A Novel Mixed-Methods Approach to Examine the Complexities of Reproductive Genetics Decision-Making from the Perspectives of Women and Genetic Counselors

Abstract

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.