Podcasts about Whole genome sequencing

In this eye-opening episode of The Joe Cohen Show, Joe sits down with microbiologist and biotech entrepreneur Kiran Krishnan to dismantle the myths and marketing hype surrounding microbiome testing. Drawing parallels between the DNA and microbiome industries, they expose the scientific shortcuts, technological flaws, and misleading health claims being sold to consumers.Krishnan, the mind behind one of the few microbiome platforms used in published research, breaks down what a legitimate test looks like and why most tests on the market fall short, sometimes by as much as 70% in accuracy. The conversation also explores probiotics in depth, why strain specificity matters, and how consumers can make more informed decisions when navigating this complex and evolving space.Whether you're a health professional or someone trying to optimize your gut, this episode will help you separate science from sales.

In this episode of the EMJ Podcast, Jonathan Sackier sits down with Jose Alexander, Clinical Microbiologist and Director of Microbiology at AdventHealth Orlando, to explore the cutting edge of infectious disease diagnostics. From next-generation sequencing to rapid tests for brain-eating amoeba, Alexander shares insights into the latest innovations shaping the field, the fight against antimicrobial resistance, and the future of microbiology diagnostics. Timestamps: 00:00 – Introduction 03:55 – Alexander's introduction to microbiology 05:42 – Developing a rapid test for a brain-eating amoeba 09:40 – Where is this amoeba found? 12:13 – Next-generation sequencing in infectious disease 14:36 – Streptococcus pneumoniae serotype/genotype service 17:06 – Vaccine hesitancy 19:03 – Antimicrobial resistance 22:02 – The discovery of a novel variant of Klebsiella pneumoniae 24:32 – The clinical use of bacteriophages 27:01 – The future of the field 28:41 – Alexander's three wishes for healthcare

Is the genetics industry full of BS? Joe Cohen sits down with Dr. Puya Yazdi, co-founder of SelfDecode, to expose the real science behind genetic testing, polygenic risk scores, and why most DNA reports are giving you half-truths (or worse—total garbage).If you care about your health, longevity, and actually understanding what your genes say about you, this episode is a must-listen. Buckle up—this one's a game-changer.- Check out SelfDecode: https://selfdecode.com/- Join Joe's online community: https://thejoecohenshow.com/

In this explainer episode, we've asked Katrina Stone, Clinical Genetics Doctor, and Clinical Fellow at Genomics England, to explain what happens when you go for whole genome sequencing for a rare condition. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you've got any questions, or have any other topics you'd like us to explain, feel free to contact us on info@genomicsengland.co.uk. You can download the transcript or read it below. Florence: What happens when I go for whole genome sequencing? I'm joined by Katrina Stone, Clinical Genetics Doctor, to find out more. So, Katrina, first things first. What is the purpose of whole genome sequencing?   Katrina: The purpose of whole genome sequencing is to try to make a precise genetic diagnosis for someone with a suspected or confirmed genetic condition.  Florence: And why might someone get whole genome sequencing?   Katrina: They might get whole genome sequencing because they are known to have a condition which is likely to be genetic, but the medical team wants to find out what the exact genetic cause is. In other cases, the diagnosis might not be known, and the reason for doing whole genome sequencing is to find out whether there is a genetic condition present.  Some of the benefits of having the test is that. If a condition is identified, this can provide an explanation for the family about what's been going on, and it can also bring to an end further unnecessary investigations. Also, if a genetic diagnosis is confirmed, this can sometimes point towards other things which might need to be kept an eye on for the individual.  In addition, once a diagnosis is confirmed, a doctor can advise the family on the likelihood of other members of the family or future children being affected with the same condition, and they can use this information to help with future family planning.  Florence: So, then what happens when a person physically goes to get the test?   Katrina: In most cases, an individual will see a specialist doctor. This might be a genetics doctor, but it could be a doctor specialising in another body system. They'll do a full assessment of the individual, including finding out lots of information about them and their family, and also examining them to look for any clues that might point towards a specific genetic diagnosis.  Once the family have decided to go ahead with the test, their consent will be taken, where the test will be explained in more detail, including the pros and cons of going ahead with the test and after that samples can be taken. Usually this is a blood sample, but occasionally a saliva sample or cheek swab could be taken.  The best way to perform whole genome sequencing is with a sample from the person being tested along with both of their parents. And the reason for this is that it makes it easier to separate out genetic changes that are more likely to be significant from those that just represent harmless genetic variation what makes us all unique.  Florence: What happens to this sample after the test has taken place?   Katrina: So, the blood samples will go to a genetics lab where the genetic material known as DNA is extracted. The DNA is then sequenced, so we get an electronic file of all their genetic information. This is then analysed firstly by a computer which picks out changes or variants in their DNA, which are more likely to be significant.  After this, a trained clinical scientist analyses the data in detail. Sometimes there isn't a clear-cut result, and the scientists might need help from others and interpreting the result, but if there is, they can create a report which details the likely diagnosis.  Florence: And finally, how will the patient get the result from their whole genome sequencing test?  Katrina: Usually, the result is fed back to the patient and their family by the clinician who arranged their testing or one of their close colleagues. It's important to note that not everyone will get a genetic diagnosis from the test. This doesn't necessarily mean there isn't a genetic diagnosis present.  There are several reasons why tests might be negative. One is that no test is perfect and something important might have been missed because of the way the test works. Or it may be that the person being tested has a change in a gene that hasn't been described as causing a disease before, so we wouldn't even know to look for it.  There's also a possibility that there isn't a single genetic cause for their symptoms. Rather, lots of minor genetic factors are causing their condition. We're not very good at testing for these yet. Finally, there could be a non-genetic cause that just hasn't been identified yet.  One of the benefits of having a whole genome sequencing test is that the data can be stored and looked at again in the future, either in light of new evidence or once our knowledge of genetics has improved.  Florence: That was Katrina Stone explaining what happens when you get whole genome sequencing. If you'd like to hear more explainer episodes like this, you can find them on our website at www.genomicsengland.co.uk.  Thank you for listening.

Imagine if you could know years in advance that you're at risk for a certain illness. What if you had access to the tools and information to take action now to prevent it? In episode 209 of Eat Move Think, Dr. Peter Nord, Medcan's Chief Medical Officer, explores this topic.  Tune in to hear Dr. Nord explain: The role of genetics in predicting future health Medical advances that can help identify early risk factors and indicators What steps you can take now to improve your health into your later years What You Can Do Medcan's Annual Health Assessment is a critical first step to understanding your current health and risk factors. It consists of up to 15 screenings including the hs-Troponin test. For those who would like to take a deeper look at their genetic information, we offer our Enhanced Genetics Screening services including Whole Genome Sequencing. Learn More Annual Health Assessment: medcan.com/assess Enhanced Genetics Screening: medcan.com/genetics  

Send us a textExpanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.Ziegler A, Koval-Burt C, Kay DM, Suchy SF, Begtrup A, Langley KG, Hernan R, Amendola LM, Boyd BM, Bradley J, Brandt T, Cohen LL, Coffey AJ, Devaney JM, Dygulska B, Friedman B, Fuleihan RL, Gyimah A, Hahn S, Hofherr S, Hruska KS, Hu Z, Jeanne M, Jin G, Johnson DA, Kavus H, Leibel RL, Lobritto SJ, McGee S, Milner JD, McWalter K, Monaghan KG, Orange JS, Pimentel Soler N, Quevedo Y, Ratner S, Retterer K, Shah A, Shapiro N, Sicko RJ, Silver ES, Strom S, Torene RI, Williams O, Ustach VD, Wynn J, Taft RJ, Kruszka P, Caggana M, Chung WK.JAMA. 2024 Oct 24:e2419662. doi: 10.1001/jama.2024.19662. Online ahead of print.PMID: 39446378As always, feel free to send us questions, comments, or suggestions to our email: nicupodcast@gmail.com. You can also contact the show through Instagram or Twitter, @nicupodcast. Or contact Ben and Daphna directly via their Twitter profiles: @drnicu and @doctordaphnamd. The papers discussed in today's episode are listed and timestamped on the webpage linked below. Enjoy!

Medcan's Director of Clinical Innovation, Allison Hazell, speaks with Jessica Gu, Medcan's Clinical Director of Genetics, about the ApoE gene and its connection to longevity, cardiovascular disease, and Alzheimer's disease. They explore how ApoE variants, including E2, E3, and E4, impact your health, and discuss how genetic testing, including whole genome sequencing, can help you understand your risk for these conditions.  Tune in to learn how lifestyle changes can influence genetic risk factors and how you can use this information to lead a healthier, longer life. What You Can Do To help you understand your personal genetic insights, Medcan offers a suite of enhanced genetics screening options, including Whole Genome Sequencing. With DNA testing of over 4,000 genes, you will receive a comprehensive view of your potential genetic risks. A Medcan certified genetic counsellor and a medical geneticist will provide clinical guidance to support evidence-based decisions to improve your health.  To learn more about our enhanced genetics screenings including Whole Genome Sequencing, and to request an appointment with one of Medcan's genetic counsellors, visit medcan.com/genetics.  

Only known to us since 2008, Candida auris is an emerging fungal pathogen spreading quickly around the world; alarmingly, it is most commonly found in healthcare settings. C. auris sets itself apart from other Candida species with its unique tolerance to high saline and temperature environments and propensity to develop antifungal resistances that promote its survival in hospitals and healthcare facilities. Hosts Emily McDonald and Navaneeth Narayanan are joined by fungal experts Dr. Jeffrey Rybak (St. Jude, Memphis TN) and Dr. Graham Snyder (UPMC, Pittsburgh PA) on their quest to better understand C. auris infections, the clinical challenges and knowledge gaps in C. auris research and discuss measures for prevention and containment on the levels of both the patient and the institution. The recent emergence of C. auris as a multidrug-resistant nosocomial pathogen and its global prevalence has raised more questions than answers. Why now? Why healthcare facilities? Does climate change play a role? Are humans to blame? Tune in to find out what the experts have to say on these questions, and stay to learn about the current therapies available, what is in the antifungal pipeline and how to approach treatment from a stewardship standpoint.This episode was produced by Angela Huttner, edited by Kathryn Hostettler and peer-reviewed by Dr. Claudio Neidhöfer of University Hospital Bonn, Germany.LiteratureSatoh K, Makimura K, Hasumi Y, et al. Candida auris sp. nov., a novel ascomycetous yeast isolated from the external ear canal of an inpatient in a Japanese hospital. Microbiol Immunol. 2009 Jan;53(1):41-4. doi: 10.1111/j.1348-0421.2008.00083.xLee WG, Shin JH, Uh Y, et al. First three reported cases of nosocomial fungemia caused by Candida auris. J Clin Microbiol. 2011 Sep;49(9):3139-42. doi: 10.1128/JCM.00319-11Pfaller MA, Diekema DJ, Turnidge JD, et al. Twenty Years of the SENTRY Antifungal Surveillance Program: Results for Candida Species From 1997–2016. OFID. 2019 March;6(S1): S79–S94. doi: 10.1093/ofid/ofy358Lockhart SR, Etienne KA, Vallabhaneni S, et al. Simultaneous Emergence of Multidrug-Resistant Candida auris on 3 Continents Confirmed by Whole-Genome Sequencing and Epidemiological Analyses. Clin Infect Dis. 2017 Jan 15;64(2):134-140. doi: 10.1093/cid/ciw691.Clancy CJ, Nguyen MH. Emergence of Candida auris: An International Call to Arms. Clin Infect Dis. 2017 Jan 15;64(2):141-143. doi: 10.1093/cid/ciw696Rybak JM, Cuomo CA, Rogers PD. The molecular and genetic basis of antifungal resistance in the emerging fungal pathogen Candida auris. Curr Opin Microbiol. 2022 Dec;70:102208. doi: 10.1016/j.mib.2022.102208 

Genetic testing is a useful tool for any practising neurologist, but they must know how to interpret the results. This Editors' Choice podcast features two experts on the subject, Prof. Mary Reilly¹ and Dr. Christopher Record¹. They're in the studio to talk through their paper, covering the technology of genome sequencing itself, testing strategies, clinical use cases, and the constant changes in this developing field. Read the paper: Lessons and pitfalls of whole genome sequencing 1. Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK Please subscribe to the Practical Neurology podcast on your favourite platform to get the latest episodes. If you enjoy our podcast, you can leave us a review or a comment on Apple Podcasts (https://apple.co/3vVPClm) or Spotify (https://spoti.fi/4baxjsQ). We'd love to hear your feedback on social media - @PracticalNeurol. This episode was hosted by PN's podcast editor Dr. Amy Ross Russell. Production by Letícia Amorim, Brian O'Toole, and Amy Ross Russell. Editing by Brian O'Toole.

