Would you want to know if you’re likely to get cancer or dementia? Here’s what people who’ve had their results say
Checking our bodies for unusual lumps and bumps has become a normal way of looking after our health.
But what about considering how our genes might predispose us to cancer or cognitive decline? Should we find out – even in cases where we are powerless to stop it?
It’s been more than a decade since the so-called “Angelina Jolie effect“.
In 2013, the actress announced she’d had a double mastectomy, having tested positive for faults in the BRCA1 gene, which gave her an 87% chance of developing breast cancer and a 50% chance of ovarian cancer. She later had her ovaries and fallopian tubes removed.
Jolie underwent what is called “predictive” genetic testing, whereby her significant family history qualified her for further investigations and then surgery to reduce her cancer risk.
Angelina Jolie in 2013 – the year she announced her mastectomy. Pic: AP
But while genetic testing is increasingly becoming a feature for those diagnosed with cancer, NHS predictive testing for “unaffected” family members is under pressure from ever-increasing demand.
“There’s a real log jam,” says Professor Gareth Evans, medical genetics consultant at Manchester Foundation Trust and professor of cancer epidemiology and medical genetics at the University of Manchester.
If you don’t have cancer but have significant family history and, like Jolie, are approaching the age your relatives were diagnosed or died, you are referred through the NHS genetics service – instead of your hospital’s oncology department, he adds.
“If you want to be tested and you’re unaffected, the NHS doesn’t have enough genetic counsellors to cope with the number of referrals coming in,” Professor Evans says.
‘Ticking time bombs’
Tracie Miles, from the gynaecological cancer research charity Eve Appeal, describes some predictive testing cases as “ticking time bombs”.
“For unaffected patients, with say three relatives with certain types of cancer, they will be referred for genetic testing in their early 50s,” says Ms Miles, who is associate director of nursing and midwifery at the NHS South West Genomic Medicine Service Alliance.
“They’re like a ticking time bomb for those cancers, but can they get tested now? No. They’ve got to wait a year.”
Emma Lorenz, 48, from London, says had her half-sister Carly Moosah not been turned away for NHS predictive testing in 2017, doctors may have caught both their cancers earlier and avoided her having a hysterectomy.
She was diagnosed with stage 4b ovarian cancer in July 2019, with her sister noticing a swelling under her own arm and being diagnosed with breast cancer a few months later in December.
“My sister tried to get tested on the NHS around three years before her diagnosis,” she tells Sky News.
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Carly’s mother and grandmother both died of breast cancer in their 50s, having been diagnosed in their 40s.
Eventually, private tests revealed they had both inherited faulty BRCA1 genes from their father, whose Ashkenazi Jewish heritage means a six-times greater risk of BRCA mutations than the general population.
Emma, who is now cancer-free after surgery and multiple rounds of therapy and drugs, says: “If my sister had been tested before, both our cancer stories could have been so very different.
“My late-stage diagnosis also took my choice of having children away.”
But despite being tested much later than they could have been, Emma still credits their tests with saving their lives.
Emma during her cancer treatment. Pic: Emma Lorenz
“Getting my BRCA diagnosis probably ultimately saved my sister’s life,” she says.
“And because I also tested positive for the BRCA gene, I was offered an incredible pill that I would not have had access to if I didn’t.
“So on the one hand, it was a very hard diagnosis because of what it meant for my family, but on the other, it was a good thing in terms of treatment.”
‘Some people would rather not know’
Predictive genetic testing is also available on the NHS for certain forms of dementia.
People who have a close relative with frontotemporal dementia, which has a proven genetic link, or several relatives with an early onset form of the disease qualify.
But with no cure for either, or various other neurological diseases such as Parkinson’s, the decision to get tested is much more complex.
“If you’ve got a cancer-causing change in the BRCA gene, you can have surgery or screenings, which reduce your chances of getting cancer,” says Dr Alisdair McNeill, NHS clinical genetics consultant and senior clinical lecturer in neurogenetics at the University of Sheffield.
“But there are currently no cures for genetic brain diseases like some rare forms of dementia, so the benefits and motivations for having that test are different to the situation of cancer running in families.”
He adds that a positive test result can allow people to make more informed choices about their futures, careers, or to undergo IVF treatment to help prevent faulty genes from being passed to children.
