Barriers to diverse clinical trial participation in Duchenne muscular dystrophy: Engaging Hispanic/Latina caregivers and health professionals.

BACKGROUND: Despite the increasing availability of clinical trials in Duchenne muscular dystrophy, racial/ethnic minorities and other populations facing health disparities remain underrepresented in clinical trials evaluating products for Duchenne. We sought to understand the barriers faced by Hispanic/Latino families specifically and underrepresented groups more generally to clinical trial participation in Duchenne. METHODS: We engaged two participant groups: Hispanic/Latino caregivers of children with Duchenne in the US, including Puerto Rico, and health professionals within the broader US Duchenne community. Caregiver interviews explored attitudes towards and experiences with clinical trials, while professional interviews explored barriers to clinical trial participation among socio-demographically underrepresented families (e.g., low income, rural, racial/ethnic minority, etc.). Interviews were analyzed aggregately and using a thematic analysis approach. An advisory group was engaged throughout the course of the study to inform design, conduct, and interpretation of findings generated from interviews. RESULTS: Thirty interviews were conducted, including with 12 Hispanic/Latina caregivers and 18 professionals. We identified barriers to clinical trial participation at various stages of the enrollment process. In the initial identification of patients, barriers included lack of awareness about trials and clinical trial locations at clinics that were less likely to serve diverse patients. In the prescreening process, barriers included ineligibility, anticipated non-compliance in clinical trial protocols, and language discrimination. In screening, barriers included concerns about characteristics of the trial, as well as mistrust/lack of trust. In consent and recruitment, barriers included lack of timely decision support, logistical factors (distance, time, money), and lack of translated study materials. CONCLUSIONS: Numerous barriers hinder participation in Duchenne clinical trials for Hispanic/Latino families and other populations experiencing health disparities. Addressing these barriers necessitates interventions across multiple stages of the clinical trial enrollment process. Recommendations to enhance participation opportunities include developing clinical trial decision support tools, translating prominent clinical trials educational resources such as ClinicalTrials.gov, fostering trusting family-provider relationships, engaging families in clinical trial design, and establishing ethical guidelines for pre-screening potentially non-compliant patients.

Beware of the phony horserace between genes and environments.

Although Burt provides a valuable critique of the scientific value of integrating genetic data into social science research, she reinforces rather than disrupts the age-old horserace between genetic effects and environmental effects. We must move past this false dichotomy to create a new ontology that recognizes the ways in which genetic and environmental processes are inextricably intertwined.

Wrestling with Public Input on an Ethical Analysis of Scientific Research.

Bioethicists frequently call for empirical researchers to engage participants and community members in their research, but don't themselves typically engage community members in their normative research. In this article, we describe an effort to include members of the public in normative discussions about the risks, potential benefits, and ethical responsibilities of social and behavioral genomics (SBG) research. We reflect on what might-and might not- be gained from engaging the public in normative scholarship and on lessons learned about public perspectives on the risks and potential benefits of SBG research and the responsible conduct and communication of such research. We also provide procedural lessons for others in bioethics who are interested in engaging members of the public in their research.

Wrestling with Social and Behavioral Genomics: Risks, Potential Benefits, and Ethical Responsibility.

In this consensus report by a diverse group of academics who conduct and/or are concerned about social and behavioral genomics (SBG) research, the authors recount the often-ugly history of scientific attempts to understand the genetic contributions to human behaviors and social outcomes. They then describe what the current science-including genomewide association studies and polygenic indexes-can and cannot tell us, as well as its risks and potential benefits. They conclude with a discussion of responsible behavior in the context of SBG research. SBG research that compares individuals within a group according to a "sensitive" phenotype requires extra attention to responsible conduct and to responsible communication about the research and its findings. SBG research (1) on sensitive phenotypes that (2) compares two or more groups defined by (a) race, (b) ethnicity, or (c) genetic ancestry (where genetic ancestry could easily be misunderstood as race or ethnicity) requires a compelling justification to be conducted, funded, or published. All authors agree that this justification at least requires a convincing argument that a study's design could yield scientifically valid results; some authors would additionally require the study to have a socially favorable risk-benefit profile.

"The elephant in the room": social responsibility in the production of sociogenomics research.

Sociogenomics examines the extent to which genetic differences between individuals relate to differences in social and economic behaviors and outcomes. The field evokes mixed reactions. For some, sociogenomics runs the risk of normalizing eugenic attitudes and legitimizing social inequalities. For others, sociogenomics brings the promise of more robust and nuanced understandings of human behavior. Regardless, a history of misuse and misapplication of genetics raises important questions about researchers' social responsibilities. This paper draws on semi-structured interviews with sociogenomics researchers who investigate intelligence and educational attainment. It does so to understand how researcher's motivations for engaging in a historically burdened field connect to their views on social responsibility and the challenges that come with it. In interviews, researchers highlighted the trade-off between engaging in socially contested research and the potential benefits their work poses to the social sciences and clinical research. They also highlighted the dilemmas of engaging with the public, including the existence of multiple publics. Finally, researchers elucidated uncertainties over what social responsibility is in practice and whether protecting against the misuse and misinterpretation of their research is wholly possible. This paper concludes by offering ways to address some of the challenges of social responsibility in the production of knowledge.

Ethical, anticipatory genomics research on human behavior means celebrating disagreement.

Despite the many social and ethical considerations in human genetics, researchers and communities remain largely siloed as for-profit, direct-to-consumer genetic testing and the application of polygenic scores to in vitro fertilization services become increasingly prevalent. The multifaceted challenges facing genomics, both empirical and ethical, require collaborations that foster critical dialogue and honest debate between communities inside and outside the research enterprise. This piece argues that in order to respond to the premature or inappropriate use of genomic data in industry, the scientific community needs to first embrace, understand, and be in dialogue about its disagreements. We introduce the research framework of adversarial collaboration as a way to celebrate disagreement and productively work toward policy-informed, ethical, and anticipatory genomics research.

Social Equality in an Alternate World.

Genes have long been used to validate social inequality. The Genetic Lottery: Why DNA Matters for Social Equality, by Kathryn Paige Harden, attempts not only to reclaim genetic research on human behavior from its eugenic past but also to argue that genetic research can be used to understand and enhance social equality. This review essay illustrates why embracing a political agenda in which genetics matter for social equality will not in practice advance efforts to reduce social inequality. It argues that the points raised in The Genetic Lottery would be important in an alternate world in which structural inequalities have ceased to exist, but not in the world we live in today.