Sano Genetics

🎙️Tune in to Episode 233 of #TheGeneticsPodcast 🚀 This week, we’re joined by Dr. Tim Jobson, consultant physician and gastroenterologist at Somerset NHS Foundation Trust and Medical Director of Predictive Health Intelligence (PHI) – both our partners in the LiveWell research study. Listen in to hear about the rising burden of metabolic liver disease, how routine clinical data can be used to detect disease earlier and prevent late-stage presentation, and how layering genetics and other data types could improve risk stratification and clinical trial recruitment. Available here👇 🎧 eu1.hubs.ly/H0t9vxd0 📽️ eu1.hubs.ly/H0t9wb70 #Genetics #PrecisionMedicine #DiseasePrevention #LiverDisease

🧬 Genetic testing is the step at which many precision trials lose patients before they are even eligible. In rare disease studies, recruitment depends on patients understanding and completing genetic testing. When that step is unclear, uptake drops and the eligible pool shrinks. This creates a bottleneck that impacts enrollment timelines, cost per patient, and overall study feasibility. In this blog, we outline common mistakes sponsors make around genetic literacy and what it means for trial execution. 📖 Learn more here: eu1.hubs.ly/H0t3z_M0 #GeneticTesting #PrecisionMedicine #RareDisease

🧬 In precision trials that require genetic testing as part of the pre-screening process, the highest drop-off doesn’t happen where you might think. Kit return rates are often strong once a participant orders a kit. The real bottleneck is earlier, between eligibility and action. That moment determines whether interest turns into participation or disappears. We looked at what actually drives that decision across several rare disease and precision medicine studies that we have supported. Effort, clarity, relevance, trust, and timing all shape whether participants move forward. Small improvements at this stage can translate into faster enrollment, lower costs, and more complete datasets. 📖 Read the full breakdown here: eu1.hubs.ly/H0t1P0r0 #GeneticTesting #PrecisionMedicine #GeneTherapy #PatientEngagement

🎙️Tune in to Episode 232 of #TheGeneticsPodcast 🚀 This week, we’re joined by Dr. Glenn Cohen, Professor at Harvard Law School. Listen in to hear why reproductive genetics remains largely unregulated despite rapid advances, how AI is introducing new challenges around liability and real-world implementation in healthcare, and what a practical risk–benefit framework for deploying these technologies actually looks like in clinical settings. Available here👇 🎧 eu1.hubs.ly/H0s_4S00 📽️ eu1.hubs.ly/H0s_4FT0 #Genetics #Bioethics #HealthLaw #ReproductiveGenetics #PrecisionMedicine

The future of precision medicine might sit at the intersection of genetics and real-world data. We recapped our recent conversation on The Genetics Podcast with Dr. Andrea Ganna, Associate Professor at the Institute for Molecular Medicine Finland (FIMM). Key takeaways include: ✅ Where polygenic scores deliver in clinical settings and where they fall short ✅ Why EHR foundation models are an exciting frontier right now ✅ The challenges of trial emulation and endpoint alignment in drug development 🔗 Link to the blog in the comments. #TheGeneticsPodcast #Genetics #ClinicalTrials #RealWorldData #PrecisionMedicine

Our Head of Clinical Genetics, Dr. Katie Barnes, spoke at Seqera Sessions in London last week about a challenge that continues to shape rare disease trials: connecting the right patients to the right studies at scale. One of the key takeaways was that this is not just a recruitment problem. It is an infrastructure problem. As trials become more genetically stratified, success depends on: ✅ Scalable access to genetic testing ✅ Seamless integration with clinical workflows ✅ Reproducible, auditable bioinformatics pipelines Katie shared how taking a more structured, end-to-end approach can reduce complexity and improve efficiency, with measurable impact on timelines and data quality. 📖 Read the key takeaways here: eu1.hubs.ly/H0sTR4P0 #Genomics #ClinicalTrials #RareDisease #Bioinformatics

🎙️Tune in to Episode 231 of #TheGeneticsPodcast 🚀 This week, we’re joined by Dr. Andrea Ganna, Associate Professor at the Institute for Molecular Medicine Finland (FIMM). Listen in to hear how polygenic risk scores can be used to study disease risk and clinical trials, why large-scale electronic health record data is opening new opportunities for AI in medicine, and how trial emulation can be used to recreate randomized clinical trials using real-world health data. Available here👇 🎧 eu1.hubs.ly/H0sP8Yt0 📽️ eu1.hubs.ly/H0sP7KL0 #Genetics #Biobanks #Genomics

