{"id":864,"date":"2024-06-08T12:02:27","date_gmt":"2024-06-08T12:02:27","guid":{"rendered":"https:\/\/tradetrovex.com\/index.php\/2024\/06\/08\/would-you-want-to-know-if-your-genes-predisposed-you-to-a-disease-even-if-that-disease-would-kill-you\/"},"modified":"2024-06-08T12:02:27","modified_gmt":"2024-06-08T12:02:27","slug":"would-you-want-to-know-if-your-genes-predisposed-you-to-a-disease-even-if-that-disease-would-kill-you","status":"publish","type":"post","link":"https:\/\/tradetrovex.com\/index.php\/2024\/06\/08\/would-you-want-to-know-if-your-genes-predisposed-you-to-a-disease-even-if-that-disease-would-kill-you\/","title":{"rendered":"Would you want to know if your genes predisposed you to a disease \u2013 even if that disease would kill you?"},"content":{"rendered":"
\n

Checking our bodies for unusual lumps and bumps has become a normal way of looking after our health.<\/p>\n

But what about considering how our genes might predispose us to cancer or cognitive decline? Should we find out \u2013 even in cases where we are powerless to stop it?<\/p>\n

It\u2019s been more than a decade since the so-called \u201cAngelina Jolie effect<\/strong>\u201c.<\/p>\n

In 2013, the actress announced she\u2019d 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.<\/p>\n

Jolie underwent what is called \u201cpredictive\u201d genetic testing, whereby her significant family history qualified her for further investigations and then surgery to reduce her cancer risk.<\/p>\n

But while genetic testing is increasingly becoming a feature for those diagnosed with cancer, NHS predictive testing for \u201cunaffected\u201d family members is under pressure from ever-increasing demand.<\/p>\n

\u201cThere\u2019s a real log jam,\u201d says Professor Gareth Evans, medical genetics consultant at Manchester Foundation Trust and professor of cancer epidemiology and medical genetics at the University of Manchester.<\/p>\n

If you don\u2019t 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 \u2013 instead of your hospital\u2019s oncology department, he adds.<\/p>\n

\u201cIf you want to be tested and you\u2019re unaffected, the NHS doesn\u2019t have enough genetic counsellors to cope with the number of referrals coming in,\u201d Professor Evans says.<\/p>\n

\u2018Ticking time bombs\u2019<\/strong><\/p>\n

Tracie Miles, from the gynaecological cancer research charity Eve Appeal, describes some predictive testing cases as \u201cticking time bombs\u201d.<\/p>\n

\u201cFor unaffected patients, with say three relatives with certain types of cancer, they will be referred for genetic testing in their early 50s,\u201d says Ms Miles, who is associate director of nursing and midwifery at the NHS South West Genomic Medicine Service Alliance.<\/p>\n

\u201cThey\u2019re like a ticking time bomb for those cancers, but can they get tested now? No. They\u2019ve got to wait a year.\u201d<\/p>\n

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.<\/p>\n

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.<\/p>\n

\u201cMy sister tried to get tested on the NHS around three years before her diagnosis,\u201d she tells Sky News.<\/p>\n

Carly\u2019s mother and grandmother both died of breast cancer in their 50s, having been diagnosed in their 40s.<\/p>\n

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.<\/p>\n

Emma, who is now cancer-free after surgery and multiple rounds of therapy and drugs, says: \u201cIf my sister had been tested before, both our cancer stories could have been so very different.<\/p>\n

\u201cMy late-stage diagnosis also took my choice of having children away.\u201d<\/p>\n

But despite being tested much later than they could have been, Emma still credits their tests with saving their lives.<\/p>\n

\u201cGetting my BRCA diagnosis probably ultimately saved my sister\u2019s life,\u201d she says.<\/p>\n

\u201cAnd 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\u2019t.<\/p>\n

\u201cSo 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.\u201d<\/p>\n

\u2018Some people would rather not know\u2019<\/strong><\/p>\n

Predictive genetic testing is also available on the NHS for certain forms of dementia.<\/p>\n

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.<\/p>\n

But with no cure for either, or various other neurological diseases such as Parkinson\u2019s, the decision to get tested is much more complex.<\/p>\n

\u201cIf you\u2019ve got a cancer-causing change in the BRCA gene, you can have surgery or screenings, which reduce your chances of getting cancer,\u201d says Dr Alisdair McNeill, NHS clinical genetics consultant and senior clinical lecturer in neurogenetics at the University of Sheffield.<\/p>\n

\u201cBut 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.\u201d<\/p>\n

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.<\/p>\n

But he says: \u201cThere are some misconceptions that there are things people can do after their diagnosis \u2013 and we often have to correct them in the very sad absence of any treatment.\u201d<\/p>\n

The NHS says that while a predictive test result \u201cmay reduce any stress and anxiety that comes from not knowing\u201d, \u201ca positive result may cause permanent anxiety\u201d and \u201csome people would rather not know about their risk\u201d.<\/p>\n

Alzheimer\u2019s result at 27<\/strong><\/p>\n

Jayde Greene, from Hertfordshire, decided to get tested for PSEN1 gene mutations, associated with familial early-onset Alzheimer\u2019s disease, after her father, two uncles, and aunt were all diagnosed in their 40s.<\/p>\n

