Motherhood in the context of Fragile X syndrome: implications for caregiving, work, and romantic-partner relationships

This dissertation reports on findings from a qualitative analysis of mothers' accounts of caregiving, work, and couple relationships in the context of having one or more children with special needs, based on semi-structured interview data (n=57) from the Family Adaptation to Fragile X Syndrome Study. Each family involved in the study had at least one child diagnosed with fragile X syndrome, the leading inherited cause of intellectual disability. Additional semi-structured interviews were conducted with a subset of respondents (n=15), and data displaying work and family changes over time were collected. Findings reveal that one aspect of mothers' experiences was a profound sense of responsibility for advancing their children's development in multiple areas. Findings regarding work-family interplay describe juggling that took place within families and between work and family domains; the concept of articulation work is used to illuminate families' experiences. Employment decisions by families are shown to relate to configurations of resources and demands in both work and family domains, and results show how families make use of strategies to influence fit between work and family domains. Findings also suggest that for some, alignment on parenting is significant in assessments of couple relationships, and that there may be certain complexities associated with aligning on parenting when children have special needs. Together, these findings provide insight into commonalities as well as variation in mothers' perspectives and experiences, and contribute to literature on caregiving, work-family interplay, and romantic-partner relationships

Prospective Biorepository Participants' Perspectives on Access to Research Results

Disclosure of individual research results to research participants has been the subject of professional guidelines as well as scholarly commentary, yet controversy remains. To gather data on participant perspectives, we interviewed 40 individuals from the Durham, North Carolina area about a biorepository consent form and conducted an in-depth analysis of responses to a series of questions concerning access to research results. Cross-cutting themes emerged about (1) the nature of research; (2) the nature of research results; (3) expectations concerning access to research results; and (4) practical issues in providing access to research results. Our findings highlight the importance for sound policy development of soliciting stakeholder input, and exploring the complexities behind their evaluations

Who trusts? Race, gender, and the September 11 rally effect among young adults

First proposed by Mueller, the theory of the “rally effect” predicts that public support for government officials will increase when an event occurs that (1) is international; (2) involves the United States; and (3) is specific, dramatic, and sharply focused (Mueller 1973, p. 209). Using the natural experiment of a large (N=15,127) survey of young adults ages 18-27 that was in the field during the September 11, 2001, terrorist attacks, we confirm the existence of a rally effect on trust in government as well as its subsequent decay. We then use a predictive modeling approach to investigate individual-level dynamics of rallying around the flag and anti-rallying in the face of the national threat. By disaggregating predictors of rallying, we demonstrate remarkably different patterns of response to the attacks based on sex and, particularly, race. The results confirm expectations of national threat inciting a rally effect, but indicate that the dynamics of this rally effect are complex and race and gender-dependent. The article offers previously-unavailable insights into the dynamics of rallying and trust in government

Genomics Education for the Public: Perspectives of Genomic Researchers and ELSI Advisors

Aims: For more than two decades genomic education of the public has been a significant challenge. As genomic information becomes integrated into daily life and routine clinical care, the need for public education is even more critical. We conducted a pilot study to learn how genomic researchers and ethical, legal, and social implications advisors who were affiliated with large-scale genomic variation studies have approached the issue of educating the public about genomics. Methods/Results: Semi-structured telephone interviews were conducted with researchers and advisors associated with the SNP/HAPMAP studies and the Cancer Genome Atlas Study. Respondents described approach(es) associated with educating the public about their study. Interviews were audio-recorded, transcribed, coded, and analyzed by team review. Although few respondents described formal educational efforts, most provided recommendations for what should/could be done, emphasizing the need for an overarching entity(s) to take responsibility to lead the effort to educate the public. Opposing views were described related to: who this should be; the overall goal of the educational effort; and the educational approach. Four thematic areas emerged: What is the rationale for educating the public about genomics?; Who is the audience?; Who should be responsible for this effort?; and What should the content be? Policy issues associated with these themes included the need to agree on philosophical framework(s) to guide the rationale, content, and target audiences for education programs; coordinate previous/ongoing educational efforts; and develop a centralized knowledge base. Suggestions for next steps are presented. Conclusion: A complex interplay of philosophical, professional, and cultural issues can create impediments to genomic education of the public. Many challenges, however, can be addressed by agreement on a guiding philosophical framework(s) and identification of a responsible entity(s) to provide leadership for developing/overseeing an appropriate infrastructure to support the coordination/integration/sharing and evaluation of educational efforts, benefiting consumers and professionals

IRB perspectives on the return of individual results from genomic research

Return of individual research results from genomic studies is a hotly debated ethical issue in genomic research. However, the perspective of key stakeholders—Institutional Review Board (IRB) reviewers—has been missing from this dialogue. This study explores the positions and experiences of IRB members and staff regarding this issue

Genomics Education for the Public: Perspectives of Genomic Researchers and ELSI Advisors

Aims: For more than two decades genomic education of the public has been a significant challenge. As genomic information becomes integrated into daily life and routine clinical care, the need for public education is even more critical. We conducted a pilot study to learn how genomic researchers and ethical, legal, and social implications advisors who were affiliated with large-scale genomic variation studies have approached the issue of educating the public about genomics. Methods/Results: Semi-structured telephone interviews were conducted with researchers and advisors associated with the SNP/HAPMAP studies and the Cancer Genome Atlas Study. Respondents described approach(es) associated with educating the public about their study. Interviews were audio-recorded, transcribed, coded, and analyzed by team review. Although few respondents described formal educational efforts, most provided recommendations for what should/could be done, emphasizing the need for an overarching entity(s) to take responsibility to lead the effort to educate the public. Opposing views were described related to: who this should be; the overall goal of the educational effort; and the educational approach. Four thematic areas emerged: What is the rationale for educating the public about genomics?; Who is the audience?; Who should be responsible for this effort?; and What should the content be? Policy issues associated with these themes included the need to agree on philosophical framework(s) to guide the rationale, content, and target audiences for education programs; coordinate previous/ongoing educational efforts; and develop a centralized knowledge base. Suggestions for next steps are presented. Conclusion: A complex interplay of philosophical, professional, and cultural issues can create impediments to genomic education of the public. Many challenges, however, can be addressed by agreement on a guiding philosophical framework(s) and identification of a responsible entity(s) to provide leadership for developing/overseeing an appropriate infrastructure to support the coordination/integration/sharing and evaluation of educational efforts, benefiting consumers and professionals

IRB perspectives on the return of individual results from genomic research

PURPOSE: Return of individual research results from genomic studies is a hotly debated ethical issue in genomic research. However, the perspective of key stakeholders—Institutional Review Board (IRB) reviewers—has been missing from this dialogue. This study explores the positions and experiences of IRB members and staff regarding this issue. METHODS: In depth interviews with 31 IRB professionals at six sites across the United States. RESULTS: IRB professionals agreed that research results should be returned to research participants when results are medically actionable but only if the participants wanted to know the result. Many respondents expected researchers to address the issue of return of results (ROR) in the IRB application and informed-consent document. Many respondents were not comfortable with their expertise in genomics research, and only a few described actual experiences in addressing ROR. Although participants agreed that guidelines would be helpful, most were reticent to develop them in isolation. Even where IRB guidance exists (e.g., CLIA lab certification required for return), in practice, the guidance has been overruled to allow return (e.g., no CLIA lab performs the assay). CONCLUSION: An IRB-researcher partnership is needed to help inform responsible and feasible institutional approaches to returning research results