Scientists urge entire UK Jewish community to be tested for gene mutations that make cancer more likely

'This is the area of research that can help save the most lives for the women of today and the future'


Scientists are calling for the entire UK Jewish population to be tested for specific gene mutations that make certain types of cancer more likely.

In a report published this week, researchers suggested that testing for inherited mutations in BRCA genes — which normally produce proteins that block tumours — across the whole Ashkenazi-Jewish community could lead to the identification of 150 per cent more carriers of the mutations than in current family-history based approach.

As part of the study, which was carried out by The Eve Appeal, a gynaecological cancer research charity, scientists discovered that 60 per cent of the people found to have the BRCA gene mutation through population testing would not have qualified for standard family-based testing.

Currently in the UK, to receive BRCA genetic counselling on the NHS you must have either a parent, sibling or child to have been diagnosed with a BRCA-related cancer.

This policy requires the development of cancer to appear in a family before any relatives can be tested for BRCA mutations.

Only individuals with a one in 10 chance of carrying a BRCA mutation can currently access testing. But the majority of people with BRCA mutations fall below this threshold.

The ‘Genetic Cancer Prediction through Population Screening’ study, led by Dr Ranjit Manchanda at Barts Cancer Institute, Queen Mary University of London, compared population and clinical criteria to family history-based approaches to BRCA testing.

Dr Ranjit Manchanda, consultant gynaecological oncologist at Barts Health NHS Trust, said: “The current NHS system is set up to prioritise diagnosis and treatment, and is not utilising the full potential of newer technologies for cancer prevention.”

BRCA mutation carriers have an increased risk of ovarian, breast, pancreatic and prostate cancers, and one in 40 Jews carry the mutation compared to one in 800 in the general population.

Dr Manchanda said: “Our findings support introduction of genetic testing for breast and ovarian cancer genes across the entire Jewish population, beyond just the current criteria-based approach. This new model of population genetic testing could in the future potentially be expanded to other populations for cancer predisposing inherited genetic changes and even other diseases.”

Researchers said that population-wide testing would “enable many more people from this higher risk group to opt for the opportunity to be informed of their cancer risk so that they can make empowered decisions to manage their health and cancer risk.”

The study found that population-wide BRCA tested individuals had lower levels of feelings of anxiety and depression in the long term than those who were tested based on their family history alone.

Caroline Presho, 41, underwent a preventative double mastectomy when she was 36 after testing positive for a BRCA gene mutation three years earlier.

Ms Presho’s family is of Ashkenazi Jewish descent but she did not meet the family history criteria to have genetic testing.

She said: “The current NICE guidelines meant initially I wasn’t eligible for BRCA testing, even with my Ashkenazi Jewish ancestry.

"Subsequent access to BRCA testing empowered me to make informed decisions about my personal health. This type of proactive healthcare not only saves lives, but will also save the NHS considerable amounts of money.”

Testing for the BRCA gene mutations enables women like Ms Presho to take measures to reduce their risk of cancer, either by increased screening or preventative surgery. Medication can also reduce the risk of certain types of breast cancer.

Dr Manchanda, the GCaPPS team and The Eve Appeal are calling for the policy to be changed for the Jewish community and for the first population-wide genetic testing to be made available on the NHS.

Athena Lamnisos, chief executive of The Eve Appeal, said: “As we know this is the area of research that can help save the most lives for the women of today and the future.

“Dr Manchanda’s research has shown just how many people from a community who we know to be at higher risk of carrying BRCA mutations and where we can prevent this, may be missing out on testing under current policy.”

The findings and recommendations made by Dr Manchanda for population-based BRCA testing has received support from the NHS Innovation Accelerator initiative.

Anthony Angel, chair of Jnetics, a charity that works on improving the prevention and management of Jewish genetic disorders in the UK, said: “Jnetics talks regularly to leading experts on this issue in Israel, the US, Canada and Australia, and indeed with Dr Manchanda, to ensure we understand the growing evidence of the benefits of population-based screening, along with the need to meet the challenges of this approach.

“We support, and work to ensure, the availability of testing to all those in the community for whom it is recommended by the medical profession and, as medical recommendations change, we will work to ensure that the availability of testing changes accordingly to reflect best practice.”

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