Pediatric genetic testing in the genomics era


  • Cláudia Falcão-Reis Medical Genetics Unit, Centro de Genética Médica Jacinto de Magalhães, Centro Hospitalar Universitário do Porto; Life and Health Sciences Research Institute (ICVS), School of Medicine, Universidade do Minho; ICVS/3B’s - PT Government Associate Laboratory



Fan Y, Wu Y, Wang L, Wang Y, Gong Z, Qiu W. et al. Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions. BMC Med Genomics. 2018; 11:49. doi: 10.1186/s12920-018-0368-4.

Salfati EL, Spencer EG, Topol SE, Muse ED, Rueda M, Lucas JR, et al. Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases. Genome Med. 2019; 11:83. doi: 10.1186/s13073-019-0702-2.

Daud D, Griffin H, Douroudis K, Kleinle S, Eglon G, Pyle A. et al. Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering. J. Neurol. 2015; 262:1673-7. doi:10.1007/s00415-015-7755-y.

Ross LF, Saal HM, Anderson RR, David KL. Ethical and policy issues in genetic testing and screening of children. Pediatrics. 2013; 131:620-2. doi: 10.1542/peds.2012-3680. Epub 2013 Feb 21.

Botkin JR. Ethical issues in pediatric genetic testing and screening. Curr Opin Pediatr. 2016; 28:700-4. doi: 10.1097/MOP.0000000000000418.

Bernhardt BA, Roche MI, Perry DL, Scollon SR, Tomlinson AN, Skinner D. Experiences with obtaining informed consent for genomic sequencing. Am J Med Genet A. 2015 ;167A:2635-46. doi: 10.1002/ajmg.a.37256. Epub 2015 Jul 21.

Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, et al. Actionable, pathogenic incidental findings in 1,000 participants’ exomes. Am J Hum Genet. 2013; 93:631-40. doi: 10.1016/j.ajhg.2013.08.006. Epub 2013 Sep 19.

Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP. et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017; 19:249-55. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17.




How to Cite

Falcão-Reis, C. . (2020). Pediatric genetic testing in the genomics era. NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL, 29(4), 178–179.