Background: This mixed-methods dissertation is multi-layered and exploratory in nature. It provides methodological contributions to the fields of evaluation and research methods by demonstrating how the root cause analysis (RCA) method can be utilized to evaluate program improvement and assist in the development of research questions and hypotheses. Additionally, it adds to the literature on reproductive genetics decision-making by contributing to the knowledge of this complex process. Research Aims: This dissertation includes the following three aims: 1) to illustrate how the RCA interview method can be a useful tool to improve programs that have not been implemented with fidelity; 2) to demonstrate how the RCA interview method can be adapted for research by elucidating research questions and hypothesis development processes; and 3) to glean information pertaining to reproductive genetics decision-making knowledge, attitudes, and behaviors among genetic counselors and women who were pregnant and had reproductive genetic counseling. Methods: Mixed-methods research took place over a 13-month period in Arizona and across the U.S. between June 2015 and August 2016 among two separate groups. The qualitative research includes semi-structured, in-depth interviews with genetic counselors (n=22), and RCA interviews (n=9) with genetic counselors sampled from 12 southwestern and western states. The quantitative research comprised of piloting two survey instruments. Survey #1 for genetic counselors (n=22) and Survey #2 for women who had genetic counseling and were pregnant between January 1, 2005 and December 31, 2015 (n=104). Results: The results by manuscript are: 1) RCA is a useful evaluation tool for evaluating program improvement when programs have not been implemented with fidelity; 2) RCA is a beneficial methodological approach for researchers for focusing areas of inquiry, generating research questions, and developing research hypotheses; and 3) Women with a master's degree or higher are more likely to have reproductive genetic testing than women with a bachelor’s degree or under. Women who received reproductive genetic testing had significantly higher genetic testing knowledge scores than women who did not have genetic testing. Women who held a master's degree or higher had significantly higher genetic testing knowledge scores than women with a bachelor’s degree or under. Conclusions: RCA is a flexible and adaptive tool that works well for evaluation and research purposes. Reproductive genetic testing is a complex field that is rapidly changing, and there are significant differences in knowledge among women facing testing decisions calling for tailored interventions around genetic testing literacy. Recommendations: Evaluators and researchers alike should be aware of RCA as a useful methodological tool that they can use to help evaluate program improvement as well as facilitate the process of developing research questions and hypotheses. Genetic literacy interventions and decision-making resources must take into consideration the role education has on genetic testing decisions as well as its part in understanding the appropriateness, benefits, and limitations of specific genetic tests. This research further advocates for women to have access to certified genetic counselors to tailor the information to meet the individuals' needs in order to promote informed, autonomous genetics decision-making.

Huntington disease (HD) is a genetically transmitted fatal neurodegenerative condition that currently has no cure. The symptoms of HD are manifested as cognitive declines, neuropsychiatric disturbances, and motor dysfunction. An autosomal dominant genetic defect is responsible for the onset of HD, which means that the children of an affected parent have a 50% chance of inheriting the disease. Predictive genetic testing for HD has been available since 1993, and a positive test result means that a person will develop HD with 100% certainty. People who have the HD-gene expansion, but have not yet manifested unequivocal motor signs, are said to be in the prodromal phase of HD. A number of studies have examined concerns about the utility of genetic testing and its negative psychological consequences for gene-expanded and non-expanded individuals (e.g., traumatization, suicidal ideation). Although research has understandably focused on the potential for distress, there has been some evidence suggesting that individuals may actually experience psychological growth related to a receiving a genetic test result (e.g., improved relationships, pursuing new opportunities). The aim of the present study was to understand the relationship between genetic testing, prodromal HD symptoms, and posttraumatic growth (PTG). Participants were recruited through the multinational PREDICT-HD study (Jane Paulsen, PI) and they completed the Posttraumatic Growth Inventory (PTGI; Tedeschi & Calhoun, 1996) to assess permanent positive psychological change as a result of learning about their HD-gene status. The Symbol Digit Modalities Test (Smith, 1991), Unified Huntington's Disease Rating Scale Motor Exam (Huntington's Study Group, 1996), and the SCl-90-R Depression subscale (Derogatis, 1994) were also completed. A total of 82 gene-expanded patients and 37 non-expanded patients took part in this study. Results revealed that gene-expanded and non-expanded individuals reported experiencing PTG, particularly in their appreciation for life and ability to relate to others. Gene-expanded and non-expanded participants did not differ in the amount of growth they reported, which indicated that the outcome of genetic testing was not related to how much growth people experienced. Age and gender were associated with PTG, with younger participants and women reporting the most growth. The amount of time elapsed since genetic testing, estimated proximity to a diagnosis of HD, and the clinical characteristics of prodromal HD were not related to PTG. In conclusion, people experience positive psychological change as result of genetic testing for HD. The findings of this study have important implications for future research and for mental health professionals assisting people through the genetic counseling process.

