Latest news with #GenomicsEngland
Medscape
21-07-2025
- Health
- Medscape
The Ethical Minefield of Genetic Testing for All
Dr Arya Anthony Kamyab Imagine being able to screen an embryo's DNA and predict the likelihood of developing diseases such as diabetes or schizophrenia. DNA technology has been knocking on the door of health innovation for some time, and it looks as though it has finally arrived in the NHS. The government's 10 Year Health Plan for England aims to 'provide a genomic test for every newborn baby by 2035,' Health and Social Care Secretary Wes Streeting confirmed to the House of Commons this month. This would require redesigning our current practice. At present, when babies are born, the heel-prick test screens for nine rare conditions using biochemical markers. The plan to introduce genetic testing will entail all newborns in England having DNA screening which, rather than looking for chemical markers, uses whole genome sequencing to look for changes in genes associated with more than 200 conditions that can be improved if identified early. Genetic screening is not intended to replace the heel-prick test, which will continue to be carried out regardless of whether parents decide to opt out of genomic screening. Genomics England is helping lead research. It's 100,000 Genomes Project has sequenced more than 85,000 participants' genomes, with 18.5% of data so far turned into actionable findings. The Generation Study from Genomics England plans to build on these foundations to sequence the genomes of a similar number of newborn babies. This genomics information will be interpreted through AI to help predict and avert genetic illness before the onset of symptoms. Predictive Power DNA is not a deterministic code with a unique ability to predict the future. Modern science has linked certain genetic variants to specific diseases. However, countless others — known as variants of uncertain significance — remain unclassified, their potential harmful, neutral, or beneficial. Some of these variants, which currently evade our 21st century understanding of genetics, will inevitably be associated with diseases. This project could undoubtably illuminate many of those missing gaps and transform our knowledge of inherited risk. So, what undermines DNA's predictive value in determining who we grow up to be? We can break the answer down into three reasons: incomplete penetrance, variable expressivity, and being heavily shaped by environment. Incomplete penetrance is a fancy term used by geneticists. It refers to a scenario in which individuals carry a specific genetic mutation but do not always express the associated disease or trait. We see this with the BRCA1 gene, which increases the risk for breast and ovarian cancer, but not all carriers develop these diseases. Then we have variable expressivity, which often gets confused for penetrance but is a distinct concept. Where penetrance concerns itself with whether the trait (or condition) will appear, expressivity describes its severity or types of symptoms once present. Finally, the interplay between genes and environment is vital for the presence of disease. But have you ever considered how the knowledge of genetic susceptibility may affect one's behaviour? If you were to know that your genes confer a greater risk for, say, diabetes, could that lead to behaviour modification? Fewer takeaways and more exercise? The Ethical Minefield Make no mistake, having access to genetic information will save lives and reduce suffering. It will further our understanding of genetics, a foundational pillar of medical science. This doesn't make the debate a foregone conclusion, however, as the ethical terrain is incredibly complex. The Generation Study is not sequencing parents' genes. However, it would mean universal screening of babies' genomes before they can consent. Few could argue that telling parents that their child has a noncurable condition will unleash significant anxiety and stress. Some may argue it is not worth the potential benefits, while others may prioritise the long-term gains in scientific advancement. Research published in the Nature journal European Journal of Human Genetics suggests that most parents would plan to tell their children their screening results in childhood, whilst some would postpone this news due to the potential negative impacts it may have on their self-esteem. Perhaps, then, this scheme should report only on a predefined panel of conditions where early treatment makes a significant impact on outcomes. What makes a disease "treatable" or not is also not black and white and will raise further difficult questions. But this is where we have to be careful. The argument against screening for diseases that are not treatable in 2025 overlooks the fact that such