1. Our 'Clinical Genetics in Action' series was created in collaboration with the Royal College of Physicians. The films were initiated at a meeting of the Joint Committee on Genomics in Medicine (The British Society for Genetic Medicine, The Royal College of Pathologists and The Royal College of Physicians), with development led by Dr Kate Tatton-Brown and Dr Katherine Josephs at St George's Hospital, London. Clinical Genetics is an area of medicine that is rapidly evolving as more genomic tests are developed and we learn more and more about the links between genes and disease. The series showcases some of the many breakthroughs in genomics and how they are changing the lives of patients, whilst also highlighting some of the challenges for healthcare professionals of using genomic technologies.

    For Beskida Fejzullahu and her family, genetic testing has provided much more certainty. A type of testing known as whole exome sequencing enabled the discovery of a variant gene that is responsible for her son Arvin's health problems. The testing also allowed health professionals to determine that the variant gene was not present in her unborn child, and therefore that her second child was unlikely to be affected.

    In this film, Beskida talks about the difficulties faced by families who have no diagnosis; and tells us what having a diagnosis means for her family.

    Health Education England's Genomics Education Programme is developing a substantial education programme to inform healthcare professionals about the impact of genomics on clinical practice. This video is the one of the many educational resources from the programme.

    For more information visit genomicseducation.hee.nhs.uk

    # vimeo.com/336803720 Uploaded 144 Plays 0 Comments
  2. Our 'Clinical Genetics in Action' series was created in collaboration with the Royal College of Physicians. The films were initiated at a meeting of the Joint Committee on Genomics in Medicine (The British Society for Genetic Medicine, The Royal College of Pathologists and The Royal College of Physicians), with development led by Dr Kate Tatton-Brown and Dr Katherine Josephs at St George's Hospital, London. Clinical Genetics is an area of medicine that is rapidly evolving as more genomic tests are developed and we learn more and more about the links between genes and disease. The series showcases some of the many breakthroughs in genomics and how they are changing the lives of patients, whilst also highlighting some of the challenges for healthcare professionals of using genomic technologies.

    For Iain Emmerson, who has a genetic condition called tuberous sclerosis complex - ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#diagnosis, genetic testing and recent advances in gene-directed therapy have meant access to a new medication as part of a pilot at St George's Hospital, London. Everolimus inhibits the growth of tumours that result from this condition, and it is hoped that the drug will significantly prolong Iain's life and the lives of others who have access to it.

    Iain talks about the psychological impact of being offered everolimus after previously being told that his life expectancy didn't exceed his late 40s. He explains that the drug has given him a new lease of life and he is thankful to have been able to take part in the pilot.

    Health Education England's Genomics Education Programme is developing a substantial education programme to inform healthcare professionals about the impact of genomics on clinical practice. This video is the one of the many educational resources from the programme.
    For more information visit genomicseducation.hee.nhs.uk

    # vimeo.com/336804811 Uploaded 50 Plays 0 Comments
  3. Our 'Clinical Genetics in Action' series was created in collaboration with the Royal College of Physicians. The films were initiated at a meeting of the Joint Committee on Genomics in Medicine (The British Society for Genetic Medicine, The Royal College of Pathologists and The Royal College of Physicians), with development led by Dr Kate Tatton-Brown and Dr Katherine Josephs at St George's Hospital, London. Clinical Genetics is an area of medicine that is rapidly evolving as more genomic tests are developed and we learn more and more about the links between genes and disease. The series showcases some of the many breakthroughs in genomics and how they are changing the lives of patients, whilst also highlighting some of the challenges for healthcare professionals of using genomic technologies.

    In this film, Dr Richard Scott, Consultant Clinical Geneticist at Great Ormond Street Hospital and Clinical Lead for Rare Disease for the 100,000 Genomes Project - genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/ - discusses the complexities of interpreting genomic test results.

    Dr Scott gives an example of a case he recently worked on where a little girl had genomic testing in an attempt to find a diagnosis for her health problems. The testing discovered a rare variant in a gene called PNKP that had been reported once before in another family who had undergone whole genome sequencing.

    Dr Scott explains that given the (very limited) evidence, it was tempting to classify the variant as pathogenic (disease-causing), but that his expert team's knowledge of genomics enabled them to see that some of the girl's clinical features and her general development did not quite match with a variant in the gene in question. As a result, it was classified as a variant of uncertain significance.

    Dr Scott discusses the challenges of conveying uncertainty to families, but emphasises the importance of not being hasty when it comes to classifying variants. As his case shows, time is often needed to gather enough evidence to say wither way whether a variant is disease-causing or not. Indeed, with more time, the variant originally identified was found in healthy people and therefore determined non-pathogenic; and later tests revealed another genetic variant that the team felt confident was the real cause of the girl's condition.

    Dr Scott goes on to outline some of the potential consequences with making an incorrect diagnosis, such as unjustifiable worry in other family members and further genetic testing in search of an 'innocent' variant. The conclusion is that, though uncertainty is difficult to deal with, it is less damaging than wrongly classifying a variant as disease-causing.

