Harnessing the 'Angelina effect': Improving care for people with a family history of breast cancer in the UK

In May 2013, the actress Angelina Jolie wrote in the New York Times about her decision to undergo a preventative double mastectomy after finding that she carried a mutation in the BRCA1 gene, and after losing her mother to ovarian cancer. A month later, updated clinical guidance released by the National Institute for Health and Care Excellence (NICE) set out standards of care for people here in the UK who, like Angelina, are at higher risk of breast cancer because of their family history.

We have made a lot of progress towards understanding family history of breast cancer in the twenty years since the sequencing of the BRCA1 gene in 1994, and the BRCA2 gene a year later. We now know that inherited mutations in these and other genes are implicated in up to one in 20 cases of breast cancer. Families with inherited mutations in BRCA1 or BRCA2 tend to have an unusually high number of close relatives with breast or ovarian cancer, often including family members diagnosed at an unusually young age.

The risk of cancer in women in these families is high - carrying an inherited mutation in BRCA1 or BRCA2 confers a lifetime risk of breast cancer of up to 85 percent, with the risk of ovarian cancer being up to 40 percent. In addition, up to three in 20 cases of breast cancer are thought to be associated with a somewhat lower inherited risk of the disease - in these families the genetic basis for this inherited risk is usually unknown.

As a result of our increasing knowledge, women who may be at higher risk of breast cancer because of their family history can now be identified and provided with options to help them manage or reduce their risk. Yet, as we learn more, and as technologies develop, there are continuing challenges for the NHS to meet in providing the best possible care for people at risk of familial breast cancer.

Making sure these challenges are met is hugely important. Although the number of people at higher risk of breast cancer because of their family history makes up a small part of the population, the elevated level of risk means that targeting interventions at this group, to prevent breast cancer or to detect it early, can have a big impact on breast cancer incidence and mortality.

The recently updated NICE guidance makes recommendations on how people at risk of familial breast cancer should be identified, assessed, and cared for. This includes more regular breast screening, starting at a younger age, in order to detect breast cancer early so that treatment has a better chance of success, and risk-reducing options such as preventative mastectomy or risk-reducing drugs.

However, implementation of previous versions of the guideline has been variable across the country, and it remains unclear how crucial recommendations in the updated version will be delivered. Key concerns include the identification and referral of people at increased risk by GPs, the capacity of genetics centres to cope with additional demand for testing, and the provision of risk management options.

Having chaired the group which updated the NICE guideline, Breakthrough Breast Cancer is now working to ensure that the challenges and barriers described above are overcome and that the guideline is translated into action to benefit patients. We know this is not happening in all areas and are currently building a picture of how well different areas are adapting to the proposed changes, and what additional support local services need. Later this year we will be producing a report, setting out the state of family history services, determining whether the standards set out in the NICE guideline are being met across the UK, and making recommendations about what more needs to be done to ensure that people at higher risk of breast cancer because of their family history have access to the best possible care.

Identifying those at higher risk and giving them every chance to prevent breast cancer, or to detect it early and undergo successful treatment, is crucial for these women, many of whom have seen successive generations of their family devastated by breast cancer. Angelina Jolie had the care she needed to help her take control of her risk of the disease; people at increased risk of breast cancer due to their family history in the UK deserve to have access to nothing less.

The Progress Educational Trust's project 'Breast Cancer: Chances, Choices and Genetics' will launch on the evening of Thursday 3 April with a free public event in central London entitled 'Relative Risk: Breast Cancer and Genetics'.

Book your place now by emailing sstarr@progress.org.uk