programmes generate valuable data, which can play a role in the development of future breakthroughs and therapies. Consider knowledge as a burden for a moment. We know of genetic variants that are associated with Alzheimer's disease. How are parents supposed to raise a child that they know has a genetically increased risk of developing Alzheimer's? For some, the answer is simple: Do nothing. The exact cause of Alzheimer's is not understood, which means there is no certain way to prevent it. But this reductionist approach of simply deciding to do nothing is much easier said than done. Regardless of whether you choose to report on only a predefined panel of conditions, patients will know that the data exist. Once the genome is sequenced, it cannot be unsequenced. Doctors, geneticists, and academics will have to carry the moral burden of knowing more than they can responsibly act on. And what about patients? If they know that the data exist but are withheld because conditions are deemed nonactionable, what will stop them demanding the information and paying a third party to interpret the results? If so, we risk creating a two-tier system where genomic knowledge is in the hands of the most affluent. The Slippery Slope to Discrimination The most common fear that populates headlines is the misuse of genetic data. A reference to George Orwell's 1984 is never too far when data acquisition for 'the greater good' is mentioned. Maybe we can begin a new movement, calling this Orwell's Law? But this concern deserves to be taken seriously. In philosophy, a slippery-slope argument is when a decision is rejected because the arguer believes it will lead to a chain reaction that results in an undesirable end. The issue with slippery-slope fallacies is that they are incredibly easy to make and the proponents often fail to do the hard work of logically connecting each step to show why one outcome would lead to the next. So, are the concerns legitimate? Genetic test results can affect insurance policies. In the UK, insurers cannot ask you to take a genetic test, but they can ask for results of a test if you have already taken one. If genetic testing becomes widespread, it may prove difficult to keep this information from insurers. Others may also want access. Genomic data are akin to your identity. The acquisition of this information creates a layer of vulnerability that understandably makes many nervous. Could employers make decisions on whether to hire someone with a predisposition to a mental illness, for instance? And yet despite all this, it would be terse to flat-out ignore what this technology may be able to bring. Identification of, say, spinal muscle atrophy at a presymptomatic stage can significantly improve outcomes and slow the progression of disease. This debate is complex but at the same time fascinating. We are remoulding healthcare and shifting the timescale for where medicine begins. But this comes with risk and ethical questions.
Yahoo
30-06-2025
- Health
- Yahoo
Hundreds of reactions and multiple deaths linked to weight-loss jabs
Hundreds of people have reported problems with their pancreas linked to taking weight loss and diabetes jabs, prompting health officials to launch a new study into side effects. Some cases of pancreatitis reported to be linked to GLP-1 medicines (glucagon-like peptide-1 receptor agonists) have been fatal. Data from the medicines regulator, the Medicines and Healthcare products Regulatory Agency (MHRA), shows that since the drugs were licensed there have been hundreds of cases of acute and chronic pancreatitis among people taking GLP-1 medicines. This includes: READ MORE: Government says stock up on nine emergency items as war risk increases READ MORE: Emergency alert to be sent to every UK mobile phone 181 reported cases of acute and chronic pancreatitis linked to tirzepatide – the active ingredient for Mounjaro. Five people died. 116 reported reactions of this kind linked to liraglutide, one of which was fatal. 113 cases of acute and chronic pancreatitis linked to semaglutide – the active ingredient for Ozempic and Wegovy. One person died. 101 reported reactions of this kind linked to exenatide, three people died. 52 reported reactions of this sort linked to dulaglutide and 11 reported reactions lixisenatide. No fatalities were linked to either drug. These cases are not confirmed as being caused by the medicines, but the person who reported them suspected they may be. Nonetheless, Yellow Card Biobank project, launched by the MHRA and Genomics England, will see researchers examine whether cases of pancreatitis linked to GLP-1 drugs may be influenced by peoples genetic makeup. The MHRA is calling for people who are taking GLP-1 medicine who have been admitted to hospital due to acute pancreatitis to submit