ONCE UPON A GENE - EPISODE 233 Are You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome Sequencing LINKS AND RESOURCES MENTIONED Project Findout https://projectfindout.org/ CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

Dr. Anmol Kapoor is an experienced Cardiologist, Entrepreneur, Philanthropist, Humanitarian, Innovator, and founder of many successful healthcare ventures. His interests are in Artificial Intelligence, Genomics, Blockchain technologies. In medicine, his interests are in primary and secondary prevention of cardiac diseases, vascular medicine, epidemiology, heart failure, genomics, women's health and health initiatives in visible minorities. He completed medical school in Russia and gained technical knowledge in the management of information systems at the University of Lethbridge. Strong healthcare services professional with a Internal Medicine residency at the University of Alberta and completed Cardiology residency at the University of Manitoba. He mastered Carotid Ultrasounds at the Cleveland Clinic. He is an author, a public speaker and an International award winner for his work in the field of improving healthcare outcomes in vulnerable minorities and women. Dr. Anmol Kapoor also founded BioAro, a biotechnology company specializing in genomics, artificial intelligence and blockchain technologies. BioAro offers Whole Genome Sequencing, Microbiome testing, and software solutions. Entrepreneurs are the backbone of Canada's economy. To support Canada's businesses, subscribe to our YouTube channel and follow us on Facebook, Instagram, LinkedIn and Twitter. Want to stay up-to-date on the latest #entrepreneur podcasts and news? Subscribe to our bi-weekly newsletter

In this episode of the Medicine Grand Rounders, Dr. Alsadah takes a deep dive into the world of medical genetics and the utility of whole genome sequencing as a model of care.

In this podcast, I talk about how we've developed an accurate, user friendly and cost effective whole genome sequencing tool using Oxford Nanopore Technologies' MinION device for diagnosing drug-resistant tuberculosis in resource constrained settings. All my posts have links to online resources that you might find useful, and ⁠you can find the link to this particular blog here⁠⁠⁠.

This episode of the CBIA BizCast is the second of a two-part discussion on a key issue in Connecticut and across the country—whole genome sequencing. In this episode Paul Pescatello, CBIA senior counsel and executive director of the Connecticut Bioscience Growth Council speaks with Dr. Adam Matson and Dr. Louisa Kalsner from Connecticut Children's. Dr. Matson is a neonatologist and lead researcher for Genomic Sequencing in the neonatal and pediatric population at the hospital. And Dr. Kalsner is the division head for Genetics. Doctors Mtson and Kalsner highlight the importance of whole genome sequencing in both research and clinical settings. They also discuss the technology's future and its value to patients, caregivers, and families. Please click here for part one of our discussion on whole genome sequencing with Alexion Pharmaceuticals, Inc.'s Dr. Tom Defay: https://www.cbia.com/news/issues-policies/cbia-bizcast-whole-genome-sequencing

This episode of the CBIA BizCast is part one of a two-part discussion on a key issue in Connecticut and across the country— whole genome sequencing. In this episode Paul Pescatello, CBIA senior counsel and executive director of the Connecticut Bioscience Growth Council speaks with Dr. Tom Defay. Defay is a computational biologist and Deputy Head Diagnostics Strategy & Development at New Haven-based Alexion Pharmaceuticals, Inc. He details how the technology is valuable to patients for early diagnosis and treatment, and a cost saver for our healthcare system. This legislative session a bill to promote expansion of whole genome sequencing, HB 5367, An Act Concerning Medicaid Coverage of Rapid Whole Genome Sequencing for Critically Ill Patients, is before the Connecticut General Assembly. This is important legislation and it is strongly supported by the CBIA Bioscience Growth Council.

In today's episode, I speak with Dr. Kamal Obbad, the co-founder of Nebula Genomics. Kamal is a Harvard and Gates-Cambridge Scholar with research experience at Google. Recognizing a gap in the consumer market for Whole Genome Sequencing (WGS), he co-founded Nebula Genomics to democratize access to comprehensive genomic data. Kamal aims to make personal genomics mainstream and accessible. We chat about the significance of whole genome sequencing and its potential to improve health and wellness. Kamal gives us a lesson on what the genome is, the importance of studying the whole genome sequence for health optimization, and why it has previously been so cost prohibitive to secure whole genome sequencing. In this episode you will learn:- Understand the concept of personal genomics and its potential impact on health and wellness.- Learn about the difference between whole genome sequencing and other genetic tests.- Gain knowledge about the complexity of DNA and the importance of non-coding regions in genetic analysis.- Recognize the limitations and concerns associated with genetic testing and the need for genetic counseling.- Explore the future possibilities of DNA sequencing and its role in personalized medicineLearn more about Nebula Genomics and Kamal's work: nebula.org

On this episode of The ICHE Podcast, Editor-in-Chief, David Calfee, MD, MS is joined by an esteemed panel to talk about whole genome sequencing in infection prevention and control programs. Guests on today's episode are Andie Lee, MBBS, Sebastiaan Van Hal, PhD, Graham Snyder, MD, MS, Alexander J. Sundermann, DrPH, CIC, and Waleed Javaid, MD. Listen as they discuss whole genome sequencing and molecular typing, resources needs for whole genome sequencing, other molecular/genetic typing methods, how whole genome sequencing can be used in infection prevention and surveillance, current knowledge gaps, and key considerations to keep in mind when thinking about how and when to bring whole genome sequencing into an IP&C program. After listening, be sure to visit cambridge.org/iche to read the full articles featured in today's episode.

In which Kamal Obbad, co-founder and CEO of Nebula Genomics, shares his journey founding one of the largest consumer whole genome sequencing services. He also discusses trends in the consumer genomics landscape, the future of genomics research, and the implications of social and technological innovations on genetic privacy. Hosted by Kevin Xu.

