Ellie Sullivan, 38, spent over a decade seeking genetic testing for a hereditary breast cancer gene after her mother died of the disease at age 42. Despite repeated requests to her GP, Sullivan was denied testing as she did not meet the National Health Service (NHS) criteria. Thirteen years after her mother's diagnosis, Sullivan was diagnosed with an aggressive form of triple-negative breast cancer in January of this year. It was only then that she was offered genetic testing.
Sullivan's experience highlights a broader debate about accessibility to genetic screening for hereditary cancer predispositions. Under current NHS guidelines, individuals are generally offered genetic testing if they are estimated to have at least a 10% chance of carrying an inherited mutation linked to breast cancer. This assessment relies on algorithms factoring in family history, age of diagnosis, and ancestry. For instance, individuals over 18 with at least one grandparent of Ashkenazi Jewish heritage are eligible due to a higher prevalence of BRCA gene mutations in that population.
Sullivan did not qualify under these criteria, despite having one close relative diagnosed under 45. Her anxiety was heightened by discovering benign lumps in 2015, 2019, and 2021. A radiographer in 2019 noted concerns about her breast tissue type, suggesting yearly MRIs, but this was reportedly overruled by a senior clinician.
Her cancer, diagnosed in January, was grade 3 and stage 2, and a PALB2 gene mutation was subsequently identified. This mutation, estimated to be carried by about one in 1,000 Britons, significantly increases lifetime breast cancer risk, estimated at 50-60% compared to 14% in the general population. The PALB2 test was not part of routine NHS checks in 2013, which focused on BRCA1 and BRCA2 mutations. It was added to enhanced NHS screenings only in 2021.
Sullivan states that if she had been tested in 2021 and the mutation discovered, she would have opted for a preventative double mastectomy. Her experience has prompted her to launch a campaign called Test Us Too, advocating for wider access to genetic testing. She argues that individuals with a parent diagnosed under 45 with mutation-linked cancers, who is deceased or unavailable for testing, should automatically be offered a genetic test.
Experts, including Professor Gareth Evans, an emeritus professor of medical genetics at the University of Manchester, acknowledge that NHS testing criteria have expanded, now including individuals with a lower calculated risk. However, others, like Professor Ranjit Manchanda from Queen Mary University of London, propose more significant changes. Manchanda believes all women should be offered genetic testing from age 18, regardless of family history, arguing that diagnosing carriers after a cancer diagnosis represents a failure in prevention. His research suggests that current NHS thresholds miss a substantial number of mutation carriers.
Studies led by Manchanda indicate that widespread BRCA gene variant testing in the UK could prevent tens of thousands of breast and ovarian cancer cases and deaths. He also suggests that testing every woman diagnosed with breast cancer could be cost-effective for the NHS by identifying those at risk of developing ovarian cancer.
Challenges remain regarding the capacity of NHS genetics services to handle broader testing, with current results taking up to ten weeks. Manchanda is developing digital systems for at-home saliva testing and online results access, potentially streamlining the process and targeting specialist counseling to those who test positive. His research also suggests that broader testing may not necessarily increase anxiety, with comparable psychological outcomes to current approaches.
Sullivan is currently undergoing chemotherapy and immunotherapy, with plans for radiotherapy and a double mastectomy. The treatment has led to significant side effects, including severe fatigue, sickness, and swelling. Her diagnosis has also impacted her career, forcing her to abandon plans for a second salon.
While inherited mutations are a factor, experts note that only 5-10% of breast cancers are linked to a single inherited gene alteration. Lifestyle factors and other causes contribute to the majority of cases. Breast Cancer Now advises individuals with family history concerns to speak with their GP. Sullivan's campaign aims to change future outcomes for others, and her petition can be found online. Support and information are also available through Breast Cancer Now and The Eve Appeal.