A Lifespan Approach to Health and Well-Being Leveraging Neonatal Screening: Efforts in Advocacy, Academia, Research, and Clinical Care

A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: closed (29 February 2024) | Viewed by 6422

Special Issue Editors

1. University of Nebraska Medical Center (UNMC), Omaha, NE 68198, USA
2. Department of Health Professions, Creighton University School of Medicine, Omaha, NE 68178, USA
Interests: neonatal screening; genomics; public health; advocacy; diversity; equity; inclusion and justice (DEIJ); pediatric cancer; health outcomes; rare disease
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Guest Editor
1. ValueMinded LLC, Milwaukee, WI 53132, USA
2. School of Public Health, University of Illinois, Chicago, IL 60612, USA
Interests: neonatal screening; genomics; public health; cost-effectiveness analysis; health policy; health management

Special Issue Information

Dear Colleagues,

Neonatal screening has the population-wide potential to improve the health and well-being of individuals throughout their lives. In the United States, over three million newborns, regardless of their parents’ geographic location, race, economics, or educational level, receive screening for conditions that benefit from early identification and intervention. Discoveries in genomics that enable screening, diagnosis, treatment, and disease management throughout an individual’s lifespan present an unparalleled opportunity to improve health outcomes and manage well-being beyond the neonatal period. This Special Issue features innovative efforts from communities who are helping to chart a course toward the use of a lifespan approach with the goal of assuring the best possible outcome for all newborns, their families, and their communities.

Dr. Amy Brower
Dr. Kee Chan
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • neonatal
  • newborns
  • lifespan
  • genomics
  • diversity
  • equity
  • inclusion
  • justice
  • public health

Published Papers (6 papers)