In this instalment of The G Word, our guests engage in a compelling discussion centred around a recently published paper that supports the integration of whole genome sequencing into standard cancer care.  Our guests shed light on the transformative potential of combining health data with whole genome data. Discover how this innovative approach empowers doctors to deliver more personalised and effective care. Our guests delve into the findings of a landmark national study, unravelling the significance of identifying inherited cancers for patients and their families. The episode explores not only the scientific advancements but also the real-world impact on individuals facing a cancer diagnosis.  Our host Naimah Callachand is joined by Dr Nirupa Murugaesu, a Consultant in medical oncology at Guy's and St Thomas' NHS Foundation Trust, and the Principal Clinician for Cancer Genomics and Clinical Studies at Genomics England.  And by Professor Sir Mark Caulfield, a Professor of Clinical Pharmacology at Queen Mary University of London, and who previously served as Chief Scientist for Genomics England and was instrumental in the delivery of the 100,000 Genomes Project.    "In cancer we were sequencing sections of the tumour and comparing them to DNA inherited from your mum and dad, and that comparison allows us to work out what is driving the cancer, what may be affecting its potential for treatment and how we might choose treatments for patients.  So this is a real opportunity to create precision cancer care."     You can read the transcript below or download it here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Whole-genome-sequencing-in-cancer-care.docx   Naimah: Welcome to the G Word.  What does it mean if we can test for inherited genes?    Nirupa: It can influence how their cancer is treated.  So it means that there may be certain types of therapy that are available if they have a specific inherited cancer gene, number one.  It also can impact in terms of preventing further or other cancers related to those genes, and it may impact the type of surgery they have, and also the type of overall cancer treatment.  And then finally, if they have got an inherited cancer, then, as I mentioned before, it may impact in terms of testing and screening for their family members.  Naimah: I'm your host Naimah: Callachand.  Today, I'm delighted to be joined by Dr Nirupa Murugaesu, who's a consultant in medical oncology at Guy's and St Thomas' NHS Foundation Trust, and the principal clinician for cancer genomics and clinical studies here at Genomics England.  And Professor Sir Mark Caufield, who's a Professor of Clinical Pharmacology at Queen Mary University of London, and who previously served as chief scientist for Genomics England and was instrumental in the delivery of the 100,000 genomes project.  Today, Mark and Nirupa are going to discuss key findings from a recent paper that's just been published in Nature.  If you enjoy today's podcast, we'd really love your support.  Please like, share and rate us on wherever you listen to your podcasts.  Now, let's get into the interview.  So first of all, Mark, I wondered if you could give me a bit of background on the 100,000 genomes project?  Mark: So the 100,000 genomes project started in July 2013 following an announcement by the then prime minister, David Cameron, that the UK would be the first health system in the world to sequence 100,000 whole genomes, which is as much as you and I can read of the genetic code.  In the case of cancer, which we focused on here, in cancer we were sequencing sections of the tumour and comparing them to DNA inherited from your mum and dad, and that comparison allows us to work out what is driving the cancer, what may be affecting its potential for treatment and how we might choose treatments for patients.  So this is a real opportunity to create precision cancer care.  Naimah: And Nirupa, can you tell me what the 100,000 genomes project meant for these patients with cancer?   Nirupa: I think, firstly, we're very grateful for all of the participants in the programme, because what it's allowed us to do is to look at the data as a whole, and having all of that sequencing data alongside clinical information has been incredibly valuable, it has also developed the infrastructure for testing.  And really I think for patients with cancer, they participated in this programme as a research project, and unusually for a research project these results were returned back to treating clinicians to clinical teams, if there may have been a result that would impact or change their management.  But I think, importantly, what it enabled is the implementation of standardised cancer testing in the NHS, and really enabling that for a wider range of patients, not just those that participated in the project.  And because of patients participating, this then allowed all of the data to be stored in a single place, and this has been incredibly valuable for clinical academics and researchers.    Naimah: And can I ask what specific types of cancer that were looked at in 100,000 genomes project?   Nirupa: Again, the project was set up such that we allowed a number of different types of cancers to be sequenced and, therefore, very permissible, because we also wanted to ensure that some of the less common and rarer cancers were also sequenced and, as you would expect, more of the common cancers as well.  In addition, I think the opportunity to sequence paediatric cancers, as well as haematological malignancies, or blood cancers, was also key as part of the cancer programme.  Here, we focus on the solid cancers, but obviously there was a much wider range of cancers that were sequenced.    Naimah: And next, can we move on to talk about the findings of the study?  Nirupa: I think, firstly, by undertaking sort of a pan-cancer analysis, it really gave us an overview of the number of target and genes that were found to be actionable.  And what I mean by that is that they have a, well, clinically relevant, and we can see that in certain cancer types, such as in brain cancers, in colon cancers, lung cancers, there were within the genome sequence more than 50% of these cancers had something that was what we would call actionable.  So there was a mutation in a gene for which this would influence treatment.  And as we started to look more across the entire cohort of patients, you can really get an idea of the fact that the more that we sequence, and the more comprehensive the testing is, the number of different types of mutations that we were able to discover.     Naimah: And when you mentioned that these findings were actionable, what does that mean?  Nirupa: So what that means is that has an impact in how the patient will be managed and treated.  It may influence, firstly, the type of surgery they have, it may influence the type of cancer treatment that they receive.  And all of this, I suppose, comes back to the point that Mark mentioned, of precision oncology, so we more precisely treat patients based on their individual cancers.     Naimah: And could you give me some examples of maybe some of these genes that were found in the study that were actionable?  Nirupa: Yes, so the types of genes also matter, or the type of mutations.  So some of them were in known cancer genes, and if you have, for example, a mutation in lung cancer, in a gene called the EGFR gene, we know that there are cancer therapies that can be provided that target specifically this mutation.  So that's one example, and this is quite well characterised and understood in oncology care.  But what we were also able to do with whole genome sequencing, is identify different types of mutations that are harder to characterise routinely.  And these are often included things that we call pan-genomic markers, where we can see what the mutational landscape is of the cancer, the different patterns of mutations can be gleaned from this, and often this can then give you an idea of the underlying biology of the cancer.  But importantly, in certain types of cancers, such as high grade serious ovarian cancer, it highlights which patients may have a particular marker that means they may or may not benefit from a particular type of therapy.  So in this particular case, the class of therapy is called PARP inhibitors.  Naimah: And how did the study compare to other similar stuff studies in the genomics area?  Nirupa: That's a really good question, and I think we looked at this from other large sequencing endeavours, such as the ICGC, TCGA, so these are big studies where have been whole genomes sequencing.  Also within the Hartwig Institute in the Netherlands, they've also undertaken whole genome sequencing for cancer patients.  And what we were able to identify is that the patterns of mutations were as expected, we found, you know, a lot of similarities.  I think the difference, the main difference is not just identifying the type of mutations across the different cancers.  But the fact that we were then able to look at the longitudinal outcome, and correlate some of these genomic markers with outcomes related to both therapies, as well as survival impact of having certain mutations in terms of prognosis.    Naimah: Mark, do you have something you'd like to add there as well?  Mark: Yeah.  So one of the things that we did in the 100,000 genomes project, was to evaluate the best way of measuring the whole of your or my genetic code.  And we discovered that very early on that if you expose the tumour to a preservative, which is called formalin which keeps the tumour preserved, that actually you could get quite a number of misleading findings.  And so to address that, the distinctiveness from former programmes, such as Nirupa mentioned, like the Cancer Genome Atlas, is that all of the tumours that we studied in this paper were actually produced under fresh tissue conditions, and have not been exposed to a preservative.  And that means that what we have is a really accurate reflection of the variation within the tumours.  And the other thing about this particular resource is it's the biggest resource.  We were able to look at 13,000 people with solid tumours, but we also had blood cancers and other cancers which also feature of this paper.    And a further remarkable thing about this is early on, Nirupa and the team and I decided that we would longitudinally life-course follow the patients and by accruing data from multiple sources in the health system.  So, every attendance at the hospital, what chemotherapy was had, we've been able in this paper to recapitulate signatures that clearly show that certain mutations are harmful.  And many of the findings that we've made are absolutely, if you look at the survival of patients particularly, you can see almost identical patterns to those in clinical trials.  What this means is that by the really rich data set which is now many billions of clinical data points on these patients, we can actually look for long-term signals of benefit and harm that perhaps would not be detected by a clinical trial that might last for six months or a year.  So this is a really valuable resource, and the really great thing is we can use what's called real-world data, which is where we take routine health data, and we can recapitulate the findings from tightly controlled clinical trials.  And I think that's quite an important finding.    Naimah: That kind of brings me onto the next question, Mark, where I want to talk about the value and benefit of genomics sequencing for cancer patients.  I wondered if you could expand?  Mark: Well, what we know from one of the genomics medicine centres which were regional hubs, is that they use the information that we return, that Nirupa outlined earlier in a report, for 25% of their patients.  Which means that they concluded having evaluated that as the clinical team locally, that there was something the patients could benefit from.  Now, what we think is this makes the case for certain cancers being part of the national genomics test directory whole genome sequencing, but it's still the case that the majority of testing for cancer is now very large focused panels that are focused on specific gene features.  But in some measure, this work is also able to reassure us that those gene features are the right ones to focus on, so this work has been very useful in that respect, even where the NHS today cannot make the financial or clinical case for using whole genomes in specific cancers.  So I think the programme's made a massive difference.    The biggest thing it's done for patients, which Nirupa was very actively involved in, is it's allowed us to create a national genomics test directory.  So when we started this, cancer genomic testing was completely random and would vary from one postcode to another, one hospital to another.  And what Nirupa and the cancer team created is a national cancer genomic test directory, which now means that standard of care, that's the basis for reimbursement, and it's available across the landscape of 56 million people.  And given that one in two of us will have cancer, this is a massive advance.    Naimah: Yeah, you've really highlighted the impact of having access to such a large database.  And I just wanted to ask as well, what are the challenges associated with implementing routine whole genome sequencing into clinical care?  Nirupa: I think as with all of these things when implementing something new within a healthcare system, it requires a level of education, upskilling and also, as Mark has touched on, how we handle the tumour tissue, so that it's handled in a genomic-friendly way to enable the best results if you like, because we want to ensure that their DNA is not damaged so that we can get accurate read-outs on the results.  So there are challenges and there is also cost implications in weighing up the pros and cons.  And I think what we were able to show, and by undertaking this sort of pan-cancer analysis, is where there are those cancer type where there is a real need for whole genome sequencing, or where it can be justified, because there are a number of different types of mutations both within the tumour.  And also from a blood sample that is also taken, so this is your constitutional DNA, so this is if there is a risk of an inherited cancer.  So we are able to pull together all of this information, and obviously that's important, not just for the patient, and their management, but also for family members.  So I think really what this shows is that where you have to identify many of these different types of mutations, whole genome sequencing enables that through a single test.   Naimah: Mark, would you like to add something else there?  Mark: One thing I think which Nirupa's very much part of, is the distinctiveness of the Genomics England approach has been to involve the NHS at every stage.  Now, what that means is we estimate that at the peak of the 100,000 genomes project, 5,000 frontline NHS staff touched the project at some point in their working week.  What that does mean is that Nirupa and the cancer team could realign the cancer tissue handling pathways.  But it also meant that we were able to upskill the frontline workforce, such that at the end of the programme, when we produced a genomic test directory, they were really up for it because they did not want all the hard work they'd put in to stop.  And so what we've done is produce the national test directory within five years of starting, that wasn't a deliverable for the project, but it was nonetheless obvious to all of us working in it, including NHS England, that there needed to be service transformation, and we've managed to effect it.    Now, if you look at other settings where perhaps Nirupa and I might have a research team, we might do it some distance from the health system, it would be in the health system, but not with the health system, then it takes between nine and 16 years to get these things into clinical practice.  And that was achieved here in five years.  So there is a lesson from this, the cancer programme particularly, because the cancer programme testing was very limited when we started, but you can take an entire workforce on a journey and leave them with the legacy of an entirely transformed system for patients.  And thankfully because we got, Nirupa and I, the NHS to agree to reimburse for the testing directory being used, we have eliminated a lot of randomness that was in the system previously.  So it's quite an important advance in that respect, and it really does show in the beautiful work that Nirupa was describing exactly how you can use this information to change an entire system.  And the NHS is not the easiest system to change in the world.  Naimah: Nirupa, you mentioned the findings show that there was potentially inherited genes.  Can you tell me what does that really mean for patients, if we're able to diagnose these inherited genes sooner in life?  Nirupa: It can influence how their cancer is treated, so it means that there may be certain types of therapy that are available if they have a specific inherited cancer gene, number one.  It also, can impact in terms of preventing further or other cancers related to those genes, and it may impact the type of surgery they have, and also the type of overall cancer treatment.  And then, finally, if they have got an inherited cancer, then, as I mentioned before, it may impact in terms of testing and screening for their family members.  And that's really key as well, because this means that their cancer can be diagnosed, if they do develop a cancer, because they're being monitored, because it's much more targeted, their approach in terms of screening for a particular type of cancer, they can potentially have their cancer treated much earlier.  Or even better, before it becomes what we call an invasive cancer but at the pre-cancerous stage.  So this has huge implications, and what we're finding actually with more and more testing – and this is not just... our study was consistent with other studies that have been published – is that when you undertake more routine testing, then you are able to identify this.  It is not common amongst the population, but in those patients where it is relevant, it really can impact their care.  Naimah: Mark, do you have something to add there?  Mark: Well, I think Nirupa's just highlighted a really important point.  So to bring that into a little bit more ways of which people listening to this can relate to it, we have a family where there was a women who had no family history of breast cancer, she developed breast cancer, and in the tumour we found that she had a BRCA 2 mutation.  We also found that she'd probably acquired that or inherited it, we don't know.  That for her meant that she could enter the Olympia trial, which was running at the time, which Nirupa alluded to earlier, was a study of PARP inhibitors.  But without that genetic makeup she'd never have got into that trial, and she probably wouldn't have been tested for BRCA at that time in the NHS because she had no family history, I think that's probably right, Nirupa.    And then there was a family-wide consequence for that, because she had a brother and son, and she also had a daughter, and the daughter was under 30 at the time and underwent BRCA testing and was BRCA 2 positive.  But she has the opportunity now to enter intensive breast screening from the age of 30, and that's what's happened.  And her brother, and this is the lady who had the breast cancer, her brother and her son may be at risk of prostate cancer, so they can consider testing.  So Nirupa makes a really important point, that when people have inherited a previous disposition to cancer, that can have a family-wide impact.  And one test in one family member can open the doors to opportunity for others to understand their risk and to be screened more actively and intensively, hopefully with meaning that if they do develop cancer it will be detected very early, or maybe we can just prevent it altogether.     Naimah: Thanks, Mark, a really good example of the impact that this testing has had.  I just wanted to touch back on your point, Mark, that you'd made about real-world data.  And I wondered actually, Nirupa, if you could kind of explain to me why it's important to link real-world data to the genomic data?  Nirupa: Yeah.  So I think the work we've done here really does emphasise this, because when we refer to real-world data, we're talking about different types of healthcare data across the population.  And we had the opportunity to link the genomic data to a number of key data sets that are curated by the cancer registry, the national cancer registry database.  And this includes things like all of the population base systemic anti-cancer therapy, so we know that for each of the participants the type of cancer therapy they receive, and also, as Mark has mentioned previously, the hospital episode.  So when patients needed to be... we can see their data in terms of admissions, investigations, and so on.  And these are really valuable data points, because you get an indication of when patients may have had to then have further testing, or if there is a risk of recurrence and importantly survival data, because a lot of this has been, in terms of a lot of the cancer genes have been well characterised and tested.    But what we were able to do here at a pan-cancer level on a large cohort of patients over a period of time, is to look at if you had a particular mutation, what is the impact of that in terms of outcome for a particular cancer type, and even more broadly, on a pan-cancer level?  And actually, as this type of data accumulates, I think the real value, and if you've got a larger number, you know, what is the value for patients who've participated in this programme going forwards, is that as that data accumulates and the numbers go up, we are able to then ask more detailed questions.  What is the impact of a particular type of mutation, or a particular type of variant within a gene?  And, importantly, what happens when you get a different sequence or a combination of genes?  And how does that impact?  And this, I feel, is the way that we are going to move more towards precision oncology, because we are beginning to understand the cancer in more detail, how it is going to behave, and then try and tailor therapies accordingly.   Naimah: And Nirupa, I wondered if you could tell me as well if the findings from this study have benefited directly those patients that were involved in the 100,000 genome project?  Nirupa: It has benefited some of the patients because, as Mark has mentioned, there are findings that we weren't expecting in terms of potentially inherited cancers and, therefore, this has had implications.  The way that the project was set up from the outset, is that we were obtaining tumour samples from patients who had not received any previous cancer therapy.  And what this meant is that this was predominantly in patients, so they were treatment naïve with early stage disease that were having surgery to treat their cancers.  And as such, what we know is that fortunately most of those patients did not require further therapy, because their cancers were treated successfully with surgery.  But what it did tell us, and what it's really highlighted, is the number of important genes that were identified.  And so whilst it may not have impacted patients directly, it's enabled us to study the biology of the different types of cancers, how they behave, along with the longitudinal clinical data.    But what it is doing now, is through the national test directory through the genomic medicine service, is enabling testing for patients that unfortunately now have more advanced cancers, but where these genomic findings are more likely to impact directly in terms of therapy.  So, for instance, as we've mentioned, the ability to have whole genome sequencing for patients with high grade serious ovarian cancers, means that this will impact the type of treatment they have.  And this also was the tumour type where we found the highest number of patients with BRCA mutations, so we have a potential inherited risk of a cancer as well.  So now what we have learnt and the infrastructure that we have developed has enabled this to have a real impact, not just for patients in the project now, but wider within the NHS.  Naimah: Mark, would you like to add something else there?  Mark: I think Nirupa's encapsulated it very well.  There were a range of benefits, so I mentioned earlier that in one centre 25% we have evidence got a benefit for their treatment for their cancer in some way shape or form.  So an example to what there might be is that some people got a medicine they wouldn't have received from routine care, and that might have been licensed for the treatment of that tumour, but it wouldn't have been the first line treatment choice.  Some people got medicines that they wouldn't have got because we don't normally associate using that medicine with that cancer, but they had a signature that showed that they were very likely to benefit.  Quite high numbers got an opportunity to get into a clinical trial, which is really important because if you look, over 50% of global oncology trials now have some kind of biomarker or diagnostic, or something like this alongside, what better than to have a comprehensive inventory of the variants and the cancer, and to be able over time to use that library to understand better the treatment course of that patient.  And that's what I think a whole genome adds, rather than the single, look at a single part of the genetic makeup.   And then finally, some had lots of mutations, really high rates of mutations, and maybe they should receive specific advance therapies, like immunotherapies.  Or alternatively, they had a feature in their genetic makeup which it looks like they inherited, as Nirupa absolutely correctly said earlier, these people need to be followed-up and they need more intensive screening, because this is how you detect cancer at an earlier stage.  And the final way people benefited is we could detect genetic changes in  their DNA that meant that if they were exposed to certain medicines, they were likely to suffer harm. And there's a particular, two medicines, 5-fluorouracil capecitabine, where possibly about 5% of people will need either a reduced dose or a completely different medicine, because it will be very harmful.  And so this is about getting the right medicine to the right patient first time, and getting the right outcome for that patient downstream.    And I think, you know, Nirupa's encapsulated it perfectly, there's a whole range of benefits that the patients can accrue from this.  And I think we should probably, Nirupa, say that people were quite cynical when we started, about what it would be that you would get over and above, for example, the cancer genome map that's at the international cancer genome consortium.  And, you know, I'd had leading cancer scientists in Britain say, "Oh well, we've discovered it all, there's nothing to find here."  And I think what this paper shows is that's not entirely true.    Nirupa: I would agree with that Mark, but I would also probably add that it highlights the value of having a large data set alongside that clinical information.  And what we were also able to do,  is whilst we very much talked about what were the gene targets that had a direct impact or genomic markers that impact care now, for which there is an approved therapy.  What we've also been able to do through this analysis, is actually highlight the number of mutations that have been identified for which there is a licence therapy in another cancer type, but not in that particular cancer type.  And what that means, is that specially now, as we have more and more biomarker-driven therapies, I mean, if we look at that compared to when the project started and now, that has increased dramatically.  And what that means is then there are sort of licensed medications that actually can be used in non-licensed indications via a clinical trial, via these very, you know, these basket studies which are across cancer types and are actually based on different types of molecular markers.  And really, we're able to show this at a pan-cancer level across the 13,000 tumours through the results from whole genome sequencing.  Naimah: You've both kind of touched on this throughout and, you know, we've talked about the development of personalised medicine.  And where do you see the future of cancer treatment in the next five years?  Maybe, Nirupa, we can go to you first?  Nirupa: That's a very good question.  I think and what I hope is that with more comprehensive and equitable and standardised testing for patients, especially within the NHS, that this will enable more personalised and targeted therapy alongside, you know, systemic chemotherapy.  And as well as that, better selection of patients that are likely to benefit from the newer immunotherapies.  And also where sequencing is very exciting, is that once we begin to understand more about the individual tumours, you know, going forwards there are a number of cancer vaccine trials, and the aim of those are to have specific vaccines that are going to target an individual's tumour.  So I think in the next five years, this is I think a very exciting space, I hope so, because we need to keep doing more in the space for our patients to try and improve therapy and precision oncology for them.  Naimah: And Mark, do you have anything to add to that point?  Mark: I think Nirupa's right, that there are new therapy extractions coming on, vaccination's one way.  But I think that what will become clear is whether we can use any molecular mechanisms for early detection of cancer.  The battleground here is that we all too often detect cancer late, when it's already outside of the organ it originated in and may be spread in other parts of the body.  It's very hard to effect a cure, almost impossible in that setting.  But what if we could detect cancer earlier?  And then what if we could place a whole genome or detailed molecular characterisation alongside that?  And then, as Nirupa suggested, give someone a vaccine tailored to their tumour that would eliminate it.  The real problem is all too often we detect cancer late, so maybe some of these new molecular diagnostics, such as cell-free tumour DNA will usher in an era of early detection.    And one of the things, and particularly before we did this project but also up until the beginning of the last decade, there were very few good biomarkers of cancer that were usable in the health system.  So we have for the first time opened the vista of having early detection, if we combine early detection with detailed molecular characterisation, possibly a whole genome, possibly another test, then I think we really can usher in the era of precision medicine.  And so I think Nirupa's absolutely right, there will be new treatments, there always will be, but what we have to do is to get detection at an earlier stage.  Naimah: We'll wrap up there.  Thank you to our guests, Dr Nirupa Murugaesu and Professor Sir Mark Caulfield for joining me today.  If you'd like to hear more about this, please subscribe to the G Word on your favourite podcast app.  Thank you for listening.   

