Turning genomic data into clinical impact

When Filippa was seven years old, her family received devastating news: she had a brain tumor. However, alongside fear came hope powered by a shift in how healthcare systems use genomic data. That shift is the foundation of BrainChild, a pioneering initiative working to bring the promise of precision medicine into everyday clinical care.

The BrainChild project, supported by Genomic Medicine Sweden (GMS), aims to bridge research and clinical practices. Per Sikora, who leads the infrastructure efforts at GMS, helps ensure the technology meets the clinical demands.

"Sweden has a unique opportunity," says Sikora. "We're a relatively small country with a long tradition of quality registries and structured healthcare. If we can get the data foundations right, we can become world leaders in using genomics for diagnostics and treatment."

From Bench to Bedside

For many years, research into genomics and cancer has achieved rapid advances, but integrating those insights into clinical care has been slow. One of the biggest hurdles is data.

"In Sweden today, we do whole-genome sequencing for all children diagnosed with cancer," says Sikora. "That's incredibly valuable, but most of that data is used once for a single patient and then effectively discarded. We don't yet make use of the full potential of that information."

To change that, BrainChild is building an infrastructure that enables large-scale, secure use of genomic and clinical data while maintaining the highest levels of patient privacy. This includes integrating data from sequencing labs with pathology, radiology, and electronic medical records to form a cohesive, structured framework.

"We're working to build a system where physicians can have a clear, clinically relevant overview," Sikora explains. "Not just raw data or siloed reports, but insights that support decisions in real time."

The Human Perspective

Filippa's case provides a powerful example of what this could mean in practice. After sequencing revealed a BRAF V600E mutation-a known driver in some tumors-doctors were able to offer her a targeted therapy instead of traditional chemotherapy. The treatment dramatically reduced the size of the tumor while sparing her many of the side effects of conventional treatment.

"Before, we used to treat these types of tumors with cytostatic drugs, often with poor results," says Dr. Magnus Sabel, pediatric oncologist at Sahlgrenska University Hospital. "Thanks to genomic analysis, we found a targetable mutation and could offer Filippa precision medicine. She avoided many side effects and responded well; her tumor is now 20% of its original size."

The success of cases like Filippa's illustrates the potential of genomic medicine, but it also highlights how far there is to go.

"This is just one example," says Sikora. "If we could analyze these kinds of outcomes across hundreds or thousands of cases, we'd be able to identify which treatments work best, for whom, and why. However, for that, we need to be able to access and structure the data."

Building Trust

One of the core principles behind BrainChild is responsible data sharing. "We need to protect patient privacy while enabling data-driven insights," Sikora says. "That's why we're working closely with clinicians, researchers, ethicists, and patient organizations to ensure the system we build has trust at its core."

And time is of the essence.

"We have the technology, the scientific knowledge, and the will, but the clock is ticking. Children are being diagnosed today, and every delay is a missed opportunity to help them."

Filippa's journey offers a glimpse into what's possible. The goal now is to ensure her story becomes the norm, not the exception.