WGS boost outcomes for nearly 30% of children with cancer | Childhood Cancer Awareness

Childhood cancers are often difficult to detect, with symptoms that may appear vague or misleading. Traditional diagnostic tools, such as biopsies and microscopic tests, often fall short when dealing with rare or complex tumors.

Integrating whole genome sequencing (WGS) into routine cancer care offers a pathway to closing this gap. Research has found that WGS, supported by high-throughput sequencing technology, delivers faster, more accurate diagnoses and improves childhood cancer patient outcomes by nearly 30%.

September is Childhood Cancer Awareness Month, a reminder that pediatric oncology is fundamentally different from adult oncology. Children are still undergoing vital physical and brain development, which means the effects of both disease and treatment are magnified. Without timely and precise treatment, young patients may face lifelong consequences.

A Rare and Complex Case

For Kristin Kennelly, the first signs in her son Jack seemed small. Outgoing and cheerful, Jack had suddenly become unusually tired. "We had seen the GP (general practitioner) five or six times in two weeks, but nothing was clear,” Kristin recalled. At a friend's party, Jack's exhaustion became so severe that she rushed him to the hospital.

Doctors quickly discovered a tumor in Jack's brain. It was growing aggressively in a critical area, making his movements unstable and unsteady. Yet under the microscope, the tumor defied classification—no standard test could identify its type. Without knowing what they were dealing with, the medical team could not design an effective treatment plan.

That was when Jack's case was referred for genomic testing. Using WGS, scientists discovered that his tumor was not a typical brain cancer at all, but rather a rare type that usually develops in muscle tissue. The test also revealed a mutation in the DICER1 gene, a key tumor-prevention gene that normally helps guard against both cancerous and benign tumors.

Genomics Unlocks Answers

Jack's case was a part of the Zero Childhood Cancer Program (ZERO), an Australian initiative that offers precision medicine to children diagnosed with cancer. ZERO provides comprehensive genomic analysis to guide treatment, aiming to improve survival and advance global understanding of pediatric cancers.

For Jack, WGS identified the exact genetic makeup of his tumor. He received carefully targeted chemotherapy and radiation, avoiding the need for additional surgery. Follow-up MRI scans revealed that the tumor had disappeared. In time, Jack made a full recovery.

A Global Shift in Cancer Care

Around the world, WGS is changing the way childhood cancers are diagnosed and treated. A large-scale study published in Nature Medicine reported that WGS provided critical additional information in nearly 30% of cases, helping doctors better understand tumors and shape future management strategies. In about 7% of children, WGS directly changed clinical decisions, improving care for 20 young patients in the study.

Additionally, WGS reproduced all 738 standard-of-care tests used in those cases. This suggests that one comprehensive WGS test could potentially replace the many different diagnostic tests hospitals currently rely on when it is cost-effective.

As Professor Sam Behjati of the University of Cambridge explained, "Whole genome sequencing provides the gold standard, most comprehensive and cutting-edge view of cancer. This is a powerful example of the genomic data revolution of healthcare that enables us to provide better, individualised care for children with cancer."

What was once a research-only technology is rapidly becoming an essential clinical tool. By revealing hidden mutations, identifying rare tumor types, and pointing to personalized therapies, WGS is helping doctors deliver more precise care. It also creates a shared genomic resource that researchers can use to discover new treatment targets, preventive strategies, and insights into how cancers begin.

As we observe Childhood Cancer Awareness Month this September, it's important to recognize that integrating WGS into routine care could give more children the chance to survive and thrive. For families like the Kennellys, the light of survival shines through the power of the genome.

About BGI Genomics’ Whole Genome Sequencing (WGS)

BGI Genomics’ Whole Genome Sequencing (WGS) service detects the complete genome sequence at one time and provides a high-resolution, base-by-base view of the genome. This enables researchers to see both large and small variants and identify potential causative variants for further follow-on gene expression or regulation mechanism studies.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Its services cover more than 100 countries and regions, involving more than 2,300 medical institutions and 10,000 employees worldwide. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) officially began trading on the Shenzhen Stock Exchange.