The UK Biobank has been tracking the medical outcomes of people since 2006. Inside this giant freezing unit, a robot can access samples provided by half a million people in the UK. The samples include blood and saliva while computers have whole-body scans and medical updates from participants going back almost two decades. The Biobank says tens of thousands of scientists have already benefited from the data stored here, adding to knowledge that can be used to fight disease. This too will be released to researchers aiming to find effective treatments for so far, incurable diseases like dementia, Parkinson's, and soft tissue cancers. According to UK Biobank, the result comes after a £200 million (GBP) investment. Naomi Allen, Professor of Epidemiology at the University of Oxford and the Chief Scientist at the UK Biobank says the information being made available to medical professionals is unprecedented. “We're releasing the most ambitious project ever, which is the single largest tranche of whole genome sequencing data on half a million people. [...] So whole genome sequencing data consists of measuring all of the genetic variation across your entire genome, which has not been done before at this scale,” says Allen. Importantly, the Biobank will be able to offer new insights into how particular diseases can be more prevalent in certain populations, such as Black, Asian, and Hispanic people as well as White people. But the aim of UK Biobank is not just to treat disease and tackle it early but to prevent it too which would be a hugely progressive step for public health. Having information from the whole genome could help anticipate which drugs would work better on a person and which are likely to have severe side effects. According to UK Biobank, the genome bank could also accelerate understanding of illnesses that aren't properly understood such as Parkinson's, Alzheimer's, and autoimmune diseases. Allen believes the dataset can reveal how our genetics affect proteins, metabolites, and other physiological factors that could contribute to these illnesses. According to Allen, the dataset could also accelerate the application of new medical technologies such as gene editing. This article was provided by The Associated Press.

What were the biggest takeaways from ESMO 2023 related to TNBC and IBC? Tune in to hear experts Drs Kevin Kalinsky and Filipa Lynce discuss. Relevant disclosures can be found with the episode show notes on Medscape (https://www.medscape.com/viewarticle/991259). The topics and discussions are planned, produced, and reviewed independently of advertisers. This podcast is intended only for US healthcare professionals. Resources Inflammatory Breast Cancer: What You Should Know https://www.medscape.com/viewarticle/778334 Incidence, Characteristics, and Management of Central Nervous System Metastases in Patients With Inflammatory Breast Cancer https://pubmed.ncbi.nlm.nih.gov/36210737/ Inflammatory Breast Cancer Cells Are Characterized by Abrogated Tgfβ1-Dependent Cell Motility and SMAD3 Activity https://pubmed.ncbi.nlm.nih.gov/32043194/ JAK-STAT Signaling in Inflammatory Breast Cancer Enables Chemotherapy-Resistant Cell States https://pubmed.ncbi.nlm.nih.gov/36409824/ Whole-Genome Sequencing of Phenotypically Distinct Inflammatory Breast Cancers Reveals Similar Genomic Alterations to Non-inflammatory Breast Cancers https://pubmed.ncbi.nlm.nih.gov/33902690/ OncoPanel http://cancergeneticslab.ca/genes/oncopanel/ TRUDI: TDXD+Durva in HER2+/Low IBC (TRUDI) https://classic.clinicaltrials.gov/ct2/show/NCT05795101 Phase 2 Study of Response-Guided Neoadjuvant Sacituzumab Govitecan (IMMU-132) in Patients With Localized Triple-Negative Breast Cancer: Results From the NeoSTAR Trial https://ascopubs.org/doi/abs/10.1200/JCO.2022.40.16_suppl.512 The I-SPY Trials https://www.ispytrials.org/ 381O First-in-Human/Phase I Trial of HS-20089, a B7-H4 ADC, in Patients With Advanced Solid Tumors https://www.annalsofoncology.org/article/S0923-7534(23)01394-7/fulltext 660MO - First-in-Human Study of SGN-B7H4V, a B7-H4-Directed Vedotin ADC, in Patients With Advanced Solid Tumors: Preliminary Results of a Phase I Study (SGNB7H4V-001) https://oncologypro.esmo.org/meeting-resources/esmo-congress/first-in-human-study-of-sgn-b7h4v-a-b7-h4-directed-vedotin-adc-in-patients-with-advanced-solid-tumors-preliminary-results-of-a-phase-i-study-sg The Double Antibody Drug Conjugate (DAD) Phase I Trial: Sacituzumab Govitecan Plus Enfortumab Vedotin for Metastatic Urothelial Carcinoma https://pubmed.ncbi.nlm.nih.gov/37871703/

