42 results on '"Jelili Ojodu"'
Search Results
2. Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018
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Sikha Singh, Jelili Ojodu, Alex R. Kemper, Wendy K. K. Lam, and Scott D. Grosse
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newborn screening ,public health ,new conditions ,Pediatrics ,RJ1-570 - Abstract
The Recommended Uniform Screening Panel (RUSP) is the list of conditions recommended by the US Secretary of Health and Human Services for inclusion in state newborn screening (NBS). During 2010–2022, seven conditions were added to the RUSP: severe combined immunodeficiency (SCID) (2010), critical congenital heart disease (CCHD) (2011), glycogen storage disease, type II (Pompe) (2015), mucopolysaccharidosis, type I (MPS I) (2016), X-linked adrenoleukodystrophy (X-ALD) (2016), spinal muscular atrophy (SMA) (2018), and mucopolysaccharidosis, type II (MPS II) (2022). The adoption of SCID and CCHD newborn screening by programs in all 50 states and three territories (Washington, D.C.; Guam; and Puerto Rico) took 8.6 and 6.8 years, respectively. As of December 2022, 37 programs screen for Pompe, 34 for MPS I, 32 for X-ALD, and 48 for SMA. The pace of implementation based on the average additional number of NBS programs per year was most rapid for SMA (11.3), followed by CCHD (7.8), SCID (6.2), MPS I (5.4), Pompe (4.9), and X-ALD (4.7).
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- 2023
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3. Infants with Congenital Diseases Identified through Newborn Screening—United States, 2018–2020
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Amy Gaviglio, Sarah McKasson, Sikha Singh, and Jelili Ojodu
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newborn screening ,rare disease ,birth prevalence ,Pediatrics ,RJ1-570 - Abstract
Newborn screening (NBS) is a state or territory-based public health system that screens newborns for congenital diseases that typically do not present with clinical symptoms at birth but can cause significant mortality and morbidity if not detected or treated quickly. NBS continues to be one of the most successful public health interventions in the US, providing early detection and intervention to all infants. The increase in overall birth prevalence of core Recommended Uniform Screening Panel (RUSP) diseases detected via dried blood spot (DBS) specimens from 2015–2017 (17.50–18.31 per 10,000) to 2018–2020 (20.07 per 10,000), as reported into the APHL NewSTEPs database, affirms the importance and impact of NBS programs. This report presents aggregate numbers and birth prevalence of diseases detected by DBS on the RUSP from 2018–2020, including data from fifty US states and two territories.
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- 2023
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4. Remembering the Legacy of Judi Tuerck
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Amy Morris, Cheryl Hermerath, Jelili Ojodu, and Neil Buist
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n/a ,Pediatrics ,RJ1-570 - Abstract
Judith “Judi” Tuerck, RN, MS, one of the true pioneers in the development of newborn screening (NBS), passed away on Saturday, 18 June 2022 (Figure 1) [...]
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- 2022
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5. COVID-19 Pandemic-Related Impacts on Newborn Screening Public Health Surveillance
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Sikha Singh, Michele Caggana, Carol Johnson, Rachel Lee, Guisou Zarbalian, Amy Gaviglio, Alisha Keehn, Mia Morrison, Scott J. Becker, and Jelili Ojodu
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newborn screening ,COVID-19 ,public health ,NewSTEPs ,Pediatrics ,RJ1-570 - Abstract
Newborn screening (NBS) is an essential public health service that performs screening to identify those newborns at increased risk for a panel of disorders, most of which are genetic. The goal of screening is to link those newborns at the highest risk to timely intervention and potentially life-saving treatment. The global COVID-19 pandemic led to disruptions within the United States public health system, revealing implications for the continuity of newborn screening laboratories and follow-up operations. The impacts of COVID-19 across different states at various time points meant that NBS programs impacted by the pandemic later could benefit from the immediate experiences of the earlier impacted programs. This article will review the collection, analysis, and dissemination of information during the COVID-19 pandemic facilitated by a national, centralized technical assistance and resource center for NBS programs.
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- 2022
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6. The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices
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Ruthanne Sheller, Jelili Ojodu, Emma Griffin, Sari Edelman, Careema Yusuf, Trey Pigg, Alissa Huston, Brian Fitzek, John G. Boyle, and Sikha Singh
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severe combined immunodeficiency ,newborn screening (NBS) ,United States ,communication pathways ,long-term follow-up ,education ,Immunologic diseases. Allergy ,RC581-607 - Abstract
Severe combined immunodeficiency (SCID) is T cell development disorders in the immune system and can be detected at birth. As of December 2018, all 53 newborn screening (NBS) programs within the United States and associated territories offer universal screening for SCID. The Association of Public Health Laboratories (APHL), along with the Immune Deficiency Foundation (IDF), surveyed public health NBS system laboratory and follow-up coordinators regarding their NBS program’s screening methodologies and targets, protocols for stakeholder notifications, and long-term follow-up practices. This report explores the variation that exists across NBS practices, revealing needs for efficiencies and educational resources across the NBS system to ensure the best outcomes for newborns.
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- 2020
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7. Newborn screening timeliness quality improvement initiative: Impact of national recommendations and data repository.
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Marci K Sontag, Joshua I Miller, Sarah McKasson, Ruthanne Sheller, Sari Edelman, Careema Yusuf, Sikha Singh, Deboshree Sarkar, Joseph Bocchini, Joan Scott, Jelili Ojodu, and Yvonne Kellar-Guenther
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Medicine ,Science - Abstract
BackgroundNewborn 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.MethodsThe 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.ResultsThe 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%).ConclusionNBS 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.
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- 2020
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8. Newborn Screening Practices for Beta-Thalassemia in the United States
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Michael A. Bender, Mary Hulihan, Mary Christine Dorley, Maria del Pilar Aguinaga, Jelili Ojodu, and Careema Yusuf
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newborn screening ,beta thalassemia ,hemoglobinopathies ,isoelectric focusing ,high performance liquid chromatography ,harmonization ,Pediatrics ,RJ1-570 - Abstract
Beta-thalassemia, a heritable condition of abnormal hemoglobin production, is not a core condition on the United States Recommended Uniform Screening Panel (RUSP) for state and territorial newborn screening (NBS) programs. However, screening for sickle cell disease (which is on the core RUSP) also detects reduced or absent levels of hemoglobin (Hb) A and certain other Hb variants associated with beta-thalassemia and, thus, allows for a timely referral to appropriate healthcare to minimize sequalae of the disease. The Association of Public Health Laboratories’ Hemoglobinopathy Workgroup administered a comprehensive survey of all U.S. NBS programs to assess beta-thalassemia testing methodologies, the cutoffs for defining beta-thalassemia major, and the reporting and follow-up practices. Forty-six (87%) of the programs responded. Thirty-nine of the 46 responding programs (85%) report some form of suspected beta-thalassemia; however, the screening methods, the percentage of Hb A used as a cutoff for an indication of beta-thalassemia major, and the screening follow-up vary widely. The standardization of technical and reporting procedures may improve access to specialty care prior to severe complications, increase genetic counseling, and provide data needed to better understand the public health impact and clinical outcomes of beta-thalassemia in the United States.
