Babies identified as being at risk of developing retinoblastoma, a rare form of eye cancer, can be monitored and treated sooner thanks to a new test developed at Birmingham Women’s and Children’s NHS Foundation Trust.
Non-Invasive Prenatal Diagnosis (NIPD) 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% 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, which has been added to the NHS Genomic Medicine Service, 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.
Dr Amy Gerrish, from Birmingham Women’s and Children’s Trust , said:
“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)”.
Consultant Clinical Scientist 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).
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”.
