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?
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.
Image: 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.
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.
Image: 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.”
Genetic testing and cancer
The NHS offers tests for faults in the following cancer-related genes:
BRCA1 and BRCA2 (breast and ovarian cancer)
PALB2 (breast, ovarian, prostate, and pancreatic cancer)
ATM (breast cancer)
CHEK2 (breast cancer)
You qualify for testing if you:
Had breast cancer at 40 or younger
Had it in both breasts at 50 or younger
Had triple negative breast cancer at 60 or younger
Had ovarian cancer at any age
Had breast cancer at 45 or younger and so did a first-degree relative
Had breast and ovarian cancer at any age
Had male breast cancer at any age
Have at least one Ashkenazi Jewish grandparent
Had any cancer and a Manchester score of 15 or higher (10% risk)
Have not had cancer but have a Manchester score of 20 or higher
‘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”.
Genetic testing and dementia
The NHS offers genetic testing for dementia if:
You have a first-degree relative who has been diagnosed with frontotemporal dementia
You have more than one relative diagnosed with any dementia at 65 or younger
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.”
Image: Pic: Jayde Green
Image: 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.
Image: 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.”
Image: 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.
What does a genetic counsellor do?
Genetic counsellors are experts in genetics that work in the NHS to help people understand:
The risks and benefits of having a genetic test;
The potential results of a test and what they mean;
How family members may be affected if the test result shows a serious health condition runs in the family;
The risk of passing on a health condition to children;
The options if your child has an inherited health condition and you do not want your next child to inherit it.
They have usually completed a three-year undergraduate degree in genetics, followed by a two-year masters programme.
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.”
Image: 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
At least 13 people may have taken their own lives after being accused of wrongdoing based on evidence from the Horizon IT system that the Post Office and developers Fujitsu knew could be false, the public inquiry has found.
A further 59 people told the inquiry they considered ending their lives, 10 of whom tried on at least one occasion, while other postmasters and family members recount suffering from alcoholism and mental health disorders including anorexia and depression, family breakup, divorce, bankruptcy and personal abuse.
Writing in the first volume of the Post Office Horizon IT Inquiry report, chairman Sir Wyn Williams concludes that this enormous personal toll came despite senior employees at the Post Office knowing the Horizon IT system could produce accounts “which were illusory rather than real” even before it was rolled out to branches.
Sir Wyn said: “I am satisfied from the evidence that I have heard that a number of senior, and not so senior, employees of the Post Office knew or, at the very least, should have known that Legacy Horizon was capable of error… Yet, for all practical purposes, throughout the lifetime of Legacy Horizon, the Post Office maintained the fiction that its data was always accurate.”
Referring to the updated version of Horizon, known as Horizon Online, which also had “bugs errors and defects” that could create illusory accounts, he said: “I am satisfied that a number of employees of Fujitsu and the Post Office knew that this was so.”
The first volume of the report focuses on what Sir Wyn calls the “disastrous” impact of false accusations made against at least 1,000 postmasters, and the various redress schemes the Post Office and government has established since miscarriages of justice were identified and proven.
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‘It stole a lot from me’
Recommendations regarding the conduct of senior management of the Post Office, Fujitsu and ministers will come in a subsequent report, but Sir Wyn is clear that unjust and flawed prosecutions were knowingly pursued.
“All of these people are properly to be regarded as victims of wholly unacceptable behaviour perpetrated by a number of individuals employed by and/or associated with the Post Office and Fujitsu from time to time and by the Post Office and Fujitsu as institutions,” he says.
What are the inquiry’s recommendations?
Calling for urgent action from government and the Post Office to ensure “full and fair compensation”, he makes 19 recommendations including:
• Government and the Post Office to agree a definition of “full and fair” compensation to be used when agreeing payouts • Ending “unnecessarily adversarial attitude” to initial offers that have depressed the value of payouts, and ensuring consistency across all four compensation schemes • The creation of a standing body to administer financial redress to people wronged by public bodies • Compensation to be extended to close family members of those affected who have suffered “serious negative consequences” • The Post Office, Fujitsu and government agreeing a programme for “restorative justice”, a process that brings together those that have suffered harm with those that have caused it
Regarding the human impact of the Post Office’s pursuit of postmasters, including its use of unique powers of prosecution, Sir Wyn writes: “I do not think it is easy to exaggerate the trauma which persons are likely to suffer when they are the subject of criminal investigation, prosecution, conviction and sentence.”