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- 2021
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9. Establishing a National Community of Practice for Newborn Screening Follow-Up
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Erin Darby, John Thompson, Carol Johnson, Sikha Singh, and Jelili Ojodu
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newborn screening ,follow-up ,short-term follow-up ,technical assistance ,community of practice ,Pediatrics ,RJ1-570 - Abstract
Newborn screening (NBS) follow-up programs in the United States are managed at the state level, leaving limited opportunities for collaboration across programs and coordinated resource sharing. The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs), a program of the Association of Public Health Laboratories (APHL), has established a national community of practice for NBS follow-up by creating a network of follow-up staff and stakeholders through education and engagement opportunities. The activities of NewSTEPs in support of NBS follow-up have strengthened information dissemination, collaboration, data collection and technical assistance-driven mentorship across the national system.
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- 2021
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10. Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021
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Kshea Hale, Jelili Ojodu, and Sikha Singh
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newborn screening ,spinal muscular atrophy ,new disorders implementation ,Pediatrics ,RJ1-570 - Abstract
Newborn screening (NBS) programs identify newborns at increased risk for genetic disorders, linking these newborns to timely intervention and potentially life-saving treatment. In the United States, the Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the disorders for state NBS programs to screen. ACHDNC updated the Recommended Uniform Screening Panel to include Spinal Muscular Atrophy (SMA) in July 2018. As of June 2021, 34 state NBS programs had fully implemented SMA newborn screening, and at least 8 programs were pursuing implementation. This article will review current SMA screening processes, considerations, challenges, and status.
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- 2021
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11. Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States
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Sari Edelman, Hiral Desai, Trey Pigg, Careema Yusuf, and Jelili Ojodu
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newborn screening ,congenital adrenal hyperplasia ,NewSTEPs ,Pediatrics ,RJ1-570 - Abstract
Newborn screening (NBS) is a state-based public health program that aims to identify newborns at risk of certain disorders in the first days after birth to prevent permanent disability or death. Disorders on the Health and Human Services Federal Advisory Committee’s Recommended Uniform Screening Panel (RUSP) have been adopted by most state NBS programs; however, each state mandates specific disorders to be screened and implements their own system processes. Congenital adrenal hyperplasia (CAH) was added to the RUSP in 2005, and currently all 53 NBS programs universally screen for it. This paper provides a landscape of CAH screening in the United States, utilizing data voluntarily entered by state NBS programs in the Newborn Screening Technical assistance and Evaluation Program data repository. Data reported encompasses NBS state profile data (follow-up, disorder testing and the reporting of processes and methodologies for screening), quality indicator data (timeliness of CAH NBS) and confirmed cases. This comprehensive landscape analysis compares the CAH NBS systems across the US. This is vital in ultimately ensuring that newborns with CAH at risk of salt crisis receive appropriate intervention in a timely manner.
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- 2020
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12. Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation
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Kshea Hale, Yvonne Kellar-Guenther, Sarah McKasson, Sikha Singh, and Jelili Ojodu
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newborn screening ,Pompe disease ,new disorders implementation ,Pediatrics ,RJ1-570 - Abstract
Public health programs in the United States screen more than four million babies each year for at least 30 genetic disorders. The Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the disorders for state newborn screening (NBS) programs to screen. ACHDNC updated the Recommended Uniform Screening Panel (RUSP) to include Pompe disease in March 2015. To support the expansion of screening for Pompe disease, the Association of Public Health Laboratories (APHL) proposed the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) New Disorders Implementation Project, funded by the HHS’ Health Resources and Services Administration (HRSA) Maternal and Child Health Bureau (MCHB). Through this project, APHL provided financial support to 15 state NBS programs to enable full implementation of screening for Pompe disease. As of April 27, 2020, nine of the 15 programs had fully implemented Pompe disease newborn screening and six programs are currently pursuing implementation. This article will discuss how states advanced to statewide implementation of screening for Pompe disease, the challenges associated with implementing screening for this condition, the lessons learned during the project, and recommendations for implementing screening for Pompe disease.
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- 2020
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13. Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences
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Yvonne Kellar-Guenther, Sarah McKasson, Kshea Hale, Sikha Singh, Marci K. Sontag, and Jelili Ojodu
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newborn screening ,new conditions ,Pompe ,Mucopolysaccharidosis type I (MPS I) ,X-linked adrenoleukodystrophy (ALD) ,Spinal Muscular Atrophy ,Pediatrics ,RJ1-570 - Abstract
Data were collected from 39 newborn screening (NBS) programs to provide insight into the time and factors required for implementing statewide screening for Pompe, Mucopolysaccharidosis type I (MPS I), adrenoleukodystrophy (ALD), and Spinal Muscular Atrophy (SMA). Newborn screening program readiness to screen statewide for a condition was assessed using four phases: (1) approval to screen; (2) laboratory, follow-up, and information technology capabilities; (3) education; and (4) implementation of statewide newborn screening. Seventeen states (43.6%) reached statewide implementation for at least one new disorder. Those states reported that it took 28 months to implement statewide screening for Pompe and MPS I, 30.5 months for ALD, and 20 months for SMA. Using survival curve analysis to account for states still in progress, the estimated median time to statewide screening increased to 75 months for Pompe and 66 months for MPS I. When looking at how long each readiness component took to complete, laboratory readiness was one of the lengthier processes, taking about 39 months. Collaboration with other NBS programs and hiring were the most frequently mentioned facilitators to implementing newborn screening. Staffing or inability to hire both laboratory and follow-up staff was the most frequently mentioned barrier.
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- 2020
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14. Development of National Newborn Screening Quality Indicators in the United States
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Careema Yusuf, Marci K. Sontag, Joshua Miller, Yvonne Kellar-Guenther, Sarah McKasson, Scott Shone, Sikha Singh, and Jelili Ojodu
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newborn screening ,consensus building ,performance measures ,quality improvement ,quality indicators ,Pediatrics ,RJ1-570 - Abstract
Newborn screening is a public health program facilitated by state public health departments with the goal of improving the health of affected newborns throughout the country. Experts in the newborn screening community established a panel of eight quality indicators (QIs) to track quality practices within and across the United States newborn screening system. The indicators were developed following iterative refinement, consensus building, and evaluation. The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) implemented a national data repository in 2013 that captures the quality improvement metrics from each state. The QIs span the newborn screening process from collection of a dried blood spot through medical intervention for a screened condition. These data are collected and analyzed to support data-driven outcome assessments and tracking performance to improve the quality of the newborn screening system.
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- 2019
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15. Analyzing Patterns in NewSTEPs Site Review Recommendations: Practical Applications for Newborn Screening Programs
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Yvonne Kellar-Guenther, Marci K. Sontag, Eric Linder, Sikha Singh, Ruthanne Sheller, and Jelili Ojodu
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newborn screening ,continuous quality improvement ,evaluation ,technical assistance ,public health ,site reviews ,Pediatrics ,RJ1-570 - Abstract
The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) conducts non-regulatory site reviews of state newborn screening programs in the US with the goal of providing comprehensive reports and recommendations to support quality improvements within the system. A detailed coding and qualitative analysis of data extracted from reports of seven programs visited between 2012 and 2017, of thirteen pre-site visit surveys completed by state newborn screening programs, and of information from interviews conducted with three site review experts revealed four common themes that exist across states within the national newborn screening system. These themes include opportunities to implement improvements in: (1) communications inside and outside of the state newborn screening program, (2) education, (3) information technology, and (4) operations. The cross-cutting recommendations provided by NewSTEPs within the comprehensive site review reports may prove valuable for all state programs to consider and to incorporate as quality improvement measures in the absence of a full site review. The analysis of the site review process and recommendations identified important opportunities for improvement, many of which were previously unknown to be common across programs, and also provided affirmation of known challenges.