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12 pages, 778 KiB  
Article
Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening
by Yvonne Kellar-Guenther, Lauren Barringer, Katherine Raboin, Ginger Nichols, Kathy Y. F. Chou, Kathy Nguyen, Amy R. Burke, Sandy Fawbush, Joyal B. Meyer, Morna Dorsey, Amy Brower, Kee Chan, Mei Lietsch, Jennifer Taylor, Michele Caggana and Marci K. Sontag
Int. J. Neonatal Screen. 2024, 10(2), 37; https://0-doi-org.brum.beds.ac.uk/10.3390/ijns10020037 - 15 May 2024
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Abstract
Newborn screening (NBS) is hailed as a public health success, but little is known about the long-term outcomes following a positive newborn screen. There has been difficulty gathering long-term follow-up (LTFU) data consistently, reliably, and with minimal effort. Six programs developed and tested [...] Read more.
Newborn screening (NBS) is hailed as a public health success, but little is known about the long-term outcomes following a positive newborn screen. There has been difficulty gathering long-term follow-up (LTFU) data consistently, reliably, and with minimal effort. Six programs developed and tested a core set of minimal LTFU data elements. After an iterative data collection process and the development of a data collection tool, the group agreed on the minimal LTFU data elements. The denominator captured all infants with an NBS diagnosis, accounting for children who moved or died prior to the follow-up year. They also agreed on three LTFU outcomes: if the child was still alive, had contact with a specialist, and received appropriate care specific to their diagnosis within the year. The six programs representing NBS public health programs, clinical providers, and research programs provided data across multiple NBS disorders. In 2022, 83.8% (563/672) of the children identified by the LTFU programs were alive and living in the jurisdiction; of those, 92.0% (518/563) saw a specialist, and 87.7% (494/563) received appropriate care. The core LTFU data elements can be applied as a foundation to address the impact of early diagnosis by NBS within and across jurisdictions. Full article
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12 pages, 1439 KiB  
Article
Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy
by Oindrila Bhattacharyya, Nicola B. Campoamor, Niki Armstrong, Megan Freed, Rachel Schrader, Norah L. Crossnohere and John F. P. Bridges
Int. J. Neonatal Screen. 2024, 10(2), 32; https://0-doi-org.brum.beds.ac.uk/10.3390/ijns10020032 - 15 Apr 2024
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Abstract
Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder diagnosed in childhood. Limited newborn screening in the US often delays diagnosis. With multiple FDA-approved therapies, early diagnosis is crucial for timely treatment but may entail other benefits and harms. Using a community-based survey, [...] Read more.
Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder diagnosed in childhood. Limited newborn screening in the US often delays diagnosis. With multiple FDA-approved therapies, early diagnosis is crucial for timely treatment but may entail other benefits and harms. Using a community-based survey, we explored how parents of siblings with DMD perceived early diagnosis of one child due to a prior child’s diagnosis. We assessed parents’ viewpoints across domains including diagnostic journey, treatment initiatives, service access, preparedness, parenting, emotional impact, and caregiving experience. We analyzed closed-ended responses on a −1.0 to +1.0 scale to measure the degree of harm or benefit parents perceived and analyzed open-ended responses thematically. A total of 45 parents completed the survey, with an average age of 43.5 years and 20.0% identifying as non-white. Younger siblings were diagnosed 2 years earlier on average (p < 0.001). Overall, parents viewed early diagnosis positively (mean: 0.39), particularly regarding school preparedness (+0.79), support services (+0.78), treatment evaluation (+0.68), and avoiding diagnostic odyssey (+0.67). Increased worry was a common downside (−0.40). Open-ended responses highlighted improved outlook and health management alongside heightened emotional distress and treatment burdens. These findings address gaps in the evidence by documenting the effectiveness of early screening and diagnosis of DMD using sibling data. Full article
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15 pages, 5031 KiB  
Article
Advancing Newborn Screening Long-Term Follow-Up: Integration of Epic-Based Registries, Dashboards, and Efficient Workflows
by Katherine Raboin, Debra Ellis, Ginger Nichols, Marcia Hughes, Michael Brimacombe and Karen Rubin
Int. J. Neonatal Screen. 2024, 10(2), 27; https://0-doi-org.brum.beds.ac.uk/10.3390/ijns10020027 - 25 Mar 2024
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Abstract
The Connecticut Newborn Screening (NBS) Network, in partnership with the Connecticut Department of Public Health, strategically utilized the Epic electronic health record (EHR) system to establish registries for tracking long-term follow-up (LTFU) of NBS patients. After launching the LTFU registry in 2019, the [...] Read more.
The Connecticut Newborn Screening (NBS) Network, in partnership with the Connecticut Department of Public Health, strategically utilized the Epic electronic health record (EHR) system to establish registries for tracking long-term follow-up (LTFU) of NBS patients. After launching the LTFU registry in 2019, the Network obtained funding from the Health Resources and Services Administration to address the slow adoption by specialty care teams. An LTFU model was implemented in the three highest-volume specialty care teams at Connecticut Children’s, involving an early childhood cohort diagnosed with an NBS-identified disorder since the formation of the Network in March 2019. This cohort grew from 87 to 115 over the two-year project. Methods included optimizing registries, capturing external data from Health Information Exchanges, incorporating evidence-based guidelines, and conducting qualitative and quantitative evaluations. The early childhood cohort demonstrated significant and sustainable improvements in the percentage of visits up-to-date (%UTD) compared to the non-intervention legacy cohort of patients diagnosed with an NBS disorder before the formation of the Network. Positive trends in the early childhood cohort, including %UTD for visits and condition-specific performance metrics, were observed. The qualitative evaluation highlighted the achievability of practice behavior changes for specialty care teams through responsive support from the nurse analyst. The Network’s model serves as a use case for applying and achieving the adoption of population health tools within an EHR system to track care delivery and quickly fill identified care gaps, with the aim of improving long-term health for NBS patients. Full article
