Last data update: Apr 22, 2024. (Total: 46599 publications since 2009)
Records 1-6 (of 6 Records) |
Query Trace: Gaviglio A [original query] |
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Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
Adang LA , Bonkowsky JL , Boelens JJ , Mallack E , Ahrens-Nicklas R , Bernat JA , Bley A , Burton B , Darling A , Eichler F , Eklund E , Emrick L , Escolar M , Fatemi A , Fraser JL , Gaviglio A , Keller S , Patterson MC , Orchard P , Orthmann-Murphy J , Santoro JD , Schöls L , Sevin C , Srivastava IN , Rajan D , Rubin JP , Van Haren K , Wasserstein M , Zerem A , Fumagalli F , Laugwitz L , Vanderver A . Cytotherapy 2024 Metachromatic leukodystrophy (MLD) is a fatal, progressive neurodegenerative disorder caused by biallelic pathogenic mutations in the ARSA (Arylsulfatase A) gene. With the advent of presymptomatic diagnosis and the availability of therapies with a narrow window for intervention, it is critical to define a standardized approach to diagnosis, presymptomatic monitoring, and clinical care. To meet the needs of the MLD community, a panel of MLD experts was established to develop disease-specific guidelines based on healthcare resources in the United States. This group developed a consensus opinion for best-practice recommendations, as follows: (i) Diagnosis should include both genetic and biochemical testing; (ii) Early diagnosis and treatment for MLD is associated with improved clinical outcomes; (iii) The panel supported the development of newborn screening to accelerate the time to diagnosis and treatment; (iv) Clinical management of MLD should include specialists familiar with the disease who are able to follow patients longitudinally; (v) In early onset MLD, including late infantile and early juvenile subtypes, ex vivo gene therapy should be considered for presymptomatic patients where available; (vi) In late-onset MLD, including late juvenile and adult subtypes, hematopoietic cell transplant (HCT) should be considered for patients with no or minimal disease involvement. This document summarizes current guidance on the presymptomatic monitoring of children affected by MLD as well as the clinical management of symptomatic patients. Future data-driven evidence and evolution of these recommendations will be important to stratify clinical treatment options and improve clinical care. |
Progress in expanding newborn screening in the United States
Grosse SD , Cuthbert C , Gaffney M , Gaviglio A , Hinton CF , Kellar-Guenther Y , Kemper AR , McKasson S , Ojodu J , Riley C , Singh S , Sontag MK , Shapira SK . Am J Hum Genet 2023 110 (6) 1015-1016 We read with interest the recent article by Kingsmore et al., who suggest that universal newborn rapid whole-genome sequencing is attractive for “comprehensive” newborn screening (NBS).1 Existing US NBS programs are based on mandated routine testing of newborns; evidence-based decision-making processes exist for this testing.2 Whether policy makers also consider routine rapid whole-genome sequencing of newborns to be warranted may depend on the resolution of a number of evidentiary, ethical, legal, social, and economic issues.3 Kingsmore et al. suggest that sequencing can complement existing public-health NBS programs but acknowledge the challenge of reconciling universal or near-universal genomic screening with informed parental consent and the allowable secondary use of genomic information.1 |
Genomics and Newborn Screening: Perspectives of Public Health Programs.
Goldenberg AJ , Ponsaran R , Gaviglio A , Simancek D , Tarini BA . Int J Neonatal Screen 2022 8 (1) This study assesses the benefits and challenges of using genomics in Newborn Screening Programs (NBS) from the perspectives of State program officials. This project aims to help programs develop policies that will aid in the integration of genomic technology. Discussion groups were conducted with the NBS Program and Laboratory Directors in the seven HRSA Regional Genomics Collaboratives (August 2014–March 2016). The discussion groups addressed expected uses of genomics, potential benefits, and challenges of integrating genomic technology, and educational needs for parents and other NBS stakeholders: Twelve focus groups were conducted, which included participants from over 40 state programs. Benefits of incorporating genomics included improving screening modalities, supporting diagnostic procedures, and screening for a wider spectrum of disorders. Challenges included the costs of genomics, the ability to educate parents and health care providers about results, and the potential negative psychosocial impact of genomic information. Attempts to address the challenges of integrating genomics must focus on preserving the child welfare goals of NBS programs. Health departments will need to explore how genomics could be used to enhance programs while maintaining universal access to screening. © 2022 by the authors. Licensee MDPI, Basel, Switzerland. |
Common Challenges and Identified Solutions for State Newborn Screening Programs during COVID-19 Pandemic.