ONCE UPON A GENE - EPISODE 197 Rare Disease Dad Chronicles - From Stay-At-Home Fatherhood to My Mejo Co-Founder A Journey Through Costello Syndrome and Parenthood Challenges with Dadvocate - Ryan Sheedy Ryan Sheedy is a dadvocate and the Co-Founder of My Mejo. He shares his journey of courage and determination to provide a service for the rare disease community through My Mejo and of being a rare dad.  EPISODE HIGHLIGHTS Can you tell us about your journey as a rare disease dad? My wife and I found out unexpectedly that we were having twins and that has been the theme of our journey-- you can think and prepare for what will happen and then throw it out the window because you're not in control. Reynolds and Campbell are five and a half years old. We weren't aware of complications with the twins, my wife had a scheduled c-section and we were excited to meet our babies. When they were born, it wasn't the joyous moment we imagined experiencing because both babies immediately experienced complications. That began our journey of a lot of unanswered questions, research, praying, hoping and tests.  What was the motivation for starting the My Mejo platform? During the time in the NICU and trying to keep all the information organized and detailing it for sharing, I drafted the idea to solve the problem of remembering everything and connecting the dots. I created a one pager of all Reynolds' key information and I'd provide it to all new providers and therapists. Reynolds was the inspiration for the platform, but I'm inspired daily by the people I get to meet because of the platform. We launched in June 2022 and today we have 1,400 users using the platform across the country.  How does the My Mejo platform work? My Mejo allows you to collect and consolidate all the information you may need into one place and allows caregivers to provide all the information relating to a child to healthcare professionals or other caretakers. We have a section called Getting to Know Me where parents can note personal details that humanize medical encounters. We work on simplicity everyday- on keeping the platform super simple and very useful. Instead of information being scattered across different places, My Mejo allows you to organize information in a format that is easy on the eye in a version that can be downloaded into a .pdf file, journal, playbook or through text or email with controllable access rights. I should also mention that the platform is completely free for families to use. Exciting News! We've partnered with Dante Labs, the global leader in genomics, for a series of podcast episodes on "Once upon a gene". Discover their Rare Disease Health Package offering comprehensive Whole Genome Sequencing for rare disease patients. Uncover the mysteries of your genetic makeup and find potential treatment options. Learn more at us.dantelabs.com #Genomics #RareDiseaseHealth #DanteLabs #OnceUponAGene" LINKS & RESOURCES MENTIONED Mejo https://www.mymejo.com/ Global Genes 2023 RARE Advocacy Summit https://globalgenes.org/event/rare-advocacy-summit/ Costello Syndrome Family Network  https://costellosyndromeusa.org/ Dante Labs https://us.dantelabs.com/ International Rett Syndrome Foundation https://www.rettsyndrome.org/ My Rett Ally https://myrettally.mymejo.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!

Join us for an extraordinary episode of the #WiseNuts Podcast! This Wednesday night at 7:30pm, we're thrilled to have a true pioneer in the medical field, Dr. Sabine Hazan, as our special guest live on Facebook, Twitter, and YouTube. Dr. Sabine Hazan is no ordinary doctor – she was the first woman accepted into the University of Florida as a Clinical Gastroenterology Fellow. Her impressive track record includes publishing articles in prestigious medical journals, serving as Series Editor on the microbiome for Practical Gastroenterology, and being a sought-after speaker at various international medical conferences. As the CEO of Ventura Clinical Trials, with over 20 years of experience leading cutting-edge research, she has conducted over 300 clinical trials for pharmaceutical companies. During the COVID-19 pandemic, Dr. Hazan has been at the forefront, leading FDA-approved clinical trials for treatment and prophylaxis, making significant contributions to the fight against the virus. Not stopping there, Dr. Hazan is also the visionary behind Progenabiome, a genetic sequencing research laboratory, where she leads over 35 studies exploring the role of the gut flora in various diseases. Her groundbreaking work in COVID-19 research led to Progenabiome becoming the first lab worldwide to detect SARS-CoV-2 from patient fecal samples by Whole Genome Sequencing. Dr. Hazan's commitment to advancing medicine knows no bounds. She's a trailblazer in the field of familial fecal transplant, bringing hope to children with Autism. Plus, her creation of The Malibu Microbiome meeting has fostered an environment where physicians can freely discuss their findings on fecal transplants. Don't miss this incredible opportunity to hear from a true medical maverick! Join us live this Wednesday at 7:30pm. Follow the WiseNuts on FaceBook: https://www.facebook.com/watch/WiseNutsPodcast/ Follow the WiseNuts on Twitter: https://twitter.com/wise_nuts Follow the WiseNuts on IG: https://www.instagram.com/wisenuts_podcast/?hl=en #MedicalInnovation #ResearchRevolution #PodcastGuest #WiseNutsPodcast #podcast #covid19 #sars #covid #plandemic #pandemic --- Support this podcast: https://podcasters.spotify.com/pod/show/wisenuts/support

Timestamps: 01:40 Glycine and Methionine for Longevity 10:45 Risks of High Homocysteine 15:10 Why You Need Glycine 19:45 How Bad Is High Homocysteine 22:45 Optimal Protein Ratios 26:35 How Much Glycine to Take 31:57 Can Taurine Extend Lifespan 38:15 Finding Your Genetic Bottlenecks 44:08 Power of Genetics 45:26 Is MTHFR Important 55:18 How to Find Your Genetic Bottlenecks 01:00:15 Whole Genome Sequencing 01:06:35 How Important Are Your Bottlenecks 01:09:11 How to Get Your Whle Genome Sequenced 01:11:40 What to Focus on For Longevity Chris Masterjohn YouTube channel: https://www.youtube.com/@chrismasterjohn Use code SIIM https://donotage.org/ref/Siim%20Land/ to get an extra 10% discount

In this episode of our explainer podcasts, we've asked Greg Elgar, Director of Sequencing R&D here at Genomics England, to clarify in less than 10 minutes, what is whole genome sequencing. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. You can read the transcript here: What-is-whole-genome-sequencing.docx If you've got any questions, or have any other topics you'd like us to explain, feel free to contact us on info@genomicsengland.co.uk.

Dr. Deb Ondrasik is a pediatrician based in Massachusetts, and the topic today is the CACNA1A Foundation and its work on raising awareness about developmental disabilities. Deb's daughter was diagnosed in 2015 as one of eight children worldwide with a CACNA1A gene mutation causing epileptic encephalopathy. This is a story about the need for whole genome sequencing to determine the root cause of childhood developmental delays and the value of this information for developing a treatment plan.  Deb explains, "CACNA1A is a genetic mutation that's a group of diseases that can present in a number of different ways. It's mutations along a gene that affects the calcium channels and the neurons, and it's on chromosome 19. And so, there are numerous hundreds of different point mutations that could present a little differently. But kiddos can have anything from developmental delays to autism to epileptic encephalopathy, which my daughter has. Also, there are other conditions like hemiplegic migraines. And so, it is a variety of neurodevelopmental disorders that can be presenting." "I work as a general pediatrician. I see a lot of kids that have delays and significant delays or autism or epilepsy. And oftentimes, the families are told that that's the diagnosis. Your child has epilepsy, and we're going to give them some meds and see if we can control it. Or, if your child has autism, we're going to get them into therapy, which is partly correct. Medication is super helpful, and therapy is super helpful. But I think what's really important is to try to find the root cause of the symptoms, which are epilepsy, autism delays. And oftentimes, for some reason, pediatricians and even neurologists don't always go ahead and do the genetic testing."  #CACNA1AFoundation #CureCACNA1A #RareDiseases #RareDiseaseAwareness #CACNA1AAwareness #PatientAdvocacy #CACNA1AResearch #Epilepsy #IntellectualDisabilities #CerebellarAtrophy #CongenitalAtaxia #CaregiverSupport #WholeGenomeSequencing CACNA1A.org Download the transcript here

 Dr. Deb Ondrasik is a pediatrician based in Massachusetts, and the topic today is the CACNA1A Foundation and its work on raising awareness about developmental disabilities. Deb's daughter was diagnosed in 2015 as one of eight children worldwide with a CACNA1A gene mutation causing epileptic encephalopathy. This is a story about the need for whole genome sequencing to determine the root cause of childhood developmental delays and the value of this information for developing a treatment plan.  Deb explains, "CACNA1A is a genetic mutation that's a group of diseases that can present in a number of different ways. It's mutations along a gene that affects the calcium channels and the neurons, and it's on chromosome 19. And so, there are numerous hundreds of different point mutations that could present a little differently. But kiddos can have anything from developmental delays to autism to epileptic encephalopathy, which my daughter has. Also, there are other conditions like hemiplegic migraines. And so, it is a variety of neurodevelopmental disorders that can be presenting." "I work as a general pediatrician. I see a lot of kids that have delays and significant delays or autism or epilepsy. And oftentimes, the families are told that that's the diagnosis. Your child has epilepsy, and we're going to give them some meds and see if we can control it. Or, if your child has autism, we're going to get them into therapy, which is partly correct. Medication is super helpful, and therapy is super helpful. But I think what's really important is to try to find the root cause of the symptoms, which are epilepsy, autism delays. And oftentimes, for some reason, pediatricians and even neurologists don't always go ahead and do the genetic testing."  @CACNA1A #CACNA1AFoundation #CureCACNA1A #RareDiseases #RareDiseaseAwareness #CACNA1AAwareness #PatientAdvocacy #CACNA1AResearch #Epilepsy #IntellectualDisabilities #CerebellarAtrophy #CongenitalAtaxia #CaregiverSupport #WholeGenomeSequencing CACNA1A.org Listen to the podcast here

In 2022, Medcan became the first wellness provider in the country to enter the age of truly personalized medicine by integrating whole genome sequencing into a comprehensive preventive health assessment — allowing clients access to the most advanced technology available to promote longevity and address potential future health concerns. Now, a year later, Medcan genetic counsellors look back and evaluate what they've learned. Who is getting their whole genome sequenced, and what impact has the decision had on their lives? What are some of the most surprising findings? And what most excites the genetic team about future innovations to come? Director of clinical innovation Allison Hazell leads director of genetics Jessica Gu and genetic counsellor Justin Lorentz in a fascinating discussion that also features chief medical officer Dr. Peter Nord reflecting on his own personal experiences getting his whole genome sequenced. Check out the episode webpage for links and more info.  

