Three student theses were completed. Two are described below. All three studies will all be presented at the The National Society of Genetic Counselors' conference in Seattle, September 2016 and be submitted for publication. Jennefer Kohler: Personal Utility in Genomics: A Mixed Methods Study to Identify Key Elements With the rapid integration of new sequencing technologies, researchers and clinicians recognize how genomic test results affect recipients in ways distinct from generally accepted clinical outcomes. These outcomes have been labeled as providing personal utility. Yet no consistent or comprehensive delineation of personal utility in genomic testing exists, making it challenging to determine which outcomes are relevant to genome sequencing. Identifying elements of personal utility will help clinicians inform patients about a broader range of potential useful outcomes. Clarity in identifying what is meant by personal utility will add precision to the design of sequencing studies. This study aimed to identify key elements of personal utility and gather evidence in support of the importance of elements from stakeholders in a genome sequencing study. There were two major components to the study: a systematic literature review and use of a Delphi method survey with an existing research cohort. The systematic literature review identified published outcomes of personal utility in genomic testing. Identified outcomes were iteratively coded into representative elements of personal utility. Elements identified in the literature review were subsequently assembled into a Delphi method survey, administered to participants in a whole-genome sequencing research study. The survey consisted of two rounds; after each round, elements were added or removed based on the rating results. The literature search returned 330 abstracts from which 25 studies met the inclusion/exclusion criteria. Studies involved affected, unaffected, and at-risk individuals; family members; research participants; and the public. They included a variety of genomic test type. Coding resulted in 19 distinct elements of personal utility, organized into four overarching domains: affective wellbeing, cognitive understanding, social effect, and practical application. These 19 elements were used to create a 38-item Delphi survey. After round one, seven items were dropped and two were added; after round two, six additional items were dropped based on low rating. This resulted in 27 items representing 15 elements of personal utility. Elements of personal utility have been featured in 25 studies, emphasizing their purported value to individuals seeking genomic test results. This mixed-methods study found that elements of personal utility most relevant to the whole genome sequencing context are largely positive, implying that individuals predominately experience benefits from learning their results. Findings from this study may inform shared decision-making between clinicians and individuals seeking genomic testing, as well as guide pre-test counseling. Claire Anderson: Are genetic counselors screening for adolescent suicide risk? A mixed-methods study This study describes the practices, attitudes, and beliefs of genetic counselors in relation to suicide risk assessment (SRA) of adolescent clients. Suicide is a major public health issue and one of the leading causes of death for adolescents in the U.S. Analysis of suicide prevention campaigns has shown that the most effective way to decrease suicide is by training providers to recognize suicide risk factors. As chronic illness is an additional risk factor for suicide, pediatric genetic counselors encounter particularly high-risk clients and are well-positioned to assess for suicide risk due to the psychosocial nature of their work. However, the SRA practices of genetic counselors have not been previously described. In this cross-sectional study guided by the transtheoretical model of behavior change, genetic counselors were surveyed about their practices, attitudes and beliefs concerning SRA through an anonymous online questionnaire consisting of quantitative components and open-ended questions. 229 U.S. genetic counselors who counseled adolescent clients in the past year were recruited through the National Society of Genetic Counselors Student Research Survey listserv. Almost half of respondents had assessed an adolescent client for suicide risk, but most had performed SRA with fewer than 10% of their adolescent clients. Approximately 11% of respondents used SRA as a routine part of their clinical practice. Based on logistic regression, stage of readiness to adopt SRA was associated with prior training and perceptions that SRA is within a genetic counselors scope of practice. While most rated SRA as important, the qualitative results suggest that many perceive barriers to SRA, often fearing negative reactions from their adolescent clients. Suicide risk assessment training specific to genetic counselors needs and concerns could help to increase frequency of adolescent SRA.
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