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- 2019
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16. Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance
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Marci K. Sontag, Deboshree Sarkar, Anne M. Comeau, Kathryn Hassell, Lorenzo D. Botto, Richard Parad, Susan R. Rose, Kupper A. Wintergerst, Kim Smith-Whitley, Sikha Singh, Careema Yusuf, Jelili Ojodu, Sara Copeland, and Cynthia F. Hinton
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newborn screening ,case definitions ,short-term follow up ,public health surveillance ,Pediatrics ,RJ1-570 - Abstract
Newborn screening (NBS) identifies infants with rare conditions to prevent death or the onset of irreversible morbidities. Conditions on the Health and Human Services Secretary’s Recommended Uniform Screening Panel have been adopted by most state NBS programs, providing a consistent approach for identification of affected newborns across the United States. Screen-positive newborns are identified and referred for confirmatory diagnosis and follow-up. The designation of a clinically significant phenotype precursor to a clinical diagnosis may vary between clinical specialists, resulting in diagnostic variation. Determination of disease burden and birth prevalence of the screened conditions by public health tracking is made challenging by these variations. This report describes the development of a core group of new case definitions, along with implications, plans for their use, and links to the definitions that were developed by panels of clinical experts. These definitions have been developed through an iterative process and are piloted in NBS programs. Consensus public health surveillance case definitions for newborn screened disorders will allow for consistent categorization and tracking of short- and long-term follow-up of identified newborns at the local, regional, and national levels.
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- 2018
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17. NewSTEPs: The Establishment of a National Newborn Screening Technical Assistance Resource Center
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Jelili Ojodu, Sikha Singh, Yvonne Kellar-Guenther, Careema Yusuf, Elizabeth Jones, Thalia Wood, Mei Baker, and Marci K. Sontag
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newborn screening ,data repository ,continuous quality improvement ,evaluation ,technical assistance ,Pediatrics ,RJ1-570 - Abstract
As newborn screening (NBS) programs in the US implement expanded screening panels, utilize emerging technologies and identify areas for improvement, the need to establish and maintain a community engagement based national technical assistance center becomes apparent. The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs)—a program of the Association of Public Health Laboratories (APHL) in partnership with the Colorado School of Public Health (ColoradoSPH), offers expertise in newborn screening program development, member connection, data analysis, and program evaluation. NewSTEPs provides a secure online data repository designed to collect comprehensive data on newborn screening programs in three strata: state profiles (description of each state program including program hours, fees, and disorders screened), quality indicators (metrics of program performance encompassing screening accuracy and timeliness) and NBS public health surveillance case definitions. NewSTEPs was created in 2012 under a cooperative agreement with the United States Department of Health and Human Services (HHS), Health Resources and Services Administration (HRSA), Maternal and Child Health Bureau (MCHB). Successful activities of NewSTEPs have resulted in the establishment of a technical assistance resource center and the organization of a network of newborn screening experts. In addition, NewSTEPs coordinates efforts with other federally funded programs in order to maximize resources and to ensure a unified approach to data collection and information sharing.
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- 2017
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18. Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States
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Margie A. Ream, Wendy K.K. Lam, Scott D. Grosse, Jelili Ojodu, Elizabeth Jones, Lisa A. Prosser, Angela M. Rosé, Anne Marie Comeau, Susan Tanksley, Cynthia M. Powell, and Alex R. Kemper
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Genetics (clinical) - Abstract
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is an X-linked condition caused by pathogenic variants in the iduronate-2-sulfatase gene. The resulting reduced activity of the enzyme iduronate-2-sulfatase leads to accumulation of glycosaminoglycans that can progressively affect multiple organ systems and impair neurologic development. In 2006, the US Food and Drug Administration approved idursulfase for intravenous enzyme replacement therapy for MPS II. After the data suggesting that early treatment is beneficial became available, 2 states, Illinois and Missouri, implemented MPS II newborn screening. Following a recommendation of the Advisory Committee on Heritable Disorders in Newborns and Children in February 2022, in August 2022, the US Secretary of Health and Human Services added MPS II to the Recommended Uniform Screening Panel, a list of conditions recommended for newborn screening. MPS II was added to the Recommended Uniform Screening Panel after a systematic evidence review reported the accuracy of screening, the benefit of presymptomatic treatment compared with usual case detection, and the feasibility of implementing MPS II newborn screening. This manuscript summarizes the findings of the evidence review that informed the Advisory Committee's decision.
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- 2023
19. Infants with Congenital Disorders Identified Through Newborn Screening — United States, 2015–2017
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Cynthia F. Hinton, Scott D. Grosse, Sarah McKasson, Jelili Ojodu, Carla D. Cuthbert, Sari Edelman, Stuart K. Shapira, Marcus Gaffney, Marci K. Sontag, Careema Yusuf, Joshua I. Miller, Sikha Singh, and Yvonne Kellar-Guenther
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Pediatrics ,medicine.medical_specialty ,Health (social science) ,Epidemiology ,Hearing loss ,Health, Toxicology and Mutagenesis ,Infant health ,Disease ,Cystic fibrosis ,Congenital Abnormalities ,03 medical and health sciences ,Neonatal Screening ,0302 clinical medicine ,Health Information Management ,030225 pediatrics ,Prevalence ,medicine ,Humans ,National level ,Full Report ,030212 general & internal medicine ,Newborn screening ,business.industry ,Public health ,Infant, Newborn ,General Medicine ,medicine.disease ,United States ,Dried blood spot ,medicine.symptom ,business - Abstract
Newborn screening (NBS) identifies infants at risk for congenital disorders for which early intervention has been shown to improve outcomes (1). State public health programs are encouraged to screen for disorders on the national Recommended Uniform Screening Panel (RUSP), which increased from 29 disorders in 2005 to 35 in 2018.* The RUSP includes hearing loss (HL) and critical congenital heart defects, which can be detected through point-of-care screening, and 33 disorders detected through laboratory screening of dried blood spot (DBS) specimens. Numbers of cases for 33 disorders on the RUSP (32 DBS disorders and HL) reported by 50 U.S. state programs were tabulated. The three subtypes of sickle cell disease (SCD) listed as separate disorders on the RUSP (S,S disease; S,beta-thalassemia; and S,C disease) were combined for the current analysis, and the frequencies of the resulting disorders were calculated relative to annual births. During 2015-2017, the overall prevalence was 34.0 per 10,000 live births. Applying that frequency to 3,791,712 live births in 2018,† approximately 12,900 infants are expected to be identified each year with one of the disorders included in the study. The most prevalent disorder is HL (16.5 per 10,000), and the most prevalent DBS disorders are primary congenital hypothyroidism (CH) (6.0 per 10,000), SCD (4.9 per 10,000), and cystic fibrosis (CF) (1.8 per 10,000). Notable changes in prevalence for each of these disorders have occurred since the previous estimates based on 2006 births (2). The number of infants identified at a national level highlights the effect that NBS programs are having on infant health through early detection, intervention, and potential improved health, regardless of geographic, racial/ethnic, or socioeconomic differences.
