Empowered Patient Podcast

Professor Sir Peter Donnelly, Founder and CEO of Genomics plc, aims to use cutting-edge polygenic risk scores to identify inherited DNA mutations and genetic predispositions that could lead to common diseases. In partnership with the MassMutual life insurance company, Genomics offers a voluntary test that provides personalized risk measures and advice about conversations with clinicians. If the policyholder stays healthy longer, the insurance company will get paid more premiums before paying out to survivors. Win-win all the way around. Peter explains, "Until a few years ago, if I had the entire DNA sequence from a 40-year-old who's currently healthy, I'd have learned something interesting and medically actionable in maybe 1% or 2% of cases. That's because genetics has played into medicine through diseases where there's a single change in our DNA, called a mutation, which often stops a crucial gene from working. Think cystic fibrosis or Huntington's disease. Those are conditions that are individually serious. They're rare individually, thankfully, and actually, they're collectively rare. And so until a few years ago, and now still very much the case, genetic testing was about looking for those needles in haystacks, those one or two single places that caused a problem." "Now, if I have genetic information from a 40-year-old who's healthy, I learn something medically useful in about 70% of cases. So, that massive change from 2% to 70% is because we can now measure the genetic component of risk for all of the common diseases, as I said, for heart disease, diabetes, breast cancer, or prostate cancer." "What we've learned is that for any one of those diseases, if we take heart disease as an example, there's not one gene that matters for heart disease. There aren't two genes. There are a million or more places in our DNA individual positions in our DNA, which affect someone's risk of heart disease. And we've now got large enough data sets and clever enough algorithms to measure those places and combine the information to get an overall summary for someone of their genetic predisposition to heart disease." #Genomics #Genetics #PRS #PolygenicRiskScores #DrugDiscovery #Biopharma genomicsplc.com Download the transcript here

Oren Nissim, CEO and Co-Founder of Brook Health focuses on loneliness and its impact on individuals with chronic conditions, especially when access to support is limited. Societal stigma and guilt associated with chronic conditions often contribute to loneliness, which can include depression, lack of agency, and a sense of being alone. Brook Health provides nonjudgemental support to patients with chronic diseases using a combination of human interaction with health coaches and technology to help patients manage their conditions. Oren elaborates, "I think that people who live at home with a condition need great support, and the reality is that they don't always have access to great support. Even if they do have great support, they still go home and have to live with it themselves - it drives people to feel lonely. I can tell you from my personal experience that I've been living with diabetes for a very long period of time, and the reality is that living with a chronic condition is a very lonely thing to do." "It's interesting that you raise that because society, for a long period of time, has been characterizing having a chronic condition like diabetes or hypertension as you're not taking good care of yourself. "You should avoid this. You should have a better way to manage yourself." The reality is that for most people who have contracted these conditions, nobody chose to be there. And so, by virtue of that type of conversation, you end up feeling, "Oh, I'm not responsible enough. I haven't done what I should have done. I could do better, and I should do better." Very penalizing thoughts, and society judges people in this way. And, of course, that leads to loneliness as well. Again, we don't want to be celebrating our failures outside. It's not easy to do." #BrookHealth #RemotePatientMonitoring #Loneliness #MentalHealth #BehavioralHealth #PublicHealth #ChronicDisease #AI Brook.ai Download the transcript here

