RESUMEN
Importance: Newborn genome sequencing (NBSeq) can detect infants at risk for treatable disorders currently undetected by conventional newborn screening. Despite broad stakeholder support for NBSeq, the perspectives of rare disease experts regarding which diseases should be screened have not been ascertained. Objective: To query rare disease experts about their perspectives on NBSeq and which gene-disease pairs they consider appropriate to evaluate in apparently healthy newborns. Design, Setting, and Participants: This survey study, designed between November 2, 2021, and February 11, 2022, assessed experts' perspectives on 6 statements related to NBSeq. Experts were also asked to indicate whether they would recommend including each of 649 gene-disease pairs associated with potentially treatable conditions in NBSeq. The survey was administered between February 11 and September 23, 2022, to 386 experts, including all 144 directors of accredited medical and laboratory genetics training programs in the US. Exposures: Expert perspectives on newborn screening using genome sequencing. Main Outcomes and Measures: The proportion of experts indicating agreement or disagreement with each survey statement and those who selected inclusion of each gene-disease pair were tabulated. Exploratory analyses of responses by gender and age were conducted using t and χ2 tests. Results: Of 386 experts invited, 238 (61.7%) responded (mean [SD] age, 52.6 [12.8] years [range 27-93 years]; 126 [52.9%] women and 112 [47.1%] men). Among the experts who responded, 161 (87.9%) agreed that NBSeq for monogenic treatable disorders should be made available to all newborns; 107 (58.5%) agreed that NBSeq should include genes associated with treatable disorders, even if those conditions were low penetrance; 68 (37.2%) agreed that actionable adult-onset conditions should be sequenced in newborns to facilitate cascade testing in parents, and 51 (27.9%) agreed that NBSeq should include screening for conditions with no established therapies or management guidelines. The following 25 genes were recommended by 85% or more of the experts: OTC, G6PC, SLC37A4, CYP11B1, ARSB, F8, F9, SLC2A1, CYP17A1, RB1, IDS, GUSB, DMD, GLUD1, CYP11A1, GALNS, CPS1, PLPBP, ALDH7A1, SLC26A3, SLC25A15, SMPD1, GATM, SLC7A7, and NAGS. Including these, 42 gene-disease pairs were endorsed by at least 80% of experts, and 432 genes were endorsed by at least 50% of experts. Conclusions and Relevance: In this survey study, rare disease experts broadly supported NBSeq for treatable conditions and demonstrated substantial concordance regarding the inclusion of a specific subset of genes in NBSeq.
Asunto(s)
Condroitinsulfatasas , Enfermedades Raras , Masculino , Adulto , Humanos , Recién Nacido , Femenino , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Enfermedades Raras/diagnóstico , Enfermedades Raras/genética , Tamizaje Neonatal , Padres , Sistema de Transporte de Aminoácidos y+L , Proteínas de Transporte de Monosacáridos , AntiportadoresRESUMEN
Overweight and obese children continue to be a growing problem, and differences exist, especially among racial and ethnic groups. Even though a poor diet and lack of physical activity are attributable factors to being overweight among children, indications exists that geographic location may also be important. In rural areas in the United States, childhood obesity is often higher than the national average. This study analyzed dietary, physical, activity, and lifestyle behaviors of rural African American children and their risk for becoming overweight. This study is a cross-sectional convenience sample of 98 students from a rural county in South Carolina in 2002. Findings showed rural female children were significantly more likely than rural male children to engage in physical activity for at least 20 minutes per day (odds ratio, 5.57; p = .0056). Given the increase in the prevalence of obesity especially among minority populations, the need exists to develop culturally appropriate nutrition and exercise interventions to assistchildren in a healthy weight loss attempt. Increased prevalence of obesity and other diseases among African Americans warrants aggressive interventions to reduce risk factors in this vulnerable population.
Asunto(s)
Dieta , Estilo de Vida , Actividad Motora , Obesidad/prevención & control , Distribución de Chi-Cuadrado , Niño , Estudios Transversales , Características Culturales , Encuestas sobre Dietas , Femenino , Humanos , Masculino , Obesidad/epidemiología , Prevalencia , Factores de Riesgo , Población Rural , South Carolina/epidemiologíaRESUMEN
The Rhythm Experience and Africana Culture Trial (REACT!) is a multi-site randomized controlled intervention study designed to examine the efficacy of using African Dance as a form of moderate-intensity physical activity to improve cognitive function in older African Americans. African Americans are almost two times more likely than Caucasians to experience cognitive impairment in late adulthood. This increased risk may be attributed to lower level and quality of education, lower socioeconomic status, and higher prevalence of vascular diseases, type 2 diabetes, hypertension, and obesity, all of which are recognized as risk factors for dementia. Fortunately, interventions targeting cardiovascular health (i.e., physical activity) are associated with improved neurocognitive function and a reduced risk for dementia, so African Americans may be particularly suited for interventions targeting cardiovascular health and cognitive function. Here, we describe a randomized intervention protocol for increasing physical activity in older (65-75years) African Americans. Participants (n=80) at two study locations will be randomized into one of two groups. The treatment group will participate in African Dance three times per week for six months and the control group will receive educational training on Africana history and culture, as well as information about health behaviors, three times per week for six months. If successful, the REACT! study may transform community interventions and serve as a platform and model for testing other populations, age groups, and health outcomes, potentially identifying novel and creative methods for reducing or eliminating health disparities.