But he says: “There are some misconceptions that there are things people can do after their diagnosis – and we often have to correct them in the very sad absence of any treatment.”
The NHS says that while a predictive test result “may reduce any stress and anxiety that comes from not knowing”, “a positive result may cause permanent anxiety” and “some people would rather not know about their risk”.
Alzheimer’s result at 27
Jayde Greene, from Hertfordshire, decided to get tested for PSEN1 gene mutations, associated with familial early-onset Alzheimer’s disease, after her father, two uncles, and aunt were all diagnosed in their 40s.
She says that while she initially tried to keep her family history from her mind, the funeral of her father’s twin not long after the birth of her son Freddie in 2016 saw her get tested aged 27.
“That’s when I decided I had to know,” she tells Sky News. “So I could prepare and know how to live the rest of my life with my son.”
Pic: Jayde Green
Jayde’s seven-year-old son Freddie. Pic: Jayde Greene
She received a positive result – meaning she’s at high risk of the disease – and in the days afterwards, she says she had suicidal thoughts and attempted an overdose.
“The first time I was on my own I started thinking all manner of things – that I couldn’t bear to be the way my dad was and have my son look at me like that.
“That he wasn’t even a year old yet, that if I went now, he wouldn’t remember me, and it’d hurt less.”
But she changed her mind, she says, and is now preparing to tell her son about her result when he is a teenager, before she reaches the age her relatives started showing symptoms.
Jayde with her father Michael. Pic: Jayde Greene
“I heard my son crying and I stopped what I was doing,” she says.
“I’ve never thought that way again, but I want people to know that feeling that way is also normal.”
Now aged 34, she stresses that although she tries to remain “90% hopeful”, there are “still bad days”.
“Medicine is making leaps and bounds,” she says. “But I also keep feeling that it’s been seven years and there’s been nothing yet.
“So there are days when my hope is gone and I’m convinced at 42, like my dad, that’ll be it.”
Jayde’s father Michael (R) and his twin brother John. Pic: Jayde Greene
Not enough genetic counsellors
Genetic counsellors are experts who help assess people’s genetic risk and guide them through the process of testing. There are only around 300 of them in the UK.
Professor Evans says that without their scientific expertise and psychological support, many women risk “falling apart” after a positive test result for a cancer-related gene.
But with waits of six months or a year for people who don’t already have cancer, increasing numbers are either buying testing kits online or trying to get results through private labs, which offer little-to-no genetic counselling, according to the experts.
“There is published evidence that programmes that use raw data from ancestry tests are only 50% accurate,” Professor Evans warns. “So you could be wrongly told you have a genetic fault, or if there is a fault in your family, told you don’t have one.”
These people often try to re-enter the NHS, he adds, to find it will not accept their result, meaning their waiting time starts over.
Ultimately, the decision to get tested is a personal choice, which also depends on the condition being tested for.
Professor Evans, who developed the Manchester scoring system for cancer testing, stresses the importance of genetic counselling in either scenario.
“If you carry a faulty BRCA1 or 2, your risk of breast cancer can be as high as 80% – that’s a really considerable risk,” he says. “So it’s about preparing people for the level of risk they’re going to be at.
“But if you do test positive, there’s a lot we can do about it and we can really reduce your likelihood of dying from cancer.”
Testing is ‘scary’ but ‘knowledge is power’
Kellie Armer, 34, from Lancashire, is having a preventative double mastectomy this year after testing positive for a BRCA1 mutation at 26.
She was aware of her genetic cancer risk from around 18 but says she “wasn’t mentally ready” then to get tested.
Now, having had two children and run the London Marathon for charity Prevent Breast Cancer, she says: “At 18 I didn’t want to go down that road. I was a bit too scared still.
“But now it’s about a future with my kids. Being able to see my girls grow up outweighs any selfish thing like being career-driven and not wanting to take time off work – or worrying about being unattractive.”
Kellie on her wedding day. Pic: Kellie Armer
Emma says she found her BRCA test result distressing.
“I thought I handled my cancer as well as I possibly could,” she says. “But the thing that probably upset me the most was finding out I had the BRCA gene.
“The idea my family, including my niece and nephew aged four and six at the time, would have to think about this, or get sick in the future, deeply upset me.”
Her medical team has recommended she gets preventative breast surgery. Although she wants to wait a few more years, she knows she “can’t put it off indefinitely”.