a report to its Yellow Card scheme. When a Yellow Card report is received, the MHRA will contact patients to ask if they would be willing to take part in the study. Patients will be asked to submit more information and a saliva sample which will be assessed to explore whether some people are at a higher risk of acute pancreatitis when taking these medicines due to their genes. GLP-1 agonists can lower blood sugar levels in people living with type 2 diabetes and can also be prescribed to support some people with weight loss. Recent estimates suggest that about 1.5 million people in the UK are taking weight loss jabs. Health officials have suggested that they can help to turn the tide on obesity, but have stressed they are not a silver bullet and do come with side effects. Most side effects linked to the jabs are gastrointestinal including nausea, constipation and diarrhoea. And the medical regulator recently warned that Mounjaro may make the oral contraceptive pill less effective in some patients. Dr Alison Cave, MHRA's chief safety officer, said: 'Evidence shows that almost a third of side effects to medicines could be prevented with the introduction of genetic testing, it is predicted that adverse drug reactions could cost the NHS more than £2.2 billion a year in hospital stays alone. 'Information from the Yellow Card Biobank will help us to better predict those most at risk of adverse reactions – enabling patients across the UK to receive the safest medicine for them, based on their genetic makeup. To help us help you, we're asking anyone who has been hospitalised with acute pancreatitis while taking a GLP-1 medicine to report this to us via our Yellow Card scheme. 'Even if you don't meet the criteria for this phase of the Biobank study, information about your reaction to a medication is always extremely valuable in helping to improve patient safety.' Professor Matt Brown, chief scientific officer of Genomics England, said: 'GLP-1 medicines like Ozempic and Wegovy have been making headlines, but like all medicines there can be a risk of serious side effects. We believe there is real potential to minimise these with many adverse reactions having a genetic cause. 'This next step in our partnership with the MHRA will generate data and evidence for safer and more effective treatment through more personalised approaches to prescription, supporting a shift towards an increasingly prevention-focused healthcare system.' Both Eli Lilly, which makes Mounjaro, and Novo Nordisk, the maker of Ozempic and Wegovy, have been approached for comment.
The Guardian
27-06-2025
- Health
- The Guardian
Ethical questions surround the NHS sampling babies' DNA
Re your report (All babies in England to get DNA test to assess risk of diseases within 10 years, 20 June), the NHS plans to test the DNA of all babies to 'assess disease risk', in association with AI, having already sampled 100,000 newborns. The Department of Health and Social Care said that genomics and AI would be used to 'revolutionise prevention' and provide faster diagnoses and an 'early warning signal for disease'. In line with previous predictions, when individuals who submitted to a PCR test (which amplifies genetic material) during Covid-19 had their DNA sold for profit without their consent, infants now face their private, personal, biological data being captured, stored and used by who-knows-what corporations on behalf of the NHS. Not everyone wants to know what potential diseases they might suffer from in the future, especially if there is no known treatment. And for what purposes might it be used, other than 'prediction of disease risk'? Testing of new drugs? Testing of vaccines? Clearly an infant cannot give consent to its DNA being used for these purposes and research on children is unethical unless they stand to benefit. Will parents have the opportunity to give informed consent and can it even be informed if they are unaware of the many potential uses of the material? A global genomics market of $32.65bn in 2023 suggests that this is big business. Genomics England already makes available patients' genomic data to businesses. The association with AI additionally raises the spectre of surveillance in the form of digital IDs, incorporating not only biometric data, such as fingerprints, retinal scans and facial recognition, but potentially even the human genome itself. The NHS data of 57 million patients has already been used to train AI outside of the intended purpose. Will doctors recognise these risks and take steps to inform patients? Or will technology roll on regardless?Janet MenageRetired GP, Llanybydder, Ceredigion Have an opinion on anything you've read in the Guardian today? Please email us your letter and it will be considered for publication in our letters section.