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- 2020
20. Newborn Screening Practices and Alpha-Thalassemia Detection — United States, 2016
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Maria Del Pilar Aguinaga, Kathryn L. Hassell, M A Bender, Tim Davis, M Christine Dorley, Mary Hulihan, Ming S Chan, Jelili Ojodu, Amanda Ingram, Joseph C Ubaike, and Careema Yusuf
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Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Pediatrics ,medicine.medical_specialty ,Health (social science) ,Epidemiology ,Health, Toxicology and Mutagenesis ,Thalassemia ,Alpha-thalassemia ,Disease ,01 natural sciences ,03 medical and health sciences ,0302 clinical medicine ,Neonatal Screening ,Health Information Management ,alpha-Thalassemia ,hemic and lymphatic diseases ,Health care ,medicine ,Humans ,030212 general & internal medicine ,Full Report ,0101 mathematics ,Newborn screening ,business.industry ,Public health ,010102 general mathematics ,Infant, Newborn ,General Medicine ,Guideline ,medicine.disease ,United States ,Hemoglobinopathy ,Health Care Surveys ,Female ,business - Abstract
Alpha-thalassemia comprises a group of inherited disorders in which alpha-hemoglobin chain production is reduced. Depending on the genotype, alpha-thalassemia results in moderate to profound anemia, hemolysis, growth delays, splenomegaly, and increased risk for thromboembolic events; certain patients might require chronic transfusions. Although alpha-thalassemia is not a core condition of the United States Recommended Uniform Screening Panel* for state newborn screening programs, methodologies used by some newborn screening programs to detect sickle cell disease, which is a core panel condition, also detect a quantitative marker of alpha-thalassemia, hemoglobin (Hb) Bart's, an abnormal type of hemoglobin. The percentage of Hb Bart's detected correlates with alpha-thalassemia severity. The Association of Public Health Laboratories' Hemoglobinopathy Workgroup conducted a survey of state newborn screening programs' alpha-thalassemia screening methodologies and reporting and follow-up practices. Survey findings indicated that 41 of 44 responding programs (93%) report some form of alpha-thalassemia results and 57% used a two-method screening protocol. However, the percentage of Hb Bart's used for thalassemia classification, the types of alpha-thalassemia reported, and the recipients of this information varied widely. These survey findings highlight the opportunity for newborn screening programs to revisit their policies as they reevaluate their practices in light of the recently released guideline from the Clinical and Laboratory Standards Institute (CLSI) on Newborn Screening for Hemoglobinopathies (1). Although deferring to local programs for policies, the report used a cutoff of 25% Hb Bart's in its decision tree, a value many programs do not use. Standardization of screening and reporting might lead to more timely diagnoses and health care services and improved outcomes for persons with a clinically significant alpha-thalassemia.
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- 2020
21. Establishing a National Community of Practice for Newborn Screening Follow-Up
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Carol Johnson, Sikha Singh, Erin Darby, John D. Thompson, and Jelili Ojodu
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0301 basic medicine ,medicine.medical_specialty ,community of practice ,Information Dissemination ,030105 genetics & heredity ,Pediatrics ,technical assistance ,RJ1-570 ,Article ,03 medical and health sciences ,0302 clinical medicine ,Mentorship ,Community of practice ,Immunology and Microbiology (miscellaneous) ,medicine ,follow-up ,Medical education ,Newborn screening ,Data collection ,newborn screening ,Public health ,short-term follow-up ,Obstetrics and Gynecology ,Shared resource ,National system ,Pediatrics, Perinatology and Child Health ,Business ,030217 neurology & neurosurgery - Abstract
Newborn screening (NBS) follow-up programs in the United States are managed at the state level, leaving limited opportunities for collaboration across programs and coordinated resource sharing. The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs), a program of the Association of Public Health Laboratories (APHL), has established a national community of practice for NBS follow-up by creating a network of follow-up staff and stakeholders through education and engagement opportunities. The activities of NewSTEPs in support of NBS follow-up have strengthened information dissemination, collaboration, data collection and technical assistance-driven mentorship across the national system.
- Published
- 2021
22. Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021
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Sikha Singh, Jelili Ojodu, and Kshea Hale
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Newborn screening ,Pediatrics ,medicine.medical_specialty ,business.industry ,newborn screening ,Advisory committee ,Obstetrics and Gynecology ,Spinal muscular atrophy ,medicine.disease ,SMA ,Article ,RJ1-570 ,Increased risk ,Immunology and Microbiology (miscellaneous) ,Intervention (counseling) ,Pediatrics, Perinatology and Child Health ,medicine ,new disorders implementation ,business ,Human services ,spinal muscular atrophy - Abstract
Newborn screening (NBS) programs identify newborns at increased risk for genetic disorders, linking these newborns to timely intervention and potentially life-saving treatment. In the United States, the Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the disorders for state NBS programs to screen. ACHDNC updated the Recommended Uniform Screening Panel to include Spinal Muscular Atrophy (SMA) in July 2018. As of June 2021, 34 state NBS programs had fully implemented SMA newborn screening, and at least 8 programs were pursuing implementation. This article will review current SMA screening processes, considerations, challenges, and status.
- Published
- 2021
23. The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices
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Trey Pigg, Ruthanne Sheller, Sari Edelman, Careema Yusuf, John G Boyle, Brian Fitzek, Emma Griffin, Alissa Huston, Sikha Singh, and Jelili Ojodu
- Subjects
0301 basic medicine ,lcsh:Immunologic diseases. Allergy ,medicine.medical_specialty ,Long term follow up ,newborn screening (NBS) ,communication pathways ,Immunology ,Aftercare ,long-term follow-up ,03 medical and health sciences ,Neonatal Screening ,0302 clinical medicine ,Stakeholder Participation ,medicine ,Humans ,Immunology and Allergy ,Healthcare Disparities ,Practice Patterns, Physicians' ,Quality Indicators, Health Care ,Original Research ,Severe combined immunodeficiency ,Newborn screening ,education ,business.industry ,Communication ,Public health ,Infant, Newborn ,food and beverages ,severe combined immunodeficiency ,medicine.disease ,Long-Term Care ,Quality Improvement ,United States ,030104 developmental biology ,Health Care Surveys ,Family medicine ,Educational resources ,embryonic structures ,business ,lcsh:RC581-607 ,030215 immunology - Abstract
Severe combined immunodeficiency (SCID) is T cell development disorders in the immune system and can be detected at birth. As of December 2018, all 53 newborn screening (NBS) programs within the United States and associated territories offer universal screening for SCID. The Association of Public Health Laboratories (APHL), along with the Immune Deficiency Foundation (IDF), surveyed public health NBS system laboratory and follow-up coordinators regarding their NBS program’s screening methodologies and targets, protocols for stakeholder notifications, and long-term follow-up practices. This report explores the variation that exists across NBS practices, revealing needs for efficiencies and educational resources across the NBS system to ensure the best outcomes for newborns.
- Published
- 2020
24. Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States
- Author
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Hiral Desai, Trey Pigg, Careema Yusuf, Jelili Ojodu, and Sari Edelman
- Subjects
medicine.medical_specialty ,Newborn screening ,business.industry ,newborn screening ,Public health ,Advisory committee ,lcsh:RJ1-570 ,food and beverages ,Obstetrics and Gynecology ,lcsh:Pediatrics ,Permanent disability ,medicine.disease ,Article ,Immunology and Microbiology (miscellaneous) ,Family medicine ,embryonic structures ,Pediatrics, Perinatology and Child Health ,medicine ,Landscape analysis ,congenital adrenal hyperplasia ,Congenital adrenal hyperplasia ,NewSTEPs ,business ,Human services - Abstract
Newborn screening (NBS) is a state-based public health program that aims to identify newborns at risk of certain disorders in the first days after birth to prevent permanent disability or death. Disorders on the Health and Human Services Federal Advisory Committee&rsquo, s Recommended Uniform Screening Panel (RUSP) have been adopted by most state NBS programs, however, each state mandates specific disorders to be screened and implements their own system processes. Congenital adrenal hyperplasia (CAH) was added to the RUSP in 2005, and currently all 53 NBS programs universally screen for it. This paper provides a landscape of CAH screening in the United States, utilizing data voluntarily entered by state NBS programs in the Newborn Screening Technical assistance and Evaluation Program data repository. Data reported encompasses NBS state profile data (follow-up, disorder testing and the reporting of processes and methodologies for screening), quality indicator data (timeliness of CAH NBS) and confirmed cases. This comprehensive landscape analysis compares the CAH NBS systems across the US. This is vital in ultimately ensuring that newborns with CAH at risk of salt crisis receive appropriate intervention in a timely manner.