Kent Wakeford, Co-CEO and Co-Founder of Form Bio, a company that provides computational solutions to scientists who are focused on cell and gene therapy to accelerate drug discovery and development, reduce costs, and ultimately make treatments more affordable for patients. Form Bio's in silico platform utilizes computational biology tools, bioinformatics, machine learning, and AI to process large amounts of open source data to provide insights to scientists to help them solve critical challenges. They are committed to supporting the rare and ultra-rare disease community and offer their tools to patient advocacy groups for free. Kent explains, "There are a lot of bumps. The production, scaling up, and cost of gene therapies are major obstacles to their widespread success. As we've seen in small molecule, target identification is one of the key challenges, and there's been a lot of breakthroughs in AI, and computational analysis that have helped scientists find those targets." "In cell and gene therapy, it's different. It's a little bit easier to find the gene of interest that you want to try and work on. Still, it is harder to design and ultimately develop the gene therapy that can scale, have limited immunotoxic impact, and provide the therapeutic outcome at the right place and strength in the body." "Training a platform is one of the most critical areas for an AI or a computational company. Our team of incredible AI scientists from some of the greatest academic labs went out and pulled together all the available data in the open-source market. And to be honest, there's a lot, but it's not that helpful when you're trying to get very specific scientific outcomes." "And so, we partnered with a number of leading academic institutions where we commissioned and paid for scientific research that produced data that we can then train models on. We looked at specific genes of interest for major therapeutic areas and then looked at all the regulatory elements to understand the different interactions. We can understand if you were to change one element of this, what happens to the rest of the therapeutic? What happens to expression, what happens to tropism, what happens to the packaging and manufacturability of that drug?" #FormBio #AI #ML #ComputationalBiology #DrugDiscovery #ClinicalTrials #DrugDevelopment #CellTherapy #GeneTherapy #RareDiseases formbio.com Download the transcript here

Ram Krishnan, CEO of Valant, works with therapists, psychologists, psychiatrists, and nurse practitioners in the outpatient behavioral healthcare environment, which has significant unmet needs that can be addressed with technology. Scaling a mental health practice differs from other medical practices due to the frequency of visits and the need for individualized care with the most effective therapist. Virtual visits and telehealth are helping providers bridge the gap between physical and mental health, and generative AI is showing promise in diagnosing and maintaining behavioral health. Ram explains, "This has been a market that has evolved over the last 25 years because so much has changed with our overall perception of the value and importance of mental health. This is a market that was primarily rarely covered by insurance, and employers rarely demanded coverage for their employees. Therefore, it was a cash-based business for most of its existence." "But over the last ten years, as the stigma for mental health has started to fade, and people are more outspoken about mental health challenges that they're facing, whether it's celebrities or athletes, it's just made its way to the forefront. So employers, first and foremost, have begun to demand that the payers offer their services, and that's where it starts. Payers then, in turn, begin to look for coverage. Now you have a market that was built for cash working its way into the insurance model. Finding itself subscale, they are now looking to build to scale so that it can have the systems and structures required to be able to swim into the larger waters of the US healthcare system with the insurance and payer process. And so, you have a lot of practices that have a lot of catching up to do with respect to adopting technology, and quite frankly, just process." #Valant #MentalHealth #BehavioralHealth #BehavioralHealthEHR #PracticeManagement #PatientPortal #Telehealth Valant.io Download the transcript here

Fadi Micaelian, CEO of Sparkdit, and Dr. Andrew Fang, Chief of Orthopedics at Kaiser South San Francisco, have joined together to help patients and doctors make better treatment decisions by considering trade-offs and patient preferences. The platform can help reduce bias and incorporate patient desires into care while considering comorbidities and other factors that may affect treatment decisions. Fadi and Andrew agree that collaboration between technologists and clinicians is essential for advancing the use of AI in healthcare to augment human intelligence and improve outcomes. Fadi explains, "At Sparkdit, our mission is to teach computers to think like humans. To do so, we've taught computers to think with trade-offs. So humans universally think the same way. It doesn't matter where they're coming from. We all think the same way. Whenever we have a decision, we have a set of criteria that we take into account. We think in a certain way of each criterion, and then we apply on top of that a set of trade-offs. Trade-offs are core to the way we make decisions. Now, when you apply that to healthcare, that's not a domain that I'm an expert in. There was a set of doctors led by Dr. Fang at Kaiser who discovered and invented a new way of applying that technology to healthcare." Andrew elaborates, "I think the potential benefits of AI are that they can augment the doctor/patient relationship. It's really important that we maintain this human connection with our patients, but is there a way that AI can help us make better decisions, achieve better outcomes, and incorporate some of the things that patients want in their care more easily?" #Sparkdit #MedAI #AI #DigitalHealth #MedTech #Orthopedics #PatientDecisions #DecisionIntelligence sparkdit.com Download the transcript here

