JPB Foundation

Abstract Background Rare diseases are frequently associated with prolonged diagnostic odysseys and fragmented care, requiring coordination across multiple specialties and often leaving families to bridge gaps in medical knowledge among providers. Chromosome 8p disorders, caused by diverse structural rearrangements, exemplify these challenges, as clinical manifestations and management needs vary widely across genetic subgroups. Although natural history studies (NHSs) systematically collect longitudinal and genotype-phenotype data, these insights are seldom translated into practical, patient-centered tools that directly inform day-to-day clinical care. Results We developed the 8p Patient Passport, an automated tool that generates individualized clinical and genomic summaries and anchors each finding within subgroup-specific reference data derived from the Project 8p NHS. Each passport integrates detailed genomic information, including precise 8p rearrangement coordinates, together with developmental, behavioral, and comorbidity data, and presents these findings in the context of the individual’s representative genetic subgroup. The automated R/LaTeX pipeline produces personalized, plain-language summaries for families and providers within one minute per case. Forty-two passports were generated across three molecular subgroups and distributed to the families that participated in the NHS: inverted duplication/deletion (n = 30), interstitial deletion (n = 10), and duplication (n = 2). In a post-deployment survey, caregivers rated the Passport highly for clarity (mean 4.8/5), accessibility (4.8/5), and usefulness (4.2/5), emphasizing its value for communicating with healthcare and educational teams and for understanding their child’s presentation in relation to peers. Conclusions The 8p Patient Passport bridges rare-disease research and clinical care by transforming NHS data into individualized, context-aware care tools. By pairing patient-level data with subgroup-specific reference distributions, it supports personalized interpretation, facilitates care coordination, and empowers families as active participants in medical decision-making. This framework lays the groundwork for scalable, interoperable applications across rare-disease communities, aligning with global efforts to advance patient-centered precision medicine.

To evaluate the predictors of postpartum depression and to examine the effects of maternal racial identity on postpartum depression among women with low incomes in the United States. We conducted a secondary data analysis using baseline data from the Baby's First Years study, including postpartum women living below the federal poverty line who were recruited from four diverse communities in the United States. Postpartum depression symptoms were assessed using the Center for Epidemiologic Studies Depression Scale (CES-D). Logistic regressions were performed to identify associations between pre-identified postpartum depression risk factors and postpartum depression among participants, followed by predictive margins analyses to elaborate on probability of postpartum depression across different racial identity groups in the sample. The sample included 1,051 postpartum women. Almost one-half of participants identified as Black (45.9%), followed by White (20.7%), American Indian (1.8%), and Asian (1.3%). Prevalence of postpartum depression in the sample was 24%. Financial insecurity and alcohol use were positively associated with postpartum depression, whereas level of education and reported physical health were negatively associated with postpartum depression. Mothers who identified as Black had an 8.3% higher probability of postpartum depression than that of White mothers in the sample. Nurses working with populations with low income should assess social determinants of health to provide holistic mental health care. Women with low incomes should be referred to resources which account for their financial burden. Racial disparities exist in perinatal care, and birth and postpartum mental health outcomes. It is crucial to address the systemic racism faced by Black mothers experiencing postpartum depression.