Towards a Newborn Screening Common Data Model: The Utah Newborn Screening Data Model.
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ABSTRACT:
SUBMITTER: Jones D
PROVIDER: S-EPMC8628929 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Scope:Jurisdictional-based Early Hearing Detection and Intervention Information Systems (EHDI-IS) collect data on the hearing screening and follow-up status of infants across the United States. These systems serve as tools that assist EHDI programs' staff and partners in their tracking activities and provide a variety of data reports to help ensure that all children who are deaf/hard of hearing (DHH) are identified early and receive recommended intervention services. The quality and timeliness of the data collected with these systems are crucial to effectively meeting these goals. Methodology:Forty-eight EHDI programs, funded by the Centers for Disease Control and Prevention (CDC), successfully evaluated the accuracy, completeness, uniqueness, and timeliness of the hearing screening data as well as the acceptability (i.e., willingness to report) of the EHDI-IS among data reporters (2013-2016). This article describes the evaluations conducted and presents the findings from these evaluation activities. Conclusions:Most state EHDI programs are receiving newborn hearing screening results from hospitals and birthing facilities in a consistent way and data reporters are willing to report according to established protocols. However, additional efforts are needed to improve the accuracy and completeness of reported demographic data, results from infants transferred from other hospitals, and results from infants admitted to the Neonatal Intensive Care Unit.
| S-EPMC6945814 | biostudies-literature
Project description:The Cleveland-Lloyd Dinosaur Quarry (CLDQ) is the densest deposit of Jurassic theropod dinosaurs discovered to date. Unlike typical Jurassic bone deposits, it is dominated by the presence of Allosaurus fragilis. Since excavation began in the 1920s, numerous hypotheses have been put forward to explain the taphonomy of CLDQ, including a predator trap, a drought assemblage, and a poison spring. In an effort to reconcile the various interpretations of the quarry and reach a consensus on the depositional history of CLDQ, new data is required to develop a robust taphonomic framework congruent with all available data. Here we present two new data sets that aid in the development of such a robust taphonomic framework for CLDQ. First, x-ray fluorescence of CLDQ sediments indicate elevated barite and sulfide minerals relative to other sediments from the Morrison Formation in the region, suggesting an ephemeral environment dominated by periods of hypereutrophic conditions during bone accumulation. Second, the degree of abrasion and hydraulic equivalency of small bone fragments dispersed throughout the matrix were analyzed from CLDQ. Results of these analyses suggest that bone fragments are autochthonous or parautochthonous and are derived from bones deposited in the assemblage rather than transported. The variability in abrasion exhibited by the fragments is most parsimoniously explained by local periodic re-working and re-deposition during seasonal fluctuations throughout the duration of the quarry assemblage. Collectively, these data support previous interpretations that the CLDQ represents an attritional assemblage in a poorly-drained overbank deposit where vertebrate remains were introduced post-mortem to an ephemeral pond during flood conditions. Furthermore, while the elevated heavy metals detected at the Cleveland-Lloyd Dinosaur Quarry are not likely the primary driver for the accumulation of carcasses, they are likely the result of multiple sources; some metals may be derived from post-depositional and diagenetic processes, and others are potentially produced from an abundance of decomposing vertebrate carcasses. These new data help to support the inferred depositional environment of the quarry as an ephemeral pond, and represent a significant step in understanding the taphonomy of the bonebed and Late Jurassic paleoecology in this region.
| S-EPMC5463971 | biostudies-literature
Project description:PurposeGenetic testing for pediatric cancer predisposition syndromes (CPS) could augment newborn screening programs, but with uncertain benefits and costs.MethodsWe developed a simulation model to evaluate universal screening for a CPS panel. Cohorts of US newborns were simulated under universal screening versus usual care. Using data from clinical studies, ClinVar, and gnomAD, the presence of pathogenic/likely pathogenic (P/LP) variants in RET, RB1, TP53, DICER1, SUFU, PTCH1, SMARCB1, WT1, APC, ALK, and PHOX2B were assigned at birth. Newborns with identified variants underwent guideline surveillance. Survival benefit was modeled via reductions in advanced disease, cancer deaths, and treatment-related late mortality, assuming 100% adherence.ResultsAmong 3.7 million newborns, under usual care, 1,803 developed a CPS malignancy before age 20. With universal screening, 13.3% were identified at birth as at-risk due to P/LP variant detection and underwent surveillance, resulting in a 53.5% decrease in cancer deaths in P/LP heterozygotes and a 7.8% decrease among the entire cohort before age 20. Given a test cost of $55, universal screening cost $244,860 per life-year gained; with a $20 test, the cost fell to $99,430 per life-year gained.ConclusionPopulation-based genetic testing of newborns may reduce mortality associated with pediatric cancers and could be cost-effective as sequencing costs decline.
