Five student theses were completed and four are described below. Three will be presented as posters at the National Society of Genetic Counselors conference in Salt Lake City, UT in November, 2019. Two manuscripts are currently under review. Katherine Anderson: Growth Attenuation Therapy: Experiences, Attitudes, And Practices of Genetic Counselors Growth attenuation therapy (GAT) is a controversial intervention used to halt the growth of children with profound disability with the intention of facilitating long-term care by the childs guardians. There are no nationally accepted clinical guidelines to direct clinicians how and under what circumstances to initiate a referral for GAT, and clinician attitudes and practices regarding GAT are poorly understood. Pediatric genetic counselors often serve a role helping guardians make decisions about treatments and coordinating care for their child. In this study, genetic counselor attitudes and clinical behaviors regarding GAT were explored through a survey of 62 pediatric genetic counselors and semi-structured interviews with eight genetic counselors who had considered or discussed GAT for a patient. GAT is a divisive intervention for genetic counselors, and attitudes toward GAT diverged the most regarding the degree to which GAT infantilizes children and the extent to which choosing GAT for a profoundly disabled child infringes on that childs autonomy. Most genetic counselors felt some discomfort about discussing GAT with a family whether due to their limited knowledge of the intervention or their opposition to its use. However, participants also emphasized genetic counselors unique skillset as a bridge between medical doctors and patients, and as a source of therapeutic counseling for guardians facing difficult care decisions which may be called upon in discussions of GAT. Alexa Geltzeiler: Its Easy to Assume that Theyre Okay: Genetic Counselors Willingness and Preparedness to Discuss the Interpersonal and Psychological Effects of Miscarriage This exploratory study aimed to examine genetic counselors perspectives on and practices related to the psychological and interpersonal effects of miscarriage. Miscarriage is frequently uncovered in genetic counseling sessions during the taking of a pregnancy history, and given that the genetic counseling profession places a high level of importance on psychosocial counseling, it is relevant to consider whether and how such information is discussed. This study consisted of an online survey of 200 prenatal genetic counselors and semi-structured interviews with a subset of 25 genetic counselors recruited via the National Society of Genetic Counselors Listserv. On the whole, survey results indicate that genetic counselors have a strong appreciation for the psychological effects of miscarriage and feel prepared to discuss it. However, when taken in the context of the qualitative findings, the results suggest that genetic counselors may be unaware of or reluctant to admit the areas in which they feel less prepared. Overall, our findings indicate that a training intervention for genetic counselors may be warranted. Chenery Lowe: Genetic Counselors' Implicit Racial Bias and Cognitive, Emotional, and Informational Exchange in Simulated Sessions Implicit racial bias has been shown to negatively affect several communication processes, suggesting that bias is detrimental to the genetic counselor-client relationship and therefore impedes progress toward client-centered goals. This study extends previous research in the domains of implicit bias and interpersonal communication to identify possible directions for communication training and practice intervention. Secondary analysis of a nationally representative sample of genetic counseling sessions with white and minority (Black and Latino) simulated clients (SCs) was conducted. A subset of the genetic counselors (GCs, n=60) completed a Race Implicit Association Test (IAT). The Roter Interaction Analysis System (RIAS) was used to characterize and code GC and SC communication behaviors and Linguistic Inquiry Word Count (LIWC) was applied to session transcripts to analyze SC talk. Main outcomes were SC cognitive and emotional processing, GC facilitation of cognitive and emotional processing, and GCs provision of personalized clinical information. Multiple linear regression analyses were performed to relate these outcomes to GCs IAT scores, SC race, and statistical interaction between GCs IAT scores and SC race. GCs implicit racial bias had different effects on GCs provision of information depending on SC race (p<0.05). For minority SCs, higher (more pro-white) IAT scores were associated with GCs being less likely to provide personally-framed clinical information relative to white SCs. GCs (n=60) used more cognitive facilitation strategies with minority than with white SCs (p=0.04). Genetic counseling communication may reflect differential processes of individuation and categorization based on client race. Clinical as well as interpersonal communication may be sensitive to the effects of GCs implicit racial bias. The relationship between client race and cognitive, affective, and informational exchange in genetic counseling sessions is complex. Ahna Neustadt: Adult Patients with Undiagnosed Conditions and Their Responses to Clinically Uncertain Results from Exome Sequencing Patients pursuing exome sequencing in their quest for diagnosis will most often receive a clinically uncertain result. A clinically uncertain result has some level of objective uncertainty as viewed by clinicians regarding a patients diagnosis. A clinically uncertain result can be a result that is negative, with no reportable genetic variants, or that includes one or more genetic variants deemed uncertain with regard to the cause of a patients condition. Clinically uncertain results present challenges to both providers and patients in disclosing and processing ambiguous health information. This exploratory study sought insight into the psychological and behavioral impact of receiving clinically uncertain results from exome sequencing. Semi-structured phone interviews were conducted with 23 adult patients with undiagnosed conditions who have received two of the more common types of clinically uncertain results from exome sequencing: either a negative result or a result with one or more variants of uncertain significance. Interviews focused on the experience of receiving the clinically uncertain result, with emphasis on conceptualization of uncertainty and coping. Interviews were transcribed and subjected to thematic analysis, and results were analyzed within the context of participants diagnostic odysseys. No thematic differences were found between the experiences of those who received negative results versus those who received one or more variants of uncertain significance. Participants demonstrated a variety of conceptualizations of the uncertainty related to their exome sequencing result and undiagnosed condition. They were generally acclimated to illness uncertainty due to their lengthy and ongoing diagnostic journey, which resulted in realistic expectations about and acceptance of their clinically uncertain results. However, participants still hoped that exome sequencing would end their diagnostic odyssey, and many remain hopeful that future technological advances will provide them with a diagnosis. This residual hope, as well as optimism, were used as coping strategies to deal with continued uncertainty. Understanding how patients with undiagnosed conditions respond to clinically uncertain results from exome sequencing can inform providerspractices around informed consent and the disclosure of clinically uncertain results through a greater consideration of patients reactions, concerns, and challenges with adaptation to uncertainty.
Showing the most recent 10 out of 18 publications
