Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Moreno Carolina A, de França Marina, Prota Joana R M, Migliavacca Michele P, Teixeira Anne C B, de Azevedo Bruna M C, de Santana Lucas S, Perrone Eduardo, Espolaor Jéssica G A, Virmond Luiza A, Minillo Renata M, Yamada Renata Y, Cintra Vivian P, Quaio Caio R D C, Ceroni José R M, Chen Kelin, Silva Thiago Y T, Coelho Antonio V C, de Oliveira Gustavo S, Nascimento Junior José B, Moura Livia M S, Mofatto Luciana S, Caraciolo Marcel P, Guedes Rafael L M, Barreiro Rodrigo A S, Gomes Catarina S, Rodrigues Roseli F, Correia Lucas R, Oliveira Ana P A, Carlos Carolina D, da Matta Marina C, Lima Matheus M, Zurro Nuria B, Ferreira Ana F M, Colichio Gabriela B C, Campilongo Gabriela P, da Silva Renata M R, Ferreira Letícia T, Higaki Priscila I, Pelegrino Karla O, de Oliveira Allan C, Micheletti Cecília, Fock Rodrigo A, Sobreira Anna C X M, Dos Santos Andriene S, da Silva Raquel T B, Filho Joselito Sobreira, Laurentino Mariane B A L, Lyra Paula T, Cunha Ana L G, Mendes Camila C M, Lima Joziele S, Steiner Carlos E, Cavalcanti Denise P, Heleno Julia L, Kim Chong A, Carneiro-Sampaio Magda M S, de Carvalho Werther B, Ramos Ester S, de Almeida Marcela L, Ferriani Mariana P L, de Almeida Tatiana F, Oliveira João B
Аннотация
METHODS: A national prospective study was conducted through a public-private partnership. GS was performed on infants under one year of age admitted to intensive care units. Clinical utility was evaluated based on physician perception, impact on clinical management, relevance for infants or family members/caregivers, and implications for genetic counseling.
RESULTS: GS was performed on 100 infants, yielding a confirmed molecular diagnosis in 32% of cases. An additional 7% were classified as likely diagnostic, resulting in a potential diagnostic yield of 39%. The median turnaround time was 13 days (7-25 days). Physicians recognized clinical utility for 81.1% of participants. Diagnostic and negative test results impacted clinical management, genetic counseling and/or demonstrated relevance for infants and families in 100% and 86.9% of reports, respectively.
CONCLUSION: This study represents the largest South American cohort of critically ill infants evaluated by GS and provides a model for national implementation. Assessing clinical utility provided a comprehensive view of GS's impact.
IMPACT: This article shows that genome sequencing (GS) in critically ill infants has clinical utility beyond diagnostic yield and management changes. Our study provides additional genomic data from a population typically underrepresented in international genomic research. This study represents the largest cohort of critically ill infants evaluated by GS in South America, providing a model for national-level implementation of GS in a resource-constrained setting.