- Published
- 2020
25. Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation
- Author
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Susan Tanksley, Scott D. Grosse, Jelili Ojodu, Anne Marie Comeau, Elizabeth Jones, Alex R. Kemper, Wendy Lam, Lisa A. Prosser, Jeffrey P. Brosco, Jennifer M. Kwon, and Nancy S. Green
- Subjects
Male ,0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Evidence-based practice ,Advisory Committees ,New York ,Alternative medicine ,MEDLINE ,Disease ,ATP Binding Cassette Transporter, Subfamily D, Member 1 ,Article ,03 medical and health sciences ,Neonatal Screening ,0302 clinical medicine ,medicine ,Humans ,Adrenoleukodystrophy ,Intensive care medicine ,Genetics (clinical) ,Human services ,Newborn screening ,business.industry ,Infant, Newborn ,medicine.disease ,United States ,Phenotype ,030104 developmental biology ,Transgender hormone therapy ,Mutation ,Female ,United States Dept. of Health and Human Services ,business ,030217 neurology & neurosurgery - Abstract
The secretary of the US Department of Health and Human Services in February 2016 recommended that X-linked adrenoleukodystrophy (X-ALD) be added to the recommended uniform screening panel for state newborn screening programs. This decision was informed by data presented on the accuracy of screening from New York, the only state that currently offers X-ALD newborn screening, and published and unpublished data showing health benefits of earlier treatment (hematopoietic stem cell transplantation and adrenal hormone replacement therapy) for the childhood cerebral form of X-ALD. X-ALD newborn screening also identifies individuals with later-onset disease, but poor genotype-phenotype correlation makes predicting health outcomes difficult and might increase the risk of unnecessary treatment. Few data are available regarding the harms of screening and presymptomatic identification. Significant challenges exist for implementing comprehensive X-ALD newborn screening, including incorporation of the test, coordinating follow-up diagnostic and treatment care, and coordination of extended family testing after case identification.Genet Med 19 1, 121-126.
- Published
- 2017
26. Analyzing Patterns in NewSTEPs Site Review Recommendations: Practical Applications for Newborn Screening Programs
- Author
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Yvonne Kellar-Guenther, Jelili Ojodu, Sikha Singh, Ruthanne Sheller, Marci K. Sontag, and Eric Linder
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Quality management ,Computer science ,continuous quality improvement ,030105 genetics & heredity ,technical assistance ,Article ,03 medical and health sciences ,0302 clinical medicine ,Qualitative analysis ,Immunology and Microbiology (miscellaneous) ,030225 pediatrics ,medicine ,Review process ,Medical education ,Newborn screening ,evaluation ,site reviews ,business.industry ,newborn screening ,Public health ,public health ,lcsh:RJ1-570 ,Obstetrics and Gynecology ,Information technology ,lcsh:Pediatrics ,Pediatrics, Perinatology and Child Health ,business ,Coding (social sciences) - Abstract
The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) conducts non-regulatory site reviews of state newborn screening programs in the US with the goal of providing comprehensive reports and recommendations to support quality improvements within the system. A detailed coding and qualitative analysis of data extracted from reports of seven programs visited between 2012 and 2017, of thirteen pre-site visit surveys completed by state newborn screening programs, and of information from interviews conducted with three site review experts revealed four common themes that exist across states within the national newborn screening system. These themes include opportunities to implement improvements in: (1) communications inside and outside of the state newborn screening program, (2) education, (3) information technology, and (4) operations. The cross-cutting recommendations provided by NewSTEPs within the comprehensive site review reports may prove valuable for all state programs to consider and to incorporate as quality improvement measures in the absence of a full site review. The analysis of the site review process and recommendations identified important opportunities for improvement, many of which were previously unknown to be common across programs, and also provided affirmation of known challenges.
- Published
- 2018
27. Single newborn screen or routine second screening for primary congenital hypothyroidism
- Author
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Cynthia F. Hinton, Stuart K. Shapira, Patrice K. Held, W. Harry Hannon, Jelili Ojodu, and Elizabeth Jones
- Subjects
Pediatrics ,medicine.medical_specialty ,Multivariate analysis ,Neonatal intensive care unit ,Endocrinology, Diabetes and Metabolism ,Birth weight ,Biochemistry ,Article ,Neonatal Screening ,Endocrinology ,Congenital Hypothyroidism ,Genetics ,Humans ,Medicine ,Primary congenital hypothyroidism ,Molecular Biology ,Retrospective Studies ,Newborn screening ,business.industry ,Infant, Newborn ,Retrospective cohort study ,Odds ratio ,medicine.disease ,United States ,Congenital hypothyroidism ,business ,Algorithms - Abstract
Routine second screening of most newborns at 8–14 days of life for a panel of newborn conditions occurs in 12 U.S. states, while newborns in the other states typically undergo only a single routine newborn screen. The study objective was to evaluate screening consequences for primary congenital hypothyroidism (CH) in one- and two-screen states according to laboratory practices and medical or biochemical characteristics of screen-positive cases. Individual-level medical and biochemical data were retrospectively collected and analyzed for 2,251 primary CH cases in one-screen (CA, WI) and two-screen (AL, DE, MD, OR, TX) states. Aggregate data were collected and analyzed for medical and biochemical characteristics of all screened newborns in the states. Among the states evaluated in this study, the detection rate of primary CH was higher in the one-screen states. In the two-screen states, 11.5% of cases were detected on the second screen. In multivariate analyses, only race/ethnicity was a significant predictor of cases identified on the first versus second screen, which likely reflects a physiologic difference in primary CH presentation. Newborn screening programs must heed the potential for newborns with CH not being detected by a single screen, particularly newborns of certain races/ethnicities. If the two-screen states converted to a single screen using their current algorithms, newborns currently identified on the routine second screen would presumably not be detected, resulting in probable delayed diagnosis and treatment. However, based on the one-screen state experiences, with appropriate modifications in screening method and algorithm, the two-screen states might convert to single screen operation for CH without loss in performance.
- Published
- 2015
28. Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation
- Author
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Jelili Ojodu, Kshea Hale, Sarah McKasson, Yvonne Kellar-Guenther, and Sikha Singh
- Subjects
medicine.medical_specialty ,Newborn screening ,newborn screening ,business.industry ,Maternal and child health ,Public health ,Advisory committee ,lcsh:RJ1-570 ,Pompe disease ,Obstetrics and Gynecology ,lcsh:Pediatrics ,Disease ,Article ,Resource (project management) ,Immunology and Microbiology (miscellaneous) ,Family medicine ,Pediatrics, Perinatology and Child Health ,new disorders implementation ,medicine ,business ,Human services - Abstract
Public health programs in the United States screen more than four million babies each year for at least 30 genetic disorders. The Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the disorders for state newborn screening (NBS) programs to screen. ACHDNC updated the Recommended Uniform Screening Panel (RUSP) to include Pompe disease in March 2015. To support the expansion of screening for Pompe disease, the Association of Public Health Laboratories (APHL) proposed the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) New Disorders Implementation Project, funded by the HHS&rsquo, Health Resources and Services Administration (HRSA) Maternal and Child Health Bureau (MCHB). Through this project, APHL provided financial support to 15 state NBS programs to enable full implementation of screening for Pompe disease. As of April 27, 2020, nine of the 15 programs had fully implemented Pompe disease newborn screening and six programs are currently pursuing implementation. This article will discuss how states advanced to statewide implementation of screening for Pompe disease, the challenges associated with implementing screening for this condition, the lessons learned during the project, and recommendations for implementing screening for Pompe disease.