Sufian Chowdhury, CEO of Kinetik, highlights how the non-emergency medical transportation industry, which has about 20,000 local transportation providers and over 400,000 drivers, plays a pivotal role in the healthcare continuum. Kinetik is bringing digital tools to this environment to provide scheduling and real-time information to an industry that currently relies on the phone. The goal is to make the system more efficient, reduce waiting times for patients and drivers, and ensure that drivers get paid promptly for these rides Medicaid covers. Sufian explains, "These are pre-planned rides. This industry is non-digital. You have to liken the state of this industry to what the taxi industry was in the '90s. It's a lot of telephonic communication. Not a lot of these transport companies are using technology. Because of that, the scheduling becomes very cumbersome, and some members have to request these rides three or four days in advance, not by choice but just because of the broken structure of this industry. We're trying to fix that with Kinetik by digitizing it so that these rides can become real-time rides." "One of the biggest challenges and how Kinetik started the genesis of Kinetik is to initially address the billing problem that transport providers were facing. They would send out claims and get paid every 60 to 90 days, yet they would have to pay their drivers every seven days. These are small businesses that struggled mightily when it came to cash flow management. So, the first problem we solved, as we entered this market about seven years ago, was to build a billing platform that allowed these transport providers to get paid on time or instantly. That was our initial goal." #Kinetik #NonEmergencyMedicalTransportation #NEMT #DigitalHealth kinetik.care Download the transcript here

Piotr Orzechowski, CEO of Infermedica, works with health insurance companies, technology partners, public payers, and ministries of health to provide digital care navigation tools that enhance the patient experience with a healthcare provider. The highlight is the development of digital front door technology to support patients in finding appropriate care. Using an AI-powered care interface, symptoms can be evaluated, questions answered, and guidance offered for care options, including self-care at home. When appropriate, AI-based decision support tools guide nurses through phone conversations to triage and determine immediate actions that should be taken. Piotr explains, "We have developed a clinically validated symptom-checking tool powered by AI. I will explain it in a second. But most importantly, it's curated by a team of 50 physicians. So, every single day, our group of doctors performs different tasks related to clinical validation and content updates, and using this content, we create probabilistic models that try to resemble the way doctors would triage patients." "We've spent more than 12 years of joint work between our medical teams, data scientists, and algorithm developers to establish one of the most versatile and accurate probabilistic models for current primary diseases. We currently have more than 120,000 hours of doctors who work on this medical content that's behind our technology." "The way it works is that there are two main use cases and two main ways we provide our technology, and it's very straightforward. The first approach is we have a patient-facing app. So when you are feeling unwell, or maybe somebody in your family is feeling unwell, we guide you through a very simple process. You can provide your demographics, basic risk factors and chief complaints, and based on that, we engage in a sequence of questions to learn more about underlying causes. So, if you ever played 20 Questions, this is more like a 20-question flow, but, of course, for medical problems. After about 10 to 15 questions, our AI engine knows enough to propose the right triage level and even the most likely conditions." #Infermedica #DigitalHealth #DigitalHealthcare #HealthCareAI #DigitalFrontDoor #PatientEngagement #Triage #CallCenter #SymptomChecker #HealthTech Infermedica.com Download the transcript here

Dr. Oren Cohen, President of Clinical Pharmacology and Chief Medical Officer at Fortrea, a global CRO spun-off from Labcorp, discusses the contract research environment and how it continues to change to meet the need for increased productivity in the development and testing of new drugs, devices, and treatments. One key goal is to work in close partnership with clients to include the patient's voice in trial design to increase diversity, drive recruitment, and improve retention. Oren explains, "I think with all the pressure the industry is under productivity pressure, that's changed massively. It's a very heavy responsibility because we are entrusted with developing very precious intellectual property that represents the next generation of therapeutics for patients affected by all the diseases out there, from rare diseases to cancer to neurodegenerative diseases like Alzheimer's. It's a very exciting time. I think the science is moving very quickly, and we have the good fortune to be working on some very promising and super interesting potential products." "There's lots of innovation in every aspect of clinical trials, from design through process and execution to analysis. So yes, all that is on the table. I would say that our preferred method of engagement is to partner with our clients to get to the best place in terms of what advances science. What is necessary from a regulatory perspective to push a product along toward approval, to show its mettle? What is best for patients and sites responsible for recruiting them?" "It's a natural marriage because our sponsors, the biopharmaceutical companies we serve, obviously have the best expertise for the particular molecule they're studying. They've potentially discovered it, they have it in their portfolio, and they obviously know a lot about it." #Fortrea #ClinicalTrials #DrugDevelopment #PatientVoice #ClinicalTrialDesign #CRO #ContractResearchOrganization fortrea.com Download the transcript here

