Four student theses were completed and three are described below. All four will be presented at the National Society of Genetic Counselors conference in Atlanta, GA in November, 2018 (one platform presentation; three posters) and will be submitted for publication. Emily Bonkowski: Effects of communication complexity on analogue clients in a video cancer genetic counseling session Communication of information plays a central role in genetic counseling. There have been few direct comparisons of differing communication approaches. This research study aimed to experimentally manipulate communication of genetic information and to describe how the complexity of counselor communication impacts client affective and cognitive outcomes using a hypothetical cancer genetic counseling scenario. The study used a mixed methods experimental design consisting of a web-based module that simulated specific educational and communication aspects of a cancer genetic counseling session. Female study participants (N=286) were randomly assigned to watch one of three simulated video genetic counselor sessions of either high, medium, or low communication complexity consisting of 8-21 minute short video clips. Demographic information, personal perceived cancer risk, genetic literacy, and patient-provider orientation were collected before beginning the videos, and survey instruments were administered after the videos to capture decisional, affective, and cognitive outcomes. Low complexity communication of information reduced feelings of negative emotion (including confusion) compared to the high complexity group. Individuals in the medium complexity group felt more decisional conflict than the high complexity group. No other main effects on measured genetic counseling outcomes were detected. Genetic literacy and patient- provider orientation had modifying effects on the relationship between complexity level and some outcomes. Personal characteristics, including age, race, perceived personal risk of cancer, genetic literacy, and patient-provider orientation were associated with some genetic counseling outcomes. Participants generally found the experience to be realistic. Low complexity communication did not elicit poorer outcomes than high complexity communication overall. Our findings also support the notion that personal factors influence clients reactions to genetic counseling communication. In accordance with principles of patient-centered communication, it is important to tailor communication to fit clients needs. Rachel Hakim Gore: Challenges to informed consent for exome sequencing: A best worst scaling experiment As exome sequencing (ES) expands as a diagnostic tool, patients and providers have voiced concerns about the breadth and scope of potential results. Particularly, genetic counselors perceive challenges to prioritizing complex information during informed consent sessions. This study first sought to characterize challenges to the informed consent process for ES. Secondly, it aimed to understand how genetic counselors prioritize elements of obtaining consent for clinical ES, and thirdly, whether counselor factors influence prioritization.
Aim one was addressed through a systematic review of the published literature from January 2010 to February 2017. Seventeen identified challenges culled from the review informed the development of a best worst scale (BWS) used to address aim two. Eleven attributes for the BWS task were finalized with input from two focus groups and were assembled into choice sets using a balanced incomplete block design. A survey presenting the BWS tasks and assessing perceptions of communication and target efficacy and tolerance for ambiguity alongside demographics was assembled to address aim three. The survey was distributed to members of the National Society of Genetic Counselors via their email listserv. BWS data was analyzed using a counts based method, and stratified analyses were run with two-tailed t tests controlling for reported counselor factors. Results: 342 genetic counselors completed the survey. Counselors with more experience ordering ES were significantly more likely to work in pediatrics and reported higher communication and target efficacy. Ranking of best-worst scores revealed that genetic counselors prioritize collaborative decision-making, assessing patient understanding and managing expectations, with the least emphasis placed on discussing technological complexities. Stratified analyses found that counselors with more exome experience, and those who reported higher target efficacy, were significantly more likely to prioritize discussion of variants of uncertain significance (p<0.05). Genetic counselors perceive challenges in addressing the many complicated aspects of exome sequencing, particularly secondary findings and limitations of testing. Counselors report intentions to prioritize aspects of informed consent that focus on addressing individual patient needs. Additionally, participant characteristics influence discussion of potential uncertain results. Further research should explore how these priorities are exhibited in practice. Hannah Wand: Genetic testing preferences and intentions in patients with clinically diagnosed familial hypercholesterolemia Familial Hypercholesterolemia (FH) is a common (1/250) Mendelian disorder that results in elevated LDL cholesterol levels from birth, and if left untreated can result in premature heart disease. Only up to 10% of affected individuals are clinically identified. This is problematic as early statin intervention reduces morbidity and mortality. Currently, there are no standard diagnostic criteria in the US. Genetic testing for FH is 80% sensitive (Brautbar et al., 2015) and could greatly improve diagnostic accuracy and management. Few patients in the US have a genetic diagnosis (Ahmad et al., 2016) and little is known about patients reasons to pursue, or not pursue, FH genetic testing. The primary objective of this study was to identify predictors of FH genetic testing intentions in patients with a clinical FH diagnosis. Guided by the Health Belief Model and Theory of Planned Behavior, we predicted that high perceived benefits from and positive attitudes towards genetic testing would predict intentions to have testing; whereas high perceived risks or barriers would lower these intentions. We recruited patients with a clinical diagnosis of FH who had not had genetic testing through the FH Foundation, in lipid clinics throughout the US, and at the FH Summit. Participants completed the survey online or on paper in person. We assessed attitudes, benefits, risks and barriers of genetic testing as potential predictors for testing intentions. Exploratory factor analysis collapsed items into factors that were used as independent variables in a linear regression with testing intention as the outcome. We controlled for age and gender and tested for interactions among factors. Exploratory factor analysis identified three factors: (1) aversion, (2) curiosity regarding medical/family history, (3) and psychological reassurance. Reassurance was the only significant predictor for genetic testing intention in our regression. There was a significant interaction between aversion and reassurance, such that aversion was inversely related to genetic testing intentions when there are low perceived psychological reassurance. Our results suggest that genetic counseling around FH genetic testing should include discussion about the perceived psychological reassurances from genetic testing. This is important given that when perceived reassurances are low, those averse to learning genetic information would decline testing. Though it is always an option to decline testing, these decisions to decline would be worrisome if they are not informed decisions.
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