📣 We’ve partnered with Predictive Health Intelligence on the LiveWell study, with a simple goal: identify people at risk of metabolic liver disease earlier using data that already exists within the NHS. Today, we’re excited to share that the study has completed recruitment, enrolling 996 participants from a single NHS site in under a year. By combining longitudinal blood test data, genetic testing, and a fully digital participant experience, LiveWell shows it’s possible to find and engage the right patients at scale. This is a big step toward a more proactive, data-driven model of clinical research and care. We're proud to be part of it alongside PHI, Somerset NHS Foundation Trust, and Tawazun Health with support from Innovate UK, . 🔗 Learn more in the press release here: eu1.hubs.ly/H0sLY8N0 #PrecisionMedicine #LiverDisease #GeneticTesting #PatientRecruitment

Genetically stratified trials break down at the same point: too many patients screened, too few who actually meet protocol after testing. In two Parkinson’s programs, we focused on identifying true eligibility earlier in the pathway and building recruitment around that signal. Selected highlights from each study: ✅ 85% of genetically confirmed participants referred to sites ✅ First GBA1+ patient identified within 6 weeks ✅ Testing volume increased mid-program based on observed hit rates ✅ 44% of randomizations came from activated sites ✅ 16 patients dosed to date By surfacing high-quality matches early, sponsors were able to expand with confidence and move patients through to dosing faster. For teams running genetic trials, the question is how quickly you can prove that the patients you are finding are truly eligible. 🔗 Read the full report here: eu1.hubs.ly/H0sKz3x0 #GeneticTesting #PrecisionMedicine #ParkinsonsDisease

🧬 Genome sequencing is already transforming rare disease diagnostics in some countries. The harder question now is how to turn that infrastructure into better interpretation, better trials, and ultimately better treatments. Our latest recap from The Genetics Podcast explores this through a conversation with Dr. Anna Lindstrand, Professor of Clinical Genetics and Genomics at Karolinska Institute and director of the clinical genomics diagnostic lab at Karolinska University Hospital. Anna shared how Sweden has implemented clinical genome sequencing at scale and what the next phase of genomic medicine may look like. As genomics becomes routine in healthcare, interpretation, infrastructure, and coordination will determine how much clinical impact these technologies actually deliver. 📖 Read the recap or listen in full here: eu1.hubs.ly/H0sHq_W0 #TheGeneticsPodcast #Genomics #ClinicalGenetics #RareDisease

What does strong patient engagement in rare disease trials actually look like? We analyzed feedback from participants across six studies supported through the Sano platform to understand what drives engagement and retention in genomic medicine research. A few benchmarks stood out: ✅ 85% said study instructions were clear or very clear ✅ 72.8% were satisfied with participant support ✅ 72.7% reported improved understanding of their condition ✅ Emails achieved a 73% open rate (3x industry averages) The data highlights practical lessons for rare disease and precision medicine studies: clear communication, accessible education, and responsive support all improve participation and long-term engagement. 📖 Read the blog here to explore the full benchmarks and key lessons: eu1.hubs.ly/H0sDY-M0 #PrecisionMedicine #RareDisease #GeneTherapy #PatientEngagement #PatientRecruitment

🎙️Tune in to Episode 230 of #TheGeneticsPodcast 🚀 This week, we’re joined by Dr. Anna Lindstrand, Professor and Consultant in Clinical Genetics and Genomics at the Karolinska Institute. Listen in to hear how Sweden made whole genome sequencing first-line for rare disease, what long-read sequencing is really adding to clinical diagnostics, and how national genomic infrastructure is reshaping precision medicine and prevention at scale. Available here👇 🎧 eu1.hubs.ly/H0sBndS0 📽️ eu1.hubs.ly/H0sBq0Q0 #Genetics #RareDisease #Genomics #PrecisionMedicine

