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Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs

Since the approval of modifying therapies for Spinal Muscular Atrophy (SMA), several protocols aiming to screen SMN1 homozygous deletion in a neonatal context have been published. However, no work has compared different methodologies along with detailed implementation costs for centers where the neo...

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Autores principales: Romanelli Tavares, Vanessa Luiza, Monfardini, Frederico, Lourenço, Naila Cristina Vilaça, da Rocha, Katia Maria, Weinmann, Karina, Pavanello, Rita, Zatz, Mayana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396021/
https://www.ncbi.nlm.nih.gov/pubmed/34449526
http://dx.doi.org/10.3390/ijns7030053
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author Romanelli Tavares, Vanessa Luiza
Monfardini, Frederico
Lourenço, Naila Cristina Vilaça
da Rocha, Katia Maria
Weinmann, Karina
Pavanello, Rita
Zatz, Mayana
author_facet Romanelli Tavares, Vanessa Luiza
Monfardini, Frederico
Lourenço, Naila Cristina Vilaça
da Rocha, Katia Maria
Weinmann, Karina
Pavanello, Rita
Zatz, Mayana
author_sort Romanelli Tavares, Vanessa Luiza
collection PubMed
description Since the approval of modifying therapies for Spinal Muscular Atrophy (SMA), several protocols aiming to screen SMN1 homozygous deletion in a neonatal context have been published. However, no work has compared different methodologies along with detailed implementation costs for centers where the neonatal screening of SMA has not yet been implemented. Therefore, our work compared different qualitative real-time PCR approaches for SMA screening and the estimated costs of test implementation. Using Brazilian blood samples, the presence and absence (P/A) and melt curve protocols were analyzed. MLPA was used as a confirmatory test. The costs were calculated for the simplex and multiplex tests plus equipment. The test workflow was based on the present experience and literature report. The accuracy of the P/A protocol was 1 (95% CI 0.8677−1) using dried blood spots (DBS). The melt curve protocol also achieved 100% concordance. The consumable costs ranged from USD 1.68 to 4.42 and from USD 2.04 to 12.76 per reaction, for the simplex and multiplex tests, respectively. The equipment acquisition costs ranged from USD 44,817.07 to 467,253.10, with several factors influencing this value presented. Our work presents a framework for decision-making, with a project demonstration of the different assays that will be useful in dealing with the issues of cost and availability of reagents. Moreover, we present a literature review and discussion of important concerns regarding treatment policies. We take the first step towards a future SMA NBS pilot program where it is not yet a reality.
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spelling pubmed-83960212021-08-28 Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs Romanelli Tavares, Vanessa Luiza Monfardini, Frederico Lourenço, Naila Cristina Vilaça da Rocha, Katia Maria Weinmann, Karina Pavanello, Rita Zatz, Mayana Int J Neonatal Screen Article Since the approval of modifying therapies for Spinal Muscular Atrophy (SMA), several protocols aiming to screen SMN1 homozygous deletion in a neonatal context have been published. However, no work has compared different methodologies along with detailed implementation costs for centers where the neonatal screening of SMA has not yet been implemented. Therefore, our work compared different qualitative real-time PCR approaches for SMA screening and the estimated costs of test implementation. Using Brazilian blood samples, the presence and absence (P/A) and melt curve protocols were analyzed. MLPA was used as a confirmatory test. The costs were calculated for the simplex and multiplex tests plus equipment. The test workflow was based on the present experience and literature report. The accuracy of the P/A protocol was 1 (95% CI 0.8677−1) using dried blood spots (DBS). The melt curve protocol also achieved 100% concordance. The consumable costs ranged from USD 1.68 to 4.42 and from USD 2.04 to 12.76 per reaction, for the simplex and multiplex tests, respectively. The equipment acquisition costs ranged from USD 44,817.07 to 467,253.10, with several factors influencing this value presented. Our work presents a framework for decision-making, with a project demonstration of the different assays that will be useful in dealing with the issues of cost and availability of reagents. Moreover, we present a literature review and discussion of important concerns regarding treatment policies. We take the first step towards a future SMA NBS pilot program where it is not yet a reality. MDPI 2021-08-11 /pmc/articles/PMC8396021/ /pubmed/34449526 http://dx.doi.org/10.3390/ijns7030053 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Romanelli Tavares, Vanessa Luiza
Monfardini, Frederico
Lourenço, Naila Cristina Vilaça
da Rocha, Katia Maria
Weinmann, Karina
Pavanello, Rita
Zatz, Mayana
Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs
title Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs
title_full Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs
title_fullStr Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs
title_full_unstemmed Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs
title_short Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs
title_sort newborn screening for 5q spinal muscular atrophy: comparisons between real-time pcr methodologies and cost estimations for future implementation programs
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396021/
https://www.ncbi.nlm.nih.gov/pubmed/34449526
http://dx.doi.org/10.3390/ijns7030053
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