Rapid Genome Sequencing Helps Pinpoint Diagnosis In Ill Newborns

MedicalResearch.com Interview with: Stephen F. Kingsmore MB ChB BAO DSc FRCPath Dee Lyons/Missouri Endowed Chair in Genomic Medicine, Children’s Mercy - Kansas City MedicalResearch.com Interview with:
Stephen F. Kingsmore MB ChB BAO DSc FRCPath
Dee Lyons/Missouri Endowed Chair in Genomic Medicine,
Children’s Mercy – Kansas City

Medical Research: What is the background for this study?

Response: The background to this study is that genetic diseases are the leading cause of death in infants and, especially, in infants in neonatal intensive care units. Making a molecular (etiologic) diagnosis of the specific genetic disease is critical for optimal care and decision making for acutely ill infants who are likely to have such diseases. However there are over 5000 known genetic diseases and their presentations overlap considerably in infants. Until now it has not been possible to make timely diagnoses in these infants.

Medical Research: What are the main findings?

Response: Rapid whole genome sequencing is a new way of making a genetic disease diagnosis in acutely ill newborns in neonatal intensive care units. It appears to be effective for diagnosis.

Medical Research: What should clinicians and patients take away from your report?

Response: Rapid whole genome sequencing is a new way of making a genetic disease diagnosis in acutely ill newborns in neonatal intensive care units. It appears to be effective for diagnosis.

Medical Research: What recommendations do you have for future research as a result of this study?

Response: As a result of this study, we have recently started a new randomized, blinded, prospective study of the clinical utility of rapid whole genome sequencing in acutely ill infants in neonatal intensive care units (NSIGHT, clinical trials.gov NCT02225522) which has been funded by NIH.

Citation:

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

Laurel K Willig, Josh E Petrikin, Laurie D Smith, Carol J Saunders, Isabelle Thiffault, Neil A Miller, Sarah E Soden, Julie A Cakici, Suzanne M Herd, Greyson Twist, Aaron Noll, Mitchell Creed, Patria M Alba, Shannon L Carpenter, Mark A Clements, Ryan T Fischer, J Allyson Hays, Howard Kilbride, Ryan J McDonough, Jamie L Rosterman, Sarah L Tsai, Lee Zellmer, Emily G Farrow, Stephen F Kingsmore

Published Online April 28, 2015 http://dx.doi.org/10.1016/ S2213-2600(15)00139-3

MedicalResearch.com Interview with: Stephen F. Kingsmore MB ChB BAO DSc FRCPath (2015). Rapid Genome Sequencing Helps Pinpoint Diagnosis In Ill Newborns