Life-saving eye test developed in the West Midlands to be rolled out across England

The move means babies identified at being at risk of developing retinoblastoma can be monitored and treated sooner – increasing the chance of saving their eyesight and potentially their lives.

Symptoms of retinoblastoma are hard to detect and a diagnosis can normally only be made once the tumour has progressed and the eye can’t be saved, NHS chiefs have said.

And the new, non-invasive test, developed at the Birmingham Women's and Children's NHS Foundation Trust, can detect changes in the genes in DNA and is likely to identify around 50 infants with the condition each year.

Non-Invasive Prenatal Diagnosis (NIPD) also means parents can be informed early in pregnancy if their child is at risk. The blood sample test is taken from the mother before birth and tested and analysed for mutations, which can determine with almost 100 per cent accuracy if the baby will develop retinoblastoma.

Treatment can then start on the affected eye as soon as the baby is born, with doctors closely monitoring the other eye for any signs. The test can also predict if the disease might develop in their siblings and will be offered to families where there is a confirmed case of retinoblastoma in the family.

On top of the cutting-edge new test, Birmingham Women’s and Children’s Hospitals is also developing a non-invasive post-natal cancer test for retinoblastoma patients using eye fluid – which can also identify if a patient is at risk from other cancers later in life. It’s hoped that in the future this could be eventually done by a simple blood test.

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.

"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."

Dr Amy Gerrish, from the Birmingham Women’s and Children’s Trust, who was behind the trailblazing research, added: "The introduction of this technology of cell free DNA analysis will revolutionise the management of all aspects of retinoblastoma from early detection, selection of the best treatments, identification of family members at risk of retinoblastoma and early detection and treatment of associated adult onset cancers.

"We also believe it will help address the huge discrepancy in retinoblastoma outcome for individuals in high income and low and middle income countries which has been highlighted by the World Health Organisation (WHO)."

Stephanie Allen, consultant clinical scientist at Birmingham Women's Hospital, said: "An early diagnosis will allow clinicians to manage, monitor and prepare treatments much earlier which can transform the prognosis for the baby.

"It will also give the family certainty and allow them to prepare for the birth knowing the support the clinical team will give them."

The NIPD is one of more than 15 new tests and amendments being added to the National Genomic Test Directory (NGTD), which outlines the genomic tests available via the NHS in England through the NHS Genomic Medicine Service (GMS).

The directory, which is the only one of its kind, covers more than 3000 rare diseases and over 200 types of cancer. Among the other additions to the directory are tests for gene mutations that cause forms of breast and endometrial cancer, acute myeloid leukemia and several rare diseases. A genetic test for a particular type of advanced lung cancer has had a matching treatment recently approved by The National Institute for Health and Care Excellence (NICE) meaning more effective treatment for patients.

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.”