| S-EPMC8263476 | biostudies-literature
Project description:BACKGROUND:Newborn screening (NBS) aims to achieve early identification and treatment of affected infants prior to onset of symptoms. The timely completion of each step (i.e., specimen collection, transport, testing, result reporting), is critical for early diagnosis. Goals developed by the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) for NBS timeliness were adopted (time-critical results reported by five days of life, and non-time-critical results reported by day seven), and implemented into a multi-year quality improvement initiative (NewSTEPS 360) aimed to decrease the time to result reporting and intervention. METHODS:The NBS system from specimen collection through reporting of results was assessed (bloodspot specimen collection, specimen shipping, sample testing, and result reporting). Annual data from 25 participating NBS programs were analyzed; the medians (and interquartile range, IQR) of state-specific percent of specimens that met the goal are presented. RESULTS:The percent of specimens collected before 48 hours of life increased from 95% (88-97%) in 2016 to 97% (IQR 92-98%) in 2018 for the 25 states, with 20 (80%) of programs collecting more than 90% of the specimens within 48 hours of birth. Approximately 41% (IQR 29-57%) of specimens were transported within one day of collection. Time-critical result reporting in the first five days of life improved from 49% (IQR 26-74%) in 2016 to 64% (42%-71%) in 2018, and for non-time critical results from 64% (IQR 58%-78%) in 2016 to 81% (IQR 68-91%) in 2018. Laboratories open seven days a week in 2018 reported 95% of time-critical results within five days, compared to those open six days (62%), and five days (45%). CONCLUSION:NBS programs that participated in NewSTEPs 360 made great strides in improving timeliness; however, ongoing quality improvement efforts are needed in order to ensure all infants receive a timely diagnosis.
| S-EPMC7117765 | biostudies-literature
Project description:IntroductionNewborn bloodspot screening (NBS) involves testing a small sample of blood taken from the heel of the newborn for a number of serious and life-limiting conditions. In Canada, newborn screening programmes fall under provincial and territorial jurisdiction with no federal coordination. To date, we know very little about the underlying beliefs around different consent practices or how terminology is interpreted by different individuals. Differences in attitudes may have important healthcare consequences. This study will provide empirical data comparing stakeholder opinions on their understanding of consent-related terminology, the perceived applicability of different consent approaches to newborn screening, and the requirements of these different approaches.Methods and analysisParents, healthcare professionals and policymakers will be recruited in the provinces of Ontario and Newfoundland and Labrador. Parents will be identified through records held by each provincial screening programme. Healthcare professionals will be purposively sampled on the basis of engagement with newborn screening. Within each province we will identify policymakers who have policy analysis or advisory responsibilities relating to NBS. Data collection will be by qualitative interviews. We will conduct 20 interviews with parents of young children, 10 interviews with key healthcare professionals across the range of appropriate specialties and 10 with policymakers at each site (40 per site, total, N=80). The examination of the transcripts will follow a thematic analysis approach. Recruitment started in June 2014 and is expected to be complete by June 2015.Ethics and disseminationThis study received ethics approval from the Ottawa Health Science Network Research Ethics Board, the Children's Hospital of Eastern Ontario Research Ethics Board (both Ontario), and the Health Research Ethics Authority (Newfoundland and Labrador).ResultsThese will be reported in peer-reviewed publications and conference presentations. The results will have specific application to the development of parent education materials for newborn screening.
| S-EPMC4244491 | biostudies-literature
Project description:BackgroundAdherence to cancer screening is important for cancer survivors because they are at high risk of subsequent cancer diagnoses or recurrence. We assessed adherence to breast, cervical, and colorectal cancer-(CRC)-screening guidelines and evaluated demographic disparities among a population-based sample of survivors.MethodsA representative sample of Utah survivors diagnosed from 2012-2018 with any reportable invasive cancer was selected from central cancer registry records for a survey about survivorship needs. We estimated the proportion of eligible survivors adhering to U.S. Preventive Services Task Force screening guidelines and calculated risk ratios and 95% confidence intervals. Analyses were age-adjusted and weighted to account for sample design and nonresponse.ResultsAnd 1421 survivors completed the survey (57.2% response rate). Screening adherence was 74.4% for breast, 69.4% for cervical, and 79.7% for CRC. Rural residents were more likely to adhere to breast cancer screening than urban residents (86.1% vs. 72.7%; adjusted RR = 1.19, CI = 1.05, 1.36). Higher educational attainment was associated with increased adherence to cervical and colorectal cancer screening. Younger age was associated with greater adherence to cervical cancer screening (p = 0.006) but lower adherence to CRC screening (p = 0.003). CRC screening adherence was lower among the uninsured and those without a primary care provider (45.6%) compared to those with a regular provider (83.0%; adjusted RR = 0.57, CI = 0.42, 0.79).ConclusionsSurveys based on samples from central cancer registries can provide population estimates to inform cancer control. Findings demonstrate work is needed to ensure all Utah cancer survivors obtain recommended cancer screenings. Efforts should focus particularly on increasing uptake of breast and cervical cancer screening and reducing demographic disparities in CRC screening.PrecisDespite high risk for subsequent cancer diagnosis, Utah cancer survivors are not all obtaining recommended breast, cervical, and colorectal cancer screenings. This presents a significant healthcare gap.
