Test to spot rare eye cancer in unborn babies rolled out across NHS

Babies at risk of a rare form of eye cancer will be tested in the womb in a new screening programme being rolled out across the NHS.

The test can find whether a child has retinoblastoma and is likely to identify around 50 cases each year in England.

Retinoblastoma is a rare type of eye cancer mostly found in young children under the age of five.

When the condition is detected early it can often be successfully treated and more than nine out of 10 children with it are cured. If undetected, the cancer can lead to the loss of one or both eyes, and even death.

One of the signs of retinoblastoma is an unusual, white reflection in the pupil of the eye – this can look like a cat’s eye that is reflecting light and may be visible in photographs.

The new NHS test, developed at Birmingham Women's and Children's NHS Foundation Trust, looks for genetic changes that cause retinoblastoma. The NHS said the test correctly identifies the condition in nearly 100 per cent of cases.

It is non-invasive and will be offered to pregnant women with a known family history of the disease – which is often discussed during pregnancy appointments.

Mothers will need to give a blood sample, which will be tested and analysed for mutations in a gene known as RB1. About nine in 10 children who are born with an RB1 mutation develop retinoblastoma.

Picking up the cancer this early means treatment can start on the 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 siblings.

Siani Bainbridge, 22, from County Durham, had retinoblastoma as a child and feared her infant son Oscar would also be carrying faults in his RB1 gene.

She took part in the trial of the test and discovered he had the cancer. Just a week after his birth, Oscar started cancer treatment, which involved chemotherapy and then laser therapy.

While doctors could not save the sight in one eye, he did not have his eyeball removed, and kept his sight in the other eye.

Ms Bainbridge said: “Given that the tumours were quite severe when he was born, the fact he could be treated straight away definitely affected his outcome. It was nice to know the day he was diagnosed, it was ready, set go.”

The test is one of more than 15 new tests and amendments being added to the National Genomic Test Directory, which sets out the genomic tests for disease available through the NHS Genomic Medicine Service (GMS).

Amanda Pritchard, NHS chief executive, 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 [GMS], 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.”

The GMS was launched in 2018 with the aim of harnessing advances in genomics on the NHS. The directory covers more than 3,000 rare diseases and over 200 types of cancer.

Last month the NHS revealed it had developed a test that could detect whether babies had a gene that put them at risk of permanent hearing loss. The test could save the hearing of 180 babies per year, the NHS said.

Professor Dame Sue Hill, senior responsible officer for genomics in the NHS, said it was an example of how “genomic medicine is transforming healthcare”.