Yahoo
26-06-2025
- Health
- Yahoo
Weight loss jabs study begins after reports of pancreas issues
A study into potential serious side effects of weight loss jabs has been launched after hundreds of people reported problems with their pancreas. The Medicines and Healthcare Regulatory Agency (MHRA) and Genomics England are asking people on weight loss drugs who have been hospitalised by acute pancreatitis to get in touch. There have been hundreds of reports of acute and chronic pancreatitis from people who have taken drugs such as Mounjaro, Ozempic and Wegovy, although none are confirmed as being caused by the medicines. The aim is to "better predict those most at risk of adverse reactions", said MHRA chief safety officer Dr Alison Cave. The study is being run through the MHRA's Yellow Card scheme, which allows anyone to report an issue with a medicine, vaccine or medical device to help identify safety issues as early as possible Patients aged 18 and over, with bad reactions to the weight loss jabs - which are also licensed for type 2 diabetes - are being asked to report the detail on the Yellow Card website. They will then be asked if they would be willing to take part in the study, which will check whether some people are at a higher genetic risk of acute pancreatitis when taking these medicines. Patients will be asked to submit more information and a saliva sample, with the overall aim of reducing the occurrence of the side effects in future, says the MHRA. Cases recorded on the Yellow Card website up until 13 May this year include 10 in which patients, who were using weight loss drugs, died from the effects of pancreatitis - but it is not clear whether other factors also played a part. It is impossible to know exactly how many people in the UK are on weight loss drugs as many users obtain them online through unregulated sources, rather than through their doctors. Health officials have suggested the jabs could help turn the tide on obesity. However, they have also warned the drugs are not a silver bullet and often come with side effects, commonly including nausea, constipation and diarrhoea. And the MHRA has also warned that Mounjaro could make the oral contraceptive pill less effective for some patients. Strict rules as GPs start to prescribe weight loss jab Mounjaro How do weight loss drugs like Mounjaro and Wegovy work? Weight-loss drugs tested in head-to-head trial Dr Alison Cave, the MHRA's chief safety officer said information from the study "will help us to better predict those most at risk of adverse reactions, enabling patients across the UK to receive the safest medicine for them, based on their genetic make-up". She said evidence showed almost a third of side effects to medicines could be prevented with genetic testing. "It is predicted that adverse drug reactions could cost the NHS more than £2.2bn a year in hospital stays alone," she added. Prof Matt Brown, chief scientific officer at Genomics England, said: "GLP-1 medicines like Ozempic and Wegovy have been making headlines, but like all medicines there can be a risk of serious side effects. "We believe there is real potential to minimise these, with many adverse reactions having a genetic cause." He said the next step would be to "generate data and evidence for safer and more effective treatment through more personalised approaches to prescription, supporting a shift towards an increasingly prevention-focused healthcare system".
BBC News
26-06-2025
- Health
- BBC News
Weight loss jabs study begins after reports of pancreas issues
A study into potential serious side effects of weight loss jabs has been launched after hundreds of people reported problems with their pancreas. The Medicines and Healthcare Regulatory Agency (MHRA) and Genomics England are asking people on weight loss drugs who have been hospitalised by acute pancreatitis to get in have been hundreds of reports of acute and chronic pancreatitis from people who have taken drugs such as Mounjaro, Ozempic and Wegovy, although none are confirmed as being caused by the medicines. The aim is to "better predict those most at risk of adverse reactions", said MHRA chief safety officer Dr Alison Cave. The study is being run through the MHRA's Yellow Card scheme, which allows anyone to report an issue with a medicine, vaccine or medical device to help identify safety issues as early as aged 18 and over, with bad reactions to the weight loss jabs - which are also licensed for type 2 diabetes - are being asked to report the detail on the Yellow Card will then be asked if they would be willing to take part in the study, which will check whether some people are at a higher genetic risk of acute pancreatitis when taking these will be asked to submit more information and a saliva sample, with the overall aim of reducing the occurrence of the side effects in future, says the MHRA. Cases recorded on the Yellow Card website up until 13 May this year include 10 in which patients, who were using weight loss drugs, died from the effects of pancreatitis - but it is not clear whether other factors also played a part. It is impossible to know exactly how many people in the UK are on weight loss drugs as many users obtain them online through unregulated sources, rather than through their doctors. Health officials have suggested the jabs could help turn the tide on obesity. However, they have also warned the drugs are not a silver bullet and often come with side effects, commonly including nausea, constipation and diarrhoea. And the MHRA has also warned that Mounjaro could make the oral contraceptive pill less effective for some patients. Dr Alison Cave, the MHRA's chief safety officer said information from the study "will help us to better predict those most at risk of adverse reactions, enabling patients across the UK to receive the safest medicine for them, based on their genetic make-up". She said evidence showed almost a third of side effects to medicines could be prevented with genetic testing. "It is predicted that adverse drug reactions could cost the NHS more than £2.2bn a year in hospital stays alone," she added. Prof Matt Brown, chief scientific officer at Genomics England, said: "GLP-1 medicines like Ozempic and Wegovy have been making headlines, but like all medicines there can be a risk of serious side effects. "We believe there is real potential to minimise these, with many adverse reactions having a genetic cause."He said the next step would be to "generate data and evidence for safer and more effective treatment through more personalised approaches to prescription, supporting a shift towards an increasingly prevention-focused healthcare system".
