Abstract
Available evidence does not support limiting the use of rapid or ultra-rapid exome or genome sequencing in critically ill neonates to cases of predicted high diagnostic yield. Such testing is best positioned to improve neonatal care when test utilization is conceptualized within the total care of the family with a goal of rapid resolution of the diagnostic odyssey.
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References
Aldridge CE, Osiovich H, Hal Siden H, Elliott AM, Study R, Gen CS (2021) Rapid genome-wide sequencing in a neonatal intensive care unit: a retrospective qualitative exploration of parental experiences. J Genet Couns 30:616–629. https://doi.org/10.1002/jgc4.1353
Baldo F, Marin M, Murru FM, Barbi E, Tornese G (2021) Dealing with brain mri findings in pediatric patients with endocrinological conditions: less is more? Front Endocrinol (lausanne) 12:780763. https://doi.org/10.3389/fendo.2021.780763
Berrios C, Koertje C, Noel-MacDonnell J, Soden S, Lantos J (2020) Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naive. Genet Med 22:416–422. https://doi.org/10.1038/s41436-019-0644-5
Brett GR, Martyn M, Lynch F, de Silva MG, Ayres S, Gallacher L, Boggs K, Baxendale A, Schenscher S, King-Smith S, Fowles L, Springer A, Lunke S, Vasudevan A, Krzesinski E, Pinner J, Sandaradura SA, Barnett C, Patel C, Wilson M, Stark Z (2020) Parental experiences of ultrarapid genomic testing for their critically unwell infants and children. Genet Med 22:1976–1985. https://doi.org/10.1038/s41436-020-0912-4
Burns W, Chaudhari BP, Haffner DN (2022) Neurogenetic and metabolic mimics of common neonatal neurological disorders. Seminars in Pediatric Neurology. https://doi.org/10.1016/j.spen.2022.100972
Cakici JA, Dimmock DP, Caylor SA, Gaughran M, Clarke C, Triplett C, Clark MM, Kingsmore SF, Bloss CS (2020) A prospective study of parental perceptions of rapid whole-genome and -exome sequencing among seriously ill infants. Am J Hum Genet 107:953–962. https://doi.org/10.1016/j.ajhg.2020.10.004
Cheong JL, Coleman L, Hunt RW, Lee KJ, Doyle LW, Inder TE, Jacobs SE, Infant Cooling Evaluation C (2012) Prognostic utility of magnetic resonance imaging in neonatal hypoxic-ischemic encephalopathy: substudy of a randomized trial. Arch Pediatr Adolesc Med 166:634–640. https://doi.org/10.1001/archpediatrics.2012.284
Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF, Investigators R (2020) An RCT of rapid genomic sequencing among seriously Ill infants results in high clinical utility, changes in management, and low perceived harm. Am J Hum Genet 107:942–952. https://doi.org/10.1016/j.ajhg.2020.10.003
Eggers S, Wilson M, Patel C, Barnett CP, Pinner J, Sandaradura SA, Buckley MF, Krzesinski EI, de Silva MG, Brett GR, Boggs K, Mowat D, Kirk EP, Ades LC, Akesson LS, Amor DJ, Ayres S, Baxendale A, Borrie S, Bray A, Brown NJ, Chan CY, Chong B, Cliffe C, Delatycki MB, Edwards M, Elakis G, Fahey MC, Fennell A, Fowles L, Gallacher L, Higgins M, Howell KB, Hunt L, Hunter MF, Jones KJ, King S, Kumble S, Lang S, Le Moing M, Ma A, Phelan D, Quinn MCJ, Richards A, Richmond CM, Riseley J, Rodgers J, Sachdev R, Sadedin S, Schlapbach LJ, Smith J, Springer A, Tan NB, Tan TY, Temple SL, Theda C, Vasudevan A, White SM, Yeung A, Zhu Y, Martyn M, Best S, Roscioli T, Christodoulou J, Stark Z, Australian Genomics Health Alliance Acute Care F (2020) Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian Public Health Care System. JAMA 323:2503–2511. https://doi.org/10.1001/jama.2020.7671
Janvier A, Barrington K, Lantos J (2022) Next generation sequencing in neonatology: what does it mean for the next generation? Hum Genet 141:1027–1034. https://doi.org/10.1007/s00439-022-02438-9
Kumpulainen V, Lehtola SJ, Tuulari JJ, Silver E, Copeland A, Korja R, Karlsson H, Karlsson L, Merisaari H, Parkkola R, Saunavaara J, Lahdesmaki T, Scheinin NM (2019) Prevalence and Risk factors of incidental findings in brain mris of healthy neonates-the finnbrain birth cohort study. Front Neurol 10:1347. https://doi.org/10.3389/fneur.2019.01347
Mathew MT, Antoniou A, Ramesh N, Hu M, Gaither J, Mouhlas D, Hashimoto S, Humphrey M, Matthews T, Hunter JM, Reshmi S, Schultz M, Lee K, Pfau R, Cottrell C, McBride KL, Navin NE, Chaudhari BP, Leung ML (2022) A decade’s experience in pediatric chromosomal microarray reveals distinct characteristics across ordering specialties. J Mol Diagn. https://doi.org/10.1016/j.jmoldx.2022.06.001
Robinson JO (2021) Ask me later: deciding to have clinical exome trio sequencing for my critically ill child. Genet Med 23:1836–1837. https://doi.org/10.1038/s41436-021-01231-9
Shojania KG, Burton EC, McDonald KM, Goldman L (2003) Changes in rates of autopsy-detected diagnostic errors over time: a systematic review. JAMA 289:2849–2856. https://doi.org/10.1001/jama.289.21.2849
Stadelmaier RT, Kenna MA, Barrett D, Mullen TE, Bodamer O, Agrawal PB, Robson CD, Wojcik MH (2021) Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. Am J Med Genet A 185:3770–3783. https://doi.org/10.1002/ajmg.a.62450
Tejerina EE, Padilla R, Abril E, Frutos-Vivar F, Ballen A, Rodriguez-Barbero JM, Lorente JA, Esteban A (2018) Autopsy-detected diagnostic errors over time in the intensive care unit. Hum Pathol 76:85–90. https://doi.org/10.1016/j.humpath.2018.02.025
Vawter-Lee MM, Wasserman H, Thomas CW, Nichols B, Nagaraj UD, Schapiro M, Venkatesan C (2018) Outcome of isolated absent septum pellucidum diagnosed by fetal magnetic resonance imaging (MRI) scan. J Child Neurol 33:693–699. https://doi.org/10.1177/0883073818783460
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All authors jointly conceived of the work. Bimal P. Chaudhari wrote the first draft. All authors contributed to the revision of the manuscript including important intellectual content. All authors read and approved the final manuscript.
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Wojcik, M.H., Fishler, K.P. & Chaudhari, B.P. Re: “Next generation sequencing in neonatology: what does it mean for the next generation?”. Hum Genet 142, 161–164 (2023). https://doi.org/10.1007/s00439-022-02498-x
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DOI: https://doi.org/10.1007/s00439-022-02498-x