We are thrilled to have Dr. Stephen Kingsmore, a dedicated physician, researcher, an inventor, and who is the currently the President/CEO of Rady Children's Institute for Genomic Medicine in San Diego, California.  In this podcast, you will not only learn what drives Dr. Kingsmore's purpose to improve the lives of newborns and to prevent avoidable and unnecessary deaths due to late diagnosis of rare genetic condition, but also his challenges in clinical practice and research in making his dream of a learning healthcare system using genomic medicine a reality globally.  Among his achievements, Dr. Kingsmore pioneered the development of ultra-rapid Whole Genome Sequencing to decode rare disease in newborns. In 2021, he led the RCIGM team to break his own world speed record by achieving diagnosis via WGS in 13.5 hours. Dr. Kingsmore came to Rady Children's in 2015 from Children's Mercy Kansas City, where he was the Executive Director of Medical Panomics. He previously served as President and CEO of the National Center for Genome Resources; COO of Molecular Staging Inc.; Vice President of Research at CuraGen Corporation; founder of GatorGen; and Assistant Professor at the University of Florida's School of Medicine. Dr. Kingsmore received MB, ChB, BAO and DSc degrees from the Queen's University of Belfast. He trained in clinical immunology in Northern Ireland and did residency in internal medicine and fellowship at Duke University Medical Center. He is a fellow of the Royal College of Pathologists.  Learn from Dr. Kingsmore how to work through the challenges in research and clinical practice in advancing newborn screening research.   Podcast Interview Questions   Thank you, Dr. Kingsmore, for being a guest on the NBSTRN podcast, NBS SPOTlight. We are excited to speak with you today! Dr. Kingsmore, you are currently the President/CEO of Rady Children's Institute for Genomic Medicine, where you lead a multi-disciplinary team of scientists, physicians and researchers who are pioneering the use of rapid Whole Genome Sequencing to enable precise diagnoses for critically ill newborns. How did your interest in rare disease research lead you to San Diego? Many of us remember specific milestones you and your team have accomplished and your calls to action have inspired stakeholders across the NBS community. During your presentation at our NBS Research Summit in 2021 you spoke about “NBS and Rapid Whole Genome Sequencing (rWGS) for Severe Infant Onset Genetic Diseases". Most recently, you were a part of the International Conference on Newborn Sequencing (ICoNS) in augural meeting where you joined researchers from across the world to share information about newborn sequencing initiatives. What were the major takeaways from that meeting, and what should the NBS Research Community be aware of? You recently published that your team has developed a “Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.” Up to eighty-one genetic diseases are included in screening, thirty-six of which are recommended for NBS by a federal advisory committee known as the Recommended Uniform Screening Panel. As you know, there are more than 7,000 rare genetic diseases (RD) that affect 6-8% of the US population or about 30 million Americans. Addition to the RUSP is a lengthy process.  What are your thoughts on how the use of genome sequencing using dried blood spots to identify rare diseases could change the landscape of newborn screening policy when we currently adopt one condition at a time and the nationwide implementation can take years? We appreciate your contribution to the American Journal of Medical Genetics Special Issue on Newborn Screening Research, where Dr. Amy Brower and Dr. Kee Chan were co-editors of this issue. Your article on the “Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey” highlights the BeginNGS, a consortium in collaboration with academia, pharmaceuticals, biotechnology and non-profit organization to provide a platform for implementing whole-genome sequencing for newborn screening, disease management and interventions, and rare disease drug development for use by partners around the world. Could you share the work in progress as of now? If we were to implement whole-genome sequencing for newborn screening globally one day, how do you envision long-term follow-up of management of care for the patient and families, including medical, non-medical, psychological services, education, and other related services to improve the quality of life to be supported? You received your medical training from the Queen's University of Belfast in Ireland. You trained in clinical immunology in Northern Ireland and did residency in internal medicine and fellowship at Duke University Medical Center. You are also a fellow of the Royal College of Pathologists. What sparked your interest in newborn screening? You have such a long history of successes and accomplishments that have global impact on health care and public health. In March of 2015, you surpassed your previous record in genetic sequencing by reducing the process to 26 hours, which was recognized in April 2016 by Guinness World Record as the fastest genetic sequencing in the world. Now, I think your team has reduced the time again.  On the flip side of the coin, would you mind sharing your biggest challenge —and what did you learn from that experience?  What's your biggest challenge in your research right now, and how are you tackling it? How could NBSTRN data tools and resources assist you? What does NBS research mean to you?

Can rapid whole genome sequencing (WGS) be utilized in the NICU setting? We explore in this podcast episode! Joining us for this episode is Dr. Hong Li, a clinical geneticist at Emory University. Our other expert is a recurring guest, world-renowned geneticist Dr. Madhuri Hegde. She serves as the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer Genomics, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer.If you want to hear her on other episodes of DNA Today tune into Episode 177 where we nerded out about the power of whole genome sequencing (which is a great precursor to this conversation) and Episode 202 about Duchenne Muscular Dystrophy.In addition to her role at PerkinElmer, Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine.Dr. Hong Li is a clinical and biochemical geneticist at Emory University School of Medicine who is passionate about diagnosing and treating children and families with genetic and metabolic diseases. She also oversees the Emory Metabolic Clinic, serves as Co-Chair of the Georgia Newborn Screening Advisory Committee (NBSAC), where she is extensively involved in Georgia's NBS development, implementation, and clinical follow-up for children with metabolic disorders, is the Vice-Chief of the genetics section at Children's Healthcare of Atlanta and geneticist of the multidisciplinary differences of sex development (DSD) clinic at CHOA and the site PI of the DSD translational research network (DSD-TRN). She also serves as the medical director of the Emory CTCF-related disorder (CRD) center.Dr. Li also holds multiple educational roles, including sponsoring the first Emory Genetics Interest Group at Emory College and School of Medicine to foster interest and attract intelligent students to join the growing field of medical genetics! Her research interests are primarily devoted to exciting clinical trials for genetic/metabolic diseases, and she is the principal investigator for multiple Phase I/II and III clinical trials. She is also interested in new gene discovery and better defining the phenotype of rare genetic diseases.On This Episode We Discuss:Symptoms that would warrant immediate genetic testing after birthStarting with whole genome sequencing (WGS) versus exomeOther tests that are useful for babies in the NICU beyond the genomeHow laboratories are maximizing the genome data for babies in a medical crisisSamples used for urWGS (ultra rapid WGS) and newborn screeningTrio testing with parents to rule out variants of being causative of symptomsurWGS minimizing healthcare costsWhy timing is so important for babies in the NICUHow results from urWGS can influence treatment plansHow projects like Project Baby Bear and Project Baby Deer are paving the way for whole exome sequencing as part of newborn screening Here is an interesting article from PerkinElmer about expanding into ultrarapid whole genome sequencing. During the interview Kira mentioned two episodes about the Telomere to Telomere Consortium which officially finished the complete human genome sequence in 2022. Dr. Eric Green shares his expertise in Episode 183 followed by Dr. Miga and Dr. Phillippy in Episode 184. Stay tuned for the next new episode of DNA Today on Friday, March 17th when muscular dystrophy experts Dr. Louise Rodino-Klapac (from Sarepta) and Livija Medne (Children's Hospital of Philadelphia aka CHOP) share their expertise specifically about limb-girdle muscular dystrophy. New episodes are released every Friday. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. You can visit perkinelmergenomics.com for more information. (Sponsored)If you've been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I'm drinking is from Four Sigmatic. I'm really picky about my coffee, it's got to be bold, not watery. And I've been really happy with Four Sigmatic. Here's the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don't taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four Sigmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that's FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)I've enjoyed recording a few episodes about epigenetics, one of the interviews where I learned the most was with the Diagnostic Labs at the Greenwood Genetic Center. They taught me about EpiSign which is a novel clinically validated test that analyzes methylation. I just learned that since this episode in 2021, verison 4 of EpiSign has been released which has expanded to include over 70 conditions. If you are attending ACMG this month stop by booth 607 to chat with Greenwood Genetics. In the meantime brush up on your epigenetics by listening to Episode #145 of DNA Today and visit GreenwoodGeneticCenter. (Sponsored)Which muscular dystrophy causes weakness of the muscles typically starting around the hips and shoulders? That would be limb girdle muscular dystrophy, or LGMD. LGMD is a group of neuromuscular diseases caused by mutations in genes responsible for proteins critical for muscle function, regulation, and repair1-3. Sarepta is a global biotechnology company working on engineering precision genetic medicine with the goal of changing the lives of people living with rare muscular dystrophies. Their multi-platform Precision Genetic Medicine Engine includes gene therapy, RNA and gene editing approaches. Oh that reminds me, ACMG is in March and Sarepta will be at booth 504. You can also head over to limbgirdle.com to learn more. (Sponsored) 1. Murphy AP and Straub V. J Neuromusc Dis. 2015;2(suppl. 2):S7-S19.2. Liewluck T and Milone M. Muscle Nerve. 2018;58(2):167-77.3. McNally EM. The Sarcoglycans. In: Landes Bioscience. 2000–2013.

https://302.buzz/PM-WhatAreYourThoughtsThe medical world is accomplishing great things; for example - Rapid Whole Genome Sequencing. A cutting-edge concept that has cut diagnoses of rare diseases from weeks and months to days and hours. It's called Project Baby Deer and it's focused on implementing evidence-based precision medicine and pediatrics to facilitate rapid whole genome sequencing for sick inpatients, neonates and children across the state. The project was born out of a collaboration between Dr. Caleb Bupp, Dr. Andrea Scheurer and Dr. Joseph Fakhoury. Your host, Dr. Lia Gaggino talks with these 3 clinicians about this groundbreaking initiative that is helping to provide better care for children across the state. If you know someone who is in medical school, you'll need to share this episode with them. [00:33 -28:07] Intros / What is Rapid Whole Genome Sequencing?Michigan's “Baby Deer” project was designed after California's “Baby Bear” project.The genetic code is made up of billions of adenine (A), cytosine (C), guanine (G) and thymine (T)Variations in the code is what makes us unique. In the past, sequencing was expensive and slow, but technology has made it faster and cheaper.Entire genetic code can be sequenced in hours with accurate results.[28:08- 35:40] Benefits of Genetic Testing for Children Genetic testing can provide important information about a child's risk of developing a particular health condition in the future.Genetic testing is faster and cheaper than ever before.Genetic testing can help reduce the cost of care by providing more accurate diagnoses and treatments. It can also help identify inherited traits and conditions that could affect a child's health.Knowing the cause of a medical issue helps make better decisions on how to treat it[35:41 -46:04] The Benefits of CollaborationBronson and DeVos hospitals collaborated to develop a comprehensive consent process, as well as a system for sharing and analyzing the data.The two hospitals have also developed a system for follow-up care, ensuring that any positive results are followed up on and that any negative results are discussed with the family. The collaboration between Bronson and DeVos has made rapid WGS accessible to more families and has helped to improve the quality of care for those families.Although the cost is a main barrier to expansion, the collaboration between the two hospitals will provide rapid WGS to patients in need.[46:05 - 1:02:49] What is Rare Disease Day? Rare Disease Day is the last day of February, the rarest day of the year.It is a day to raise awareness and hope for the 300 million people worldwide who live with a rare disease.It is a day to highlight the need for research, support, and advocacy for these diseases.It has been happening every year since 2008.[1:02:50 - 1:08:48] Closing segment Takeaway.You can reach Dr. Joseph FakhouryFacebook: Joe Fakhoury | FacebookInstagram: @jfakhoury.515LinkedIn:

(00:31) Would each of you share a little bit about yourselves and your backgrounds? (01:47) Could you provide us with an overview of what the WGSDX test is? (02:26) How is that different from other genetic tests, like exome or microarray? (03:56) Tell us more about who benefits from these tests. (07:17) Is this test recommended by expert groups? (09:10) How do providers go about ordering this test, and what sample types are accepted? (11:12) What type of variants are detected by this test? (13:04) How would you say our test matches up to other genome tests available on the market? (14:04) What about medically actionable secondary findings? (14:55) Are there any other unique features? (16:07) Could you summarize the benefits of doing WGSDX at Mayo?

