NHGRI/DIR Genetic Counseling Training Program

National Human Genome Research Institute

Investigators

Linked publications, trials & patents

Abstract

Four student theses were completed. In addition, program leadership published a study exploring the use of a novel instrument to measure the therapeutic relationship between genetic counselor and client. The trainee studies are described below. One will be presented as a platform presentation and three as posters at the virtual National Society of Genetic Counselors conference September, 2021. Seven recent graduates' manuscripts have been published, and one manuscript is under review. Elizabeth Broadbridge. Advisor: Lori Erby. Genetic counselors (GCs) routinely provide service in counseling-type (C-Type) and medical-type (M-Type) rooms. C-Type refers to office settings that consist of tables, chairs, and, importantly, lack medical equipment. M-type refers to typical outpatient clinics. Manipulation of the physical environment can influence patient well-being, comfort in disclosing personal information, and overall satisfaction with communication. There is little known about how environments influence the process of genetic counseling. To explore whether the physical environment influences patient perceptions in genetic counseling, we created simulated video encounters. The encounters were digitally placed in a C-Type or M-Type room. We recruited 902 participants to rate the GCs communication and the therapeutic relationship. Room type did not have a significant effect on participants ratings of the therapeutic relationship or of the GCs communication. A k-means cluster analysis revealed three distinct clusters participants who viewed the room as warm, inviting, and comfortable (group 1), participants who saw the room as cold, intimidating, sterile, and medical (group 3), and a group that did not have a distinct profile of how they viewed the room (group 2). Overall, group 1 had the highest ratings of the communication and therapeutic relationship and group 3 had the lowest GC ratings. This analysis was repeated separately for participants who viewed the C-Type room and participants who viewed the M-Type room, which revealed a similar set of results. This illustrates a new way to quantitatively examine perceptions of the genetic counseling environment. The results offer insight into how perceptions of environment might influence the GC process itself and will inform future inquiry. Amelia Mulford. Advisor: Lori Erby. Technology is evolving to detect and facilitate interpretation of genomic variants associated with neurodevelopmental disorders (NDD). With a current diagnostic yield of 25-40%, exome sequencing (ES) is postured to become a first-tier testing strategy for individuals with NDD. However, little is known about the psychological impact for caregivers of children with NDD or the ways that their experiences may differ by the type of ES results returned. Our study aimed to characterize the ways in which types of ES results affect caregivers perceptions of their childs NDD and uncertainty about their childs health. We also aimed to describe how appraisals of the NDD influence caregivers psychological adaptation and emotional distress, and to delineate the role of time in these relationships. Participants were recruited through two pediatric genetics clinics in Baltimore. A total of 190 participants completed the survey. Caregiver perceptions of treatment control and coherence significantly differed across categories of ES results (positive, negative, or uncertain), as did uncertainty. Trends in the data indicated that caregivers greater sense of personal control over their childs NDD, weaker unfavorable feelings associated with the NDD, and receiving an uncertain vs. a negative ES result are associated with better adaptation. Negative emotion associated with the NDD was the only significant predictor for the emotional distress outcomes. No association was found between time and the other variables of interest. This study deepens our understanding of caregivers cognitive, affective, and adaptive processes following ES. Findings from this study carry implications for pre- and post-test genetic counseling, enabling clinicians to better tailor information, resources, and counseling interventions to families with NDD. Stephanie Riley. Advisor: Bill Klein. Individuals at risk for adult-onset hereditary neurological conditions are presented with a variety of reproductive options. Although there is a growing body of research regarding individuals views about the available reproductive options, there is significant variation in the acceptability and choice of each reproductive option. We hypothesized that individuals experiences with a condition will affect their perceptions of the condition as well as their attitudes toward reproductive options. Individuals diagnosed with or at risk for a group of adult-onset, neurological conditions were recruited from Johns Hopkins Hospital (JHH) and national support organizations. Likert scales were used to measure how much each of 7 reproductive options align with the respondents values and how likely they would be to choose each option. 259 eligible individuals participated in this study. There were nine disorders represented, with the highest proportion of respondents (50.2%) at risk for Huntingtons Disease (HD). Greater perceived psychosocial impact of disease was significantly positively correlated with attitudes towards avoidant reproductive options, whereas greater perceived severity was negatively correlated with attitudes towards non-avoidant reproductive options. Additionally, there was an incongruence between an individuals past reproductive choices and attitudes towards those choices. Attitudes towards reproductive options in adult-onset, neurological conditions are incredibly complex, and providing a referral to a genetic counselor to discuss reproductive options may be appropriate for most individuals. Caralynn Wilczewski. Advisor: Debra Roter. The integration of genetics and genomics in medical care has increased the need for skilled communicators who can facilitate patient understanding and utilization of this complex information. Genetic counselors (GCs) help bridge this gap by engaging patients to achieve aims of patient understanding, decision-making, coping and adaptation in relation to genetic risk and conditions. While visual aids have been used in genetic counseling sessions to illustrate and explain complex biomedical concepts inherent in these conversations, we lack an understanding of how frequently GCs use visual aids in practice and how their use affects interpersonal communication during these sessions. The purpose of this study is to examine the frequency and consequences of visual aid use on genetic counselor-client communication in genetic counseling sessions. To address this question, 137 video recorded and transcribed simulated prenatal and cancer genetic counseling sessions that were collected as part of the Genetic Counseling Video Project were observed for visual aid use and associations between use and communication behaviors, oral literacy demand, and client and provider satisfaction. Visual aids were widely used in prenatal and cancer sessions, although use differed between the specialties. Patient-centered communication was negatively associated with visual aid use, and an increase in genetic terminology was noted in cancer sessions with the highest visual aid use. Visual aid use was not clearly associated with differences in simulated client or genetic counselor satisfaction. Hand drawing and hand gesturing were also noted as modes of visual communication. This research suggests that visual aid use may affect certain aspects of patient-provider communication in previously unrecognized ways that providers should be aware of as they incorporate these educational tools into their practices.