Simon D , Broadbridge E , Baker M , Gaviglio A , Gruber D , Piper KN , Tavakoli NP , Sullivan J , Kennedy A . Int J Neonatal Screen 2022 8 (1) During the COVID-19 pandemic, state newborn screening programs faced challenges to ensure this essential public health program continued to function at a high level. In December 2020, the EveryLife Foundation for Rare Diseases held a workshop to discuss these common challenges and solutions. Newborn screening officials described challenges including short staffing across the entire program, collection and transport of specimens, interrupted follow-up activities, and pilot study recruitment. To address these challenges, state programs implemented a wide variety of solutions to maintain the high standards of newborn screening. To address staffing issues, newborn screening programs, public health laboratories, and hospitals all cross-trained personnel, worked to manage staff stress, and established essential functions. Other solutions included working with courier companies to ensure the timely pick-up of specimen, creating educational materials for hospital staff, and the creation of hybrid recruitment models for pilot studies. Implementing the lessons discussed throughout this paper can help to prepare for the next public health emergencies to ensure that a program that interacts with millions of families every year and saves the lives of thousands of children every year is minimally impacted. 2022 by the authors. Licensee MDPI, Basel, Switzerland. |
Development of an Implementation Framework for Overcoming Underdiagnoses of Familial Hypercholesterolemia in the USA.
Miller DM , Gaviglio A , Zierhut HA . Public Health Genomics 2021 24 1-13 Familial hypercholesterolemia (FH) is a genetic condition which causes elevated low-density lipoprotein cholesterol from birth. With a prevalence of 1 in 250 and the availability of effective treatments, the diagnostic rate of <1 to 10% is unacceptably low. Screening for FH is supported by multiple organizations, but it has not been broadly adopted and implemented across the USA. To investigate the implementation of FH screening, key informants were recruited from across the USA for their expertise in FH-related literature, guidelines, public health, and/or advocacy to complete -semistructured interviews guided by implementation science (RE-AIM framework). Sixteen semistructured interviews were analyzed with directed content and thematic analyses, yielding specific barriers and recommendations to improve FH screening. Barriers to FH screening included patient recruitment and participation, equitable access to healthcare, provider discomfort with screening and treating FH, provider burden, lack of public health and legislative support, FH awareness, guideline complexity, facilitation of genetic testing and cascade screening, and lack of coordination between stakeholders. Awareness, engagement, communication, and collaboration between stakeholders is integral to successful FH screening. Individualized plans will be required at national, regional, and institutional levels. FH screening implementation can be achieved through practice facilitation, streamlined screening approaches, electric medical record tools, and consensus guidelines to increase screening adoption and consistent delivery. Reliable funding and established lines of communication between stakeholders can maintain efforts as FH screening progresses. |
Actions in support of newborn screening for critical congenital heart disease - United States, 2011-2018
Glidewell J , Grosse SD , Riehle-Colarusso T , Pinto N , Hudson J , Daskalov R , Gaviglio A , Darby E , Singh S , Sontag M . MMWR Morb Mortal Wkly Rep 2019 68 (5) 107-111 In 2011, the U.S. Department of Health and Human Services added critical congenital heart disease (CCHD), which occurs in two of every 1,000 births, to the list of conditions recommended to states for universal newborn screening (1). Without early detection, infants with CCHD are at risk for substantial morbidity and death in the first weeks and months of life (2). Based on 2007-2013 data, deaths from CCHD and other cardiac causes in infants aged <6 months significantly declined in infants born in eight states after they had fully implemented mandated newborn CCHD screening policies by June 2013 (3). CDC collaborated with the American Academy of Pediatrics (AAP) and the Association of Public Health Laboratories' Newborn Screening Technical Assistance and Evaluation Program (NewSTEPs) to update a 2015 report (4) on states' actions toward adopting and implementing policies supporting CCHD newborn screening. In 2018, all 50 states and the District of Columbia (DC) had implemented CCHD screening policies, and, with one exception, all states mandated that screening be done (California mandates that screening be offered). However, not all states had data systems in place for tracking all screening results and outcomes. Ongoing evaluation activities, which rely on screening data, could help identify program improvement opportunities and monitor the impact of early identification of CCHD. |
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