A scoping review exploring cure definitions and language for inherited hemoglobinopathies.

Purpose: Sickle cell disease and beta thalassemia are some of the first targets for potentially curative cell-based therapies. Currently, bone marrow transplants, stem cell transplants, and gene therapy are being researched and utilized for people living with these hemoglobinopathies. Although these therapies are often described as curative, there is not a clear definition of what cure means for these hemoglobinopathies. Methods: Five databases were searched for this scoping review. Two reviewers screened each article at the title/abstract and full text levels using Covidence. Articles were included if they were (1) about bone marrow transplants, stem cell transplants, or gene therapy; (2) conditions of focus were sickle cell disease or beta thalassemia; and (3) reported original data on clinical outcomes, psychosocial outcomes, or key stakeholder perspectives and opinions. Data were collected by 2 reviewers also using Covidence, and analyses were conducted in Excel and R. Results: We found that, although cure is widely and indiscriminately used, it is not often defined, and when cure is defined, there is no clear convergence or consensus on the definition. Furthermore, cure is often qualified and undefined euphemisms for cure are often used. We also report the major ways in which the success and complications of these treatment modalities are described. Conclusion: We frame the significance of our findings by discussing their scientific, ethical, and social implications and focus on the need for precise and clear terminology that centers lived experience and acknowledges the interplay between scientific and lay expertise and perceptions.

Identifying latent themes in suicide among black and white adolescents and young adults using the National Violent Death Reporting System, 2013-2019.

Suicide rates for adolescents and young adults (AYA) have risen dramatically in recent years - by almost 60% for Americans aged 10-24 years between 2007 and 2018. This increase has occurred for both whites and Blacks, with the rise in suicide among Black youth of particular note. Blacks historically exhibit lower rates of suicide relative to whites and thus, less is known about the etiology of Black suicide. To gain insight into the underlying causes of suicide among AYA, we examine medical examiner reports from the National Violent Death Reporting System (NVDRS) from 2013 to 2019 for over 26,000 Black and white suicide decedents ages 10-29. We apply structural topic modeling (STM) approaches to describe the broad contours of AYA suicide in the United States today. Our findings reveal distinct patterns by race. Guns, violence and the criminal justice system are prominent features of Black suicide, whether through the mechanism used in the suicide, either by firearm or other violent means such as fire or electrocution, the existence of criminal or legal problems/disputes, the location of death in a jail, or the presence of police. In contrast, the narratives of white AYA are more likely to reference mental health or substance abuse problems. Access to resources, as measured by county median household income, overlay these patterns. Themes more prevalent among Blacks are more common in poorer counties; those more prevalent among whites tend to be more common in wealthier counties. Our findings are consistent with other studies that suggest Black people experience greater exposure to violence and other traumas, systemic racism and interpersonal discrimination that may elevate the risk for suicidal behavior.

Lived experience with sickle cell disease: Predictors of altruistic participation in clinical research.

Researchers have found that research altruism motivates research participation, but little is known about what aspects of lived experience motivate this socially focused altruistic participation when participation emerges at the intersection of illness, identity, and injustice. This study examines adults living with sickle cell disease (n = 235) in the United States enrolled in the INSIGHTS clinical research study to investigate what aspects of the sickle cell disease lived experience, understood here as pain and illness perception, are associated with reporting subsidiary and primary altruistic motivations for participating in clinical research. Results from two binary logistic regressions indicate that pain frequency is positively associated with greater odds of reporting subsidiary altruistic motivations, and pain frequency and pain severity are positively associated with greater odds of citing primary altruistic motivations. Conversely, pain interference and illness perception are associated with lower odds of reporting primary altruistic motivations. These results reveal that for this racialized population, participation, although overwhelmingly altruistic, is rooted in an experience of persistent pain. Researchers must disentangle measures of lived experience in order to better understand what factors underlie and prevent participation.

A justice-based argument for including sickle cell disease in CRISPR/Cas9 clinical research.

CRISPR/Cas9 is quickly becoming one of the most influential biotechnologies of the last five years. Clinical trials will soon be underway to test whether CRISPR/Cas9 can edit away the genetic mutations that cause sickle cell disease (SCD). This article will present the background of CRISPR/Cas9 gene editing and SCD, highlighting research that supports the application of CRISPR/Cas9 to SCD. While much has been written on why SCD is a good biological candidate for CRISPR/Cas9, less has been written on the ethical implications of including SCD in CRISPR/Cas9 research. This article will argue that there is a strong case in favor of including SCD. Three benefits are achieving distributive justice in research, continuing to repair the negative relationship between patients with SCD and the health-care system, and benefit-sharing for those who do not directly participate in CRISPR/Cas9 research. Opponents will argue that SCD is a risky candidate, that researchers will not find willing participants, and that the burden of SCD is low. Of this set of arguments, the first gives pause. However, on balance, the case in favor of including SCD in CRISPR/Cas9 research is stronger than the case against. Ultimately, this article will show that the historic and sociopolitical injustices that impede progress in treating and curing SCD can be alleviated through biotechnology.