She says that while she initially tried to keep her family history from her mind, the funeral of her father\u2019s twin not long after the birth of her son Freddie in 2016 saw her get tested aged 27.<\/p>\n

\u201cThat\u2019s when I decided I had to know,\u201d she tells Sky News. \u201cSo I could prepare and know how to live the rest of my life with my son.\u201d<\/p>\n

She received a positive result \u2013 meaning she\u2019s at high risk of the disease \u2013 and in the days afterwards, she says she had suicidal thoughts and attempted an overdose.<\/p>\n

\u201cThe first time I was on my own I started thinking all manner of things \u2013 that I couldn\u2019t bear to be the way my dad was and have my son look at me like that.<\/p>\n

\u201cThat he wasn\u2019t even a year old yet, that if I went now, he wouldn\u2019t remember me, and it\u2019d hurt less.\u201d<\/p>\n

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.<\/p>\n

\u201cI heard my son crying and I stopped what I was doing,\u201d she says.<\/p>\n

\u201cI\u2019ve never thought that way again, but I want people to know that feeling that way is also normal.\u201d<\/p>\n

Now aged 34, she stresses that although she tries to remain \u201c90% hopeful\u201d, there are \u201cstill bad days\u201d.<\/p>\n

\u201cMedicine is making leaps and bounds,\u201d she says. \u201cBut I also keep feeling that it\u2019s been seven years and there\u2019s been nothing yet.<\/p>\n

\u201cSo there are days when my hope is gone and I\u2019m convinced at 42, like my dad, that\u2019ll be it.\u201d<\/p>\n

Not enough genetic counsellors<\/strong><\/p>\n

Genetic counsellors are experts who help assess people\u2019s genetic risk and guide them through the process of testing. There are only around 300 of them in the UK.<\/p>\n

Professor Evans says that without their scientific expertise and psychological support, many women risk \u201cfalling apart\u201d after a positive test result for a cancer-related gene.<\/p>\n

But with waits of six months or a year for people who don\u2019t 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.<\/p>\n

\u201cThere is published evidence that programmes that use raw data from ancestry tests are only 50% accurate,\u201d Professor Evans warns. \u201cSo you could be wrongly told you have a genetic fault, or if there is a fault in your family, told you don\u2019t have one.\u201d<\/p>\n

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.<\/p>\n

Ultimately, the decision to get tested is a personal choice, which also depends on the condition being tested for.<\/p>\n

Professor Evans, who developed the Manchester scoring system for cancer testing, stresses the importance of genetic counselling in either scenario.<\/p>\n

\u201cIf you carry a faulty BRCA1 or 2, your risk of breast cancer can be as high as 80% \u2013 that\u2019s a really considerable risk,\u201d he says. \u201cSo it\u2019s about preparing people for the level of risk they\u2019re going to be at.<\/p>\n

\u201cBut if you do test positive, there\u2019s a lot we can do about it and we can really reduce your likelihood of dying from cancer.\u201d<\/p>\n

Testing is \u2018scary\u2019 but \u2018knowledge is power\u2019<\/strong><\/p>\n

Kellie Armer, 34, from Lancashire, is having a preventative double mastectomy this year after testing positive for a BRCA1 mutation at 26.<\/p>\n

She was aware of her genetic cancer risk from around 18 but says she \u201cwasn\u2019t mentally ready\u201d then to get tested.<\/p>\n

Now, having had two children and run the London Marathon for charity Prevent Breast Cancer, she says: \u201cAt 18 I didn\u2019t want to go down that road. I was a bit too scared still.<\/p>\n

\u201cBut now it\u2019s 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 \u2013 or worrying about being unattractive.\u201d<\/p>\n

Emma says she found her BRCA test result distressing.<\/p>\n

\u201cI thought I handled my cancer as well as I possibly could,\u201d she says. \u201cBut the thing that probably upset me the most was finding out I had the BRCA gene.<\/p>\n

\u201cThe 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.\u201d<\/p>\n

Her medical team has recommended she gets preventative breast surgery. Although she wants to wait a few more years, she knows she \u201ccan\u2019t put it off indefinitely\u201d.<\/p>\n

\u201cThat knowledge is power \u2013 it\u2019s the key that unlocks what our future health holds,\u201d she says. \u201cSo for me, it\u2019s better to know than hide your head in the sand and pretend it\u2019s not happening.\u201d<\/p>\n

Although there is still no cure for Alzheimer\u2019s, Jayde agrees.<\/p>\n

\u201cI\u2019d never change my decision to know,\u201d she says. \u201cAs much as it\u2019s come with bad, it\u2019s also come with a lot of good. If I could go back, I\u2019d do it and find out again.\u201d<\/p>\n

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.<\/p>\n

Professor Evans says: \u201cWe should be expanding access to more unaffected people, but at the moment there just isn\u2019t the manpower in NHS genetics to cope with more people coming in.\u201d<\/p>\n

Sky News has contacted NHS England for comment.<\/p>\n

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<\/strong><\/p>\n<\/p>\n

This post appeared first on sky.com<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"

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