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Found 9 results
  1. News Article
    A brand-new genetic research resource, known as a ‘biobank’, will be piloted by the Medicines and Healthcare products Regulatory Agency (MHRA) in a joint venture with Genomics England to better understand how a patient’s genetic makeup can impact the safety of their medicines. The Yellow Card biobank, which will contain genetic data and patient samples, will operate alongside the MHRA’s Yellow Card reporting site for suspected side effects and adverse incidents involving medicines and medical devices. It forms part of a long-term vision for more personalised medicine approaches, as scientists will use the repository of genetic information in the biobank to determine whether a side effect from a medicine was caused by a specific genetic trait. This will in turn enable doctors to target prescriptions using rapid screening tests, so patients across the UK will receive the safest medication for them, based on their genetic makeup. Adverse Drug Reactions (ADRs), or side effects, continue to be a significant burden on the NHS and account for one in 16 hospital admissions. Understanding the underlying mechanism of an adverse reaction would support the development of pharmacogenetic testing strategies, such as the screening tests enabled through the information provided by the Yellow Card biobank. These strategies would in turn provide the opportunity to prevent rather than react to adverse drug reactions. The biobank pilot will officially begin on 1 June 2023 with participant recruitment commencing later this year, on 1 September. Read full story Source: MHRA, 25 May 2023
  2. News Article
    Very sick babies and children will be diagnosed and start treatment more quickly thanks to a “revolutionary” new genetic testing service being launched by the NHS. Doctors will gain vital insights within as little as two days into what illnesses more than 1,000 newborns and infants a year in England have from the rapid analysis of blood tests. Until now, when doctors suspected a genetic disorder, such tests have sometimes taken weeks as they had to be done in a sequential order to rule out other possible diagnoses, delaying treatment. NHS England bosses say the service could save the lives of thousands of seriously ill children over time and will usher in “a new era of genomic medicine”. The clinical scientists, genetic technologists and bioinformaticians will carry out much faster processing of DNA samples, including saliva and other tissue samples as well as blood. They will share their findings with medical teams and patients’ families. “This global first is an incredible moment for the NHS and will be revolutionary in helping us to rapidly diagnose the illnesses of thousands of seriously ill children and babies, saving countless lives in the years to come,” said Amanda Pritchard, NHS England’s chief executive. Read full story Source: The Guardian, 12 October 2022 Further hub reading Genetic profiling and precision medicine – the future of cancer treatment
  3. News Article
    MPs will be asked this week to end the “shocking” practice of making cystic fibrosis patients in England pay prescription charges for the drugs that they need to stay alive. The condition is the nation’s most common inherited, life-threatening disease and affects more than 7,000 people. Prescription charges, first introduced in 1952, were abolished in 1965; then, when they were reintroduced in 1968, exemptions were made for those suffering from long-lasting ailments such as cancers, diabetes and epilepsy. But children with cystic fibrosis were not expected to live to adulthood and so the condition was not exempted. As a result of new medicines and the creation of special physiotherapy regimes, cystic fibrosis patients now live well into their 40s. “Medicine and society have moved on, so should the exemption list to reflect modern-day experience,” said Paul Maynard, the Conservative MP for Blackpool North and Cleveleys, who will call for an end to prescription charges for the disease at a special Commons debate on the illness this week. “As someone who has a long-term medical condition – epilepsy – it has always amazed me that adults with cystic fibrosis have to pay for their prescriptions whilst I do not.” Read full story Source: The Guardian, 30 January 2022
  4. News Article
    Geneticists 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
  5. Content Article
    In this opinion piece, Becky Tatum discusses how genetic profiling of patient's tumours can lead to more personalised cancer therapy/treatment options with better outcomes.
  6. Content Article
    Join a new study to help us understand why black men are at higher risk of prostate cancer. Prostate Cancer UK are funding the PROFILE study to help find out why black men are at higher risk of prostate cancer than other ethnic groups. The researchers are looking at the genes of healthy men at higher risk of prostate cancer, including men of African or Caribbean descent. Over five years, they’ll monitor the men for signs of developing prostate cancer, using blood tests and scans and biopsies. At the end of the study, the researchers hope to understand why certain men are more likely to get prostate cancer, and whether one day they could create tests to help spot these men earlier, based on their genes. By working towards catching prostate cancer sooner in high risk men, we can increase the chances of curing their prostate cancer. And by understanding more about why and how they develop prostate cancer, we could work towards treatments that stop this from happening. If you are a man of African or Caribbean descent aged 40-69 and haven’t had prostate cancer, you may be suitable to take part in a study that can help us understand more about the genetics of prostate cancer. Follow the link below for further information.
  7. Content Article
    Our understanding of race and human genetics has advanced considerably, yet these insights have not led to clear guidelines on the use of race in medicine. The result is ongoing conflict between the latest insights from population genetics and the clinical implementation of race. For example, despite mounting evidence that race is not a reliable proxy for genetic difference, the belief that it is has become embedded, sometimes insidiously, within medical practice. One subtle insertion of race into medicine involves diagnostic algorithms and practice guidelines that adjust or “correct” their outputs on the basis of a patient’s race or ethnicity. Physicians use these algorithms to individualise risk assessment and guide clinical decisions. By embedding race into the basic data and decisions of health care, these algorithms propagate race-based medicine. Many of these race-adjusted algorithms guide decisions in ways that may direct more attention or resources to white patients than to members of racial and ethnic minorities. To illustrate the potential dangers of such practices, Vyas et al. have compiled a partial list of race-adjusted algorithms.
  8. Content Article
    NORD’s RareEDU™ released this video, Gene Therapy: Your Questions Answered, in order to address a vital topic to today's rare disease community. The goal of this video is to address the questions, hopes and concerns that patients and caregivers, across many different diseases, have about gene therapy. Since more than 80% of rare diseases are believed to be genetic, this video serves as a helpful resource for the rare disease community.
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