🗣️ If you imagine having a patient in your ear while you are developing a therapy, you might make very different decisions. In this clip from our recent Rare Disease Day webinar, patient advocate and entrepreneur Jimi Olaghere shares why access cannot be an afterthought in rare disease drug development. Too many therapies are created without a clear path to the people who need them. Years later, some end up shelved while others are repurposed by new companies trying to bring them back to patients. 🔗 Links to the on-demand webinar and a recap blog with key takeaways in the comments. #RareDisease #CellTherapy #GeneTherapy #PrecisionMedicine #DrugDevelopment #PatientEngagement #PatientAdvocacy

Rare disease trials can fail when feasibility starts in the wrong place. Most sponsors begin by selecting sites and estimating patient numbers from epidemiology or investigator-reported counts. That approach introduces uncertainty from the start, especially in rare and genetic diseases where diagnosis depends on genomic confirmation and patient populations are small. A better model starts with patients, not sites. Patient-first feasibility identifies individuals who meet genotype and phenotype criteria first, then evaluates which sites can actually support those patients, from diagnosis and enrollment to endpoint assessments and long-term follow-up. This shift changes how sponsors evaluate sites and can significantly improve enrollment predictability and data quality. In this blog, we break down the practical criteria sponsors should evaluate when selecting sites for rare and genetic disease trials. 🔗 Link in the comments below. #RareDisease #PrecisionMedicine #GeneTherapy #ClinicalTrials

🧬 Genetic screening can identify risk for hundreds of inherited diseases. Yet most people never encounter it until they are already pregnant or facing a medical crisis. We recently spoke with Dr. Matthew Goldstein, CEO of jscreen, on The Genetics Podcast. His perspective on screening is shaped by both his work in biotech and the loss of his daughter to Tay-Sachs disease after an error in carrier testing. We’ve now published a recap blog that focuses on one of the key ideas from the conversation: the gap between what genetic screening can do and how rarely it is used in preventive care. 🔗 Learn more here: eu1.hubs.ly/H0sr-th0 #TheGeneticsPodcast #GeneticTesting #CarrierScreening

In rare disease drug development, scientific innovation is only part of the equation. In our recent Rare Disease Day panel, one theme surfaced repeatedly: many rare disease programs do not struggle because the science fails. They struggle because access, infrastructure, and trial design realities were not addressed early enough. A few insights that stood out for drug developers: 💡 Recruitment challenges are often locked in at protocol lock. Engagement before that stage directly affects timelines and amendment risk. 💡 Access is a development variable. Manufacturing models, delivery settings, and monitoring requirements determine scalability long before approval. 💡 Trial burden is not theoretical. Visit schedules, geography, and caregiver load shape enrollment and retention. 💡 Regulatory strategy and patient engagement are intertwined. Early collaboration strengthens both submissions and payer alignment. Read the blog with key takeaways here: eu1.hubs.ly/H0sjJ6k0 #RareDisease #PrecisionMedicine #CellandGeneTherapy

🎙️Tune in to Episode 229 of #TheGeneticsPodcast 🚀 This week, we’re joined by Dr. Matthew Goldstein, CEO of jscreen. Listen in to hear how a devastating personal loss reshaped his mission to expand access to carrier screening, why preventive genomics still isn’t standard of care despite extraordinary technological advances, and what it will take to close the gap between what genetic testing can do and what healthcare actually delivers. Available here👇 🎧 eu1.hubs.ly/H0slJC60 📽️ eu1.hubs.ly/H0slBB90 #Genetics #RareDisease #Genomics #PrecisionMedicine #CarrierScreening

In the latest episode of The Genetics Podcast, Ryan Dhindsa and Caleb Lareau describe how they used UK Biobank data to quantify Epstein-Barr Virus (EBV) persistence. Instead of stopping at human variant calls, they went back to the raw sequencing reads and asked what was hiding in the unmapped fraction. By aligning those reads to the EBV genome and validating against serology data, they created a population scale measure of latent viral burden in blood. What did that unlock? 🧬 Clear associations with autoimmune diseases such as lupus and rheumatoid arthritis 🧬 A measurable host genetic architecture, centered on HLA 🧬 A more nuanced view of EBV’s role across diseases, where chronic persistence may matter in some conditions more than others Large biobanks already contain far more biological signal than we routinely extract. The constraint is often analytical, not biological. 🔗 Read the blog recap here: eu1.hubs.ly/H0sfbgP0 #TheGeneticsPodcast #EpsteinBarrVirus #Biobanks #Genomics