- Published
- 2020
29. Newborn screening timeliness quality improvement initiative: Impact of national recommendations and data repository
- Author
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Yvonne Kellar-Guenther, Marci K. Sontag, Sikha Singh, Sari Edelman, Joseph A. Bocchini, Joshua I. Miller, Careema Yusuf, Deboshree Sarkar, Jelili Ojodu, Ruthanne Sheller, Sarah McKasson, and Joan Scott
- Subjects
Health Screening ,medicine.medical_specialty ,Research Facilities ,Quality management ,Physiology ,Health Care Providers ,Maternal Health ,Science ,Advisory committee ,Advisory Committees ,Research and Analysis Methods ,Timely diagnosis ,Labor and Delivery ,Neonatal Screening ,Interquartile range ,Medicine and Health Sciences ,Humans ,Medicine ,Public and Occupational Health ,Child ,Newborn screening ,Health Care Policy ,Multidisciplinary ,business.industry ,Infant, Newborn ,Time to result ,Recem nascido ,Biology and Life Sciences ,Neonates ,Obstetrics and Gynecology ,Quality Improvement ,Body Fluids ,Health Care ,Blood ,Specimen collection ,Emergency medicine ,Birth ,Women's Health ,Anatomy ,Laboratories ,Research Laboratories ,business ,Screening Guidelines ,Research Article ,Government Laboratories ,Developmental Biology - Abstract
BackgroundNewborn 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.MethodsThe 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.ResultsThe 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%).ConclusionNBS 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.
- Published
- 2020
30. An update on the use of health information technology in newborn screening
- Author
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Careema Yusuf, Jelili Ojodu, Swapna Abhyankar, Marci K. Sontag, Rebecca M. Goodwin, and Clement J. McDonald
- Subjects
Knowledge management ,Quality Assurance, Health Care ,Health information technology ,Article ,Units of measurement ,Computer Communication Networks ,Systematized Nomenclature of Medicine ,Neonatal Screening ,Obstetrics and Gynaecology ,Medicine ,Humans ,Pediatrics, Perinatology, and Child Health ,Newborn screening ,LOINC ,business.industry ,Infant, Newborn ,Obstetrics and Gynecology ,food and beverages ,Test (assessment) ,Identifier ,Pediatrics, Perinatology and Child Health ,embryonic structures ,Logical Observation Identifiers Names and Codes ,business ,Clinical Laboratory Information Systems ,Quality assurance ,Medical Informatics - Abstract
Newborn screening (NBS) has high‐stakes health implications and requires rapid and effective communication between many people and organizations. Multiple NBS stakeholders worked together to create national guidance for reporting NBS results with HL7 (Health Level 7) messages that contain LOINC (Logical Observation Identifiers Names and Codes) and SNOMED-CT (Systematized Nomenclature of Medicine–Clinical Terms) codes, report quantitative test results, and use standardized computer‐readable UCUM units of measure. This guidance (a LOINC panel and an example annotated HL7 message) enables standard HL7 v2.5.1 laboratory messages to carry the information required for reporting NBS results. Other efforts include HL7 implementation guides for reporting point-of-care (POC) NBS results as well as standardizing follow-up of patients diagnosed with conditions identified through NBS. If the guidance is used nationally, regional and national registries can aggregate results from state programs to facilitate research and quality assurance and help ensure continuity of operations following a disaster situation.
- Published
- 2015
- Full Text
- View/download PDF
31. Evaluating Harms in the Assessment of Net Benefit: A Framework for Newborn Screening Condition Review
- Author
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Jeffrey R. Botkin, Scott D. Grosse, Anne Marie Comeau, Aaron J. Goldenberg, Jelili Ojodu, Alex R. Kemper, Lisa A. Prosser, Nancy S. Green, and Susan Tanksley
- Subjects
Program evaluation ,medicine.medical_specialty ,Pediatrics ,National Health Programs ,Epidemiology ,Advisory Committees ,Decision Making ,Article ,03 medical and health sciences ,0302 clinical medicine ,Neonatal Screening ,030225 pediatrics ,medicine ,Humans ,Mass Screening ,030212 general & internal medicine ,Workgroup ,Mass screening ,Newborn screening ,Evidence-Based Medicine ,business.industry ,Public health ,Public Health, Environmental and Occupational Health ,Infant, Newborn ,Obstetrics and Gynecology ,Infant ,Evidence-based medicine ,Bioethics ,Family medicine ,Pediatrics, Perinatology and Child Health ,Female ,business ,Psychosocial ,Program Evaluation - Abstract
Background The Department of Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (“Advisory Committee”) makes recommendations to the HHS Secretary regarding addition of new conditions to the national Recommended Uniform Screening Panel for newborns. The Advisory Committee’s decision-making process includes assessing the net benefit of screening for nominated conditions, informed by systematic evidence reviews generated by an independent Condition Review Workgroup. The evidence base regarding harms associated with screening for specific conditions is often more limited than that for benefits. Procedures The process for defining potential harms from newborn screening reviewed the frameworks from other public health evidence-based review processes, adapted to newborn screening by experts in systematic review, newborn screening programs and bioethics, with input from and approval by the Advisory Committee. Main findings To support the Advisory Committee’s review of nominated conditions, the Workgroup has developed a standardized approach to evaluation of harms and relevant gaps in the evidence. Types of harms include the physical burden to infants; psychosocial and logistic burdens to families from screening or diagnostic evaluation; increased risk of medical treatment for infants diagnosed earlier than children with clinical presentation; delayed diagnosis from false negative results; psychosocial harm from false positive results; uncertainty of clinical diagnosis, age of onset or clinical spectrum; and disparities in access to diagnosis or therapy. Conclusions Estimating the numbers of children at risk, the magnitude, timing and likelihood of harms will be integrated into Workgroup reports to the Advisory Committee.
- Published
- 2017
32. Decision-making process for conditions nominated to the Recommended Uniform Screening Panel: statement of the US Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children
- Author
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Alex R. Kemper, Anne Marie Comeau, Joseph A. Bocchini, Aaron J. Goldenberg, Nancy S. Green, Susan Tanksley, Ned Calonge, Lisa A. Prosser, Jelili Ojodu, and Wendy Lam
- Subjects
medicine.medical_specialty ,Advisory Committees ,Decision Making ,Population ,Neonatal Screening ,Consistency (negotiation) ,Humans ,Medicine ,Decision-making ,Child ,education ,Genetics (clinical) ,Human services ,Medical education ,Newborn screening ,education.field_of_study ,Evidence-Based Medicine ,business.industry ,Infant, Newborn ,Infant ,Evidence-based medicine ,Transparency (behavior) ,United States ,Decision matrix ,Child, Preschool ,Emergency medicine ,United States Dept. of Health and Human Services ,business - Abstract
The US Secretary of Health and Human Services provides guidance to state newborn screening programs about which conditions should be included in screening (i.e., the “Recommended Uniform Screening Panel”). This guidance is informed by evidence-based recommendations from the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. This report describes the Advisory Committee’s revised decision-making process for considering conditions nominated to the panel. An expert panel meeting was held in April 2012 to revise the decision matrix, which helps to guide the recommendation process. In January 2013, the Advisory Committee voted to adopt the revised decision matrix. The revised decision matrix clarifies the approach to rating magnitude and certainty of the net benefit of screening to the population of screened newborns for nominated conditions, and now includes the consideration of the capability of state newborn screening programs for population-wide implementation by evaluating the feasibility and readiness of states to adopt screening for nominated conditions. The revised decision matrix will bring increased quality, transparency, and consistency to the process of modifying the recommended uniform screening panel and will now allow formal evaluation of the challenges that state newborn screening programs face in adopting screening for new conditions. Genet Med 16 2, 183–187.