Asaf Zviran is the CEO, CSO, and Co-Founder of C2i Genomics which is both a technology company and a diagnostic company. C2i is providing a decentralized, cloud-based platform that allows global genomic labs, health centers, and pharma companies to do whole-genome sequencing on cancer patient tissue or blood. This technology uses the genomic data to determine the best options for treatment and to monitor treatment response. Asaf explains, "The way that we look at the cancer detection is in a holistic way. We're actually detecting huge amounts of features across the genome in a very, very sensitive and accurate manner. Many clinical trials have been showing that the C2i whole-genome approach is much more sensitive and accurate than any other technology that is currently in development." "Whole-genome, I think is a new category in medical genomics in general. Whole-genome allows us to very comprehensively extract everything, all of the variants, all of the genomic changes, in the patient blood. And then the challenge again is how to use this very comprehensive information to create insight, to create applications. This is exactly what C2i is doing. Basically, we are building out clinically validated software applications that can take the whole-genome data, the whole data from the apps that are working with us, and allow very sophisticated AI signal processing to detect cancer, to monitor treatment response, to predict recurrence." "And we are doing that on a global scale. I can tell you that besides our CLIA-equipped lab in the US, we are working in partnership to deliver these services to other health systems in the US. We are a clinical-approved product in Europe, and starting to do clinical testing and working extensively in Europe. We also have a very strong distribution in the Middle East and Asia. So Israel, Singapore, India, and now going into a new location in Asia." #C2iGenomics #WholeGenome  #WholeGenomeSequencing #PrecisionMedicine #Cancer #Tumors #AI #MedicalGenomics C2i-Genomics.com Download the transcript here

Asaf Zviran is the CEO, CSO, and Co-Founder of C2i Genomics which is both a technology company and a diagnostic company. C2i is providing a decentralized, cloud-based platform that allows global genomic labs, health centers, and pharma companies to do whole-genome sequencing on cancer patient tissue or blood. This technology uses the genomic data to determine the best options for treatment and to monitor treatment response. Asaf explains, "The way that we look at the cancer detection is in a holistic way. We're actually detecting huge amounts of features across the genome in a very, very sensitive and accurate manner. Many clinical trials have been showing that the C2i whole-genome approach is much more sensitive and accurate than any other technology that is currently in development." "Whole-genome, I think is a new category in medical genomics in general. Whole-genome allows us to very comprehensively extract everything, all of the variants, all of the genomic changes, in the patient blood. And then the challenge again is how to use this very comprehensive information to create insight, to create applications. This is exactly what C2i is doing. Basically, we are building out clinically validated software applications that can take the whole-genome data, the whole data from the apps that are working with us, and allow very sophisticated AI signal processing to detect cancer, to monitor treatment response, to predict recurrence." "And we are doing that on a global scale. I can tell you that besides our CLIA-equipped lab in the US, we are working in partnership to deliver these services to other health systems in the US. We are a clinical-approved product in Europe, and starting to do clinical testing and working extensively in Europe. We also have a very strong distribution in the Middle East and Asia. So Israel, Singapore, India, and now going into a new location in Asia." #C2iGenomics #WholeGenome  #WholeGenomeSequencing #PrecisionMedicine #Cancer #Tumors #AI #MedicalGenomics C2i-Genomics.com Listen to the podcast here

Welcome to this episode of Feedstuffs Swine Healthline, brought to you by Pharmgate Animal Health and focused on endemic bacterial agents. Increasingly, the swine industry's attention is focused on epidemic agents, such as PRRS and PED, or the constant threat of foreign animal diseases, such as African Swine Fever. In this episode, we switch gears and talking about an ever-present challenge posed by endemic bacterial agents, such as Streptococcus suis and Glaesserella parasuis – bacterial agents that jeopardize herd health, compromise animal well-being and drag down performance potential. Our guest is Dr. Maria Jose Clavijo, a research assistant professor at Iowa State University and a health assurance veterinarian with The Pig Improvement Company (PIC). Dr. Clavijo will talk about trends that show an increase in the diagnosis and detection of certain bacterial pathogens. She'll also explain how whole genome sequencing helps identify different pathogen strains, opening the door to more effective disease control programs. This is the second in a four-part podcast series about Swine Respiratory Disease Complex brought to you by Pharmgate Animal Health. Call your Pharmgate representative or visit pharmgate.com to learn about their broad portfolio options to support your protocols.Join us next week on Swine Healthline to hear from Dr. Jeremy Pittman, a veterinarian with Smithfield Pork. He will talk about the complex factors of successful disease elimination strategies and how you as a veterinarian can ask the right questions to help your customers meet their pork production goals.

Overview: This podcast will explore the utility of whole genome sequencing (WGS) in the context of hospital epidemiology of infection prevention, including recent evidence showcasing success in identifying and/or determining the nidus of a cluster or outbreak. The speakers will explain how they have or are planning to use WGS and the interplay between those performing or studying WGS and clinicians/infection prevention staff. Advantages, challenges, limitations, and research gaps will be addressed as well as what the speakers envision for the future. Speakers: Deena R. Altman, MD, MS Alexander Sundermann, DrPH, CIC, FAPIC Chad Nix, MSc, CIC (moderator)

Gay has been active in the Rare Disease community for over two decades and continues her efforts to build and support patient and family advocacy. Co-founded ADCY5.org, the foundation for ADCY5-related dyskinesia. ADCY5.org supports world-renowned researchers who study the gene and its variant. She continues to build a community of hundreds with this disease, when they started with only 1. She is an advocate of genetic testing, shared data, and patients owning their data. Her focus remains to help all Rare Disease patients find testing and teach them how to maintain health records. Gay successfully advocates for access in a variety of environments including, but not limited to, genetic testing ,education in classrooms, private, state, and federal insurance, as well as collaborating in the Rare Disease space to gain access to clinical trials and medical therapies. In addition to being the keynote speaker for the Biocom Annual Dinner, she has spoken to audiences of up to 1,000 attendees about her experience of having an undiagnosed child for 15 years, getting a diagnosis through Whole Genome Sequencing, and building a community around an unknown genetic disease. Disclaimer: Gay is speaking to us today as a parent and patient advocate and her opinions are her own. She is currently the Director of Patient Advocacy & Engagement at Neurogene Inc. and applies her life learning to help other Rare Disease families. Links: Gay: https://www.linkedin.com/in/gaygrossman/ Foundation: www.ADCY5.org Lilly: www.LillyGrossman.com https://www.linkedin.com/in/lillygrossman/

In this episode we pick up our conversation with clinical geneticist Melody Redman to talk about a new NHS programme in England which is piloting whole genome sequencing of newborn babies. Why are scientists and doctors interested in collecting a child's entire set of genes and storing them for the rest of their life? What medical benefits might result from this, and what ethical challenges does it throw up? Just because we can now do this, should we? We also consider some of the risks of our increasingly geneticised world and how as Christians we can hold onto our identity in Christ rather than lapsing into genetic determinism. Find out more about the Newborn Genomes Programme here - https://www.genomicsengland.co.uk/initiatives/newborns The group Unique helps support people and families affected by rare chromosomal and genetic disorders - https://rarechromo.org/ Subscribe to the Matters of Life and Death podcast: https://pod.link/1509923173 

This week Patrick is joined by three pioneering guests united by one ground-breaking project: the UK BioBank's Whole Genome Sequencing Project. Dr Mark Effingham, Deputy CEO of UK Biobank; Dr Kári Stefánsson, Founder and CEO of deCODE Genetics, and Professor Marylyn Ritchie, University of Pennsylvania, discuss the goals of the collaboration, it's challenges, and the potential it has to change the future of genomics research.

This week Patrick is joined by three pioneering guests united by one ground-breaking project: the UK BioBank's Whole Genome Sequencing Project. Dr Mark Effingham, Deputy CEO of UK Biobank; Dr Kári Stefánsson, Founder and CEO of deCODE Genetics, and Professor Marylyn Ritchie, University of Pennsylvania, discuss the goals of the collaboration, it's challenges, and the potential it has to change the future of genomics research.

The DocPreneur Leadership Podcast #docpreneurnation has become a trusted voice of healthcare insight, news, Physician education and economic analysis about a wide variety of topics in healthcare. Those topics include but are not limited to: Precision Medicine; Concierge Medicine; Whole Genome Sequencing; Pharacogenomics; Membership Medicine; Direct Primary Care; Legal, Accounting and Physician Succession Planning; Practice Management and Growth and more. This Podcast Is Recorded By The DocPreneur Leadership Podcast/Produced/Hosted by Concierge Medicine Today, LLC. This Podcast Is Recorded By The DocPreneur Leadership Podcast/Produced/Hosted by Concierge Medicine Today, LLC. Intended Audience and/or Use: The content, products and/or services offered or discussed herein are here to educate physicians, healthcare business leaders and/or healthcare professionals and is not intended for the general public (Please see full Disclaimer below). In no event is this information considered medical, legal, financial, accounting or other professional advice (Please see full disclaimer below). Concierge Medicine Today, LLC., our sister publication(s) and/or Podcast(s) use our best efforts to gather the information that is available and use it effectively to help educate Physicians about new and exciting innovations in healthcare. Concierge Medicine Today, LLC., our representatives, agents or employees accept no responsibility or liability for the claims made by the Physician(s) interviewed or our guests. Once again, If you have any questions about these topics, evidence cited, physicians, their services, etc., please contact the doctor or doctor's office directly. The views expressed herein are those of the Physician; they do not necessarily reflect the views of our organization or Representatives. Please note, if you have any questions about our interviewed guests, physicians, business leaders, etc., their services, insights, etc., please contact them or that doctor or doctor's office directly. The editors, publishers, distributors, hosts, Concierge Medicine Today, LLC., its related, affiliated or subsidiary companies or employees/representatives, stress that since the details of an individual's personal health situation are fact-dependent, you should seek the help of a competent professional, attorney, licensed physician in good standing and/or financial/tax professional. None of our representatives or affiliated companies of Concierge Medicine Today, LLC., shall be liable for any direct, indirect, special, incidental or consequential damages or financial costs arising out of the use of any of the physicians thoughts or advice on this article, journal or podcast(s) (See Full Disclaimer Below). Full Disclaimer: This interview, the hosts, guests, producers, it's agents/authorized representatives and/or affiliated companies, are not providing medical, financial and/or legal advice. Any portion of this broadcast is not to be reproduced, copied or transmitted in any form and is owned, managed and produced by Concierge Medicine Today, LLC. Concierge Medicine Today, LLC., it's authors, hosts, agents, and/or authorized representatives or affiliated companies are not responsible or liable for the content or opinions of any particular guest and/or Physicians insight(s) given on this broadcast/program/site(s). Any products, actions or services mentioned are at your own risk and you agree, consent and understand the risks associated with using those products/services and indemnify and hold harmless Concierge Medicine Today, LLC., its publishers, authors, editors, guest posts, interviewed guests, physicians interviewed, hosts, guests, sponsors, affiliated representatives, affiliated companies of Concierge Medicine Today, LLC., etc., directly and/or indirectly, against any damages, losses, liabilities, judgments, costs or expenses (including reasonable attorneys' fees and costs) arising out of a claim by a third party relating to materials you have heard about, used, purchased, read, posted and/or other actions taken by you on any Concierge Medicine Today, LLC., Site(s) and this podcast. Furthermore, you accept, consent and you agree to indemnify, defend, and hold us and any of our partners, agents, officers, directors, employees, subcontractors, successors, assigns, third-party suppliers of information and documents, attorneys, advertisers, product and service providers, and affiliates free from any liability, loss, claim, and expense, including reasonable attorney's fees, related to your violation of this Agreement or use of our Website, Products, Events and/ or Services forever. Additionally, your use of our site(s)/podcast(s) constitutes your agreement to the Terms and Conditions and Privacy Policy (https://conciergemedicinetoday.org/tcpp/). This site, it's brands, its agents, it's authorized representatives, affiliated companies, it's products, services and/or imprints are owned by Concierge Medicine Today, LLC., and not the product of any one individual and once again, do not constitute medical, financial, tax and/or legal or other professional advice. Please note, any interview/story/guest is not an endorsement and/or recommendation of any one Physician, service, individual and/or company or product. The content, products and/or services offered or discussed herein are here to educate physicians and healthcare professionals and not intended for the general public. Nothing in the content, products or services, podcast and/or interview(s) should be considered, or used as a substitute for, medical advice, diagnosis or treatment. This site and its services do not constitute the practice of any medical, nursing or other professional health care advice, diagnosis or treatment. You should always talk to your health care provider for diagnosis and treatment, including your specific medical needs. None of the physicians, products or services offered, mentioned, interviewed and/or listed through this website(s) and/or other Concierge Medicine Today, LLC., books, podcasts, articles, courses, webinars, and the like, represents or warrants that any particular physician, company, medical practice, service and/or product is safe, appropriate or effective for you. We advise users to always seek the advice of a physician and/or other qualified health care provider with any questions regarding personal health or medical conditions. If you have or suspect that you have a medical problem or condition, please contact a qualified health care professional immediately. If you are in the United States and are experiencing a medical emergency, please call 911 or call for emergency medical help on the nearest telephone.

