Women and their families are suffering from risk of cancer and denied lifesaving treatments due to NHS trusts. NHS trust have refused to test for the ‘Jolie Gene’, new report showed.
Since 2015, trusts were supposed to screen all women diagnosed with ovarian cancer for BRCA gene mutations, which were highlighted when the actress Angelina Jolie revealed she carried the variant, leading her to opt for a precautionary mastectomy and hysterectomy. But a report by Ovarian Cancer Action found nearly one in three women are not offered the test, which means they are not eligible for the most effective medication, PARP inhibitors.
It also means their family members are being left in the dark about their own risk. Up to 60 per cent of women who carry a BRCA1 mutation will develop ovarian cancer in their lifetime, compared to just two per cent of the general population, and up to 90 per cent will develop breast cancer. Jolie’s own mother died of ovarian cancer aged just 56.
If women know they have the mutation they can take preventative measures, as Jolie did, or have regular health checks. Marie-Claire Platt, Head of operations and campaigns at Ovarian Cancer Action said: “It’s very disappointing and concerning that despite guidelines women are still not being offered genetic testing. “Sadly many women aren’t even aware the test exists, so if their doctor does not send them, they won’t even know it’s available.
“It’s not just the cost to women with cancer, but also their families. Most women are only picked up in the later stages of ovarian cancer, and many women are diagnosed in A&E because the symptoms are so vague, so anything that can help pick up the disease early is beneficial.
“Lack of screening is not just a small, minor thing. Missing out on it could be fatal.”
Some NHS trusts including those in Newcastle, Manchester and Lancashire are also limiting testing to under 60s even though all under 70s should be offered screening. Around 15 per cent of cases of ovarian cancer are linked to BRCA gene mutations. In the general population up to one in 400 carry a mutation, but most have no idea they are at higher risk of cancer.
People with Dutch, Icelandic, Norwegian, Polish and Swedish origin have a much greater risk, as do Ashkenazi jews. People with the genetic variant have a 50 per cent chance of passing it onto their children. Rosie Lapsley, 67, a retired pharmacist from Baldock, Hertfordshire and her family are an example of how missed screening can ruin lives. Her mother died of breast cancer in 1960 and a maternal aunt of ovarian cancer some years later.
But despite a clear family link, neither she nor her family were tested for BRCA until last year.
“In January 2016 my younger sister was diagnosed with Stage 3-4 fallopian tube cancer was advised to have genetic testing,” she said. “This confirmed she had a BRCA1 mutation and so we as her siblings were offered testing.”
“I was tested in July 2016 and was also found to have the mutation. By this time my other sister had also been found to have fallopian tube cancer. In October 2016 the histology of my ovaries showed I had stage 1c aggressive ovarian cancer. Thankfully although my treatment was not pleasant I have recovered well. Sadly this was not the end of the story. My children were offered genetic testing Thankfully my son, who has two young daughters did not have the mutation, but my daughter did. An MRI revealed a small but aggressive breast cancer. The treatment nearly cost her her life.”
The risk is not limited to women. Men who carry the BRCA2 mutation have double the risk of developing prostate cancer. However the report showed that eight in 10 men had never heard of a BRCA gene even though they could easily pass it on to their children. For the report contacted 531 women who were diagnosed with ovarian cancer between February and April this year. More than 1,000 members of the public were also interviewed about their knowledge of ovarian cancer and BRCA.
Katherine Taylor, Chief Executive of Ovarian Cancer Action said BRCA testing is ‘one of the strongest weapons’ against ovarian cancer but said NHS trusts were still restricting screening, which could be devastating for families who found out about their risk too late.
“There are still many eligible women not being offered a BRCA test when they are diagnosed with ovarian cancer,” she said. “Individuals with significant family history are also struggling to be referred for testing. The NHS is still missing the opportunity to use BRCA testing as an effective cancer prevention strategy, and women are dying as a result. No one eligible should slip through the net or be denied testing.”