Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

The importance of WES and WGS genetic testing is becoming more widely known as research on its benefits as first-line testing for infants suspected to have rare diseases continues to be published.
Results of a randomized clinical study, “Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease,” have recently been published in JAMA Pediatrics. The study was conducted to examine the clinical management of 354 infants who were randomized to receive WGS either 15 days or 60 days after enrollment. Results showed that twice as many infants received a COM (change of management) and a molecular diagnosis in the early 15-day group than in the delayed 60-day group. This trial was able to demonstrate the association between first-line WGS and improved clinical management.

아픈 신생아를 대상으로 신속하게 WES또는 WGS 검사를 하는 경우 기대할 수 있는 다양한 효과가 연구를 통해 발표 되면서 그 중요성이 널리 알려지고 있습니다.

JAMA Pediatrics에서 발표된 “Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease”라는 제목의 Randomized Clinical Trial 결과를 공유 드립니다. 이 연구는 유전 질환이 의심되는, 354명의 영아를 대상으로 진행 되었습니다. 두 그룹으로 나누어 임상 WGS 검사를 15일 이내 또는 60일 이후 받은 경우에 clinical management를 각각 비교 했습니다. 그 결과 15일 이내 WGS 검사를 받은 경우 60일 이후 검사 받은 경우보다 COM(change of management)과 진단율이 모두 2배 높았습니다. 이번 연구를 통해 다시 한번 first-line WGS 검사의 임상적 유용성이 검증 되었습니다.

연구와 관련된 상세 내용은 아래 링크에서 확인 하실 수 있습니다.

Original Article: Genomeweb. Sick Infants Profiled With WGS See Better Diagnosis, More Care Changes

Original Research Article: The NICUSeq Study Group. Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial. JAMA Pediatr. (12):1218–1226 (2021)