Genetic Counseling Sessions Research Articles

“Unfortunately, we couldn’t reach a definitive diagnosis”: the interactional management of uncertainty in genetic counseling

This paper examines how participants in genetic counseling sessions interactionally manage situations where the results of tests to investigate the causes of identified fetal malformations are inconclusive or missing. The dataset consists of 54 audio-recorded interactions at a unit specialized in moderate- and high-risk pregnancies at a Brazilian public hospital. Conversation analysis was used to examine the data, revealing that the participants deployed interactional actions that exhibited highly negative valence toward diagnostic inconclusiveness, demonstrating that when there is a motivation for a medical examination, insofar as its results will serve as a basis for subsequent decision-making (in this case about future pregnancies), there is a preference for bad diagnostic news over absent or inconclusive diagnostic news. These findings are consistent with prior interactional studies.

Prenatal Screening of Chromosomal Anomalies Using Genome-Wide or Target Cell-Free DNA: Preferences and Satisfaction of Pregnant Women.

Background/Objectives: Cell-free DNA (cfDNA) is a non-invasive prenatal test used to screen for common trisomies (target cfDNA) that can be expanded to assess all autosomal chromosomes (genome-wide cfDNA). As cfDNA testing gains popularity, it is crucial to examine the factors influencing the decision-making process of pregnant individuals when choosing between these two approaches. Methods: In this prospective cohort study, 190 individuals undergoing cfDNA testing for aneuploidy screening, according to the current screening protocol, were allowed to make their own choice between target and genome-wide cfDNA testing. They were asked to complete a first survey at 11-13 weeks, designed to explore their characteristics, preferences, and satisfaction with the prenatal genetic counseling session, as well as a Decisional Conflict Scale. A postnatal survey was administered three months after delivery, including the Decisional Regret Scale and two open questions. Results: 84% of participants opted for genome-wide cfDNA. However, 17% found the decision challenging, and 14% felt that the results might increase anxiety. No significant differences in participant characteristics were found when comparing decisions between genome-wide and target cfDNA. However, significant differences were observed regarding ethnicity (p = <0.001), educational level (p = 0.029), previous cfDNA experience (p = 0.004), and having sufficient information when comparing termination options (p = 0.002). After delivery, only 4% would have changed their decision. Conclusions: Individuals, regardless of their characteristics, prefer genome-wide cfDNA; however, the complexity of the results necessitates enhanced genetic education for prenatal care clinicians.

Cultural, demographic, and other non-demographic factors associated with cancer genetic counseling patients' appointment accompaniment preferences in the United States.

Although the presence of companion(s) in a genetic counseling session can positively influence session dynamics, research has found that some patients prefer to attend their appointments alone. To date, no studies have examined patient accompaniment preferences across different cultural groups in the context of genetic counseling. This quantitative study aimed to identify factors associated with individual preferences in accompaniment at cancer genetic counseling appointments in a sample (N = 130) of Hispanic/Latine (n = 29) and non-Hispanic/Latine White (n = 101) participants at a large academic medical institution. Variables examined included demographics, horizontal and vertical collectivism, and Hispanic and American acculturation. A link to an online questionnaire was emailed to patients who met four criteria: (1) identified as either Hispanic/Latine or non-Hispanic/Latine White; (2) had attended a cancer genetic counseling appointment at UCLA Health to discuss genetic testing options between October 2020 and December 2022; (3) were at least 18 years of age at the time of their appointment; and (4) indicated they were comfortable reading in Spanish or English; responses were anonymous. Logistic regression analyses identified four significant variables in the model associated with accompaniment preferences: individuals with at least one parent born outside of the US, those who attended their appointment in-person, and those with a higher horizontal collectivism score were less likely to want to attend their cancer genetic counseling appointment alone, while the converse was true among those with a higher American acculturation score. These findings highlight cultural and demographic factors that are associated with patient accompaniment preferences unrelated to ethnicity, indicating genetic counselors should not make assumptions regarding accompaniment preferences based solely on cultural or racial/ethnic background. Genetic counselors should incorporate this understanding when assessing patients' accompaniment preferences.