“That knowledge is power – it’s the key that unlocks what our future health holds,” she says. “So for me, it’s better to know than hide your head in the sand and pretend it’s not happening.”
Although there is still no cure for Alzheimer’s, Jayde agrees.
“I’d never change my decision to know,” she says. “As much as it’s come with bad, it’s also come with a lot of good. If I could go back, I’d do it and find out again.”
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Experts are calling for the NHS thresholds for predictive genetic testing to be lowered and for more public health campaigns around cancer and genetic risk.
Professor Evans says: “We should be expanding access to more unaffected people, but at the moment there just isn’t the manpower in NHS genetics to cope with more people coming in.”
Professor Dame Sue Hill, chief scientific officer for England and the senior responsible officer for NHS genomics, said: “It can be daunting finding out whether or not you have a cancer risk gene but I’d encourage anyone who has concerns to discuss them with their GP.
“Finding out early means people can get the support they need from the NHS including genetic counselling, further testing, surveillance or, crucially, treatment as early as possible.
“Genomic testing is offered for 3,200 rare diseases and more than 200 cancer indications, including for cancer predisposition genes.
“The NHS carries out over 800,000 tests in England every year, with eligibility criteria updated annually to reflect the latest scientific evidence.”
Anyone feeling emotionally distressed or suicidal can call Samaritans for help on 116 123 or email jo@samaritans.org in the UK. In the US, call the Samaritans branch in your area or 1 (800) 273-TALK
UK
Rhianan Rudd: How mother’s boyfriend played ‘significant’ role in radicalising youngest UK girl to face terror charges
Rhianan Rudd, who took her own life at the age of 16, was the youngest girl in the UK to be charged with terrorist offences.Â
The inquest into her death, which concluded today, revealed shocking details about her radicalisation by two American white supremacists, one of whom was her mother’s boyfriend, who the coroner said “played a material role in her radicalisation”.
Rhianan gouged a swastika into her forehead, downloaded a bomb-making manual and told her mother she planned to blow up a synagogue.
Investigated by anti-terrorism police and MI5, charges against her were later dropped, but five month later on 19 May 2022, she was found dead in her shower in a children’s home in Nottinghamshire. Hours earlier she had posted on Instagram: “I’m delving into madness.”
The evidence heard in Chesterfield Coroner’s Court from police, social services and even an MI5 operative, raised questions over the state’s part in her death – and whether, despite her obvious radicalisation, this vulnerable, autistic girl should have been treated with more care by the authorities.
Judge Alexia Durran said: “I’m not satisfied, on the balance of probabilities, Rhianan intended to take her own life. Rhianan’s death… was the result of a self-inflicted act but it is not possible to ascertain her intention.
“Rhianan was known, to family and professionals, to be vulnerable, to have autistic traits and have a history of self-harm.”
The coroner added: “I find she was highly affected by her arrest and was concerned about being sent to prison.”
It was not known what Rhianan was told by her legal team when the charges were dropped but this may have had a “psychological impact” on her, the coroner said.
Rhianan Rudd. Pic: Family handout
In an interview released at the verdict, Rhianan’s mother Emily Carter said her daughter “should never have been charged”, that she was failed by those investigating her, including MI5 and counter terrorism police, as well as being let down by mental health services and those caring for her at the home.
This was the most complex of cases, set at a time when our security services are seeing a growing number of children being arrested and charged for terrorist offences, while parents often seem oblivious to the radicalising material they are consuming online in their bedrooms.
Ms Durham’s ruling reflected this complexity, finding that while there were some failings the actions of the police and MI5 were “reasonable and proportionate”.
The coroner concluded today that she was satisfied that missed opportunities in her case were “not systemic”.
Judge Alexia Durran said: “In the circumstances I do not consider I should make a prevention of future deaths report.”
At the same she was unequivocal about the “significant” role played by two extremists in radicalising her.
It was her mother’s former boyfriend, an American she’d befriended though a US pen-pal prison scheme, who first introduced Rhianan to far-right ideology.
Dax Mallaburn had been part of a white supremacist prison gang in the US and subsequently came to the UK to live with Rhianan’s mother in September 2017, a year after she’d been to visit him in the US.
In the autumn of 2019, Rhianan alleged that he had touched her inappropriately but later withdrew the allegation and, after a social services assessment, Mr Mallaburn returned to the family home.
