Ellie Sullivan, a 38-year-old mother of four, has launched a campaign called Test Us Too, urging for broader access to genetic testing for inherited cancer mutations. Her advocacy follows a decade of being denied genetic testing for a suspected breast cancer gene, only to be offered it after developing an aggressive form of the disease.
Sullivan's suspicion of a genetic link to breast cancer stemmed from her mother's diagnosis at age 42. Her mother, Christine, kept her diagnosis secret for seven years before revealing it in 2013, and she died of the disease in 2015. Sullivan repeatedly asked her general practitioner for genetic testing, starting in 2013, but was consistently turned down as she did not meet the National Health Service (NHS) criteria.
Under the NHS guidelines at the time, genetic testing for women who had not developed breast cancer was generally offered only if they were estimated to have at least a 10% chance of carrying an inherited mutation linked to the disease. This assessment relied on computer algorithms evaluating family history, ages of cancer diagnosis in relatives, and ancestry. Sullivan, with one close relative diagnosed under 45 but no known mutation and unaware of further family history, did not qualify.
Despite experiencing benign lumps in 2015, 2019, and 2021, and a radiographer's concern about her mammogram's 'granular' breast tissue type in 2019, further investigation was not deemed necessary. In January of this year, Sullivan discovered a large, painful lump that had seemingly appeared overnight. A subsequent biopsy confirmed she had triple-negative breast cancer, a highly aggressive form of the disease.
It was only after this diagnosis that Sullivan qualified for NHS gene testing, which revealed she carried a mutation in the PALB2 gene. Mutations in PALB2 are thought to be carried by approximately one in 1,000 Britons and significantly increase a woman's lifetime risk of breast cancer to an estimated 50-60%, compared to 14% in the general population. This gene also carries a small increased risk of ovarian and pancreatic cancer.
Professor Gareth Evans, an emeritus professor of medical genetics at the University of Manchester, noted that PALB2 testing was not part of routine NHS checks in 2013, which primarily looked for BRCA1 and BRCA2 mutations. The PALB2 test was added to enhanced NHS screenings in 2021, alongside tests for six other genes linked to breast cancer.
Sullivan expressed that if she had been tested and the mutation identified in 2021, she would still have had the opportunity to opt for a risk-reducing double mastectomy. She believes that individuals with a parent diagnosed under age 45 with mutation-linked cancers, especially if that parent is deceased or unavailable for testing, should automatically be offered genetic testing. She argues this approach could prevent cases like hers and potentially save the NHS money in the long run.
Professor Ranjit Manchanda, a professor of gynaecological oncology at Queen Mary University of London, advocates for even broader genetic testing, suggesting all women should be offered it from age 18, irrespective of family history. His research indicates that current NHS thresholds miss a significant number of gene carriers, with over 95% of carriers in the UK remaining unidentified. He also proposes that testing all women diagnosed with breast cancer could help prevent future ovarian cancers and prove cost-effective.
While advances in technology are being explored to streamline genetic testing processes, including digital platforms and at-home saliva tests, the capacity of NHS genetics services to handle a significant increase in testing remains a consideration. New guidance from the National Institute for Health and Care Excellence (NICE) on familial breast cancer, which includes re-examining eligibility thresholds and expanding gene panels, is expected next year.
Sullivan is currently undergoing intensive chemotherapy and immunotherapy, facing side effects including severe fatigue, sickness, and swelling. She has also been hospitalized with an infection and blood clots. Following chemotherapy, she will undergo radiotherapy and a double mastectomy. Her treatment has forced her to abandon plans for a second salon, impacting her career.
Professor Evans also emphasized that inherited mutations are only one factor in cancer risk, with lifestyle factors and general chance also playing significant roles. However, for younger women with triple-negative breast cancer, inherited genetic faults are more likely to be a contributing factor. Sullivan hopes her campaign will help others avoid a similar fate, stating, "I can't change my own diagnosis, but I hope I can change the future for other people."