BSH 2024 | Genomic sequencing as a driver of advancements in pediatric hematology

So, there’s a tremendous advance in pediatric hematology in terms of our understanding of genetic predispositions to myeloid leukemia. And I think the biggest advance that has happened is genomic sequencing. With genomic sequencing, our awareness of children with these disorders has exploded, and we now have a better understanding of the genetic and clonal architecture of leukemogenesis. What we do need is for clinicians to engage and to ensure that there’s equity of access for patients and families to all the genomic sequencing technologies that exist: whole genome, whole exome, targeted panels, etc.. And I can see that the more we engage with genetic sequencing, the more we understand about these disorders, and we would be able to get a better understanding of these cohorts of patients, design better treatments, and probably prevent the leukemias from occurring. For many of these families, sadly, when you receive a diagnosis, you’re giving them really life-changing news that there is a risk of progression to leukemia. And I think if we don’t know how many of these patients are out there, it’s really hard to then go to the next step, which is can we devise treatments to prevent the leukemias from occurring? So that, I suspect, is probably the biggest advance in pediatric hematology.