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Despite national guidelines, women with a BRCA VUS or CHEK2 pathogenic variant are choosing to have risk-reducing surgeries such as bilateral mastectomies which are not aligned with their level of cancer risk based on genetic test results alone. Semi-structured telephone interviews were conducted with 6 women with a BRCA VUS and 12 with a CHEK2 pathogenic variant exploring the factors influencing their decision-making process when considering medical management options. Patients from a cancer registry agreed to a recorded telephone interview. Coding was performed using the main constructs from the Ottawa Patient Decision Guide including: knowledge, uncertainty, values, and support. Iterative analysis was used to identify emerging themes. Analysis of the interviews revealed overlapping of the four constructs in the decision-making process. The knowledge sought to make medical management decisions was driven by the uncertainty associated with the genetic test results. Participants often contextualized their risk by building on the risk associated with genetic test results with family history, variant re-interpretation, and the knowledge that the risks associated with other genes may be higher. Patients generally made the decision they thought was best for them, even though it was more difficult if that decision was not supported by healthcare providers, friends, or family. When faced with uncertain cancer risks and presented with options for medical management, values were weighed against the negatives of each option. Often mental health was prioritized over the negatives associated with ‘removing body parts’. These findings offer a look into the decisional needs of patients such as accurate knowledge, certainty, decisional support, and attention to personal values. Better understanding of the unmet needs of these patients and working to rectify them through provider education, outreach, counseling strategies to mitigate uncertainty, and research on how to best address and identify each patient’s specific decisional needs can contribute to the goal of risk-appropriate and values-based decision-making. With a better understanding of patients’ decisional needs, healthcare providers can better advocate for tailored counseling sessions which explore and address specific patient needs to help them make informed, risk-appropriate, and value-based medical management decisions.

Identifying individuals with hereditary cancer predisposition can improve health outcomes for patients and their family members through early cancer detection and prevention strategies. Prior research about family sharing of genetic test results among those with hereditary breast cancer has overwhelmingly been limited to the BRCA1 and BRCA2 genes. The present study sought to compare family sharing behaviors in women with pathogenic BRCA variants to women with pathogenic variants in the more recently identified and characterized PALB2 gene. A total of 18 BRCA carriers and 13 PALB2 carriers were interviewed about family sharing practices using a semi-structured guide based on the Integrated Behavioral Model. Barriers and facilitators to family sharing were similar for both BRCA and PALB2 carriers, with logistical difficulties and emotional struggles related to anticipated negative reactions from relatives being the most salient barriers. The most important facilitators were: attitude that sharing enables health protection, provider recommendation, strong family relationships, confidence in sharing basic information, knowledge of what to share and how to share, and belief that sharing is highly important. Given similar attitudes, norms, and control beliefs related to family sharing, similar, but tailored interventions may be effective at increasing family disclosures among both groups. Such interventions should involve a discussion of patients’ attitudes towards sharing with healthcare providers to strengthen motivations and address barriers and provision of informational resources to increase confidence and knowledge. Family sharing resources should clearly specify which relatives need to be informed, why sharing is important, and how at-risk relatives may benefit.

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