Jump to content

Search the hub

Showing results for tags 'Medicine - Clinical genetics'.


More search options

  • Search By Tags

    Start to type the tag you want to use, then select from the list.

  • Search By Author

Content Type


Forums

  • All
    • Commissioning, service provision and innovation in health and care
    • Coronavirus (COVID-19)
    • Culture
    • Improving patient safety
    • Investigations, risk management and legal issues
    • Leadership for patient safety
    • Organisations linked to patient safety (UK and beyond)
    • Patient engagement
    • Patient safety in health and care
    • Patient Safety Learning
    • Professionalising patient safety
    • Research, data and insight
    • Miscellaneous

Categories

  • Commissioning, service provision and innovation in health and care
    • Commissioning and funding patient safety
    • Digital health and care service provision
    • Health records and plans
    • Innovation programmes in health and care
    • Climate change/sustainability
  • Coronavirus (COVID-19)
    • Blogs
    • Data, research and statistics
    • Frontline insights during the pandemic
    • Good practice and useful resources
    • Guidance
    • Mental health
    • Exit strategies
    • Patient recovery
    • Questions around Government governance
  • Culture
    • Bullying and fear
    • Good practice
    • Occupational health and safety
    • Safety culture programmes
    • Second victim
    • Speak Up Guardians
    • Staff safety
    • Whistle blowing
  • Improving patient safety
    • Clinical governance and audits
    • Design for safety
    • Disasters averted/near misses
    • Equipment and facilities
    • Error traps
    • Health inequalities
    • Human factors (improving human performance in care delivery)
    • Improving systems of care
    • Implementation of improvements
    • International development and humanitarian
    • Patient Safety Alerts
    • Safety stories
    • Stories from the front line
    • Workforce and resources
  • Investigations, risk management and legal issues
    • Investigations and complaints
    • Risk management and legal issues
  • Leadership for patient safety
    • Business case for patient safety
    • Boards
    • Clinical leadership
    • Exec teams
    • Inquiries
    • International reports
    • National/Governmental
    • Patient Safety Commissioner
    • Quality and safety reports
    • Techniques
    • Other
  • Organisations linked to patient safety (UK and beyond)
    • Government and ALB direction and guidance
    • International patient safety
    • Regulators and their regulations
  • Patient engagement
    • Consent and privacy
    • Harmed care patient pathways/post-incident pathways
    • How to engage for patient safety
    • Keeping patients safe
    • Patient-centred care
    • Patient Safety Partners
    • Patient stories
  • Patient safety in health and care
    • Care settings
    • Conditions
    • Diagnosis
    • High risk areas
    • Learning disabilities
    • Medication
    • Mental health
    • Men's health
    • Patient management
    • Social care
    • Transitions of care
    • Women's health
  • Patient Safety Learning
    • Patient Safety Learning campaigns
    • Patient Safety Learning documents
    • Patient Safety Standards
    • 2-minute Tuesdays
    • Patient Safety Learning Annual Conference 2019
    • Patient Safety Learning Annual Conference 2018
    • Patient Safety Learning Awards 2019
    • Patient Safety Learning Interviews
    • Patient Safety Learning webinars
  • Professionalising patient safety
    • Accreditation for patient safety
    • Competency framework
    • Medical students
    • Patient safety standards
    • Training & education
  • Research, data and insight
    • Data and insight
    • Research
  • Miscellaneous

News

  • News

Find results in...

Find results that contain...


Date Created

  • Start
    End

Last updated

  • Start
    End

Filter by number of...

