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Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease.
Hays, Thomas; Hernan, Rebecca; Disco, Michele; Griffin, Emily L; Goldshtrom, Nimrod; Vargas, Diana; Krishnamurthy, Ganga; Bomback, Miles; Rehman, Atteeq U; Wilson, Amanda T; Guha, Saurav; Phadke, Shruti; Okur, Volkan; Robinson, Dino; Felice, Vanessa; Abhyankar, Avinash; Jobanputra, Vaidehi; Chung, Wendy K.
Afiliación
  • Hays T; Division of Neonatology, Department of Pediatrics (T.H., N.G., D.V., G.K.), Columbia University Irving Medical Center, New York, NY.
  • Hernan R; Division of Genetics, Department of Pediatrics (R.H., M.D., E.L.G., W.K.C.), Columbia University Irving Medical Center, New York, NY.
  • Disco M; Division of Genetics, Department of Pediatrics (R.H., M.D., E.L.G., W.K.C.), Columbia University Irving Medical Center, New York, NY.
  • Griffin EL; Division of Genetics, Department of Pediatrics (R.H., M.D., E.L.G., W.K.C.), Columbia University Irving Medical Center, New York, NY.
  • Goldshtrom N; Division of Neonatology, Department of Pediatrics (T.H., N.G., D.V., G.K.), Columbia University Irving Medical Center, New York, NY.
  • Vargas D; Division of Neonatology, Department of Pediatrics (T.H., N.G., D.V., G.K.), Columbia University Irving Medical Center, New York, NY.
  • Krishnamurthy G; Division of Neonatology, Department of Pediatrics (T.H., N.G., D.V., G.K.), Columbia University Irving Medical Center, New York, NY.
  • Bomback M; Feinberg School of Medicine, Northwestern University, Chicago, IL (M.B.).
  • Rehman AU; New York Genome Center, New York, NY (A.U.R., A.T.W., S.G., S.P., V.O., D.R., V.F., A.A., V.J.).
  • Wilson AT; New York Genome Center, New York, NY (A.U.R., A.T.W., S.G., S.P., V.O., D.R., V.F., A.A., V.J.).
  • Guha S; New York Genome Center, New York, NY (A.U.R., A.T.W., S.G., S.P., V.O., D.R., V.F., A.A., V.J.).
  • Phadke S; New York Genome Center, New York, NY (A.U.R., A.T.W., S.G., S.P., V.O., D.R., V.F., A.A., V.J.).
  • Okur V; New York Genome Center, New York, NY (A.U.R., A.T.W., S.G., S.P., V.O., D.R., V.F., A.A., V.J.).
  • Robinson D; New York Genome Center, New York, NY (A.U.R., A.T.W., S.G., S.P., V.O., D.R., V.F., A.A., V.J.).
  • Felice V; New York Genome Center, New York, NY (A.U.R., A.T.W., S.G., S.P., V.O., D.R., V.F., A.A., V.J.).
  • Abhyankar A; New York Genome Center, New York, NY (A.U.R., A.T.W., S.G., S.P., V.O., D.R., V.F., A.A., V.J.).
  • Jobanputra V; Department of Pathology & Cell Biology (V.J.), Columbia University Irving Medical Center, New York, NY.
  • Chung WK; New York Genome Center, New York, NY (A.U.R., A.T.W., S.G., S.P., V.O., D.R., V.F., A.A., V.J.).
Circ Genom Precis Med ; 16(5): 415-420, 2023 10.
Article en En | MEDLINE | ID: mdl-37417234
BACKGROUND: Rapid genome sequencing (rGS) has been shown to improve care of critically ill infants. Congenital heart disease (CHD) is a leading cause of infant mortality and is often caused by genetic disorders, yet the utility of rGS has not been prospectively studied in this population. METHODS: We conducted a prospective evaluation of rGS to improve the care of infants with complex CHD in our cardiac neonatal intensive care unit. RESULTS: In a cohort of 48 infants with complex CHD, rGS diagnosed 14 genetic disorders in 13 (27%) individuals and led to changes in clinical management in 8 (62%) cases with diagnostic results. These included 2 cases in whom genetic diagnoses helped avert intensive, futile interventions before cardiac neonatal intensive care unit discharge, and 3 cases in whom eye disease was diagnosed and treated in early childhood. CONCLUSIONS: Our study provides the first prospective evaluation of rGS for infants with complex CHD to our knowledge. We found that rGS diagnosed genetic disorders in 27% of cases and led to changes in management in 62% of cases with diagnostic results. Our model of care depended on coordination between neonatologists, cardiologists, surgeons, geneticists, and genetic counselors. These findings highlight the important role of rGS in CHD and demonstrate the need for expanded study of how to implement this resource to a broader population of infants with CHD.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad Crítica / Cardiopatías Congénitas Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans / Infant / Newborn Idioma: En Revista: Circ Genom Precis Med Año: 2023 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad Crítica / Cardiopatías Congénitas Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans / Infant / Newborn Idioma: En Revista: Circ Genom Precis Med Año: 2023 Tipo del documento: Article