Doctor examining a baby's eye

New congenital cancer test rolled out by the NHS

A potentially life-saving new test, that can detect eye cancer in babies still in the womb, is set to be rolled out by NHS England this week.

The test was developed at Birmingham Women’s and Children’s NHS Foundation Trust and allows doctors to identify babies at risk of developing retinoblastoma earlier and thus increase their chances of not only keeping their sight but survival too.

The new non-invasive technique can detect changes in the genes in DNA and is likely to identify around 50 infants with retinoblastoma each year, as the NHS continues to innovate and harness the power of genomics to diagnose and treat patients earlier and faster than ever.

The blood sample test is taken from the mother before birth and is then analysed for mutations, which then with almost 100% accuracy detects whether the baby is at risk of retinoblastoma.

The test can also predict if a sibling is likely to suffer from retinoblastoma and will be made available for families with confirmed cases of retinoblastoma already in the family.

NHS Chief Executive Amanda Pritchard said: “The introduction of this pioneering new test is fantastic news for babies and their parents and has the potential to save hundreds of lives over the coming years.”

She added: “Cancer is such a terrible illness and a baby being born with it can have a huge impact on parents and families during what should be an incredibly happy time but backed by world-class innovation and services like the NHS Genomic Medicine Service, through the Long Term Plan the NHS is developing and delivering more cutting-edge treatments like this one to help save lives and keep families together.”

Birmingham Women’s and Children’s Hospitals is also developing a non-invasive post-natal cancer test for retinoblastoma patients using eye fluid, which looks to identify if a patient is at risk from other cancers later in life.

Professor Dame Sue Hill, Chief Scientific Officer and Senior Responsible Officer for Genomics in NHS England said: “This new test is a perfect example of how the NHS Genomic Medicine Service is harnessing cutting-edge technology to deliver genomic tests for cancers like this and many other conditions through the National Genomic Test Directory – meaning more comprehensive and earlier diagnoses and more targeted treatments sooner for all our patients.”

The National Genomic Test Directory outlines all the genomic tests available on the NHS in England via the NHS Genomic Medicine Service. The directory is the first and only of its kind and covers over 3000 rare diseases including 200 types of cancer, which they say demonstrates their world leader status at harnessing the benefits of genomics.

Other recent additions to the directory are tests for gene mutations that cause forms of breast and endometrial cancer, acute myeloid leukemia and several rare diseases.

Health and Social Care Secretary Sajid Javid said: “Despite the unprecedented pressure put on the NHS because of the pandemic it is incredible to see continued life-saving innovation taking place, enhancing cancer care and diagnosis even before birth.”

He added: “Early diagnosis is vital to ensure these babies are given every opportunity to see, and the best chance of survival. New tests such as these will help clear the Covid backlog, ensuring patients are seen at the right time and provided the right care. Our 10-Year Cancer Plan will set out how we will lead Europe in cancer care, improving outcomes for patients across England.”

More information on the new test can be found here.

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