- Published
- 2014
33. Development of National Newborn Screening Quality Indicators in the United States
- Author
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Sikha Singh, Yvonne Kellar-Guenther, Scott M. Shone, Careema Yusuf, Joshua I. Miller, Marci K. Sontag, Jelili Ojodu, and Sarah McKasson
- Subjects
medicine.medical_specialty ,Quality management ,media_common.quotation_subject ,Article ,quality improvement ,03 medical and health sciences ,0302 clinical medicine ,Immunology and Microbiology (miscellaneous) ,030225 pediatrics ,Medicine ,Quality (business) ,030212 general & internal medicine ,media_common ,Newborn screening ,newborn screening ,business.industry ,Public health ,lcsh:RJ1-570 ,Obstetrics and Gynecology ,lcsh:Pediatrics ,National Data Repository ,quality indicators ,performance measures ,Family medicine ,consensus building ,Pediatrics, Perinatology and Child Health ,business - Abstract
Newborn screening is a public health program facilitated by state public health departments with the goal of improving the health of affected newborns throughout the country. Experts in the newborn screening community established a panel of eight quality indicators (QIs) to track quality practices within and across the United States newborn screening system. The indicators were developed following iterative refinement, consensus building, and evaluation. The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) implemented a national data repository in 2013 that captures the quality improvement metrics from each state. The QIs span the newborn screening process from collection of a dried blood spot through medical intervention for a screened condition. These data are collected and analyzed to support data-driven outcome assessments and tracking performance to improve the quality of the newborn screening system.
- Published
- 2019
34. Immunoreactive trypsinogen (IRT) as a biomarker for cystic fibrosis: Challenges in newborn dried blood spot screening
- Author
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Philip M. Farrell, Jelili Ojodu, W. Harry Hannon, Bradford L. Therrell, and Gary S. Hoffman
- Subjects
Newborn screening ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Endocrinology, Diabetes and Metabolism ,Public health ,medicine.disease ,Biochemistry ,Cystic fibrosis ,Disease control ,Dried blood spot ,Endocrinology ,Family medicine ,Immunology ,Genetics ,Medicine ,Biomarker (medicine) ,Immunoreactive trypsinogen ,business ,Molecular Biology ,Genetic testing - Abstract
On May 23-24, 2011, a workshop entitled "Immunoreactive Trypsinogen (IRT) as a Biomarker for Cystic Fibrosis: Technical Issues and Challenges" was held in Annapolis, Maryland. The two-day workshop was co-hosted by the National Newborn Screening and Genetics Resource Center, Austin, Texas, and the Association of Public Health Laboratories, Silver Spring, Maryland, in collaboration with the Health Resources and Services Administration and the Centers for Disease Control and Prevention. Participants included nearly 40 representatives from U.S. state public health and commercial laboratories performing newborn dried blood spot screening tests for cystic fibrosis (CF), the federal government, academic research institutions, and commercial vendors of products used in newborn screening. Representatives from selected European CF newborn screening programs were also present. The workshop focused on identifying key IRT testing issues and mechanisms for achieving their resolution and laboratory harmonization in order to reduce, or eliminate completely, the late identified CF cases following a negative newborn screen. Informative findings are reported, their impacts on improving IRT screening are described, and their implications are discussed.
- Published
- 2012
35. Community engagement to inform the development of a sickle cell counselor training and certification program in Ghana
- Author
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Marsha Treadwell, Careema Yusuf, Jelili Ojodu, Mary E. Lamptey, Mabel K. Asafo, Althea M. Grant, Kwaku Ohene-Frempong, Ayo Otaigbe, Jemima A. Dennis-Antwi, and Kofi A. Anie
- Subjects
0301 basic medicine ,Family therapy ,Pediatric Research Initiative ,medicine.medical_specialty ,Epidemiology ,education ,Certification ,030105 genetics & heredity ,03 medical and health sciences ,Rare Diseases ,0302 clinical medicine ,Nursing ,Clinical Research ,Behavioral and Social Science ,Genetics ,medicine ,Genetics (clinical) ,Pediatric ,Sickle Cell Disease ,0604 Genetics ,Government ,Sickle cell trait ,Community engagement ,business.industry ,Prevention ,Public health ,Public Health, Environmental and Occupational Health ,Hematology ,medicine.disease ,Quality Education ,Good Health and Well Being ,030220 oncology & carcinogenesis ,Original Article ,business ,Psychosocial ,Qualitative research - Abstract
Sickle cell disease (SCD) and sickle cell trait (SCT) are highly prevalent in Africa. Despite public health implications, there is limited understanding of community issues for implementing newborn screening and appropriate family counseling. We conducted a 3-day workshop in Kumasi, Ghana, with community leaders as lay program development advisors to assist the development and implementation of a Sickle Cell Counselor Training and Certification Program. We employed qualitative methods to understand cultural, religious, and psychosocial dimensions of SCD and SCT, including the advisors' attitudes and beliefs in relation to developing a culturally sensitive approach to family education and counseling that is maximally suited to diverse communities in Ghana. We collated advisors' discussions and observations in order to understand community issues and potential challenges and guide strategies for advocacy in SCD family education and counseling. Results from the workshop revealed that community leaders representing diverse communities in Ghana were engaged constructively in discussions about developing a culturally sensitive counselor training program. Key findings included the importance of improved knowledge about SCD among the public and youth in particular, the value of stakeholders such as elders and religious and traditional leaders, and government expectations of reduced SCD births. We submitted a report to the Ministry of Health in Ghana with recommendations for the next steps in developing a national sickle cell counselor training program. We named the program "Genetic Education and Counseling for Sickle Cell Conditions in Ghana" (GENECIS-Ghana). The first GENECIS-Ghana Training and Certification Program Workshop was conducted from June 8 to 12, 2015.
- Published
- 2015
36. Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance
- Author
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Careema Yusuf, Kupper A. Wintergerst, Cynthia F. Hinton, Sikha Singh, Susan R. Rose, Richard B. Parad, Kathryn L. Hassell, Marci K. Sontag, Lorenzo D. Botto, Sara Copeland, Kim Smith-Whitley, Jelili Ojodu, Deboshree Sarkar, and Anne Marie Comeau
- Subjects
medicine.medical_specialty ,Article ,03 medical and health sciences ,0302 clinical medicine ,Immunology and Microbiology (miscellaneous) ,Public health surveillance ,030225 pediatrics ,Medicine ,case definitions ,Human services ,Disease burden ,Newborn screening ,newborn screening ,business.industry ,Public health ,lcsh:RJ1-570 ,short-term follow up ,Obstetrics and Gynecology ,lcsh:Pediatrics ,public health surveillance ,Categorization ,Clinical diagnosis ,Family medicine ,Pediatrics, Perinatology and Child Health ,business ,030217 neurology & neurosurgery - Abstract
Newborn screening (NBS) identifies infants with rare conditions to prevent death or the onset of irreversible morbidities. Conditions on the Health and Human Services Secretary’s Recommended Uniform Screening Panel have been adopted by most state NBS programs, providing a consistent approach for identification of affected newborns across the United States. Screen-positive newborns are identified and referred for confirmatory diagnosis and follow-up. The designation of a clinically significant phenotype precursor to a clinical diagnosis may vary between clinical specialists, resulting in diagnostic variation. Determination of disease burden and birth prevalence of the screened conditions by public health tracking is made challenging by these variations. This report describes the development of a core group of new case definitions, along with implications, plans for their use, and links to the definitions that were developed by panels of clinical experts. These definitions have been developed through an iterative process and are piloted in NBS programs. Consensus public health surveillance case definitions for newborn screened disorders will allow for consistent categorization and tracking of short- and long-term follow-up of identified newborns at the local, regional, and national levels.
