Rapid Exome and Genome Testing for the Diagnosis of Rare Diseases with Lisa Gurry GeneDx TRANSCRIPT

Aaron Timm, CEO of Openwater, is driving the shift from single-purpose, room-sized equipment to multi-purpose, portable, light-weight medical devices designed on an open-source platform. Some tools use infrared light to measure blood flow in real time for applications such as stroke detection. Another device uses focused ultrasound to modulate tissue in the brain for treating neurodegenerative diseases and psychiatric conditions. The platform is designed so that a single hardware device can run multiple applications, allowing researchers to adapt and develop applications specific to their work, bringing innovation into the marketplace similar to the smartphone app environment. Aaron explains, "So we have two primary devices. One uses infrared light to measure blood flow and blood volume in real time. So that one is being used, for example, to measure blood flow to the brain to help determine whether someone is having a stroke. At the University of Pennsylvania, there was a study done using that device, where our device outperformed the existing stroke scales. The other device that we have is a focused ultrasound device. And what that device does is it uses sound waves or focused ultrasound to target and modulate tissue in the brain and elsewhere in the body. That's being used in research today for all sorts of neurodegenerative diseases, psychiatric diseases. And there's just a lot going on in the world of focused ultrasound, including using our devices."   "So this focused ultrasound device and the science behind it eliminates the need for drugs or surgery and just uses focused ultrasounds to modulate or stimulate things within the brain, for example. It's used for everything from depression, anxiety, Alzheimer's disease, and addiction. Many different indications are being addressed in research using these kinds of devices, including ours." #OpenwaterHealth #MedTech, #NonInvasiveCare, #PortableHealthcare, #PatientAccess, #HealthcareInnovation #FocusedUltrasound #LIFU #Hemodynamics #Openwater #OpenLIFU #OpenMotion #DigitalHealth #Neurotechnology #StrokeCare #AIinHealthcare #OpenSourceMedicine #ClinicalResearch #WearableMedicalDevices #HealthcareInnovation openwater.health Listen to the podcast here

Aaron Timm, CEO of Openwater, is driving the shift from single-purpose, room-sized equipment to multi-purpose, portable, light-weight medical devices designed on an open-source platform. Some tools use infrared light to measure blood flow in real time for applications such as stroke detection. Another device uses focused ultrasound to modulate tissue in the brain for treating neurodegenerative diseases and psychiatric conditions. The platform is designed so that a single hardware device can run multiple applications, allowing researchers to adapt and develop applications specific to their work, bringing innovation into the marketplace similar to the smartphone app environment. Aaron explains, "So we have two primary devices. One uses infrared light to measure blood flow and blood volume in real time. So that one is being used, for example, to measure blood flow to the brain to help determine whether someone is having a stroke. At the University of Pennsylvania, there was a study done using that device, where our device outperformed the existing stroke scales. The other device that we have is a focused ultrasound device. And what that device does is it uses sound waves or focused ultrasound to target and modulate tissue in the brain and elsewhere in the body. That's being used in research today for all sorts of neurodegenerative diseases, psychiatric diseases. And there's just a lot going on in the world of focused ultrasound, including using our devices."   "So this focused ultrasound device and the science behind it eliminates the need for drugs or surgery and just uses focused ultrasounds to modulate or stimulate things within the brain, for example. It's used for everything from depression, anxiety, Alzheimer's disease, and addiction. Many different indications are being addressed in research using these kinds of devices, including ours." #OpenwaterHealth #MedTech, #NonInvasiveCare, #PortableHealthcare, #PatientAccess, #HealthcareInnovation #FocusedUltrasound #LIFU #Hemodynamics #Openwater #OpenLIFU #OpenMotion #DigitalHealth #Neurotechnology #StrokeCare #AIinHealthcare #OpenSourceMedicine #ClinicalResearch #WearableMedicalDevices #HealthcareInnovation openwater.health Download the transcript here

