Sara Bell, a primary school teacher from St Neots, Cambridgeshire, was just three days away from giving birth to her first child when she received devastating news. During a routine scan, it was discovered that her unborn baby had a concerning growth on his leg. The sonographer’s words and the fear of the worst possible outcome consumed Sara’s mind. The healthy future she had imagined for her child was suddenly overshadowed by the possibility of cancer.
The ultrasound showed a large tumor measuring 6cm on the baby’s right thigh. Doctors decided to delay further testing until after the baby’s birth. Sara and her partner Michael, who had already come to terms with the likelihood of cancer, mentally prepared themselves for the battles ahead. They were informed that their newborn, Oliver, would require chemotherapy to shrink the tumor, which would later be surgically removed.
However, just as they were bracing themselves for the difficult road ahead, Dr. Sam Behjati, a consultant pediatric oncologist at Addenbrooke’s Hospital, offered one more blood test – whole genome sequencing. This advanced testing, which maps the entire genetic code of a patient, revealed a surprising result: the tumor was not cancerous after all.
Whole genome sequencing is a revolutionary technology that allows medical experts to identify tiny genetic mutations that can lead to cancer and other life-threatening diseases. Previously, this test was primarily used for research purposes, but it has now become routinely available in hospitals across England for pediatric cancer cases. In Oliver’s case, a small biopsy was taken from the tumor and compared to his blood cells’ DNA. The results confirmed that there was no trace of cancer in Oliver’s body.
Dr. Behjati explains the power of whole genome sequencing in diagnosing difficult cases: it can identify genetic errors in tumors that may not be apparent under a microscope or through standard molecular tests. In Oliver’s case, the sequencing revealed a specific mutation that changed the diagnosis from cancer to a benign tumor called myofibroma. This revised diagnosis allowed the medical team to alter their treatment plan and monitor the tumor’s progress without invasive interventions. The tumor has since begun to shrink on its own, without any treatment.
Sara vividly remembers the day she received the test results, a day that brought tremendous relief and joy. She tearfully shared the news with her father, who had been prepared for the worst. The fact that Oliver was healthy and didn’t require any treatment was a moment of immense gratitude and happiness.
The success of whole genome sequencing in Oliver’s case has paved the way for its potential use in the newborn screening program in England. The Newborn Genomes Program aims to test 100,000 newborns over two years to identify specific genetic conditions that can be treated. This ambitious program will extend the current heel-prick test, checking for inherited diseases, to include a comprehensive analysis of all 20,000 genes in a baby’s body. By detecting treatable genetic conditions early, clinicians can provide targeted interventions that can be life-saving or life-changing.
The program also offers families the choice to contribute their children’s data to a research database, allowing scientists to learn more about genetic conditions and develop new treatments. The anonymized database, likened to a “lending library” for researchers, has already proven invaluable in advancing medical knowledge and transforming patient care.
The story of Baby Oliver and the impact of whole genome sequencing showcase the incredible potential of modern medical advancements. The ability to decode the human genetic code and identify genetic mutations has opened doors to more accurate diagnoses and personalized treatments. With initiatives like the Newborn Genomes Program, there is hope for better health outcomes for future generations.
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