Linking genetic counseling communication skills to patient outcomes and experiences using a community-engagement and provider-engagement approach: research protocol for the GC-PRO mixed methods sequential explanatory study

IntroductionIn over 50 years since the genetic counseling (GC) profession began, a systematic study of GC communication skills and patient-reported outcomes in actual sessions across multiple clinical specialties has never...

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.

Implementing mainstream genetic counseling within the area-wide network of the German Consortium Hereditary Breast and Ovarian Cancer (GC-HBOC): Satisfaction of primary care providers with the provided state-of-the-art training by the Cologne Center.

The German Cancer Society (Deutsche Krebsgesellschaft DKG) has published a position paper to address the challenges of cancer patient care in the era of genomic medicine. The German Consortium Hereditary Breast and Ovarian Cancer (GC-HBOC) has implemented this recommendation in its care concept for families at risk. Core elements are the outcome-oriented evaluation of structured and standardized clinical measures and reporting recommendations derived therefrom to primary care providers and patients. A cross-sector network with certified breast cancer and gynecological cancer centers was founded in 2015, starting from the Cologne Center of the GC-HBOC. To guarantee the knowledge transfer for mainstream genetic counseling, the Cologne center has established an educational program for physicians and specialized nurses in order to pilot trans-sectoral knowledge transfer on risk assessment and risk-stratified care. It consists of face-to-face lectures with written knowledge test, attending a genetic case conference and genetic counseling sessions with the opportunity to counsel under supervision. The lectures were accompanied by a structured evaluation of the participants' satisfaction and feedback of the needs in mainstream genetic counseling. Thereby, the network ensures that genetic counseling and testing is provided according to state-of-the-art knowledge and allows physicians to participate in knowledge-generating care outside the university setting and patients to receive care close to home. After multiple feedback cycles to improve the educational program, the GC-HBOC, in cooperation with the German Cancer Society, has now adopted this concept and developed a common and uniform online curriculum funded by the Federal Ministry of Health. https://www.krebsgesellschaft.de/fortbildung-familiaerer-krebs.html.

Streamlining the diagnostic pathway for Lynch syndrome in colorectal cancer patients: a 10-year experience in a single Italian Cancer Center.

Universal screening of colorectal cancer (CRC) patients for Lynch syndrome (LS) through MisMatch Repair (MMR) testing is recommended. BRAF V600E mutation and/or MLH1 promoter methylation (Reflex Testing, RefT)generally rule out LS in MLH1-deficient (dMLH1) patients. We estimated the impact of RefTon genetic counseling (GC) and on the diagnostic yield of genetic testing (GT). Overall, 3199 CRC patients were referred to our center between 2011 and 2021. Patients referred until January 2019 (n=2536) underwent universal MMR testing and were termed 'Cohort A'; among patients after February 2019 (n=663), 'Cohort B', RefT was also performed in dMLH1 patients. Overall, 401/3199 patients (12.5%) were MMR-deficient (dMMR); 312 (77.8%) in cohort A and 89 (22.2%) inB; 346/401 were dMLH1 (86.3%), 262/312 (83.9%) in cohort A and 84/89 (94.3%) in B. In Cohort A, 91/312 (29.1%) dMMR patients were referred to GC, 69/91 (75.8%) were in the dMLH1 group; 57/69 (82.6%) dMLH1 patients underwent GT and 1/57 (1.7%) had LS. In Cohort B, 3/84 dMLH1 patients did not undergo BRAF testing. Three BRAF wt and not hypermethylated of the remaining 81 dMLH1 patients were referred to GC and GT, and one had LS. This diagnostic pathway reduced GC referrals by 96% (78/81) in Cohort B and increased the diagnostic yield of GT by about 20 times. Our findings support RefT in dMLH1 CRC patients within the LS diagnostic pathway, as it reduces the number of GC sessions needed and increases the diagnostic yield of GT.