- Published
- 2018
37. Minnesota Department of Health long-term follow-up of newborn screening conditions: New applications for Pompe disease and MPS I
- Author
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Jelili Ojodu, Amy Gaviglio, Anthony Steyermark, Kristi Bentler, and Elise Holmes
- Subjects
Newborn screening ,Pediatrics ,medicine.medical_specialty ,Endocrinology ,Long term follow up ,business.industry ,Endocrinology, Diabetes and Metabolism ,Genetics ,Medicine ,Disease ,business ,Molecular Biology ,Biochemistry - Published
- 2018
38. Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states
- Author
-
W. Harry Hannon, Stuart K. Shapira, Jelili Ojodu, Elizabeth Jones, Cynthia F. Hinton, and Patrice K. Held
- Subjects
Male ,Pediatrics ,medicine.medical_specialty ,Diagnostic information ,Neonatal intensive care unit ,Endocrinology, Diabetes and Metabolism ,Demographic data ,Biochemistry ,Article ,Endocrinology ,Neonatal Screening ,Genetics ,medicine ,Humans ,Congenital adrenal hyperplasia ,Molecular Biology ,Genetic testing ,Retrospective Studies ,Newborn screening ,medicine.diagnostic_test ,Adrenal Hyperplasia, Congenital ,business.industry ,Infant, Newborn ,Infant ,Retrospective cohort study ,Odds ratio ,medicine.disease ,United States ,Female ,business ,Algorithms - Abstract
There is no clear consensus among state newborn screening programs on whether routine second screening of newborns identifies clinically relevant cases of congenital adrenal hyperplasia. This retrospective study evaluated laboratory practices, along with biochemical and medical characteristics of congenital adrenal hyperplasia (CAH) cases (1) detected on the first newborn screen in one-screen compared to two-screen states, and (2) detected on the first versus the second screen in the two-screen states, to determine the effectiveness of a second screen. A total of 374 confirmed cases of CAH from 2 one-screen states and 5 two-screen states were included in this study. Demographic data and diagnostic information on each reported case were collected and analyzed. Additionally, laboratory data, including screening methodologies and algorithms, were evaluated. The one-screen states reported 99 cases of CAH out of 1,740,586 (1 in 17,500) newborns screened: 88 (89%) identified on the first screen and 5 (5%) identified on the targeted second screen. The two-screen states reported 275 cases of CAH out of 2,629,627 (1 in 9500) newborns screened: 165 (60%) identified on the first screen and 99 (36%) identified on the second screen. Using a multivariate model, the only significant predictor of whether a case was identified on the first or the second screen in the two-screen states was the type of CAH. Compared with classical salt-wasting CAH, classical simple virilizing and non-classical CAH cases were less likely to be detected on the first versus the second screen. The routine second newborn screen is important for identifying children with CAH, particularly simple virilizing and non-classical forms, which might otherwise not be captured through a single screen.
- Published
- 2015
39. Incidence of sickle cell trait--United States, 2010
- Author
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Jelili, Ojodu, Mary M, Hulihan, Shammara N, Pope, and Althea M, Grant
- Subjects
Neonatal Screening ,Incidence ,Racial Groups ,Infant, Newborn ,Humans ,Hispanic or Latino ,Articles ,United States ,Sickle Cell Trait - Abstract
Persons with sickle cell trait (SCT) are heterozygous carriers of an abnormal ß-globin gene that results in the production of an abnormal hemoglobin, Hb S, which can distort red blood cells (http://www.cdc.gov/ncbddd/sicklecell/facts.html). All state newborn screening (NBS) programs have provided universal sickle cell disease (SCD) screening for newborns since 2006. Screening for SCD detects both SCD and SCT. To obtain up-to-date measures of the occurrence of SCT among newborns by race/ethnicity and state of birth, data collected by state NBS programs in 2010 were examined. In 2010, the incidence of SCT in participating states was 15.5 per 1,000 newborns overall; 73.1 among black newborns and 6.9 among Hispanic newborns. Incidence by state ranged from 0.8 per 1,000 screened newborns in Montana to 34.1 per 1,000 in Mississippi. Although the occurrence of SCT varies greatly from state-to-state and among different races and ethnicities, every state and racial/ethnic population includes persons living with the condition. The period immediately following NBS is ideal for primary care providers and genetic counselors to begin educating the families of identified persons with SCT about potential health complications and reproductive considerations.
- Published
- 2014
40. State-of-the-states: newborn screening for lysosomal diseases
- Author
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Sikha Singh, Guisou Zarbalian, and Jelili Ojodu
- Subjects
Newborn screening ,Pediatrics ,medicine.medical_specialty ,Endocrinology ,business.industry ,Endocrinology, Diabetes and Metabolism ,Genetics ,Medicine ,business ,Molecular Biology ,Biochemistry - Published
- 2017
41. Describing the utility of the newborn screening Molecular Assessment Program (MAP) in US Public Health Laboratories
- Author
-
Jelili Ojodu, Suzanne N. Cordovado, Carla D. Cuthbert, Ruhiyyih A. Degeberg, and Christopher R. Greene
- Subjects
medicine.medical_specialty ,Newborn screening ,business.industry ,Family medicine ,Environmental health ,Public health ,Clinical Biochemistry ,medicine ,General Medicine ,business - Published
- 2014
42. Maternal and Neonatal Vitamin B12 Deficiency Detected through Expanded Newborn Screening—United States, 2003–2007
- Author
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W. Harry Hannon, Jelili Ojodu, Cynthia F. Hinton, Paul M. Fernhoff, Kelley S. Scanlon, and Sonja A. Rasmussen
- Subjects
Adult ,Male ,medicine.medical_specialty ,Malabsorption ,Atrophic gastritis ,Mothers ,Physiology ,Cobalamin ,chemistry.chemical_compound ,Neonatal Screening ,Pregnancy ,Risk Factors ,Surveys and Questionnaires ,Internal medicine ,medicine ,Humans ,Cyanocobalamin ,Vitamin B12 ,Maternal-Fetal Exchange ,Newborn screening ,business.industry ,Infant, Newborn ,Vitamin B 12 Deficiency ,Maternal Nutritional Physiological Phenomena ,medicine.disease ,United States ,Pregnancy Complications ,B vitamins ,Malnutrition ,Endocrinology ,chemistry ,Pediatrics, Perinatology and Child Health ,Female ,business - Abstract
The incidence of neonatal vitamin B 12 (cobalamin) deficiency because of maternal deficiency was determined by surveying state newborn screening programs. Thirty-two infants with nutritional vitamin B 12 deficiency were identified (0.88/100 000 newborns). Pregnant women should be assessed for their risk of inadequate intake/malabsorption of vitamin B 12 .
- Published
- 2010
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