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Showing results for tags 'Genomics'.
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News ArticleOver the counter genetic tests in the UK that assess the risk of cancer or heart problems fail to identify 89% of those in danger of getting killer diseases, a new study has found. Polygenic risk scores are so unreliable that they also wrongly tell one in 20 people who receive them they will develop a major illness, even though they do not go on to do so. That is the conclusion of an in-depth review of the performance of polygenic risk scores, which underpin tests on which consumers spend hundreds of pounds. The findings come amid a boom in the number of companies offering polygenic risk score tests which purport to tell customers how likely they are to get a particular disease. Academics at University College London (UCL) who undertook the research are warning that such tests are so flawed they should be regulated “to protect the public from unrealistic expectations” that they will correctly identify their risk of a particular disease. The authors concluded: “Polygenic risk scores performed poorly in population screening, individual risk prediction and population risk stratification. “Strong claims about the effect of polygenic risk scores on healthcare seem to be disproportionate to their performance.” Read full story Source: The Guardian, 17 October 2023
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Content ArticleInvestigative journalist and medical researcher Maryanne Demasi interviews Phillip Buckhaults, a cancer genomics expert and professor at the University of South Carolina. Professor Buckhaults describes how he decided to test for DNA contamination in vials of Pfizer and Moderna’s bivalent booster shots, hoping to debunk myths about contamination. However, his research revealed that billions of tiny DNA fragments are present in Pfizer’s mRNA vaccine. He highlights the need for further research to find out whether this poses any risk to people who have been given the vaccine, particularly around whether these fragments of DNA could trigger people developing cancer or autoimmune conditions.
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News Article
Thousands receive diagnosis after 60 new diseases found
Patient Safety Learning posted a news article in News
Thousands of children with severe developmental disorders have finally been given a diagnosis, in a study that found 60 new diseases. Children, and their parents, had their genetic code - or DNA - analysed in the search for answers to their condition. There are thousands of different genetic disorders. Having a diagnosis can lead to better care, help parents to decide whether to have more children, or simply provide an explanation for what is happening. The Deciphering Developmental Disorders study, conducted over 10 years in the UK and Ireland, was a collaboration between the NHS, universities and the Sanger Institute, which specialises in analysing DNA. Among the findings, researchers discovered Turnpenny-Fry syndrome. Jessica Fisher's son, Mungo - who took part in the study - was diagnosed with the syndrome. Jessica subsequently started an online support group for the syndrome, which is now made up of 36 families from around the world, including America, Brazil, Croatia and Indonesia. "It's devastating to learn that your child has a rare genetic disorder, but getting the diagnosis has been key to bringing us together," said Jessica. Read full story Source: BBC News, 13 April 2023- Posted
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Newborns to get rapid genetic disease diagnosis
Patient Safety Learning posted a news article in News
Rare genetic disorders will be diagnosed and treated in babies thanks to a project to sequence the complete DNA of 100,000 newborns. It should spare hundreds of families in England months, or years, of anguish waiting to find out why their children are ill. The project is the first time that whole genome sequencing (WGS) has been offered to healthy babies in the NHS. It will screen for around 200 disorders, all of them treatable. The Newborn Genomes Programme, to begin next year, is thought to be the biggest study of its kind in the world. If successful, it could be rolled out across the country. Owen, 9, has an extremely rare genetic condition which affects his growth and development. Called THRA-related congenital hypothyroidism, it is one of the disorders which will be included in the new genetic test. Father, Rob Everitt, told the BBC: "I think of all the hours we spent in hospital waiting rooms, getting referred around different departments, all the tests - some of which were quite invasive - that drew a blank every time. I lost count of how many doctors and consultants we went to see and how many tests they did on him." Mother, Sarah Everitt, says getting the diagnosis was life-changing: "It was like winning the lottery….because we knew there was a treatment pathway; we knew we could get him support and he could attend a mainstream school." Read full story Source: BBC News, 13 December 2022 -
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Study reveals clues to cancer causes and potential for personalised treatment