Joined

  • Start

    End


Group


First name


Last name


Country


About me


Organisation


Role

Found 8 results
  1. 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.
  2. 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. The risks of targeting the wrong cancer Cancer patients often have to undergo rigorous, exhausting treatments and drug regimes, without achieving the improvements or remission that they seek. This is because certain therapies only work on a particular subset of cancers, based on the specific genetic mutations that the cells contain – if the cancer does not contain such mutations, the drug may be pointless. Moreover, patients who lack the mutation targeted by a drug will not only fail to benefit, but can actually be harmed by inappropriate targeted therapies.[1] Therefore, it is essential that cancer treatments are tailored to each patient’s cancer, to save not only NHS money, but personal suffering too. Biobanks and genetic profiling In the UK (and worldwide), there are many tissue biobanks that contain tumour samples for research purposes, such as the Manchester Cancer Research Centre Biobank which brings together organised tissue sample collection across four NHS Trusts under one centralised framework.[2] Biobanks provide an essential service to scientists seeking to perform research on tumour samples to discover new genetic variants or ‘biomarkers’ that could serve as targets for new cancer therapies. In 2013, Genomics England was established to deliver the 100,000 Genomes Project, which aimed to sequence 100,000 whole genomes from NHS patients with rare diseases and common cancers.[3] Tumour data from this project has been used for pan-cancer genome analysis, which looks at the complex patterns of genetic changes specific to different tumour types. In cancer, tumours accumulate genetic mutations as the cancerous cells divide, grow and, in some instances, spread to other parts of the body (metastasise). The resulting tumour cells, although all derived from the patient’s own body cells, may have a very different genetic profile to the parent cells that they originated from. Indeed, as a result of the random process of mutation, the cells of the same cancer could all be different, something called ‘tumour heterogeneity’. A study by Jones et al. in 2015 strongly suggests that cancer tumour genomes should be compared to genomes from noncancerous tissue from the patient so doctors can be sure any mutations found are unique to the cancer. Moreover, when sequenced, not only do the cells in a tumour have multiple genetic changes compared to the patient’s normal body tissue, but tumours of different organ or tissue types also differ genetically from one another – each has its own genetic ‘fingerprint’ and unique pattern of biomarkers. Cancer of the breast, for instance, will have a specific suite of genetic mutations, such as in the well-known BRCA1 and BRCA2 genes, whilst there are different mutations that are characteristic of bowel cancer, such as in the APC gene. Identifying the primary cancer Significantly, as each tumour type has its own genetic profile, it is now possible to tell whether a tumour in a particular part of the body is a primary cancer of that tissue/organ or whether it has metastatised from elsewhere. This builds on traditional oncological investigative procedures. For instance, in 2010 a woman with primary colonic adenocarcinoma discovered a mass in her breast, which upon having a biopsy did not appear colonic in origin (and colon metastases are extremely rare), but after immunohistochemical stains it was eventually revealed that the breast tumour was indeed a colon cancer.[4] Genetic sequencing of the tumour would likely have yielded a much prompter accurate diagnosis. This knowledge of what type of cancer the tumour really is means that drugs to combat it can be prescribed more accurately – and could give a more positive treatment outcome – which would not have been known unless the tumour DNA had been sequenced. Therefore, genetic profiling of a patient’s tumour is extremely important to ensure they receive the correct treatment. Precision medicine and the impact on the patient This all forms the basis of what is known as precision medicine. Precision medicine is ‘an approach to medical care in which disease prevention, diagnosis and treatment are tailored to the genes, proteins and other substances in the patient’s body’.[5] The concept of precision medicine isn’t new, but recent technological advances have meant that this area of research has progressed tremendously in the last decade. Using next generation genetic sequencing technologies, researchers have discovered that two people with the same type of cancer may not have the same mutations, which will affect how successful the cancer treatment will be. As researchers learn more about the DNA changes that drive cancer, they are better able to design promising treatments – usually small-molecule drugs or monoclonal antibodies – that target these genetic regions and proteins. Intermountain Healthcare in the US has been using the power of new genomic technology to conduct research to advance precision medicine, such as looking at the role of tumour heterogeneity and genetic evolution in cancer.