Development and utility of a clinical research informatics application for participant recruitment and workflow management for a return of results pilot trial in familial hypercholesterolemia in the Million Veteran Program.

The development of clinical research informatics tools and workflow processes associated with re-engaging biobank participants has become necessary as genomic repositories increasingly consider the return of actionable research results. Here we describe the development and utility of an informatics application for participant recruitment and enrollment management for the Veterans Affairs Million Veteran Program Return Of Actionable Results Study, a randomized controlled pilot trial returning individual genetic results associated with familial hypercholesterolemia. The application is developed in Python-Flask and was placed into production in November 2021. The application includes modules for chart review, medication reconciliation, participant contact and biospecimen logging, survey recording, randomization, and documentation of genetic counseling and result disclosure. Three primary users, a genetic counselor and two research coordinators, and 326 Veteran participants have been integrated into the system as of February 23, 2023. The application has successfully handled 3367 task requests involving greater than 95000 structured data points. Specifically, application users have recorded 326 chart reviews, 867 recruitment telephone calls, 158 telephone-based surveys, and 61 return of results genetic counseling sessions, among other available study tasks. The development of usable, customizable, and secure informatics tools will become increasingly important as large genomic repositories begin to return research results at scale. Our work provides a proof-of-concept for developing and using such tools to aid in managing the return of results process within a national biobank.

Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders.

Rare genetic disorders may result in death before a definitive clinical diagnosis is established. This study aims to outline the processes and challenges in managing, from a genetic perspective, couples who lost children affected by rare genetic disorders. Six couples who experienced child loss due to rare genetic disorders, seen by the primary author at genetic evaluation and counseling sessions, were retrospectively analyzed. Four out of 6 couples reported consanguinity. Exome and genome sequencing were performed for the parents. Carrier status of two rare lethal metabolic disorders was confirmed in one consanguineous couple. Three couples were carriers of 3 other rare diseases. Variants of LYST, MPV17, HEXB, ITGB4, CD3E, ASPM, TK2, COL11A2, and LAMB3 genes were identified. Six out of 10 were pathogenic variants, out of which 4 correlated with the demised children's phenotypes. One couple was negative for pathogenic variants. The last couple did not undergo genetic testing since they were beyond the fertile window. Appropriate parental genetic evaluation and counseling are mandatory for selecting the right genetic test to certify the diagnosis postmortem, by virtue of molecular autopsy by proxy. Clarifying a rare disorder diagnosis can help couples to avoid recurrence and plan early for their next pregnancies.

Psychiatrists' perceptions of and reactions to a simulated psychiatric genetic counseling session.

Psychiatric genetic counseling (pGC) has been demonstrated to have meaningful positive outcomes for people with psychiatric conditions and their families. However, it is not widely accessed, and clinical genetics services tend to receive few referrals for these indications. Little research has evaluated psychiatrists' perceptions of and experience with interfacing with pGC. Therefore, we invited Ontario-based psychiatrists to participate in a study in which they first watched a simulated pGC session (representative of typical practice: the patient had depression with no exceptionally dense family history of psychiatric conditions, no genetic testing is provided, and no family-based risk assessment is performed), then completed zoom-based qualitative semi-structured interviews. Interviews were recorded, transcribed verbatim and checked for accuracy. Using interpretive description to analyze interviews with 12 psychiatrists (data collection was stopped at this point, as theoretical sufficiency was achieved), we generated two theoretical models: the first described the decision-making pathway psychiatrists currently follow when determining whether and how to address genetics with a patient; the second described psychiatrists' ideas for integrating pGC into care models for the future. Our data shed light on how to facilitate the delivery of pGC for people with psychiatric conditions and their families.

