Illumina is a leading biotechnology company specializing in next-generation sequencing (NGS) and genomic analysis, enabling advancements in precision medicine, diagnostics, and life sciences research.
Jacob, could you tell us a bit about yourself and what brought you to Illumina?
I am from Denmark, with a background in physics, holding a PhD in the field. Early in my career, I ventured into a startup based on my PhD work and later worked in management consultancy. My transition into the healthcare space began when I joined a cancer diagnostic company as Chief of Staff. That role sparked a deep passion for cancer diagnostics—being part of the journey where patients receive life-changing diagnoses and helping quickly identify the specifics of their cancer felt incredibly meaningful
After that company was acquired by Agilent Therapeutics, I moved to the U.S. in 2013 to run their genomics business. Though I was not a genomics expert initially, I was captivated by the field and its rapid advancements. I spent the next decade at Agilent, which gave me a wealth of experience in genomics. When the opportunity at Illumina came in 2023, it felt like a calling to lead in a space where genomics can revolutionize healthcare and address unmet medical needs. Illumina’s pivotal role in understanding the genome and advancing healthcare was a mission I could not resist.
To what extent has Illumina’s work on next-generation sequencing (NGS) enabled the development of precision medicine?
Illumina’s role in NGS has been foundational in precision medicine. Many diseases, including cancer, are fundamentally driven by changes in the genome. Genomic insights enable clinicians to move from broad treatments like chemotherapy to targeted therapies based on specific genetic alterations. For instance, identifying genomic profiles of cancers can help match patients to the right treatment faster and more effectively.
However, there is still a gap in adoption. In the U.S., for example, only about 40% of cancer patients receive genomic profiling, leaving a significant portion at risk of suboptimal treatment. Challenges include a lack of expertise in smaller healthcare settings, hesitation due to unfamiliar side effects of new treatments, and limited understanding of genomic profiling’s implications. As an industry, we need to focus on training and educating both clinicians and patients to fully embrace these advancements, not only in cancer but also in other areas like cardiovascular disease, where genomic insights remain underutilized.
What is Illumina currently working on to address these challenges?
We are focused on several key advancements. First, we continue to drive down the cost of sequencing—once $100,000, now as low as $200—making it accessible in clinical settings. Simplifying workflows is another priority, ensuring the process from sample collection to result interpretation is seamless and less reliant on manual steps. Additionally, we are leveraging generative AI to streamline the interpretation of vast genomic data, turning complex information into actionable insights for healthcare practitioners.
Another exciting area is our collaboration with pharmaceutical companies on large-scale genomic studies. For example, we are profiling 250,000 patients, combining their genomic data with over a decade of healthcare records. This integration allows us to stratify populations and explore why certain individuals respond differently to treatments, like statins. By building AI models to analyze these datasets, we can accelerate drug discovery and development, ultimately enhancing the precision and success rates of new therapies.
How is genomics supporting advancements in early detection and prevention of diseases?
Early detection is crucial in improving outcomes, particularly for cancer. Identifying cancers in stages 1 or 2 dramatically increases the chances of successful treatment compared to later stages. Molecular and genomic profiling play an essential role here, enabling earlier and more accurate detection. While significant progress has been made in cancer treatment, early detection remains underfunded.
Beyond cancer, genomics holds promise for detecting and preventing other diseases. For instance, cardiovascular conditions with genetic underpinnings could benefit greatly from similar approaches. By shifting focus from treating diseases to preventing them, genomics can redefine healthcare. This shift requires broader adoption of genomic technologies and deeper integration into routine clinical care, which Illumina is actively championing through its innovations and partnerships.
Could you introduce the concept of multiomics and explain why it excites you?
Multiomics represents the integration of various biological data types, such as genomics, transcriptomics, epigenomics, and proteomics, to provide a deeper understanding of biology. While genomics remains the foundation, we have learned that genomic data alone is often insufficient to fully understand biological systems. By combining these layers of information, we gain more comprehensive insights into how biological mechanisms function. Historically, this was challenging due to the immense data volumes generated and limitations in computational power. However, advancements in technology and AI now allow us to interpret this data effectively.
With the ability to analyze genomic, RNA, epigenetic, and proteomic data on a single platform, we are entering a transformative era. This approach is poised to revolutionize our understanding of biology, drug discovery, and disease treatment. The complexity of biology is increasing, but the tools to navigate it are evolving rapidly. Over the next decade, this integration will redefine how healthcare systems, researchers, and the pharmaceutical industry approach biology and medicine.
Do you believe Illumina will be at the forefront of this change?
Absolutely. Illumina’s sequencing platform, which has been refined over two decades, is uniquely positioned to drive this transformation. Initially optimized for genomic insights, it has now evolved to support multiomics. For example, RNA sequencing is well-established, and we are advancing cost-effective methods to analyze the epigenome. The epigenome reveals molecular interactions that regulate DNA activity, influenced by environmental factors and aging, without altering the DNA sequence itself. Additionally, we are pioneering new technologies to explore proteomics, providing another critical layer of biological insight.
While Illumina cannot tackle this challenge alone, we will play a central role in building the ecosystem needed to realize the full potential of multiomics. Partnerships will be essential as we integrate other omics fields into a cohesive framework. The future of biology is increasingly complex, but Illumina’s platform and commitment to innovation will ensure we remain a driving force in this revolution.
What should excite our readers about Illumina in 2025?
In 2025, readers can look forward to Illumina continuing its relentless pursuit of innovation to help patients receive timely and accurate diagnoses. Whether it is providing clarity for families dealing with rare genetic disorders or enabling rapid and precise cancer diagnoses, our goal is to ensure patients receive the answers they need when they need them. This can mean the difference between prolonged uncertainty and swift, actionable insights that empower both patients and clinicians.
Our work is not just about advancing technology but about making meaningful impacts on people’s lives. From reducing the time it takes to identify treatments for cancer to offering clarity in the face of uncertainty for rare diseases, our mission is to improve outcomes and transform healthcare. Illumina’s journey is just beginning, and we are excited to continue driving innovation to shape the future of medicine.