In episode 55 of the Precision Medicine Podcast, we welcome Dr. Stephen Kingsmore, President and CEO of the Rady Children's Institute for Genomic Medicine. Dr. Kingsmore joins us to discuss the extraordinary role whole genome sequencing is playing in prolonging and improving the life of critically ill newborns.Read the full summary and tune in here!

World-renowned medical geneticist Dr. Madhuri Hegde, joins the show to explore whole genome sequencing (WGS). She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine.On This Episode We Discuss:The difference between WES and WGSHow WGS differs between laboratories The frequency at which WGS reveals an additional condition/disorder that the ordering providers were not expectingSituations in which trio testing is helpful for WGSPrenatal WGSThe future of newborn screeningWGS for hereditary cancer syndromesHow people learn more about PerkinElmer's WGSLearn more about WGS at PerkinElmerGenomics.com and follow them on Twitter, Facebook, and LinkedIn. Be sure to follow our guest, Dr. Madhuri Hegde, on LinkedIn.Head over to our social media to enter our giveaway! Search “DNA Today” on Instagram and Twitter. Go to our host's posts on LinkedIn by searching “Kira Dineen”. There you can enter to win “Modern Clinical Molecular Techniques”. Dr. Hedge is one of the editors. An earlier edition was one of Kira's textbooks in undergrad! Stay tuned for the next new episode of DNA Today on April 1st 2022, where we'll be discussing single-cell spatial genomics with Vizgen! New episodes are released on Fridays. In the meantime, you can binge over 175 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Curious to take a peek inside your body's drug response? Then you should check out Picture Genetics' PGx Test. Powered by clinical laboratory Fulgent Genetics, Picture's PGx Test is easy to order and understand, with hassle-free clinician involvement and good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PGx test kit, visit picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your health tomorrow. Check out Picture Genetics' interview about pharmacogenomics with their Director of Genetic Counseling, Gregory Kellogg on Episode #174 of DNA Today! (SPONSORED)Have you heard of the Blueprint Genetics My Retina Tracker Program? This program offers eligible patients in the US no-cost comprehensive genetic testing and counseling for their inherited retinal degeneration. The My Retina Tracker Program Panel includes 351 genes, mitochondrial DNA, and non-coding variant assessment. Stay tuned for our interview with Blueprint Genetics about the My Retina Tracker Program and the patient registry on a future episode of “DNA Today”. In the meantime, you can learn more at BlueprintGenetics.com. (SPONSORED)Polygenic risk scores (or PRS) are a powerful way to identify an individual's risk of common disease by analyzing up to millions of genetic variants spread across the genome. Allelica has launched the first PRS test on the market to calculate ancestry-specific PRS for breast cancer, prostate cancer, coronary artery diseases, Type 2 Diabetes and Alzheimer's disease and deliver the results in a clinical-grade report. Order your test today at order.allelica.com. For 25% off AND free shipping, use code “DNATODAY” at checkout. Allelica: Empowering the next generation of clinical genomics. Check out Allelica' interview about PRS with co-Founder and CEO Giordano Bottà on Episode #168 of “DNA Today”! (SPONSORED)

Sunny Jain is the Founder and CEO of Floré by Sun Genomics and is driven to better understand the microbe cells that live inside of our intestinal tract and all around our body.  With a history of working at Illumina, Sunny is studying the DNA from those cells, the microbiome, to understand their function and how they contribute to our overall health. Sunny explains, "Sun Genomics has created the world's only precision probiotic, And it utilizes AI, DNA sequencing, biome chromatics, and e-health technology. Our technology helps us build the largest database of microbiomes that are sequenced via metagenomics, or whole genome sequencing, to understand the modulatory effects or the changing effects that food ingredients and probiotics can have for 80 plus million Americans that suffer from gut health issues every year." "So, you truly are unique, from a gut microbiome perspective. Our human DNA is 99.9 percent similar. So, we're very identical from a human DNA perspective. But the DNA from microbes of the gut, you're maybe 10 percent similar, and you are 90 percent unique from the gut microbiome." "And this is really where I think precision medicine can enable a lot of advancement to our human health. It is really within that large, vast difference where we will be able to find much more customized solutions." @SunGenomics #SunGenomics #GutHealth #Probiotics #Microflora #CustomizedProbiotics #Microbiome #SanDiego Flore.com Download the transcript here

Sunny Jain is the Founder and CEO of Floré by Sun Genomics and is driven to better understand the microbe cells that live inside of our intestinal tract and all around our body.  With a history of working at Illumina, Sunny is studying the DNA from those cells, the microbiome, to understand their function and how they contribute to our overall health. Sunny explains, "Sun Genomics has created the world's only precision probiotic, And it utilizes AI, DNA sequencing, biome chromatics, and e-health technology. Our technology helps us build the largest database of microbiomes that are sequenced via metagenomics, or whole genome sequencing, to understand the modulatory effects or the changing effects that food ingredients and probiotics can have for 80 plus million Americans that suffer from gut health issues every year." "So, you truly are unique, from a gut microbiome perspective. Our human DNA is 99.9 percent similar. So, we're very identical from a human DNA perspective. But the DNA from microbes of the gut, you're maybe 10 percent similar, and you are 90 percent unique from the gut microbiome." "And this is really where I think precision medicine can enable a lot of advancement to our human health. It is really within that large, vast difference where we will be able to find much more customized solutions." @SunGenomics #SunGenomics #GutHealth #Probiotics #Microflora #CustomizedProbiotics #Microbiome #SanDiego Flore.com Listen to the podcast here

Illumina and the global nonprofit Genetic Alliance late last year unveiled the iHope Genetic Health program, which is aimed at providing whole-genome sequencing to patients across the globe impacted by genetic disease. At least half of iHope Genetic Health's efforts will be focused on areas of the world in need outside the United States with more than one-third of Illumina's support being dedicated to patients in Africa. Through the program, Illumina will enable Genetic Alliance to create networks of clinics, and laboratories equipped with the necessary genome technology to provide precision genomic diagnoses to patients suffering from rare genetic disease. We spoke to Ryan Taft, vice president of scientific research for Illumina, about the growing case for expanded use of genome sequencing as a diagnostic tool, the iHope Genetic Health program, and its efforts to expand use of the technology in low- and middle-income communities around the globe.

This Passage to Profit - The Inventors' Show episode features Marci Hopkins, host of "Wake Up with Marci", Nikol Rogers with The ZenRed Method, Anna Skaya from Basepaws and Dr. Ramses Alcaide from Neurable. Marci Hopkins is an award-winning TV Personality; host, show creator and executive producer of “Wake Up with Marci” – which airs on CBS owned WLNY-TV, channel 10/55 at 10am on Saturdays. Wake Up is a talk show all about empowerment. Marci shares stories of triumph and transformation to spread hope. She touches on wellness, health, female issues, divorce, family, self help, mental health, beauty, along with performances from musical guests and cooking demos. She has specialists on to educate the audience, provide tools and resources. Wake Up is about living our happiest lives! Marci has been voted Media Mompreneur of the Year, by New Jersey Family Magazine, and featured on CBS New York; PEOPLE en Espanol; Latina Magazine; 201 Magazine; News 12 NJ; 201 Magazine, New Jersey Family Magazine, The Bergen Record, BOLD Global and other leading outlets. Read more at: https://wakeupwithmarci.com/Nikol Rogers PCC, WPCC, is an empowerment coach, writer, and speaker who founded The ZenRed Method in 2015 to teach professional artists, speakers, entrepreneurs, and presenters how to be Fearless and embody a Powerful Presence, connect deeply with their audience, and stand out from the crowd. Using her signature ZenRed Method, her clients learn to re-frame how they think, feel, and act from a place of power, rather than from fear or limiting beliefs. Prior to becoming a coach, Nikol had a successful career as a musical theater performer and choreographer, performing in National Tours, commercials, and kicking eye high as a New York City Rockette. Read more at: https://nikolrogers.com/Visit the Entrepreneur Presenters for December 19, 2021 at their Websites:Anna Skaya is the founder of Basepaws, offering the most advanced cat DNA test, as seen on Shark Tank! Tests reveal breeds, traits, health, dental disease and Whole Genome Sequencing using quick, saliva-based tests from the comforts of home. All lab results come from an accredited, LA-based Basepaws laboratory, and are handled by their scientists. Avoid emergency vet visits by identifying disease early, before it becomes visible and harmful. All reports sent straight to your inbox in 4-6 weeks. Read more at: https://basepaws.com/Dr. Ramses Alcaide is a Neuroscientist and is the CEO and Co-Founder of Neurable, a company that makes technology that both can understand neural activity as a translational layer (Stress, Fatigue, and others) as well as be used for direct control of devices. Their revolutionary brain-computer interface allows people to control software and devices using only their brain activity. The technology has enabled people to play games, control toys and drive a full-sized car using only their thoughts. Neurable is currently taking pre-orders of their smart headphones. Read more at: https://www.neurable.com/ Visit https://passagetoprofitshow.com/

In this episode hosts Astra, Fel, and Han explore ancestry, the importance of DNA in determining eligibility to participate in closed practices and other traditions alongside issues of biological essentialism. Do DNA tests such as 23 & Me actually give you accurate and useable data? If so, how, if at all, does that translate to occult practices? Or is a practice defined by the spirituality of location and not through biological inheritance?Want to discuss these topics with us more? Join the discord here: https://discord.gg/kJthJyxTBcResources:Low Coverage of Whole Genome Sequencing: https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-019-0682-2History and Current Approaches to Genome Sequencing: https://reader.elsevier.com/reader/sd/pii/S2001037019303277?token=E13A38288C654F65E0304EA37B1108BF2348D197EC9AC225338DCF7E210A65FC87FC4D1588C854C5FD51884F7DFE04E1&originRegion=us-east-1&originCreation=20211120003753Personalised Medicine and Whole Genome Sequencing: https://www.frontiersin.org/articles/10.3389/fgene.2019.00049/fullAncestry: Understanding Genetics (good summary of science in English terms): https://genetics.thetech.org/ask-a-geneticist/same-dna-different-ancestry-resultsDefining signal thresholds in DNA microarrays: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC117791/Black Death Left a Mark on the Human Genome: https://www.science.org/content/article/black-death-left-mark-human-genome

Join MitoAction and Dr. Richard Boles for our November Mito Expert Series presentation titled: Whole genome sequencing with comprehensive re-analysis in undiagnosed or unclear causes with mitochondrial dysfunction: How this can lead to improved diagnosis, treatment, and clinical outcomes. Dr. Boles will talk with us about the Neurabilities NeuroGenomics Program and how we can make exact diagnoses using whole genome sequencing, translate that into treatments, and improve clinical outcomes. He will also share information with us about the NeuroNeeds product line. Click here for the accompanying slides.

This week, we'll focus further on studies presented at the 2020 ASH Annual Meeting & Exposition, including findings on the use of whole-genome sequencing to trace the origins of a blood cancer; stem cell transplant for older patients with myelodysplastic syndromes; and a triplet therapy for relapsed and refractory multiple myeloma.To listen to more podcasts from ASCO, visit asco.org/podcasts.