He says that even the process of being interviewed under caution by Post Office investigators “will have been troubling at best and harrowing at worst”.
The report finds that those wrongfully convicted were “subject to hostile and abusive behaviour” in their local communities, felt shame and embarrassment, with some feeling forced to move.
Detailing the impact on close family members of those prosecuted, Sir Wyn writes: “Wives, husbands, children and parents endured very significant suffering in the form of distress, worry and disruption to home life, in employment and education.
“In a number of cases, relationships with spouses broke down and ended in divorce or separation.
“In the most egregious cases, family members themselves suffered psychiatric illnesses or psychological problems and very significant financial losses… their suffering has been acute.”
The report includes 17 case studies of those affected by the scandal including some who have never spoken publicly before. They include Millie Castleton, daughter of Lee Castleton, one of the first postmasters prosecuted.
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Three things you need to know about Post Office report
She told the inquiry how her family being “branded thieves and liars” affected her mental health, and contributed to a diagnosis of anorexia that forced her to drop out of university.
Her account concludes: “Even now as I go into my career, I still find it so incredibly hard to trust anyone, even subconsciously. I sabotage myself by not asking for help with anything.
“I’m trying hard to break this cycle but I’m 26 and am very conscious that I may never be able to fully commit to natural trust. But my family is still fighting. I’m still fighting, as are many hundreds involved in the Post Office trial.”
Business Secretary Jonathan Reynolds said the inquiry’s report “marks an important milestone for sub-postmasters and their families”.
He added that he was “committed to ensuring wronged sub-postmasters are given full, fair, and prompt redress”.
“The recommendations contained in Sir Wyn’s report require careful reflection, including on further action to complete the redress schemes,” Mr Reynolds said.
“Government will promptly respond to the recommendations in full in parliament.”
The long-awaited first report from the Post Office Horizon scandal inquiry lays bare not just the devastating personal toll of one of the greatest miscarriages of justice in British legal history, but also the slow-motion failure of the government and the Post Office to deliver meaningful redress.
Sir Wyn Williams’s first report documents with stark clarity how hundreds of sub-postmasters, wrongly accused of theft and fraud due to the faulty Horizon IT system, lost their livelihoods, homes, reputations – and in some cases, their lives.
Thirteen people are believed to have taken their lives as a result of the scandal.
Fifty-nine contemplated it.
It talks of alcohol addiction, serious mental illness, and bankruptcy – all tearing families apart and leaving behind a heartbreaking legacy.
But if the scandal was a failure of justice, the response to it has become a second injustice.
More on Post Office Scandal
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Critical on a technical level
The report is critical, on a fairly technical level, about the complexity, delays, and bureaucracy of redress schemes that have left victims still waiting years for full compensation.
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‘It stole a lot from me’
Hundreds of whom have died before seeing “full and fair redress”.
While Sir Wyn is fair to the government and the Post Office in stating that he believes their commitment to delivering the above has been in “good faith”, he concludes this has not been achieved for every victim, describing “formidable” difficulties.
There are 19 recommendations – including a push to ensure consistency across all four redress schemes, with an agreed and public definition of “full and fair redress”.
Compensation
Among them, that family members of victims should be compensated, and a permanent public body established to manage future redress schemes in future.
Additionally, Fujitsu, the Post Office, and the government should engage in formal restorative justice programmes.
There was also a flavour of what is to come in the final report later this year or next.
The report has found that both Fujitsu and Post Office staff knew Horizon could produce false data but concealed this, maintaining a false narrative of accuracy.
One of the most important things now, though, is how and when the government, Post Office, and Fujitsu respond officially.
Sir Wyn has also set a deadline of 10 October 2025 for that.
The victims of this scandal have waited long enough.
There was a “wholesale and general failure” to address the risks posed by Axel Rudakubana before the Southport attack, the chairman of the public inquiry into the murders has said.
