Four student theses were completed. Each is described below. They will all be presented at the Annual Conference for the National Society of Genetic Counselors in Anaheim, CA in October 2013. Sally Rodriguez: Translation and validation of a Spanish-language genetic literacy screening tool Literacy deficits and under-utilization of medical services have been linked to health disparities among minority groups and this appears especially relevant for the rapidly growing Latino population. Given the increasing importance of genetics in healthcare, assessment of genetic literacy may help direct future efforts to better serve this vulnerable population. Objective: The current study was designed to contribute to this area by translating and validating a Spanish-language genetic literacy measure, and subsequently examine its use and relationship with genetics-related outcomes. Methods: This study involved a cross-sectional design with an interviewer-administered questionnaire. Eligible individuals were Latinos from 18 and 75 years residing in Maryland, who self-reported Spanish as their primary language, recruited through convenience sampling. The genetic literacy measure components were adapted from existing English-language measures and an existing Spanish-language health literacy measure was used for concurrent validity analysis. Results: A total of 116 individuals completed the assessment. The Spanish-language REAL-G was found to correlate well with the SAHLSA (Pearsons r = .771, p <.01). A cut-off score of 59 out of 62 was found to adequately distinguish between individuals with low versus high genetic literacy. Genetic literacy was significantly correlated with educational exposure and acculturation and was higher for individuals who reported taking an ESL class and learning about genetics in school. We are reassured by the lack of correlation between genetic literacy and reported self-efficacy to discuss medically-related family health history with family members or healthcare providers.Conclusions: Our data demonstrates the concurrent validity of the Spanish language adaptation of the Erby et al.s REAL-G for the Latino population residing in Maryland. Future studies should expand testing to Latino populations in other parts of the country. Weiyi Mu: Challenges of living with frontotemporal dementia Frontotemporal dementia (FTD) is a focal neurodegenerative disease featuring deterioration of conduct, temperament and speech. The impact of an FTD diagnosis on the psychological well-being of the affected individual has not been described. Objective: The goal of this study was to explore awareness and conceptualization of the impact of FTD using blogs written by individuals affected with FTD and caregivers of persons with FTD. Methods: Online weblogs (blogs) written by individuals affected with FTD provide a source of pilot data to further understanding of the impact of living with the disease. We identified blogs written by individuals affected with FTD (n=8) and blogs written by unmatched spouse or child FTD caregivers (n=8). A content analysis was conducted, targeting text addressing awareness of disease, the personal impact of FTD, and coping strategies. Results: These blogs demonstrate that affected individuals can articulate awareness of cognitive, behavioral, and language symptoms of FTD. Our data run counter to reports in the literature that persons with FTD have poor insight and limited awareness of their cognitive changes. Awareness of signs of dementia precipitated psychological distress related to adapting to living with FTD, notably perceiving FTD as a threat to the affected individuals sense of self. FTD bloggers described several coping strategies used to adapt to this threat. These included emotion-focused strategies of talking to others and re-framing thoughts, as well as task-focused strategies of establishing routines, seeking rest, maintaining normalcy, and educating oneself.Unique to these FTD bloggers was an overarching feeling of purpose for blogging about their disease experience and forming a supportive online community of persons affected with and aware of their FTD. Conclusion: This study marks the first endeavor to understand the awareness and impact of FTD on the affected individual. The data can inform future exploratory and therapeutic intervention studies on the impact of FTD. Dana Petry: Likelihood of use of a new adult genetic risk assessment clinic Scientists and physicians have embarked on a more personalized approach to medicine. The Executive and Preventive Health Program is considering the addition of an adult genetic medicine clinic to serve those who are interested in learning about the role of genetic factors in their health. More information about patient preferences for genomics services provided in a clinical setting could allow providers to better tailor their services in order to fit the needs of their clients and enhance patient satisfaction. The goal of this study was to assess the factors that could drive early use of a regionally based adult genetic risk assessment clinic for common chronic conditions. Methods: A representative sample of current members of the Johns Hopkins Executive and Preventive Health Program completed a web-based survey including questions on patient demographics, personal and family health history, and various factors related to likelihood of use of the potential clinical service. The primary outcome variables were likelihood of use and willingness to pay. Results: A total of 204 participants completed the survey. The mean age of respondents was 54 years old. Overall, a majority of respondents reported that they were likely to request the service and believed they could find a way to pay for it out-of-pocket. A majority also had generally positive beliefs about genetics, science, and technology and valued the importance of the services offered and potential information learned from a genetic evaluation. These positive beliefs and self-reported feelings of being at higher risk of developing a multifactorial genetic condition were commonly associated with increased likelihood of use. Conclusions: These results suggest that there is significant interest in the types of genetic services proposed in this study. Future longitudinal studies are needed to capture actual service use. Ilana Solomon: Living in Lynch Syndrome Limbo:Understanding the Meaning of Uncertain Genetic Test Results Genetic counselors encounter challenges related to the management of Variants of Unknown Significance (VUS). There is limited information about the ways in which people react to a VUS, as it presents a clinical interpretation challenge and also evokes new counseling dilemmas for the understanding and psychosocial impact of uncertain genetic test results. Objective: The purpose of this study is to describe the experience of individuals who have received a VUS as part of the genetic testing process. Through these descriptions, this exploratory study aims to seek insight into the psychological impact of receiving a VUS test result for one of the Lynch syndrome/HNPCC mismatch repair genes. Methods: Semi-structured interviews were conducted with 20 adults who received a VUS for Lynch syndrome mismatch repair genes. Interviews focused on the disclosure process, understanding and perception of uncertainty associated with the result, coping strategies and communication patterns over time. The interviews were transcribed and subjected to thematic analysis. Results: Findings indicate that most individuals recall their result and perceive various types of uncertainty associated with their VUS but were unaware about the possibility of a VUS. Most participants appraised their variant as a danger and implemented coping strategies to reduce the health threat of developing cancer.

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6
Fiscal Year
2013
Total Cost
$848,854
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National Human Genome Research Institute
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Biesecker, Barbara B; Erby, Lori H; Woolford, Samuel et al. (2013) Development and validation of the Psychological Adaptation Scale (PAS): use in six studies of adaptation to a health condition or risk. Patient Educ Couns 93:248-54