Jack Silberstein, CEO of Deck Bio, is developing next-generation T cell engagers designed to activate the patient's immune system to shrink tumors. These T cell engagers are bispecific molecules that alert immune cells to recognize targets on cancer cells and kill them by binding to both the cancer cells and the T cells.  While earlier T cell engagers have succeeded in treating blood cancers, Deck Bio focuses on solid tumors where previous approaches have failed. Their lead molecule demonstrates strong potency and high safety, showing a response in patients with treatment resistance across lung, gastric, esophageal, liver, and head and neck cancers. Jack explains, "At Deck Bio, we're focused on next-generation cancer immunotherapies called T cell engagers and are working to engage a patient's immune response to shrink tumors, extend patients' lifespan, and deliver durable benefits in treating cancer. For T cell engagers, there's been a lot of excitement recently because, in 2022, we had the first-ever T cell engager approved for solid tumors. We're looking to build on these learnings, expand the reach of T cell engagers, and drive greater durable benefit."   "As you mentioned, these T cell engagers have been around for a while. With liquid tumors, there's a little bit of an easier problem to solve because, in terms of the cancer cells there, you're able to deplete them, and if you have any type of healthy tissue recognition of cells in your blood, that's not that terrible of a toxicity." "But in solid tumors, there's been a lot of failures in the field where people have tried to develop something against a solid tumor target that they thought was cancer-specific. Then, because of expression on other healthy tissues throughout the body, there were these dose-limiting toxicities. And just to level set in terms of what a T cell engager is, and help explain that, it's a bispecific molecule. What it most typically looks like is what people think of as an antibody, with that classical Y shape."  #DeckBio #TCellEngagers #Immunotherapy #Solidtumors #TumorHeterogeneity #ImmunoOncology #TCellEngagers #SolidTumors #CancerImmunotherapy #OncologyInnovation #MultiTargetTherapy #HemOnc deck.bio Listen to the podcast here

Jack Silberstein, CEO of Deck Bio, is developing next-generation T cell engagers designed to activate the patient's immune system to shrink tumors. These T cell engagers are bispecific molecules that alert immune cells to recognize targets on cancer cells and kill them by binding to both the cancer cells and the T cells.  While earlier T cell engagers have succeeded in treating blood cancers, Deck Bio focuses on solid tumors where previous approaches have failed. Their lead molecule demonstrates strong potency and high safety, showing a response in patients with treatment resistance across lung, gastric, esophageal, liver, and head and neck cancers. Jack explains, "At Deck Bio, we're focused on next-generation cancer immunotherapies called T cell engagers and are working to engage a patient's immune response to shrink tumors, extend patients' lifespan, and deliver durable benefits in treating cancer. For T cell engagers, there's been a lot of excitement recently because, in 2022, we had the first-ever T cell engager approved for solid tumors. We're looking to build on these learnings, expand the reach of T cell engagers, and drive greater durable benefit."   "As you mentioned, these T cell engagers have been around for a while. With liquid tumors, there's a little bit of an easier problem to solve because, in terms of the cancer cells there, you're able to deplete them, and if you have any type of healthy tissue recognition of cells in your blood, that's not that terrible of a toxicity." "But in solid tumors, there's been a lot of failures in the field where people have tried to develop something against a solid tumor target that they thought was cancer-specific. Then, because of expression on other healthy tissues throughout the body, there were these dose-limiting toxicities. And just to level set in terms of what a T cell engager is, and help explain that, it's a bispecific molecule. What it most typically looks like is what people think of as an antibody, with that classical Y shape."  #DeckBio #TCellEngagers #Immunotherapy #Solidtumors #TumorHeterogeneity #ImmunoOncology #TCellEngagers #SolidTumors #CancerImmunotherapy #OncologyInnovation #MultiTargetTherapy #HemOnc deck.bio Download the transcript here

Professor Linda Macomber, a healthcare tech consultant at Renaissance Health, highlights the transformative potential of AI and digital health solutions, as well as the shift from siloed, symptom-focused care to holistic, personalized medicine. AI applications in healthcare have moved from deterministic expert systems to generative AI models that use genomic and longitudinal data from wearables for continuous monitoring and preventive care. Linda emphasizes that successful AI implementation requires viewing technology as a strategic investment rather than an expense, with a focus on actions that improve patient outcomes and clinicians' quality of life. Linda explains, "Well, I've certainly been involved in all areas of the healthcare ecosystem over the past 40 years. For the past 16 years, I have been a professor at National University, starting the Master of Science and Health Informatics program. The 30 years prior to that, working in different areas of software design and development in the early days with SAIC and the Department of Defense, then Kaiser Permanente, University of California systems, and then some work with community health centers as well. I'm a life fellow in HIMSS, which is only a few people who have been around long enough to have that designation. But started my career as an ICU nurse and still hold on to the clinical informatics side, look at it from the lens of a healthcare professional, as well as the tech, educator, and startup perspective. Most recently, I have been working with a number of different startups."   "Well, certainly when it comes to the opportunities with AI in particular, things are moving so fast and looking at lots of different priorities and opportunities. When it comes to incremental change, it is always a little easier, but I think that opportunities are much bigger now for much more significant advancement of the care delivery system. Bringing care to people instead of people always having to travel to facilities for care, using digital systems in new ways to empower all of us, informing choice, and being much more proactive and personalized."  #LindaMacomber #HealthcareInnovation #DigitalHealth #HealthInformatics #AIinHealthcare #ClinicalInformatics #Genomics #Wearables #PopulationHealth #Interoperability #MedicalEducation Renaissance.Health Listen to the podcast here