Patient Safety Learning posted a news article in News
Analysis of thousands of tumours has unveiled a treasure trove of clues about the causes of cancer, representing a significant step towards the personalisation of treatment, a study suggests. Researchers say that for the first time it is possible to detect patterns – called mutational signatures – in the DNA of cancers. These provide clues including about whether a patient has had past exposure to environmental causes of cancer such as smoking or UV light, for example. This is important as these signatures allow doctors to look at each patient’s tumour and match it to specific treatments and medications. Dr Andrea Degasperi, research associate at the University of Cambridge and first author, said: “Whole genome sequencing gives us a total picture of all the mutations that have contributed to each person’s cancer. “With thousands of mutations per cancer, we have unprecedented power to look for commonalities and differences across NHS patients, and in doing so we uncovered 58 new mutational signatures and broadened our knowledge of cancer.” The findings are now being incorporated into the NHS as researchers and clinicians now have the use of a digital tool called FitMS that will help them identify the mutational signature and potentially inform cancer management more effectively. Read full story Source: The Independent, 21 April 2022 You may also be interested to read hub blog: Genetic profiling and precision medicine – the future of cancer treatment -
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Matching drugs to DNA is 'new era of medicine'
Patient Safety Learning posted a news article in News
We have the technology to start a new era in medicine by precisely matching drugs to people's genetic code, a major report says. Some drugs are completely ineffective or become deadly because of subtle differences in how our bodies function. The British Pharmacological Society and the Royal College of Physicians say a genetic test can predict how well drugs work in your body. The tests could be available on the NHS next year. It would have helped Jane Burns, from Liverpool, who lost two-thirds of her skin when she reacted badly to a new epilepsy drug. She was put on to carbamazepine when she was 19. Two weeks later, she developed a rash and her parents took her to A&E when she had a raging fever and began hallucinating. The skin damage started the next morning. Jane told the BBC: "I remember waking up and I was just covered in blisters, it was like something out of a horror film, it was like I'd been on fire." Jane's experience may sound rare, but Prof Mark Caulfield, the president-elect of the British Pharmacological Society, said "99.5% of us have at least one change in our genome that, if we come across the wrong medicine, it will either not work or it will actually cause harm." "We need to move away from 'one drug and one dose fits all' to a more personalised approach, where patients are given the right drug at the right dose to improve the effectiveness and safety of medicines," said Prof Sir Munir Pirmohamed, from the University of Liverpool. Read full story Source: BBC News, 29 March 2022- Posted
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News ArticleGeneticists have warned the public against buying polygenic risk score analyses, which some private fertility clinics claim can help parents using in vitro fertilisation in selecting embryos that carry the least risk of future disease. It appears that at least one child has been born after such a procedure, but the use of polygenic risk score analysis in this respect is severely limited. No evidence shows that these tests can predict the likelihood of an unborn child being liable to a specific disease in the future, representatives from the European Society of Human Genetics wrote in the European Journal of Human Genetics. Polygenic risk score analysis is mainly offered by fertility clinics in the US, although the practice is also being promoted in the UK. Patients need to be properly informed on the limitations of its use and a societal debate, focused on what should be considered acceptable with regard to the selection of individual traits, should take place before any further implementation of the technique in this population. Read full story (paywalled) Source: BMJ, 26 January 2022
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Content ArticleAs part of Patient Safety Awareness Week 2020, the Royal College of Pathologists have released three videos. In these videos, trainees discuss error scenarios and how we can foster a positive culture of learning from those mistakes. Speakers include Dr Mathew Clark, Miss Laura Whitehouse and Dr Hamed Sharaf.
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Content ArticleThere are an estimated 200,000 severe adverse drug errors (ADRs) in Canada each year, though it is estimated that 95% of ADRs are not reported. They cost the Canadian healthcare system between $13.7 and $17.7 billion each year and kill up to 22,000 Canadians each year. Over 5,000 of these are Canadian children. ADR Canada is working to prevent this. This article explains the role of genomics in the solution to adverse drug reactions.
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