Genetic Counseling Challenges: A Case Report of a 6-Year-Old Child with Developmental Delay and B-Acute Lymphoblastic Leukemia

Background: A 34-year-old father attended the Genetic Counseling session with concerns of the previous child who had a developmental delay (DD) and developed B-cell acute lymphoblastic leukemia at 4 years of age. Genetic evaluation for DD was suggested at 2 years and was not done. At the age of 4 years, she developed acute lymphoblastic leukemia and died due to a relapse at 6 years of age. He was concerned about his offspring’s risk for the above disorders. Investigations: First-tier genetic workup of chromosomal analysis revealed an abnormal mosaic karyotype of addition of chromosome 9p22, ?11p and monosomy 21 and florescence in situ hybridization revealed gain in 21q22 in most of the cells. Clinical exome sequencing showed a 17.25 Mb deletion in chromosome 8 and variant of unknown significance in the NUP214 gene. Chromosomal microarray detected a loss of 27.1 Mb in chromosome 8, gain of 102.3 Mb in chromosome 8p11.22q24.3 and 1.1 Mb chromosome 14q31.1q32.2. Conclusion: This case report will highlight the importance of early genetic testing and challenges in genetic counseling in view of hematological malignancy in a child with preexisting DD.

Applying the practice-based competencies to evaluate and characterize the contracting process within genetic counseling sessions.

Contracting is a skill used by genetic counselors (GCs) to establish a shared vision for the session. Ensuring that patients and GCs are aligned on expectations for the encounter allows GCs to meet patient needs and support patient autonomy. Although contracting is described in the practice-based competencies (PBCs), the process has not been systematically observed in practice. We sought to further elucidate the skills used for contracting within genetic counseling sessions through directed content analysis of transcripts from 148 simulated prenatal and cancer genetic counseling sessions. An a priori codebook and rating scale were developed based on four contracting sample skills described in the PBCs: (a) describing the genetic counseling process, (b) eliciting client concerns, (c) applying client concerns to a session agenda, (d) modifying the agenda in response to emerging concerns. The rating scale described the quality of each skill on a 4-point scale of "absent," "minimal," "adequate," and "excellent." The codebook and rating scale were pilot tested with 40% of transcripts (n = 60). Three authors independently coded and rated the final 60% of transcripts (n = 88), resolving discrepancies via a consensus process. We found that the four PBC skills were present in most sessions (88%-98%), and on average, GCs received "adequate" scores on all four skills. We also identified three additional components of contracting not described in the PBCs: assessing whether client concerns were met, inviting to interrupt, and providing opportunity for partner concerns. This study represents the first attempt to evaluate GC performance of a PBC during a genetic counseling session. Our findings demonstrate that the PBC sample contracting skills reflect practice and suggest that they can be used in assessment of the genetic counseling contracting process. This type of analysis could be adapted in the future to provide support for other standards of practice in the genetic counseling field.

Piloting a Spanish-Language Web-Based Tool for Hereditary Cancer Genetic Testing.

The delivery of hereditary cancer pre-test education among Spanish-language patients is impeded by the dearth of Spanish-speaking genetic counselors. To address this gap, we evaluated a web-based genetic education tool delivered in Spanish to provide information typically discussed during an initial genetic counseling session. Spanish-speaking patients with a personal or family history of cancer were recruited at two centers in Puerto Rico and through social media. A total of 41 participants completed a survey before and after viewing the tool to measure knowledge, attitudes, and decisional empowerment. A subset of 10 participants completed a virtual semi-structured interview to assess the usability and appropriateness of the tool. Paired t-tests were calculated to evaluate changes in knowledge and attitudes. A McNemar test assessed for decisional empowerment. Interview transcripts were translated from Spanish to English and inductively coded and analyzed. Results revealed significant increases in knowledge (p < 0.001), while attitudes about genetic testing did not change (p = 0.77). The proportion of individuals who felt fully informed and empowered to decide about whether to undergo genetic testing increased from 15% to 51% (p < 0.001). Qualitative data indicated that participants found the tool easy to use with informative and valuable content. Our findings suggest this Spanish-language tool is a user-friendly and scalable solution to help inform and empower many individuals to decide about cancer genetic testing, recognizing that others may still benefit from genetic counseling prior to testing.

