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A genetic test saved a baby from unnecessary chemotherapy

Photo of Sara and Michael Bell and baby Oliver

A newborn baby boy was saved from unnecessary chemotherapy when a special blood test revealed that a suspicious cancerous lump on his leg was actually benign.

The test, called whole genome sequencing (WGS), revealed the lump to be a rare mass called a myofibroma.

Recent advances in genetic testing technology mean that these types of tests have become faster, cheaper and more accurate, making them more widely available on the NHS.

photo of baby Oliver

The lump on Oliver’s leg grew to 2.4 inches before it started to shrink.

New parents Sara and Michael Bell, from St Neots in Cambridgeshire, had spent the first eight weeks of their son Oliver’s life preparing for his chemotherapy and surgery.

They were told that he might need a feeding tube and lose his hair.

“Thoughts of all this consumed us. It changed our lives,” Sara said.

‘surprising result’

Dr. Sam Behjati of the Wellcome Sanger Institute was Oliver’s doctor at Addenbrooke’s Hospital.

He said: “When we got the WGS result it was amazing. The scientist had looked at it over the weekend and emailed me right away.

“I had been waiting for cancer. I was so relieved.

“I would have hated giving Oliver treatment unnecessarily. It feels pretty hard to give kids chemotherapy when you know they definitely need it.”

What is your genome?

  • Your genome is the information needed to build the human body and keep it healthy

  • It is written in a chemical code called DNA.

  • The genome is made up of segments of DNA called genes and other genetic material.

  • Most cancers are caused by cells with unusual changes in their genome.

sources: NHS England

The test works by “reading” the entire genetic code of the tumor and comparing it to the complete genetic code of a blood sample from Oliver.

In Oliver’s case, the very complete readout was able to detect a very small and unusual error in the lump’s genetic code.

This not only confirmed that it was not cancer, but also suggested that the lump is likely to go away over time.

It’s already winding down, but Oliver will be closely monitored.

“We would not have been able to detect this with any other test, genetic or otherwise,” says Dr. Behjati.

He says that because WGS analyzes almost every part of the genetic code, unlike other routine genetic tests that focus on specific areas, he was able to expose the subtle and unusual change in the genome of the lump.

WGS has been routinely offered, through England’s NHS Genomic Medicine Service, to all children with suspected cancer in Cambridge since last year.

Dr. Behjati estimates that something unexpected turns up in about 5% of his young patients.

He says that WGS will be central to the work of the proposed new Cambridge Children’s Hospital.

The trial is in the process of being rolled out to the rest of England.

Professor Dame Sue Hill, Chief Scientist of the NHS for England, said: “The NHS is a world leader in offering whole genome sequencing as part of routine care.

“As part of this, all children with a suspected or confirmed diagnosis of cancer can be offered whole genome sequencing across the NHS in England.

“I’ve been able to see firsthand what this has meant for Oliver and his family, which is a powerful demonstration of the power of genomics to deliver real benefits for patients and their families.”

Oliver’s father, Michael, said: “We know we are very lucky to have that result.

“It was like a miracle, a miraculous test that told us that I didn’t have cancer and that we could go back to our normal lives.”

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