| S-EPMC9939153 | biostudies-literature
Project description:Glycogen storage disease type II (also known as Pompe disease (PD)) is an autosomal recessive disorder caused by defects in ?-glucosidase (A?Glu), resulting in lysosomal glycogen accumulation in skeletal and heart muscles. Accumulation and tissue damage rates depend on residual enzyme activity. Enzyme replacement therapy (ERT) should be started before symptoms are apparent in order to achieve optimal outcomes. Early initiation of ERT in infantile-onset PD improves survival, reduces the need for ventilation, results in earlier independent walking, and enhances patient quality of life. Newborn screening (NBS) is the optimal approach for early diagnosis and treatment of PD. In NBS for PD, measurement of A?Glu enzyme activity in dried blood spots (DBSs) is conducted using fluorometry, tandem mass spectrometry, or digital microfluidic fluorometry. The presence of pseudodeficiency alleles, which are frequent in Asian populations, interferes with NBS for PD, and current NBS systems cannot discriminate between pseudodeficiency and cases with PD or potential PD. The combination of GAA gene analysis with NBS is essential for definitive diagnoses of PD. In this review, we introduce our experiences and discuss NBS programs for PD implemented in various countries.
| S-EPMC7423004 | biostudies-literature
Project description:Genetic screening is an advanced tool for reducing recessive disease burden. Nowadays, it is still unclear as to the number of genes or their variants that are necessary for effective screening. This paper describes the development of a carrier screening custom panel for cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss consisting of 116 variants in the CFTR, PAH, SERPINA1, and GJB2 genes. The approach is based on the cheapest and fastest method, on using a small number of genes, and on the estimation of the effectiveness of carriers' detection. The custom panel was tested on a population-based cohort that included 1244 participants. Genotypes were determined by the TaqMan OpenArray Genotyping platform on the QuantStudio 12K Flex Real-Time PCR System. The frequency of heterozygotes in the Russian population was 16.87% or 1:6 (CI95%: 14.76-19.00% by Clopper-Pearson exact method): in CFTR-2.81% (1:36), PAH-2.33% (1:43), SERPINA1-4.90% (1:20), and GJB2-6.83% (1:15). The data on allele frequencies were obtained for the first time on a Russian population. The panel allows us to identify the vast majority of carriers of recessive diseases in the population. It is an effective approach to carrier screening for common recessive diseases.
| S-EPMC7563953 | biostudies-literature
Project description:Incidence for the branched-chain intoxication-type disorders, maple syrup urine disease, propionic acidemia and methlymalonic aciduria is dependent on the population screened. Here newborn screening results from three world regions, state screening laboratories in the United States, a region in Germany and Kuwait provides new incidence numbers. Maple syrup urine disease incidence in the United States was calculated to be 1: 220219, in South-West Germany 1: 119573 (Germany nationwide 1:177978), and in Kuwait 1: 59426. Incidence of propionic acidemia alone is calculated to be 1: 242741 in the United States, 1: 284450 in South-West Germany (Germany nationwide 1:202617) and 1:59426 in Kuwait. Incidence of isolated methylmalonic aciduria alone is 1:69354 in the United States, 1:568901 in South-West Germany (Germany nationwide 1:159199) and 1: 19809 in Kuwait. In the United States several newborn screening laboratories combine their results for propionic acidemia and methylmalonic aciduria, and also include combined remethylation disorders in the respective category, resulting in an incidence of 1:50709. Combined evaluation of methylmalonic aciduria, propionic aciduria and combined remethylation disorders results in a similar incidence for Germany of 1:67539. This evaluation of newborn screening incidences reflects some population differences for three intoxication-type metabolic disorders. However, different sample sizes of the populations screened over different time periods, and differences in case definitions for methylmalonic acidurias have to be considered when interpreting these data.
| S-EPMC6047110 | biostudies-literature
Project description:The expansion of newborn screening (NBS) has been accompanied by debate about what benefits should be achieved and the role of parental discretion in their pursuit. The opportunity to inform parents of reproductive risks is among the most valued additional benefits gained through NBS, and assumes prominence where the primary goal of identifying a treatable condition is not assured. We reviewed 53 unique guidelines addressing prenatal, preconception and newborn screening to examine: (1) how generating reproductive risk information is construed as a benefit of screening; and (2) what conditions support the realization of this benefit. Most preconception and prenatal guidelines - where generating reproductive risk information is described as a primary benefit - required that individuals be given a 'cascade of choices', ensuring that each step in the decision-making process was well informed, from deciding to pursue information about reproductive risks to deciding how to manage them. With the exception of three guidelines, NBS policy infrequently attended to the potential for reproductive benefits; further, most guidelines that acknowledged such benefits construed voluntarism narrowly, without attention to the choices attendant on receiving reproductive risk information. This review suggests that prenatal and preconception guidance identifies a coherent framework to support the pursuit of reproductive benefits through population screening programmes. Interestingly, attention to reproductive benefits is increasing among NBS guidance, yet reflection on how such benefits ought to be pursued remains limited. Traditional norms for NBS may require reconsideration where the remit of screening exceeds the primary goal of clinical benefits for infants.
| S-EPMC2987364 | biostudies-literature