    Health Education England's Genomics Education Programme is developing a substantial education programme to inform healthcare professionals about the impact of genomics on clinical practice. This video is the one of the many educational resources from the programme.

    For more information visit genomicseducation.hee.nhs.uk.

    # vimeo.com/336811697 Uploaded 66 Plays 0 Comments
  4. Our 'Clinical Genetics in Action' series was created in collaboration with the Royal College of Physicians. The films were initiated at a meeting of the Joint Committee on Genomics in Medicine (The British Society for Genetic Medicine, The Royal College of Pathologists and The Royal College of Physicians), with development led by Dr Kate Tatton-Brown and Dr Katherine Josephs at St George's Hospital, London. Clinical Genetics is an area of medicine that is rapidly evolving as more genomic tests are developed and we learn more and more about the links between genes and disease. The series showcases some of the many breakthroughs in genomics and how they are changing the lives of patients, whilst also highlighting some of the challenges for healthcare professionals of using genomic technologies.

    In this video, Dr Angela George, Consultant in Oncogenetics, outlines the importance of exercising caution when reporting genomic variants, discussing the challenge posed by variants of uncertain significance.

    Dr George describes a case where a woman came to her clinic for predictive testing on the advice of her sister, who had had testing in another country and was found to have a variant in a gene called BRCA2. The woman's sister was told that this variant was probably responsible for the breast and ovarian cancers that were prevalent in their family, and had a double mastectomy based on this advice. (She was also planning to return to hospital to have both of her ovaries removed as a risk-reducing measure). As Dr George explains, however, by UK classification, this variant was not deemed to have sufficient evidence linking it to breast and ovarian cancer, so no action would have been taken in the NHS. Then, nine months later, the variant was re-classified as non-pathogenic (non-disease-causing), meaning her patient's sister had had drastic and unnecessary surgery.

    Dr George's example drives home the importance of careful and accurate reporting, whilst showing the complexities of interpreting genomic data.

    Health Education England's Genomics Education Programme is developing a substantial education programme to inform healthcare professionals about the impact of genomics on clinical practice. This video is the one of the many educational resources from the programme.

    For more information visit genomicseducation.hee.nhs.uk

    # vimeo.com/336813135 Uploaded 67 Plays 0 Comments
  5. Our 'Clinical Genetics in Action' series was created in collaboration with the Royal College of Physicians. The films were initiated at a meeting of the Joint Committee on Genomics in Medicine (The British Society for Genetic Medicine, The Royal College of Pathologists and The Royal College of Physicians), with development led by Dr Kate Tatton-Brown and Dr Katherine Josephs at St George's Hospital, London. Clinical Genetics is an area of medicine that is rapidly evolving as more genomic tests are developed and we learn more and more about the links between genes and disease. The series showcases some of the many breakthroughs in genomics and how they are changing the lives of patients, whilst also highlighting some of the challenges for healthcare professionals of using genomic technologies.

    In this film, Dr Alison Berner, Specialist Registrar and Clinical Research Fellow in Medical Oncology, talks about exciting developments in the analysis of mutational signatures in tumour DNA.

    Dr Berner talks specifically about her research in colorectal cancer, where she is studying mutational signatures with the aim of better understanding the impact they have on the way in which these cancers develop. She gives the example of a case where genomic testing provided a useful picture of the mutational signature of an indivdual's cancer, which also enabled the detection of an inherited cancer susceptibility gene. As Dr Berner explains, this impacted treatment and management of the patient in a number of ways. First, it gave the oncology team a clearer picture of his prognosis (likely to be slightly improved despite widespread disease). Second, it opened up the possibility of immunotherapy. And third it meant that the gentleman's family would be monitored due to the heritable nature of his cancer.

    Dr Berner concludes by expressing her excitement about developments in oncology due to genomics, explaining that thare are many areas where the use of genomics is enabling progress.

    Health Education England's Genomics Education Programme is developing a substantial education programme to inform healthcare professionals about the impact of genomics on clinical practice. This video is the one of the many educational resources from the programme.

    For more information visit genomicseducation.hee.nhs.uk.

    # vimeo.com/336816796 Uploaded 101 Plays 0 Comments

Clinical Genetics in Action

Genomics Education Programme PRO

Clinical Genetics is a rapidly evolving area of medicine. This series was developed to shine a light on some of the most exciting advances and some of the challenges of working with increasingly complex genomic tests. The films were developed in collaboration…


+ More

Clinical Genetics is a rapidly evolving area of medicine. This series was developed to shine a light on some of the most exciting advances and some of the challenges of working with increasingly complex genomic tests. The films were developed in collaboration with the Royal College of Physicians, with development led by Dr Kate Tatton-Brown and Dr Katherine Josephs at St George's Hospital, London.

Browse This Channel

Shout Box

Heads up: the shoutbox will be retiring soon. It’s tired of working, and can’t wait to relax. You can still send a message to the channel owner, though!

Channels are a simple, beautiful way to showcase and watch videos. Browse more Channels.