Evaluation of Group Genetic Counseling Sessions via a Metaverse-based Application.

Group genetic counseling has been implemented to meet growing demand. A metaverse platform, in which a society is built and activities are carried out in the virtual world, has not yet been implemented in group genetic counseling. We investigated whether a metaverse platform could be an alternative service-delivery model for group genetic counseling. Participants (N=131) were divided into three groups: patient (N=45), family (N= 43), and interested (N=43) groups. Participants entered the metaverse through a link sent to their mobile phones and attended a 20-min group genetic counseling session reviewing hereditary breast cancer, followed by a 10-min question-and-answer period. The overall median score of post-educational knowledge (9.0, range 8.0-10.0) significantly increased compared to that of pre-educational knowledge (6.0, range 3.0-8.0) (P<0.001). There was no significant difference in the pre- and post-educational knowledge scores among the three groups (P>0.05). Most participants (95%) responded that their understanding of hereditary breast cancer had increased after the group genetic counseling session and that their satisfaction was high. The main advantage noted with metaverse was no limit of space and location while attending the session (97%), and the main disadvantage was a possibility of missing content due to an unstable internet connection (67%). The metaverse platform would be acceptable as an alternative group genetic counseling service. More studies are needed to investigate how, for whom, and in what circumstances metaverse can be effectively utilized.

The effect of a prior e-learning tool on genetic counseling outcomes in diverse ethnic couples with abnormal Down syndrome screening tests: A randomized controlled trial.

Genetic counseling (GC) following abnormal Down syndrome (DS) screening tests aims to ensure learning of complex medical concepts and discussion of counselees' personal desires. Pre-GC use of electronic learning tools (e-learning tools) can facilitate GC sessions by allowing more time for dialogue rather than learning medical and genetic concepts, enabling greater focus on the counselee's decisional, psychological, and personal needs. Few studies have investigated such tools for DS screening tests and those who have focused on screening uptake rather than abnormal results and implications. This study evaluated prenatal GC outcomes following implementation of an e-learning tool utilizing an educational animated movie for couples of varied ethnic backgrounds in northern Israel, with abnormal DS screening tests. E-learning tool impact was assessed as knowledge level, informed choices, satisfaction with the intervention and GC process, the state of anxiety and duration of the GC meeting. The 321 study participants were randomized to three groups: animation movie, booklet, and control. All participants had been asked to complete pre- and post-counseling questionnaires. Outcome scores were compared between the research groups. Results showed increased knowledge level in general among participants in the animation group; among minority participants, the highest knowledge level was in the animation group. Anxiety levels and informed choices were not statistically different among the groups. However, watching the animation, Jewish ethnicity, good level of genetic literacy, and academic degree were significant predictors of informed choice, and those who watched the animation were three times more likely to make an informed choice than the control group. Our findings suggest that this e-learning tool is efficient and acceptable for the general population. Special attention is needed for minorities with lower genetic literacy and education.

An exploration of cultural competency training and genetic counselors' racial biases.

