RESUMEN
The increasing availability of novel therapies highlights the importance of screening newborns for rare genetic disorders so that they may benefit from early therapy, when it is most likely to be effective. Pilot newborn screening (NBS) studies are a way to gather objective evidence about the feasibility and utility of screening, the accuracy of screening assays, and the incidence of disease. They are also an optimal way to evaluate the complex ethical, legal and social implications (ELSI) that accompany NBS expansion for disorders. ScreenPlus is a consented pilot NBS program that aims to enroll over 100,000 infants across New York City. The initial ScreenPlus panel includes 14 disorders and uses an analyte-based, multi-tiered screening platform in an effort to enhance screening accuracy. Infants who receive an abnormal result are referred to a ScreenPlus provider for confirmatory testing, management, and therapy as needed, along with longitudinal capture of outcome data. Participation in ScreenPlus requires parental consent, which is obtained in active and passive manners. Patient-facing documents are translated into the ten most common languages spoken at our nine pilot hospitals, all of which serve diverse communities. At the time of consent, parents are invited to receive a series of online surveys to capture their opinions about specific ELSI-related topics, such as NBS policy, residual dried blood spot retention, and the types of disorders that should be on NBS panels. ScreenPlus has developed a stakeholder-based, collective funding model that includes federal support in addition to funding from 14 advocacy and industry sponsors, all of which have a particular interest in NBS for at least one of the ScreenPlus disorders. Taken together, ScreenPlus is a model, multi-sponsored pilot NBS program that will provide critical data about NBS for a broad panel of disorders, while gathering key stakeholder opinions to help guide ethically sensitive decision-making about NBS expansion.
RESUMEN
The ability to screen newborns for a larger number of disorders, including many with variable phenotypes, is prompting debate regarding the psychosocial impact of expanded newborn bloodspot screening (NBS) on parents. This study compares psychological outcomes of parents of children with a range of NBS/diagnostic experiences, with a particular focus on lysosomal storage disorders (LSDs) and X-linked adrenoleukodystrophy (X-ALD) as representative disorders with complex presentations. An online cross-sectional survey with six domains was completed in 2019 by a volunteer sample of parents with at least one child born between 2013 and 2018. Parents were classified in the analysis stage into four groups based on their child's rare disorder and means of diagnosis. Stress and depression were estimated using dichotomous measures of the depression subscale of the Hospital Anxiety and Depression Scale and the Parental Stress Scale. Logistic regression models were estimated for the relationship between the parent group and stress/depression, controlling for demographic variables (region of the US, income, education, major life events, relationship to the child, number of children, parent age, and race/ethnicity). One hundred seventy-four parents were included in this analysis. Parents of children with an LSD or X-ALD diagnosis clinically may have higher odds of depression (OR: 6.06, 95% CI: 1.64-24.96) compared to parents of children with the same disorders identified through NBS, controlling for covariates. Although a similar pattern was observed for parental stress (OR: 2.85, 95% CI: 0.82-10.37), this did not reach statistical significance. Ethically expanding NBS and genome sequencing require an understanding of the impacts of early detection for complex disorders on families. These initial findings are reassuring, and may have implications as NBS expands. Given our small sample size, it is difficult to generalize these findings to all families. These preliminary trends warrant further investigation in larger and more diverse populations.
RESUMEN
INTRODUCTION: Intimate partner violence (IPV) is the most common form of violence women experience globally. Economic empowerment interventions have been implemented across countries to prevent and address IPV, with mixed results. A sociological 'male-backlash' model suggests that addressing unequal gender norms is crucial to reduce IPV. This study evaluates the impact of a multipronged intervention among heterosexual couples in urban and periurban Ibadan that aimed at reducing IPV by increasing financial and reproductive literacy, fostering gender equality and improving relationship quality. METHODS: A four-arm mixed-methods cluster randomised control trial was employed. Baseline data and end line data six months postintervention were collected to estimate changes in key outcomes. In-depth interviews were conducted with 15 couples 2 years postintervention to explore the drivers of changes in outcomes. Difference-in-differences regression models were estimated to compare changes in IPV levels across the three intervention arms and control arm, and thematic analysis was conducted to understand drivers of change in IPV outcomes. RESULTS: Physical IPV decreased significantly in the gender socialisation (GS) (ß: -4.63 (SE: 2.12)) and GS and financial literacy (ß: -4.61 (SE: 2.02)) groups as compared with the control group. Changes in emotional and sexual IPV were marginally significant or insignificant, respectively, suggesting that the intervention did not have an impact on non-physical forms of IPV. In the in-depth interviews, couples reported improved communication and trust, enhanced conflict management skills, and increased mutual respect as a result of participation across intervention arms, which may have facilitated the reduction of violence in their relationships. CONCLUSION: This study highlights the potential utility of gender transformative interventions for improving physical IPV outcomes. Future research should seek to understand the mechanisms that influence sexual and emotional IPV as their aetiology may be different from physical violence. TRAIL REGISTRATION NUMBER: The study protocol was registered at ClinicalTrials.gov (ID: NCT03888495).
