Site disengagement can be a major barrier to successful and timely trial execution. A significant contributor to disengagement is overloading sites with redundant processes and technologies that are not cross-compatible. Accordingly, careful consideration of systems and tools can enhance site adoption and subsequent engagement.
Clinical trial recruitment is notoriously difficult – and nowhere is this more acute than at the referral stage. When a participant who looks potentially eligible is referred by a patient advocacy group, HCP, or site, it is not uncommon for them to fall out of touch before enrolling. Manual handoffs, scattered systems, and limited visibility are common culprits.
In the most recent episode of the Genetics Podcast, Patrick spoke with Helen O’Neill, a molecular geneticist who is the founder of Hertility Health and an associate professor at University College London (UCL). They discuss how Helen’s experience as an identical twin sparked her interest in genetics, her firsthand account of the CRISPR baby controversy, and why stubborn perceptions and sensational headlines continue to cast a shadow over the gene editing field, despite major scientific progress.
Fostering and maintaining a high standard for site engagement are key priorities for sponsors as they can enhance the likelihood of effective and timely trial execution. However, as clinical trials become more innovative and tech-integrated, the level of effort and perceived barriers at sites can also increase. In this blog, we cover site barriers related to technology fatigue and enablers that could help alleviate site burden.
Despite continued progress in rare disease research, only 5% of rare diseases have an FDA-approved treatment, leaving many patients with limited therapeutic options and delayed access to trials. One of the most persistent challenges in orphan drug development is identifying and reaching eligible patients, particularly given the small and geographically dispersed populations involved. Traditional site models and recruitment strategies are frequently insufficient and impractical in these settings. However, recent advances in AI, genetic screening, and flexible site activation models are creating new opportunities to improve both reach and speed.
While there have been significant strides in the development of drugs for rare diseases over the past few decades, only 5% of rare diseases have FDA-approved treatments. This scarcity of orphan drugs – defined as medications that treat rare diseases that affect less than 200,000 individuals in the US – leaves many patients waiting years for life-saving treatments. Orphan drug development is hampered by various challenges, such as business concerns over pricing and demand, small patient populations limiting clinical trials, and complex regulatory pathways that slow down approval.
In the most recent episode of The Genetics Podcast, Patrick speaks with Dr. Madhuri Hegde, SVP and Chief Scientific Officer at Revvity. Madhuri’s work has helped shape how genetic technologies, from next-gen sequencing to mass spectrometry, are applied in clinical practice around the world. Their conversation covers the evolution of newborn screening, the promise of whole genome sequencing at birth, and the infrastructure needed to make this work on a global scale.
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In a recent episode of The Genetics Podcast, Patrick Short sits down with Dr. Euan Ashley, Chair of Medicine at Stanford University, author of The Genome Odyssey, and co-founder of various biotech companies. Euan’s work ranges across ultra-rapid genome sequencing, generative AI for drug development, and even the molecular basis of elite athletic performance.
In a recent episode of The Genetics Podcast, Patrick spoke with Kent Rogers, CEO of EveryONE Medicines, about the future of individualized medicines, especially in ultra-rare diseases. With over 30 years in the pharmaceutical and healthcare sectors, spanning big pharma, payers, biotech, and venture capital, Kent shared how his experience has positioned him to take on one of medicine’s most urgent and complicated challenges: developing scalable treatments for conditions that affect only a handful of patients worldwide.
Precision medicine has the potential to transform how we understand and treat autoimmune and inflammatory diseases, but only if we can align innovation with infrastructure.
Here, we outline a strategic framework designed to help pharma and biotech leaders navigate the evolution of autoimmune and inflammatory disease treatment. From integrated data ecosystems and cross-disciplinary partnerships to smarter clinical trial design and equitable access models, we explore the foundational steps needed to bring precision medicine into real-world care for these complex immune conditions.