In his opening statement at Liverpool Town Hall, Sir Adrian Fulford said the teenager’s “known predilection for knife crime” suggests it was “far from an unforeseeable catastrophic event”.
The former vice president of the Court of Appeal said Rudakubana’s actions “impose the heaviest of burdens” to investigate how it was possible for him to cause “such devastation”.
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‘We need to understand what went wrong’
The 18-year-old murdered Elsie Dot Stancomb, seven, Bebe King, six, and Alice da Silva Aguiar, nine, at a Taylor Swift-themed class on 29 July last year.
He also injured eight other children and two adults at the Hart Space in the Merseyside seaside town, with Sir Adrian describing the attack as “one of the most egregious crimes in our country’s history”.
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‘We don’t want Elsie forgotten’
The public inquiry, announced by Home Secretary Yvette Cooper in January, will look into whether the attack could or should have been prevented, given what was known about the killer.
Rudakubana, who was born in Cardiff, had been referred to the government’s anti-extremism Prevent scheme three times before the murders, including over research into school shootings and the London Bridge terror attack.
He had also accessed online material about explosives, warfare, knives, assassination and an al Qaeda training manual.
A rapid review into his contact with Prevent found his case should have been kept open and that he should have been referred to Channel, another anti-terror scheme.
Rudakubana was twice caught with a knife and managed to hoard other blades, as well as a bow and arrow, machetes, a sledgehammer and the deadly toxin ricin at his home.
He bought the 20cm chef’s knife used to carry out the attack using a Virtual Private Network (VPN).
Sir Adrian said he did not want to pre-judge the outcome of the inquiry.
But he added: “These factors, if correct and when taken together, tend to suggest that far from being an unforeseeable catastrophic event, the perpetrator posed a very serious and significant risk of violent harm, over a number of years, with a particular and known predilection for knife crime.
“Furthermore, his ability, unhindered, to access gravely violent material on the internet, to order knives online when underage, and then to leave home unsupervised to commit the present attack, speaks to a wholesale and general failure to intervene effectively, or indeed at all, to address the risks that he posed.”
Sir Adrian said the inquiry will examine decisions taken in light of Rudakubana’s “deteriorating and deeply troubling behaviour” to identify “without fear or favour” all of the relevant failings.
He said he aims to make recommendations to ensure the best chance of stopping others “who may be drawn to treating their fellow human beings in such a cruel and inhuman way”.
Rudakubana, 18, was jailed for a minimum of 52 years in January and is being investigated over an alleged attack on a prison officer at Belmarsh prison in May.
Sir Adrian said he would be referred to by his initials or as “the perpetrator” during the inquiry and asked the media not to show his “terrifying and singularly distressing” police mugshot to avoid causing distress to the survivors and their families, who have been granted anonymity.
The surviving children, many whom were under the age of 10, are “bravely trying to cope with school life in the face of what they have suffered,” he added.
Sir Adrian asked those in the room to stand for a minute’s silence for the victims.
Some of those whose children were injured will speak at a hearing on Wednesday before the inquiry is adjourned to 8 September, with the first phase expected to last until November.
It will then move on to a second phase next year to “consider the wider issues of children and young people being drawn into extreme violence”.
Rachael Wong, director at law firm Bond Turner, representing the three bereaved families, said: “We know that nothing the inquiry reveals or subsequently recommends will change the unimaginable loss felt by the families of Elsie, Alice and Bebe, but we all now have a responsibility to ensure that something like this never happens again.
“We will be doing all we can to assist the chair through the inquiry and uncover the truth.
“It is only through intense public scrutiny that real change can be effected.”
Sefton Council is asking people not to leave flowers near schools or the scene of the attack to mark the anniversary later this month, but to donate to local charitable causes instead.
There will be a three-minute silence and flags will be lowered to half-mast on public buildings around the Liverpool city region.
“We fully understand that many of us still need to grieve and to mark the day,” the council said in an open letter.
“Our colleagues have been working with faith and community leaders to identify local spaces where you can go, within your neighbourhood, to pay tribute, whether this be to say a prayer, light a candle, speak to someone or quietly reflect in a way that feels right for you.”