Ms Carter says: “In hindsight, he was a bad person but I never saw him talking Nazi stuff with her.”
Before Rhianan was arrested, Mr Mallaburn’s relationship with her mother had broken down and he returned to the US and then Mexico. However, during COVID, Rhianan appeared to contact another far-right extremist, Christopher Cook, and began an online relationship with him.
Cook, who was roughly 18 and living in Ohio, shared far-right texts with Rhianan along with a bomb-making manual, and during this time she became fixated with Adolf Hitler.
Emily Carter, the mother of Rhianan Rudd
Cook’s lawyer, Peter Scranton, says he too was radicalised online, and he came up with a plan to blow up power stations in the US, for which he was eventually arrested in August 2020, and in February 2022 he pleaded guilty to terrorism offences.
Cook, who was a misfit at school, suffering from “severe depression” according to his lawyer and was “essentially lashing out” as he tried to form a group to carry out his plan.
Mr Scranton told Sky News, “It was white nationalism, and they had this idea, and I don’t know why anyone would feel this way or how they thought it would work, that if they tore down the government and started over they could create a new United States of America that could look like the image that they would want – a white nationalist image.”
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Mr Scranton says Cook told him he didn’t radicalise Rhianan, and it was the former boyfriend, Dax Mallaburn, who’d initially got her into neo-Nazi ideology. However, the coroner found Cook was “a significant radicaliser of Rhianan” at a time when she was “isolated and unsupervised”.
Ms Carter says Rhianan was interested in German history because she was doing it at school and Cook was able to “pull her in”, to racial hatred and antisemitism. She says she didn’t know what was happening, despite having parental controls on Rhianan’s devices. She said: “I could hear her talking to people on there and I’d say who are you talking to and she’d say – just someone from school – and in fact I found out it wasn’t at all.
“When this person she was talking to disappeared, that’s when she sat down on my lap like a baby and cried. She told me this guy Chris had left her, and she was totally in love with him – then she came down and told me she had downloaded a bomb manual and I was like ‘Oh my god, what have you been doing’.”
Ms Carter decided to contact Prevent – a national program in the UK designed to stop individuals from becoming terrorists or supporting terrorism
She says: “I thought putting her in a deradicalisation programme would be a fairly easy undo ‘brain pick’, But it wasn’t until the police turned up that I thought ‘hang on a minute this is a lot deeper than I actually thought it was at first’.”
Ms Carter and her lawyers have argued that the police were heavy-handed, that there should have been a psychological assessment before she was even questioned over terrorism offences.
“There were 19 police officers to arrest a 5ft 1, 14-year-old girl who weighs seven stone. It was over the top,” says Ms Carter.
Once Rhianan was charged, the deradicalisation work under Prevent was put on hold. Ms Carter thinks this was a mistake.
She says: “Leaving her with her own thoughts throughout the entire time of going through the police interviews and everything else – the deradicalisation would have changed the way she was seeing things – I believe she would have been able to handle it all so much better.”
The coroner described the police arrest and interview as “necessary and conducted appropriately” and that, while ceasing the Prevent intervention was an “unfortunate consequence” of the police investigation, it was “an appropriate step”.
During police interviews, Rhianan described being coerced and groomed, including sexually, and having sent explicit images of herself to Cook.
Lawyers representing the family say police and MI5 knew she was the victim of child sexual exploitation but failed to refer her to the relevant body – the National Referral Mechanism.
It was only after a social worker made the referral, that she was identified as a child victim and then the charges were dropped, by which time she had been subject to investigation and prosecution for 15 months.
The coroner agreed that there was a “systems failure” due to a lack of training both within the police and the Derbyshire council who both had had “significant information” that she was a potential victim of modern slavery.
However, she also said it “was impossible to know” whether this would have led to the CPS dropping their charges sooner, “nor that if had more than minimal impact on Rhianan’s death”.
Ms Carter says if she’d been treated differently “she’d be troubled, but I do think she’d still be alive”.
Rhianan’s family say the security services knew her vulnerabilities and that she had a tendency to self-harm, but they failed to take this into account.
Ms Carter said: “I admit my mistakes and I want the organisations to admit their mistakes. There were failings and they need to admit them.”
This ruling however found that the state did not play a role in Rhianan’s death under article 2 of the European Convention on Human Rights.