Professor Linda Macomber, a healthcare tech consultant at Renaissance Health, highlights the transformative potential of AI and digital health solutions, as well as the shift from siloed, symptom-focused care to holistic, personalized medicine. AI applications in healthcare have moved from deterministic expert systems to generative AI models that use genomic and longitudinal data from wearables for continuous monitoring and preventive care. Linda emphasizes that successful AI implementation requires viewing technology as a strategic investment rather than an expense, with a focus on actions that improve patient outcomes and clinicians' quality of life. Linda explains, "Well, I've certainly been involved in all areas of the healthcare ecosystem over the past 40 years. For the past 16 years, I have been a professor at National University, starting the Master of Science and Health Informatics program. The 30 years prior to that, working in different areas of software design and development in the early days with SAIC and the Department of Defense, then Kaiser Permanente, University of California systems, and then some work with community health centers as well. I'm a life fellow in HIMSS, which is only a few people who have been around long enough to have that designation. But started my career as an ICU nurse and still hold on to the clinical informatics side, look at it from the lens of a healthcare professional, as well as the tech, educator, and startup perspective. Most recently, I have been working with a number of different startups."   "Well, certainly when it comes to the opportunities with AI in particular, things are moving so fast and looking at lots of different priorities and opportunities. When it comes to incremental change, it is always a little easier, but I think that opportunities are much bigger now for much more significant advancement of the care delivery system. Bringing care to people instead of people always having to travel to facilities for care, using digital systems in new ways to empower all of us, informing choice, and being much more proactive and personalized."  #LindaMacomber #HealthcareInnovation #DigitalHealth #HealthInformatics #AIinHealthcare #ClinicalInformatics #Genomics #Wearables #PopulationHealth #Interoperability #MedicalEducation Renaissance.Health Download the transcript here

Alec Ford, CEO of Karius, has developed an innovative approach to diagnosing infections in immunocompromised patients, using DNA sequencing of blood samples to identify over 1,300 causes of infection within 24 hours. Traditional diagnostic methods rely on hypothesis-driven testing and the cultivation of organisms. At the same time, the Karius approach enables faster, more targeted antibiotic treatment, reduces unnecessary broad-spectrum antibiotics, and can identify infections that may not be included in the initial diagnosis. Time to proper treatment is essential for vulnerable populations, including cancer patients, HIV-positive individuals, organ transplant recipients, and those undergoing autoimmune therapies.  Alec explains, "These are patients going through cancer treatment, patients with HIV, people going through solid organ transplantation, or people being treated assertively with autoimmune therapies for autoimmune disorders, where it may compromise their immune system. That really vulnerable patient is our exclusive focus as a company."   "So, a patient gets admitted to the hospital for an infection. They take a sample of that patient's blood. And what we can do is diagnose over 1,300 causes of infection by sequencing the patient's blood for viruses, parasites, bacteria, and fungi that could threaten the success of their cancer treatment or solid organ transplant. There's never been a test in the history of infectious disease that can test for any DNA-based organism, and we do so. We can return a result 24 hours after we receive the sample."   #Karius #InfectiousDisease #Diagnostics #Metagenomics #MedTech #KariusSpectrum #KariusFocus #NextGenSequencing #ImmunocompromisedCare #Oncology #TransplantMedicine #AntimicrobialStewardship #Genomics #MolecularDiagnostics #KariusTest #PatientSafety #HealthcareInnovation Kariusdx.com  Listen to the podcast here