[6] At present, genomic analysis isn’t routinely carried out on all cancer tumours in the UK, but as the technology becomes more available and less expensive, it is likely that it will be employed more by clinicians. Promisingly, studies have shown that precision medicine significantly improves survival for patients with advanced cancer when compared to control patients who received conventional chemotherapy, without the increasing associated costs.[7] From a patient’s perspective, it is not hard to see how precision cancer medicine will be of huge benefit. Tumour genetic profiling tells you the drugs the patient is most likely to be responsive to out of multiple possible treatments. Precision medicine saves the sufferer unnecessary pain, time, emotional energy and false hopes. For patients with advanced or metastatic cancer, which can be extremely debilitating, the genomics-based approach appears to be a more viable, and perhaps superior, option compared to standard investigations and treatments. It is, however, important to consider any potential risks to the patient of targeted therapies that are based on genetic profiling. Since the patient’s tumour is genetically sequenced to find targets for treatment, there is a slight risk to the privacy of personal information – genetic information from the patient’s health record may be obtained by people outside of the medical team, such as insurance companies, so it is very important that laws are in place to protect such data from potentially being misused. Final thoughts Precision medicine is ultimately about matching the right drugs to the right patients. Genetic profiling of tumours reveals targeted therapy options that are most likely to be effective against a patient’s specific cancer. All cancers are genetically unique as a result of the mutations they accumulate. Whether genetic profiling is used to determine the true origin of a tumour (perhaps a primary cancer that has metastasised to a completely different organ) or to reveal how one person’s breast cancer (for instance) is different to next persons, this technique allows for much more personalised treatment options than are conventional. As precision medicine is geared to the uniqueness of a patient’s own DNA profile, clinicians can create more promising treatments matched to each individual than ever before, offering hope to people in their darkest hours. Becky Tatum References: 1. Gagan, J., Van Allen, E.M. ‘Next-generation sequencing to guide cancer therapy’. Genome Medicine, 2015; 7(80). https://doi.org/10.1186/s13073-015-0203-x 2. Manchester Cancer Research Centre. (updated 2021) ‘About the MCRC Biobank’. [online] Available at: https://www.mcrc.manchester.ac.uk/research/mcrc-biobank/about-the-mcrc-biobank/ 3. Genomics England. (updated 2021) ‘About Genomics England’. [online] Available at: https://www.genomicsengland.co.uk/about-genomics-england/ 4. Shackelford, R. et al. ‘Primary Colorectal Adenocarcinoma Metastatic to the Breast: Case Report and Review of Nineteen Cases’. Case Reports in Medicine, 2011(738413). https://doi.org/10.1155/2011/738413 5. National Cancer Institute. (updated 2021) ‘Biomarker testing for cancer treatment’. [online] Available at: https://www.cancer.gov/about-cancer 6. Intermountain Healthcare. (updated 2021) ‘Precision Genomics’. [online] Available at: https://intermountainhealthcare.org/services/genomics/ 7. Nadauld, L. et al. ‘Precision medicine to improve survival without increasing costs in advanced cancer patients’. Journal of Clinical Oncology, 2015; 33(15).
  3. Content Article
    Implementation of the Swabsafe™ management system at the The Princess Grace Hospital following a never event. It happened on a Saturday, 19.30pm, in April 2012. I was the theatre coordinator. We had a 'never event' of a retained swab in a breast wound. The following week, I changed practice following audits for four weeks in eight theatres. We never looked back. Attached is the poster presented in November 2016 at the Patient First Excel conference. Until recently no one ever asked me how I felt. I knew what to do. But I felt for the surgeon. As theatre scrub practitioners we complete counts and inform the surgeon. He acknowledges the count. If later on a swab is retained, it's the surgeon who has to inform the patient and remove it. By using a system especially designed for counting swabs (see video below), we can stop never events of retained swabs and maintain safety for the patient, the consultants, perioperative staff and also the hospital. We have the technology – let's use it! Kathy showcasing the Swabsafe Management poster at the Patient First Event, Excel London.
  4. 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.
  5. 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
  6. 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
  7. 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
  8. 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
×
  • Create New...

Important Information

We have placed cookies on your device to help make this website better. You can adjust your cookie settings, otherwise we'll assume you're okay to continue.