For the most part, her vulnerabilities were known and taken into consideration. It does however show how extremists will exploit children with mental health problems, young people who are struggling with life who may be a danger to society, but also a risk to themselves.
Counter Terrorism Policing said it offered “sincere condolences to Rhianan’s family and loved ones for their terrible loss”.
Assistant Chief Constable Di Coulson, speaking on behalf of Counter Terrorism Policing in the East Midlands (CTPEM) and Derbyshire Constabulary, said: “This was a complex case involving a very vulnerable young person, who had been subjected to radicalisation.
“Rhianan’s tragic death was clearly devastating for her family. It was felt profoundly by the officers directly involved, but also across Counter Terrorism Policing as a whole.
“Rhianan’s case was a stark moment for our management of the growing numbers of children and young people in our casework – so often presenting vulnerability as well as risk and threat to the public.
“Since Rhianan’s death, we continue to work alongside our partners to evolve the way we approach cases involving children and, where feasible, attempt to rehabilitate and deradicalise, rather than investigate and convict.
“We welcome the findings of the Chief Coroner today, and while we have already made substantial improvements to the way we manage these cases, we will carefully review the findings and make any further changes in order to improve our protection of the public against terrorism.”
Anyone feeling emotionally distressed or suicidal can call Samaritans for help on 116 123 or email jo@samaritans.org in the UK. In the US, call the Samaritans branch in your area or 1 (800) 273-TALK
UK
NHS trust and ward manager found not guilty of manslaughter after woman took her own life at hospital
Warning: This article contains references to suicide
An NHS trust on trial following the death of a young woman at an east London hospital has been cleared of corporate manslaughter.
Alice Figueiredo, 22, took her own life while being treated at Goodmayes Hospital in July 2015.
The North East London NHS Foundation Trust (NELFT) had been charged with corporate manslaughter and was found not guilty, following a months-long trial. But it was instead found guilty of failing to ensure the health and safety of non-employees.
A not guilty verdict was also returned for hospital ward manager Benjamin Aninakwa, who was charged with gross negligence manslaughter.
Aninakwa also denied a charge of failing to take reasonable care for the health and safety of patients on the ward. He was found guilty.
The decisions were made after the joint-longest jury deliberation in English legal history.
A spokesperson for the North East London NHS Foundation Trust said their thoughts were with Alice’s family and loved ones.
“We extend our deepest sympathy for the pain and heartbreak they have suffered this past ten years,” they said.
“We will reflect on the verdict and its implications, both for the Trust and mental health provision more broadly as we continue to work to develop services for the communities we serve.”
Aninakwa was accused of failing to remove items from the ward capable of use for self-harm and failing to ensure incidents of self-harm were recorded, considered and addressed.
Ms Figueiredo was described as a bright and gifted young woman, who had been head girl at her school.
She struggled with her mental health and had been diagnosed with an eating disorder as well as bipolar affective disorder.
In February 2015, Ms Figueiredo was admitted to Hepworth Ward, an acute psychiatric unit at Goodmayes Hospital.
During her five months on the ward, the jury at the Old Bailey heard how she had attempted to harm or kill herself on 39 occasions, including 18 times with plastic bags.
Despite this, Ms Figueiredo was able to access a bag, and on 7 July she killed herself using a bag taken from a communal toilet on the ward.
Alice Figueiredo was admitted to Goodmayes Hospital
The trial also heard evidence about the reporting of incidents on the hospital computer system.
Last year, Health Secretary Wes Streeting made damning remarks about NELFT at a conference of NHS leaders.
“I’m very aware of NELFT not least because NELFT has and continues to appear in the headlines for providing really poor quality care,” he said.
Ms Figueiredo’s family visited her regularly in hospital, and repeatedly raised concerns about her care.
The jury heard how her mother, Jane Figueiredo, wrote to managers warning: “It is only a matter of time before there is a fatality on this ward.”
Campaigners believe Ms Figueiredo’s death points to wider problems with mental health care.
Deborah Coles, director of the charity Inquest, said: “I hope that irrespective of the verdict, this will send shock waves and ensure that learning and change is an absolute priority.”
Anyone feeling emotionally distressed or suicidal can call Samaritans for help on 116 123 or email jo@samaritans.org in the UK. In the US, call the Samaritans branch in your area or 1 (800) 273-TALK
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