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14 pages, 709 KiB  
Article
Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality Assurance: Results from the ENHANCE Study
by Najibah Galadanci, Shannon Phillips, Alyssa Schlenz, Nataliya Ivankova and Julie Kanter
Int. J. Neonatal Screen. 2024, 10(1), 22; https://0-doi-org.brum.beds.ac.uk/10.3390/ijns10010022 - 8 Mar 2024
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Abstract
Newborn screening (NBS) for sickle cell disease (SCD) has significantly improved childhood survival but there are still gaps resulting in delayed care for affected infants. As a state-run program, there are no national quality assurance programs to ensure each state achieves consistent, reliable [...] Read more.
Newborn screening (NBS) for sickle cell disease (SCD) has significantly improved childhood survival but there are still gaps resulting in delayed care for affected infants. As a state-run program, there are no national quality assurance programs to ensure each state achieves consistent, reliable outcomes. We performed this qualitative study of NBS follow-up practices to better evaluate and understand the multi-level, state-specific processes of how each state’s public health department delivers the NBS results to families, how/if they ensure affected infants are seen quickly by sickle cell specialists, and to determine the close-out processes used in each state. This project used semi-structured interviews conducted with 29 participants across eight states to explore these NBS follow-up processes in each state. Participants included SCD providers, NBS coordinators, or personnel associated with state health departments and community-based SCD organizations (CBO). Our results show significant state-dependent variations in the NBS processes of information delivery and patient management. Specifically, programs differed in how they communicated results to affected families and which other organizations were informed of the diagnosis. There was also state-based (and intrastate) variation in who should assume responsibility for ensuring that infants receive confirmatory testing and are promptly started on penicillin prophylaxis. Case closure was also highly variable and poorly validated. Our results also yielded identifiable challenges and facilitators to NBS which were highly variable by state but potentially addressable in the future. This information suggests opportunities for systematic improvement in NBS follow-up processes. Full article
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12 pages, 2300 KiB  
Brief Report
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening
by Mei Lietsch, Kee Chan, Jennifer Taylor, Bo Hoon Lee, Emma Ciafaloni, Jennifer M. Kwon, Megan A. Waldrop, Russell J. Butterfield, Geetanjali Rathore, Aravindhan Veerapandiyan, Arya Kapil, Julie A. Parsons, Melissa Gibbons and Amy Brower
Int. J. Neonatal Screen. 2024, 10(2), 34; https://0-doi-org.brum.beds.ac.uk/10.3390/ijns10020034 - 18 Apr 2024
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Abstract
In the United States and around the world, newborns are screened on a population basis for conditions benefiting from pre-symptomatic diagnosis and treatment. The number of screened conditions continues to expand as novel technologies for screening, diagnosing, treating, and managing disease are discovered. [...] Read more.
In the United States and around the world, newborns are screened on a population basis for conditions benefiting from pre-symptomatic diagnosis and treatment. The number of screened conditions continues to expand as novel technologies for screening, diagnosing, treating, and managing disease are discovered. While screening all newborns facilitates early diagnosis and treatment, most screened conditions are treatable but not curable. Patients identified by newborn screening often require lifelong medical management and community support to achieve the best possible outcome. To advance the long-term follow-up of infants identified through newborn screening (NBS), the Long-Term Follow-up Cares and Check Initiative (LTFU-Cares and Check) designed, implemented, and evaluated a system of longitudinal data collection and annual reporting engaging parents, clinical providers, and state NBS programs. The LTFU-Cares and Check focused on newborns identified with spinal muscular atrophy (SMA) through NBS and the longitudinal health information prioritized by parents and families. Pediatric neurologists who care for newborns with SMA entered annual data, and data tracking and visualization tools were delivered to state NBS programs with a participating clinical center. In this publication, we report on the development, use of, and preliminary results from the LTFU-Cares and Check Initiative, which was designed as a comprehensive model of LTFU. We also propose next steps for achieving the goal of a national system of LTFU for individuals with identified conditions by meaningfully engaging public health agencies, clinicians, parents, families, and communities. Full article
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6 pages, 171 KiB  
Commentary
An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders
by Wendy K. Chung, Stephen M. Kanne and Zhanzhi Hu
Int. J. Neonatal Screen. 2024, 10(2), 33; https://0-doi-org.brum.beds.ac.uk/10.3390/ijns10020033 - 16 Apr 2024
Viewed by 805
Abstract
Screening newborns using genome sequencing is being explored due to its potential to expand the list of conditions that can be screened. Previously, we proposed the need for large-scale pilot studies to assess the feasibility of screening highly penetrant genetic neurodevelopmental disorders. Here, [...] Read more.
Screening newborns using genome sequencing is being explored due to its potential to expand the list of conditions that can be screened. Previously, we proposed the need for large-scale pilot studies to assess the feasibility of screening highly penetrant genetic neurodevelopmental disorders. Here, we discuss the initial experience from the GUARDIAN study and the systemic gaps in clinical services that were identified in the early stages of the pilot study. Full article
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