected a variety of validated instruments suitable for measurement of genetic counseling outcomes. There are numerous scales to assess each of the following outcomes among counselees: satisfaction with genetic counseling; knowledge; decision-making; psychological adjustment; coping; perceived personal control; perceptions of disease risk; and family communication about genetic risk. However, the strengths and limitations inherent to each instrument warrant careful consideration prior to implementation. In the genetic counseling context, scale selection should be undertaken with thought directed towards the characteristics of the research sample (e.g. levels of literacy, culture, medical condition), the practicalities of the research setting (e.g. available funding and resources, time restrictions, researcher expertise), the purpose of the research (i.e. the specific aspect of the genetic counseling experience to be studied), and the science underlying the scale (e.g. theoretical framework, psychometric properties).

Suicide prevention in the genetic counseling context

Utilizing a case report, this paper explores psychosocial aspects of suicidal intent in a woman seeking prenatal diagnosis. Using knowledge and practice of appropriate assessment, referral, and intervention procedures, the therapy team of genetic counselor and psychotherapist facilitated successful identification and management of this potentially suicidal client. The main counseling goals for the genetic counselor are to assess the situation adequately, decrease the immediate danger, and, with supervision and/or consultation, stabilize the seriously suicidal person until that individual can be triaged to mental health or medical professionals for treatment. The prevalence of suicide issues in genetic counseling contexts is unknown and reports mentioning suicidal ideation unusual in the genetic counseling literature. Is this reported case a rarity among genetic counseling referrals? Systematically collected information on the prevalence and resolution of suicidal issues in genetic counseling contexts would be helpful for those setting curricula for genetic counseling training programs, standards for professional certification exams, and policy and procedures manuals for clinical units.