Boston Children's expands sequencing of patients with epilepsy, IBD

Dive Brief:

Boston Children’s Hospital is set to sequence the DNA of 3,000 people to better understand epilepsy and inflammatory bowel disease (IBD).
The initiative aims to generate insights into disease pathways and find novel drug targets, while also improving the care of the sequenced patients.
Boston Children’s is working with GeneDx and WuXi NextCODE to sequence the DNA and interpret the resulting data.

Dive Insight:

Understanding of the genetic drivers of epilepsy and IBD has advanced apace over the past decade. Through genetic sequencing initiatives, researchers have linked mutations in the protein coding gene ADCY7 to IBD, identified PRRT2 as a factor in the benign familial infantile form of epilepsy and made many other discoveries.

These advances have started to influence patient care. Yet, knowledge of disease pathways remains incomplete and the translation of scientific advances into breakthrough treatments is just starting to gather pace. To take epilepsy as an example, more research into the mechanistic links between genes and seizures is needed, as are efforts to classify variants and translate findings into clinical care.

Boston Children’s wants to contribute to these efforts. Having set up an epilepsy genetics program at the start of the decade, Boston Children’s is now expanding the initiative to accelerate the pace of scientific progress and step up its interest in IBD.

The pediatric hospital already performs genetic tests, such as chromosomal arrays and gene panels, on patients who are suffering from seizures. In some cases, these efforts fail to yield a diagnosis. The expanded sequencing initiative is focused on this subset of patients. With the initial screening effort failing to make a diagnosis, Boston Children’s will perform a broader analysis of the patient’s DNA.

Boston Children’s has two ambitions for the program. The main goal is to improve understanding of the genetic causes of epilepsy and IBD and identify possible ways to improve treatment. However, as the work will take place at a CLIA-certified lab, the results will also inform the care of the patient who undergoes sequencing.

The initiative will leverage Boston Children’s ties to industry and existing genomics infrastructure. The hospital has operated a genomics platform built on WuXi NextCODE's technology since 2016, and will use the service provider’s tools to interpret variants and perform other analyses in its latest initiative. Long-running genetic testing company GeneDx will perform the sequencing.