A Recap of Frontiers in Pediatric Genomic Medicine Conference
Rady Children’s Institute for Genomic Medicine’s (RCIGM) Frontiers in Pediatric Genomic Medicine Conference took place last week on the scenic shores of La Jolla, California. The third annual conference brought together innovators from children’s hospitals and genetics labs around the world who are making big strides in the field of pediatric genomics.
The meeting began each day with a poignant patient story. Parents held their infant on stage while sharing the story of the very emotionally-trying start to their baby’s life. In all cases these babies were admitted to Rady’s NICU at less than one week old with unexplainable medical conditions linked to the nervous system. With no immediate diagnosis, the newborns’ bodies rapidly were shutting down, and in each case, the parents were told they would likely lose their baby.
With the parents consent, the newborns underwent rapid whole-genome sequencing (rWGS) to try and determine the cause of their symptoms. Leveraging Rady’s rWGS pipeline results were turned around in about a day. In each case, rWGS enabled the team at Rady’s to successfully identify a rare but treatable genetic disorder so the newborn could undergo targeted therapy to dramatically alter the course of the disease. The babies were able to be taken home from the NICU shortly after diagnosis, and are healthy and happy today.
Multiple technology partners power RCIGM’s workflow to deliver this rapid and life-changing diagnosis. The institute uses Illumina NovaSeq for 40x sequencing, followed by rapid alignment and variant calling with Edico Genome’s DRAGEN pipeline. Copy number variation (CNV) analysis is performed on DNAnexus and combined with the file from DRAGEN. The combined VCF is then uploaded to Fabric Genomics for interpretation and reporting. Together with their partners, RCIGM has reduced the WGS turnaround time from a few weeks to under 36 hours.
Throughout the conference, other organizations shared their success stories of whole genome or exome sequencing for rapid diagnosis in newborns. Speakers also made a financial case for performing genomic sequencing on newborns, demonstrating that healthcare costs saved by a reduced length of hospitalization and ongoing care add up to more than the investment for sequencing. It is possible to save lives without increasing costs, a win-win for everyone.
Hearing case study after case study of successful and rapid diagnosis with genomic sequencing in newborns drove home the message that the medical community is seeing concrete value in investing in rWGS. Further, as sequencing and bioinformatics technology continues to improve, physicians will have earlier access to genomic information to inform treatment decisions. As rWGS continues to gain momentum, genomic testing can become more universally available so newborns and their families can get the right diagnosis and the right treatment in time.