Alec Ford, CEO of Karius, has developed an innovative approach to diagnosing infections in immunocompromised patients, using DNA sequencing of blood samples to identify over 1,300 causes of infection within 24 hours. Traditional diagnostic methods rely on hypothesis-driven testing and the cultivation of organisms. At the same time, the Karius approach enables faster, more targeted antibiotic treatment, reduces unnecessary broad-spectrum antibiotics, and can identify infections that may not be included in the initial diagnosis. Time to proper treatment is essential for vulnerable populations, including cancer patients, HIV-positive individuals, organ transplant recipients, and those undergoing autoimmune therapies.  Alec explains, "These are patients going through cancer treatment, patients with HIV, people going through solid organ transplantation, or people being treated assertively with autoimmune therapies for autoimmune disorders, where it may compromise their immune system. That really vulnerable patient is our exclusive focus as a company."   "So, a patient gets admitted to the hospital for an infection. They take a sample of that patient's blood. And what we can do is diagnose over 1,300 causes of infection by sequencing the patient's blood for viruses, parasites, bacteria, and fungi that could threaten the success of their cancer treatment or solid organ transplant. There's never been a test in the history of infectious disease that can test for any DNA-based organism, and we do so. We can return a result 24 hours after we receive the sample."   #Karius #InfectiousDisease #Diagnostics #Metagenomics #MedTech #KariusSpectrum #KariusFocus #NextGenSequencing #ImmunocompromisedCare #Oncology #TransplantMedicine #AntimicrobialStewardship #Genomics #MolecularDiagnostics #KariusTest #PatientSafety #HealthcareInnovation Kariusdx.com  Download the transcript here

Lisa Gurry, Chief Business Officer at GeneDx,  is transforming the diagnosis of rare diseases in children by providing comprehensive genetic testing. Using exome and genome sequencing, they deliver rapid, accurate results that enable early intervention and access to therapies. Through partnerships and a network of genetic counselors, GeneDx connects patients with specialists and clinical trials to ensure equal access for children and has established a comprehensive database that supports clinical care and drug development and helps identify previously undiagnosed or misdiagnosed conditions. Lisa explains, "The average diagnostic odyssey, or the time it takes to get a diagnosis, is tragically far too long for most families. It can take five years or more to get that diagnosis. And it's typically because the system tends to wait and see to provide the genetic tests that could give a diagnosis very quickly. At GeneDX, we've focused on exome and genome testing, which enables us to have a very comprehensive view across variants of potential diagnoses. And so that's our recommendation: any family that is experiencing a developmental delay has concerns with epilepsy, autism, or any number of genetic potential conditions. The beautiful part about a genetic test is that it can give you the answer you need to know what action to take." "It's remarkable how much science and technology have evolved. So we did our first exome test in 2011, and since then we've sequenced over one million exomes and genomes. So, a tremendous amount of progress has been made in the number of children that we've diagnosed. That's possible because science and technology have advanced, the cost of the test has dramatically reduced, and our ability to deliver that at scale is something that we've been investing in for the last 25 years."  #GeneDx #RareDisease #Genomics #Pediatrics #PrecisionMedicine #GeneticTesting #Epilepsy #GeneTherapy #RealWorldData #Biopharma #ClinicalTrials #HealthcareInnovation genedx.com Listen to the podcast here

Lisa Gurry, Chief Business Officer at GeneDx,  is transforming the diagnosis of rare diseases in children by providing comprehensive genetic testing. Using exome and genome sequencing, they deliver rapid, accurate results that enable early intervention and access to therapies. Through partnerships and a network of genetic counselors, GeneDx connects patients with specialists and clinical trials to ensure equal access for children and has established a comprehensive database that supports clinical care and drug development and helps identify previously undiagnosed or misdiagnosed conditions. Lisa explains, "The average diagnostic odyssey, or the time it takes to get a diagnosis, is tragically far too long for most families. It can take five years or more to get that diagnosis. And it's typically because the system tends to wait and see to provide the genetic tests that could give a diagnosis very quickly. At GeneDX, we've focused on exome and genome testing, which enables us to have a very comprehensive view across variants of potential diagnoses. And so that's our recommendation: any family that is experiencing a developmental delay has concerns with epilepsy, autism, or any number of genetic potential conditions. The beautiful part about a genetic test is that it can give you the answer you need to know what action to take." "It's remarkable how much science and technology have evolved. So we did our first exome test in 2011, and since then we've sequenced over one million exomes and genomes. So, a tremendous amount of progress has been made in the number of children that we've diagnosed. That's possible because science and technology have advanced, the cost of the test has dramatically reduced, and our ability to deliver that at scale is something that we've been investing in for the last 25 years."  #GeneDx #RareDisease #Genomics #Pediatrics #PrecisionMedicine #GeneticTesting #Epilepsy #GeneTherapy #RealWorldData #Biopharma #ClinicalTrials #HealthcareInnovation genedx.com Download the transcript here