Rapid Whole Genome Sequencing: It Is Feasible! When Can We Implement It?

Affiliations

Comment

Charuta Joshi. Epilepsy Curr. 2024.

. 2024 Mar 25;24(3):171-173.

doi: 10.1177/15357597241237349. eCollection 2024 May-Jun.

¹ Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center Dallas, UTSW.

No abstract available

Conflict of interest statement

The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A. D'Gama AM, et al. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. Lancet Neurol. 2023. PMID: 37596007 Free PMC article.

1. D'Gama AM, Mulhern S, Sheidley BR, et al. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. Lancet Neurol. 2023;22(9):812–825. doi:10.1016/S1474-4422(23)00246-6 - PubMed
1. Sheidley BR, Malinowski J, Bergner AL, et al. Genetic testing for the epilepsies: a systematic review. Epilepsia. 2022;63(2):375–387. - PubMed
1. Smith L, Malinowski J, Ceulemans S, et al. Genetic testing and counseling for the unexplained epilepsies: an evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns. 2023;32(2):266–280. - PubMed
1. D’Gama AM, Agrawal PB. Genomic medicine in neonatal care: progress and challenges. Eur J Hum Genet. 2023;31(12):1357–1363. - PMC - PubMed
1. Diaby V, Babcock A, Huang Y, et al. Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States. Pharmacogenomics J. 2022;22(4):223–229. - PubMed