Research shows genetic counselors generally have pro-White implicit biases-both prejudice and stereotyping. Cultural competency training aims to foster equitable beliefs, behaviors, and attitudes in cross-cultural genetic counseling sessions, including those that are racially discordant (genetic counselors and patients are from different racial backgrounds). Therefore, cultural competency training has the potential to mitigate bias and reduce disparities. Here, we report the prevalence of cultural competency training among genetic counselors and associations between recency of training and counselors' racial biases. We conducted an online survey of genetic counselors and trainees in fall 2021. The survey assessed four types of bias (implicit/explicit prejudice and implicit/explicit stereotyping), time since last cultural competency training, time since last communication skills training, and frequency of clinic sessions with Black patients. Multiple linear regressions modeled associations between cultural competency training and different types of bias, adjusting for communication skills training, frequency of encounters with Black patients, and counselor race (White vs. non-White). Two hundred fifteen participants (107 genetic counselors and 108 trainees) responded, and 205 reported whether they had prior cultural competency training. Of these, 187 (91%) reported ever having cultural competency training, most (53%) of participants who had training had it within 6 months prior to survey completion. We found no clear pattern of associations between cultural competency training and racial biases (implicit or explicit) in adjusted analyses. Participants who had cultural competency training four or more years prior demonstrated less negative implicit stereotyping toward Black individuals compared with those having more recent training; but no statistically significant effect was found for participants who reported never having cultural competency training, compared with those having training more recently than 4 years prior. Overall, our findings do not support that cultural competency training is negatively associated with, or mitigates, Black/White racial prejudices and stereotypes against Black patients. These findings suggest more effective interventions are needed to reduce racial biases.

Feasibility of cancer genetic counselling and screening in Cameroon: perceived benefits and barriers.

Because there was no genetic testing service in Cameroon, we assessed the acceptance, perceived benefits and barriers and willingness to pay for genetic cancer screening in Cameroon amongst patients with cancers. We carried out a hospital-based, cross-sectional study on adult cancer patients at the Yaoundé General Hospital and the non-Governmental Organisation Solidarity Chemotherapy between February 1, 2021, and December 31, 2021. This was a convenience sampling that included all consenting patients. Qualitative and quantitative data were analysed by Epi info version 7 and SPSS version 20. Our study included 160 (87.5% females) cancer patients, whose ages ranged from 20 to 82 years, with a mean of 49.9 ± 13.0 years. Only 11.9% had undergone some form of genetic counselling or information sessions, and most found this to be helpful in terms of increased knowledge and prevention strategies (13, 68.4%). Almost all participants (156, 97.5%) stated they will like their relatives to undergo genetic counselling. Of these, 151 (94.4%) expressed their desire for their relatives to discuss their cancer risk with a specialist. Perceived benefits of genetic testing included cancer prevention (108, 67.5%) and motivation of self-examination (81, 50.6%). Prominent possible barriers included the cost (129, 80.6%), unavailability of equipment (49, 30.6%) and anticipated anxiety (40, 25.0%). However, a majority of the participants (156, 97.5%) were willing to test for genetic mutations. One hundred and thirty-five (84.4%) participants were willing to pay for genetic testing, with the majority of them (71.8%) ready to pay between $16.7 and $100. Almost all of the participants expressed their willingness to receive cancer genetic counselling and testing but the cost became the main barrier. This pilot study will serve as a guide to the processes of establishing a cancer risk assessment clinic in Cameroon.

The development and preliminary evaluation of the Genetic Counseling Skills Checklist.

