Identifying Disease Risk Through Newborn Genomic Sequencing

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Dr. Shah and Ms. Genetti will discuss their paper, Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. The presentation will focus on the 3-5 year medical outcomes and actionability of unanticipated monogenic risks identified in newborns and their family members as part of a randomized controlled trial of newborn genomic sequencing.

Overview of Presentation

  • From a randomized controlled clinical trial of comprehensive exome sequencing in 127 apparently healthy infants and 32 infants in intensive care, 17 infants (10.7%) were identified with unanticipated monogenic disease risks (uMDRs).  
  • All 17 uMDR findings were scored as moderately or highly actionable (mean 9, range: 7–11 on a 0–12 scale) and several distinctive visual patterns emerged on the radar plots.  
  • The uMDRs revealed unsuspected genetic etiologies for existing phenotypes, as well as provided risk stratification for future medical surveillance. They also prompted screening for at-risk family members, three of whom underwent cancer-risk-reducing surgeries. 
  • These findings suggest that large-scale comprehensive sequencing of newborns will reveal numerous actionable uMDRs and precipitate substantial, and in some cases lifesaving, downstream medical care in newborns and their family members. 

Nidhi Shah, MD, FACMG

Clinical Geneticist & Assistant Director of Center for Clinical Genomics and Advanced Technology (CGAT) in the Department of Pathology

Dartmouth Health

Dr. Shah is a Clinical Geneticist at Dartmouth Health Children’s, as well as the Assistant Director of Center for Clinical Genomics and Advanced Technology (CGAT) in the Department of Pathology at Dartmouth Health. She completed her Pediatrics residency at Nassau University Medical Center in Long Island, NY, followed by Clinical Genetics fellowship at Boston Children’s Hospital/ Harvard Medical School Genetics Training Program. Her research interests focus on bioinformatics pipeline development for germline analysis of exomes and genomes, as well as implementation of precision medicine in primary care through the lifetime. She is an integral part of the NIH funded Babyseq project, the first-of-its-kind randomized clinical trial designed to examine the medical, social, and economic impacts of integrating genomic sequencing into the clinical care of newborns. 

Casie Genetti, MS, CGC

Senior Genetic Counselor

Boston Children's Hospital

Casie Genetti, MS, CGC is a senior genetic counselor and project manager at Boston Children’s Hospital. She obtained her undergraduate degree from Davidson College and received her Master of Science in Genetic Counseling from Boston University Medical School in 2015.  Casie works with The Manton Center for Orphan Disease Research, The Beggs Congenital Myopathy Research Program, and The BabySeq Program at Boston Children’s Hospital focusing on rare disease diagnosis and the implementation of genomic sequencing in infancy. 

Sara Cullinan, PhD (Moderator)

Deputy Editor

American Journal of Human Genetics


August Journal Club
08/09/2023 at 12:00 PM (EDT)  |  Recorded On: 08/09/2023  |  30 minutes
08/09/2023 at 12:00 PM (EDT)  |  Recorded On: 08/09/2023  |  30 minutes August AJHG Journal Club