UNITED KINGDOM – National Health Service (NHS) England has unveiled a new test for infants in the womb to detect a rare form of eye cancer called retinoblastoma.
The new NHS test, developed by Birmingham Women’s and Children’s NHS Foundation Trust, identifies people who are at high risk of developing retinoblastoma.
Babies can also be monitored and treated earlier, increasing the likelihood of saving their sight and, potentially, their lives.
Symptoms of the condition are frequently difficult to detect, and a diagnosis is usually made only after the tumor has progressed, at which point the eye cannot be saved.
This new non-invasive test can detect gene changes and is expected to identify 50 infants with retinoblastoma each year.
The test looks for a mutation in the RB1 gene. About nine in 10 children who are born with an RB1 mutation develop retinoblastoma.
Non-invasive prenatal diagnosis also means that parents can find out if their child is at risk early in pregnancy.
Retinoblastoma usually affects young children. Symptoms of retinoblastoma are hard to identify, and late diagnosis can lead to the loss of the affected eye or eyes and even death.
Before the baby is born, a blood sample is taken from the mother and analyzed for mutations, which can predict with near-perfect accuracy whether the baby will develop retinoblastoma.
Vital treatment can then start on the affected eye as soon as the baby is born, while doctors can also closely monitor the other eye.
In addition, the test can predict if the disease might develop in siblings and therefore will be offered to those who have a confirmed case of retinoblastoma 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.
“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.”
Birmingham Women’s and Children’s Hospitals is also working on a non-invasive post-natal cancer test using eye fluid for retinoblastoma patients.
This procedure can also determine whether a patient is at risk of developing other cancers later in life.
The test is one of more than 15 new tests and amendments to the National Genomic Test Directory, which lists the genomic tests for disease offered by the NHS Genomic Medicine Service.The directory includes over 3,000 rare diseases and over 200 different types of cancer.
Last month, the NHS announced that Parkinson’s patients will receive smartwatches to help doctors monitor their condition remotely.
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