When one-month-old Scout Bradstreet was diagnosed with a brain tumor, her world was turned upside down. The hospital became her second home, a place where she spent more time than anywhere else. "She was always so sick," her mother Edwina told The Sydney Morning Herald. "We’d be home for three days if we were lucky, and then we’d be back in the hospital for two weeks."

After surgeons removed the tumor, Scout endured months of chemotherapy. Yet, despite seven months of treatment, her tumor showed little improvement, and her tiny body grew weaker with each passing day.  

The outlook seemed bleak—until her doctors introduced Whole Genome Sequencing (WGS). This advanced genomic analysis uncovered a critical detail: Scout’s tumor was linked to a gene mutation known as an ALK fusion.

With the genetic culprit identified, doctors were able to prescribe a targeted therapy—alectinib—that specifically addressed the ALK mutation. The treatment was almost immediate. Today, a simple dose of alectinib, mixed with her apple juice twice a day, keeps the cancer at bay.

Global Challenge Among Children

Childhood cancer is the leading cause of death by disease among children globally. Each year, approximately 400,000 children are diagnosed with cancer worldwide, according to the WHO. Thanks to the advancements in whole genome sequencing (WGS), genomics testing, such as BGI Genomics WGS, brings new hope to families affected by childhood cancer.

Clinical WGS uses next-generation sequencing (NGS) technology to provide a comprehensive view of a child’s genetic makeup, identifying rare or novel mutations that might be missed by other methods. This allows doctors to tailor treatments more precisely to the patient's needs.

What Makes Childhood Cancer Different?

Childhood cancers differ significantly from adult cancers, both in type and behavior. For instance, leukemia, especially acute lymphoblastic leukemia (ALL), is the most common in children, while brain and spinal cord tumors, lymphomas, and cancers of the kidneys and bones are also prevalent. These cancers often arise from genetic mutations different from those found in adults, necessitating unique treatment approaches.

The cancer death rate for children and teens under 20 dropped by over 50%, from 5.1 to 2.2 per 100,000, between 1975 and 2022. As more children survive cancer, there is a growing focus on finding safer, more effective treatments that minimize long-term impacts. Childhood cancer therapies must balance the need to eliminate cancer cells while protecting developing bodies and organs.

The Power of Whole Genome Sequencing

WGS is transforming pediatric cancer care by offering a detailed genetic map of each child’s cancer, leading to more precise treatments. For children with high-risk or relapsed cancers, WGS can uncover options that were previously unseen.

A recent study published in Nature Medicine highlights the transformative impact of WGS. The study found that WGS changed clinical management in 7% of cases and provided additional disease-related findings in 29% of cases beyond standard testing. For instance, WGS identified a breast cancer susceptibility variant in a young girl with neuroblastoma, leading doctors to adjust her radiation treatment to avoid breast cancer exposure.

Countries like England, Australia, and Sweden are already incorporating WGS into national cancer care programs, helping more children access this cutting-edge technology and easing the financial burden on families.

Scout’s story is one of hope, made possible by the precision of WGS. Once doctors understood the genetic cause of her cancer, they were able to prescribe a treatment that changed her life. Today, Scout is a healthy and thriving child, free from the long hospital stays that once defined her early months of life. “If you looked at her today, you wouldn’t know there was anything going on,” her father, Sean, shared.

About 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.

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