The Journal of the National Cancer Institute publishes two research papers funded by The Eve Appeal into screening for the BRCA gene mutation which could have an impact on how genetic testing in healthcare is delivered in the future.
The Genetic Cancer Prediction through Population Screening study (GCaPPS) at UCL looked into population based screening versus the current method which is based on family history in the Ashkenazi Jewish population who are known to have a higher proportion of people carrying a faulty BRCA gene (1 in 40 compared to about 1 in 800). Its findings were significant – more than half the people carrying the faulty gene identified through population screening (56%) would not have been identified through family history based screening.
Another important aspect of this project was to assess the impact on an individual’s psychological health and quality of life and whether it is cost effective. This research showed no difference on an individual’s well-being between the two screening methods and the potential to save the NHS £3.7 million.
Athena Lamnisos, CEO, The Eve Appeal, says: “This study shows that broadening genetic testing beyond just family history can save both lives and money. As genetic testing becomes increasingly affordable and acceptable, researching and investing in new screening models should become a priority for the NHS.”
Carolyn and her sister Mel took part in the GCaPPS study when it was brought to their attention by a friend. They lost their mother to breast cancer when she was only 44, but they didn’t meet the criteria for genetic testing. The study confirmed that Carolyn was carrying the BRCA2 gene mutation and she opted for surgical risk management. She describes this decision as a ‘no brainer’ as she has two beautiful young children and did not want to take any chances. Carolyn underwent an oophorectomy (removal of both ovaries) followed by a double mastectomy and reconstruction in January 2012. She has recovered well from surgery and insists that without GCaPPS she would have felt like a walking time bomb.
Dr Ranjit Manchanda, who co-ordinated the trial, says: “That this approach does not cause short-term psychological harm or impact quality of life on a population basis compared to the traditional approach of family history based testing is reassuring. This can facilitate a change we may see in future screening.”
We would like thank all those who helped with the trial including Agudas Israel Housing Association Ltd, Boots UK Ltd, Jewish Care, Lane End Medical Group, Liberal Judaism, Norwood, The Movement for Reform Judaism, the academic study group on Israel and Middle East, and a number of individuals.