Genetic counseling (GC) relies on communication to help people understand and adapt to genetic contributions of disease, and there is need for a practical and reliable method of comprehensively documenting GC communication skills without intensive coding. To this end, we created a novel process measure called the Genetic Counseling Skills Checklist (GCSC), utilizing previously validated measures, communication/counseling frameworks, and prior research findings. A multistage iterative process was used to develop, evaluate, and modify the GCSC to improve its clarity, usability, and content validity. To assess interrater reliability, randomly assigned, untrained individuals (i.e., coders) used the GCSC version 3 to code multiple simulated GC sessions. Average measures intraclass correlation coefficients (ICCs) were calculated for each of the 8 GCSC process categories using one-way, random effects models. After relatively minor modifications to the GCSC, two pairs of experienced coders used GCSC version 4 to independently code additional GC sessions and Cohen's Kappa coefficients (κ) were calculated to assess interrater reliability for each process category. The GCSC contains five to eight items within each category and demonstrates good content validity given its ability to capture nearly all GC skills that genetic counselors reported using in a prior qualitative study. Interrater reliability of GCSC version 3 among coders with limited experience was moderate or good for 6 out of the 8 process categories as evidenced by ICCs ranging from 0.55 to 0.86. Average interrater reliability of GCSC version 4 among one pair of experienced coders was strong for all eight process categories (κ ranging from 0.82 to 0.94); among the second pair of experienced coders scores were strong for six categories (κ ranging from 0.80 to 0.87) and moderate for two categories (κ of 0.77 and 0.78). The results suggest the need for training and experience to assure adequate interrater reliability across GCSC coders. Future work is needed to create a formalized training program for coders, complete a larger study to further validate the measure, and use the GCSC to document variability in skills used across providers and sessions.

Clients' and genetic counselors' perceptions of empathy in Japan: A pilot study of simulated consultations of genetic counseling.

The rapidly increasing availability of genetic testing is driving the acceleration of genetic counseling implementation. Empathy is important in medical encounters in general and forms a core component of a successful genetic counseling session; however, empirical evidence on empathy in genetic counseling is minimal. This study aimed to explore the perceptions of empathy in simulated genetic counseling consultations from the perspectives of clients and genetic counselors. Semi-structured interviews and interpersonal process recall were used with participants of simulated genetic counseling consultations to elicit their experiences of empathy. A constructivist grounded theory was used for data analysis. A total of 15 participants, including 10 clients and 5 genetic counselors, participated in 10 simulated counseling sessions. The genetic counselors attempted to demonstrate empathy and were sensitive toward detecting changes in clients. Meanwhile, the clients' perceptions represented their feelings and thoughts elicited through the counselors' empathic approaches. This was the first process study to examine empathy in simulated genetic counseling sessions. Our model of communication of empathy is a process in which counselors try to address implicit aspects of clients, and clients are provided with time and a safe place for introspection, which contributes to discussions on building good relationships with patients. There is also a suggestion of the utility of simulated consultations for healthcare providers to learn empathic communication.

Mode of delivery preference in prenatal genetic counseling between English- and Spanish-speaking patients at two US medical institutions.

Although Hispanic individuals are at an increased risk for various genetic conditions, they have lower uptake of genetic counseling and genetic testing. Virtual appointments have many advantages that may help Spanish-speaking patients access genetic services more readily. Despite these benefits, there are limitations that may make them less attractive options for these individuals. This study aimed to determine if satisfaction with genetic counseling or mode of delivery preference differs between English- and Spanish-speaking individuals who have had a virtual prenatal genetic counseling session. Participants were recruited from prenatal genetic counseling clinics at Indiana University Health and Eskenazi Hospital. A REDCap survey was sent to all eligible participants. Survey questions included mode of delivery preference for future genetic counseling sessions (virtual versus in-person), the validated Genetic Counseling Satisfaction Scale, and questions inquiring about the importance of various factors affecting mode of delivery preference. Spanish-speaking individuals preferred future visits to be in-person, while English-speaking individuals preferred future visits to be virtual (Fisher's exact p = 0.003). Several factors were associated with these preferences, including waiting time, ability to leave/take off work for an appointment, length of session, childcare arrangements, and people attending the appointment (all p < 0.05). Both language groups reported similar mean satisfaction with the genetic counseling provided during their previous virtual appointments (p = 0.51). This study found that certain aspects of virtual genetic counseling appointments make them less appealing to Spanish-speaking individuals. Making virtual genetic counseling appointments more appealing while continuing to offer in-person appointments may help Spanish-speaking individuals receive necessary genetics services. Continued research into disparities and barriers to telemedicine for Spanish-speaking patients is necessary to increase access to this service delivery model for genetic counseling.