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Frontiers in Pediatric Genomic Medicine 2021

For a second year running, the annual ‘Frontiers in Pediatric Genomic Medicine’ conference has gone virtual – bringing together the latest research and innovations in paediatric genomic medicine.

The ongoing advancements in genomics have the potential to revolutionise healthcare. One area where this is particularly relevant is within paediatric medicine. Rapid whole genome sequencing, in particular, has been shown to be a feasible and effective method for the timely diagnosis of genetic diseases present at birth. Identifying the genetic aetiology of presentations at birth can enable tailored management of care.

Here, we present just a few of the talks and discussions from the Frontiers in Pediatric Genomic Medicine conference, demonstrating the ongoing integration of genomic tools into clinical care.

The impact of genomic medicine

The event kicked off with a fireside chat with Stephen F. Kingsmore (President/CEO of Rady Children’s Institute for Genomic Medicine) and Eric Topol (Founder and Director of the Scripps Research Translational Institute) about how rapid precision medicine can transform patient lives.

The present

Kingsmore and Topol explored how the pandemic has not only increased awareness of genomics amongst the general population but has also opened the doors to a new era of medicine. For example, medicine has typically been local, but now the adoption of Telemedicine and digital tools has upended this system and enabled people to access healthcare and support from across the world. In addition, the pandemic has also shown the value of mRNA and how this can be harnessed for not just vaccines, but also in treating cancer and other autoimmune and neurodegenerative diseases. Topol emphasised that this platform has created a “new biotech dimension.”

When asked about the biggest achievement to come out of whole genome sequencing in the last 12 months, Kingsmore noted that there has been a mass of evidence supporting the cost effectiveness and impact on outcomes from using this technology in critically ill children and neonates. Rady is just one of the places across the world offering whole genome sequencing for children in intensive care with life-threatening conditions. The aim of this work is to make genetic screening faster, easier and a part of routine care.

The future

Kingsmore noted that in the future our discussions of the diagnostic odyssey will have largely receded, and the next stage will be looking at innovative genetic treatments. He expressed that the diagnostic odyssey has uncloaked a new bottleneck – the therapeutic odyssey – which will involve acting on a genomic report. Kingsmore also discussed the $100 genome and believes that no matter where you are in the world this concept is within sight. Topol also looked to the future and discussed how he believes that whole genome sequencing will become part of routine care. He specifically noted its use within molecular autopsy, whereby those with unexplained sudden deaths will receive WGS to help inform families – the opposite spectrum to the work done at Rady.

Genomic therapies

There was also a talk from Joseph Gleeson (Director of Neuroscience Research, RCIGM) about how we can harness all this genomic data to develop new genomic therapies, in particular the use of antisense oligonucleotides. Gleeson expressed that the type of DNA mutation, rather than the type of disease or type of gene, is important to determine the approach of treatment.

He explored the benefits of antisense oligonucleotides, which can turn genes on and off in a reversible manner, in various diseases. These diseases included Batten’s disease and spinal muscular atrophy. Researchers at Rady have already been looking at the cases that they have sequenced to determine whether there are any treatable mutations using this technology. For example, one of their cases is a patient with Cockayne syndrome who has a mutation in the ERCC6 gene. There is currently no therapy for this condition; however, this individual’s mutation is gain-of-splice, which is amenable to antisense oligonucleotides. 

The ongoing research and emerging innovations across genomics are becoming critical in patient care – with efforts in neonates and children certainly leading the way!

Read more here about global efforts harnessing WGS to inform precision medicine in critically ill children:

Image credit: By herjua – canva

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Infant / Rare Diseases / WGS