Dr. Will Chou, President and CEO of Passage Bio, is developing gene therapies for neurodegenerative diseases, with their lead product being PBFTO2, an AAV gene therapy for a specific genetic variant of frontotemporal dementia. They are also exploring the potential of raising progranulin levels to help patients with other neurodegenerative diseases. Passage Bio's gene therapy, utilizing AAV as the vector, is delivered through an ICM injection into the cisterna magna, bypassing the blood-brain barrier. Will explains, "What we're doing is a little unique. We are starting in the normal way gene therapies approach this, which is we have a patient population with a specific genetic deficiency. They have frontotemporal dementia caused by a mutation in the granulin gene, in the GRN gene, which means they are deficient in creating a protein called progranulin. Our gene therapy product replaces that progranulin, and by replacing what they don't have enough of, we hope to stop the neurodegenerative decline from this disease." "But what is interesting about progranulin is that a growing amount of research shows that progranulin and raising progranulin in general can be neuroprotective across other neurodegenerative diseases as well. We will be pursuing this progranulin-raising one-time gene therapy, not just in patients who have that specific genetic deficiency in the GRN gene. Also, in other patients, such as patients with ALS and patients with other gene deficiencies with FTD where progranulin and raising progranulin could help their neurodegeneration. So in that way, this is a unique approach to gene therapy. Usually, you have one product and can only help a limited group of patients. Here we're looking to use the single product and try and help multiple populations of patients with neurodegenerative disease." #PassageBio #GeneticMedicines #NeurodegenerativeDiseases #AAVs #FrontotemporalDementia #Progranulin #GRNGene passagebio.com Download the transcript here

Ben Zimmer, CEO of Priovant Therapeutics, focuses on developing therapies for rare autoimmune diseases specifically dermatomyositis, which affects the skin, muscles, and organs, and non-infectious uveitis, a severe ocular inflammatory condition. While these conditions are symptomatically different, mechanistically, they have features in common related to the underlying pathology of the diseases. The drug in development is an oral once-daily therapy that addresses the inflammatory conditions and cytokines driving the pathology. Ben explains, "During COVID, there was a lot of talk about the cytokine storm and these are molecules involved in immune cell signaling. So, they're basically ways that different types of immune cells signal to each other to do different things. There's a large variety of different cytokines and some autoimmune diseases. There are only maybe one or two cytokines or a small number that are driving the pathology of the disease." "Both dermatomyositis and non-infectious uveitis are highly inflammatory conditions with a lot of different pathogenic cytokines, a lot of different inflammatory axes involved. And so, one of the neat things about our drug, brepocitinib, is that it works on a set category of enzymes called JAKs, and then there are four different types of JAKs, JAK1, JAK2, JAK3, and you might guess JAK4, but it's actually called TYK2. And our drug inhibits TYK2 and JAK1. And by doing that, it suppresses the signaling of a large number of different cytokines." "Uveitis and dermatomyositis have a number of overlapping pathogenic cytokines involved, as well as some different cytokines, but they are both suppressed through the inhibition of TYK2 and JAK1, which our drug does. So, our thesis is to find these highly inflammatory indications, highly inflammatory diseases with high morbidity, which can be expressed in many different organ systems." #PriovantTherapeutics #RareDisease #OrphanIndication #Uveitis #NIU #Dermatomyositis #JAK1 #TYK2 priovanttx.com Download the transcript here