In the ever-evolving field of genomics, advancements are poised to revolutionize numerous industries. As we look to the future, the potential applications of genomic technology are vast and varied. To explore this exciting frontier, we convened a roundtable of experts from Revvity, a life sciences and diagnostics business to discuss. Their insights offer insights into which industries and applications advancements in genomics will have the biggest impact, highlighting the profound implications and groundbreaking possibilities of this rapidly advancing science.
Precision Medicine
Madhuri Hegde, Senior Vice President and Chief Scientific Officer at Revvity
We’ll be seeing a shift from solely researching genomics to omics-based technologies. This will not only address the diagnostic needs of physicians but also help labs that are actively involved in monitoring and demonstrating the efficacy or the advantages of precision medicine.
Even today, we can diagnose only around 30-50% of the cases that come to us. However, as the benefits of personalized therapeutics have become more prominent, we are transitioning from short-read to long-read sequencing. Although pricier, the long-term advantages of genome data cannot be neglected since it can be permanently stored and revisited at any stage of the individual’s life. Fortunately, we expect the cost for more extensive genome sequencing to lower with wider implementation and higher testing volumes.
Thanks to genome sequencing, with sufficient knowledge, we will be able to focus on the therapeutic answers for these diagnoses through data interpretation, variant interpretation, and amelioration of clinical symptoms. In addition to that, questions including how protein-protein interactions happen, whether some therapies are interchangeable, and whether old drugs can be repositioned and repurposed, are also evolving rapidly. These will be the applications where genomics is going to have the biggest impact in the years to come.
Cell and Gene Therapy
Michelle Fraser, Head of Cell and Gene Therapy, Revvity
Genomics is central to personalized medicine. By understanding the genetic cause of disease, it is possible to tailor the optimal therapy for each patient and in some cases, predict the likelihood of adverse reactions to the treatment.
Specifically in the context of cell and gene therapy, genomics-based disease diagnosis provides the necessary insights to assess the feasibility of gene correction. Genomics will identify whether the condition is caused by a single point mutation, a genetic rearrangement such as a deletion or duplication, or a complex combination of genetic causes.
In the case of cell and gene therapies, this detailed diagnosis then leads to decisions on which gene correction platform is best suited to address the condition – CRISPR Cas9, base editing, prime editing, RNA editing or epigenetic editing, and the most appropriate way to deliver the therapy – as an autologous or allogeneic ex vivo gene therapy where cells are edited outside of the patient, or as an in vivo gene therapy delivered by viral or non-viral vectors directly to the target cells.
The complexity of the genetic condition, the tissues and types of cells affected, their ease of access, and the likelihood of immunogenic response are all key considerations.
Spatial Biology
Miguel Tam, Director of Strategic Marketing at BioLegend, a part of Revvity
One of the applications that will benefit the most from genomics in the next five years is the emerging field of Spatial Biology. The term Spatial Biology is used to describe the study of cells in the context of the surrounding tissue, how they are located respective to each other, how they position to build the tissue and the study of their functionality and interaction with their microenvironment. Under the umbrella of Spatial Biology, researchers have developed methods to quantify and characterize different molecules, including spatial transcriptomics, spatial proteomics, and spatial genomics, with some technologies capable of integrating multiple modalities.
There are several methods to detect these molecules, one of them being next-generation sequencing. As technologies evolve and improve, this multiomics approach becomes even more accessible and accurate. In addition, with improved resolution down to single cells and even single molecules, the genomic component will play a central role and the next five years will bring important discoveries in translational medicine and other very relevant areas of research and diagnostics.
Non-coding RNAs
Pedro Echave, Senior Manager, Global Business Segment at Revvity
Over the next five years the decreasing cost of sequencing combined with gene editing and modulation technologies, like CRISPR, will advance our understanding of non-protein-coding RNAs, which have regulatory functions in the cell. RNA-sequencing is a well-known set of tools for assessing gene expression in any sample type including bulk tissues, body fluids, and cell samples. Multiple applications for RNA profiling have been developed, including the determination of gene expression at single-cell resolution and spatial transcriptomics. Additionally, a variety of non-coding RNAs such as microRNA and long non-coding RNA are also now routinely studied. However, most of these techniques focus on protein-coding RNAs.
Understanding how non-coding RNAs regulate disease can lead to the implementation of non-invasive, NGS-based tests to monitor or diagnose several diseases. Recently, profiling RNA in plasma (mRNA and microRNA) can detect early changes associated with breast cancer, melanoma, and cardiac arrhythmias. Additionally, a salivary microRNA signature has been recently shown to diagnose endometriosis in women with high accuracy. With thousands of published peer-reviewed articles showing correlation between RNA profiles and disease, and several clinical trials ongoing, we expect an increase in the number of RNA signatures that can be used in clinical practice. Analyzing samples such as blood, urine or saliva will make disease detection and monitoring accessible, repeatable, and more patient-friendly.
Conclusion
The impact of genomics over the next five years is poised to be profound and transformative across various industries. Precision medicine is expected to benefit from advancements in omics-based technologies, leading to more accurate diagnostics and effective treatments tailored to individual patients. The field of cell and gene therapy will leverage genomics to optimize therapeutic strategies, enhancing the precision and efficacy of treatments for genetic disorders.
In the burgeoning area of spatial biology, the integration of genomic data will provide deeper insights into cellular interactions and tissue dynamics, driving significant advancements in translational medicine. Additionally, the study of non-coding RNAs, facilitated by decreasing sequencing costs and advanced gene editing technologies, will open new avenues for understanding and diagnosing diseases through non-invasive, next-generation sequencing-based tests.
Together, these developments underscore the far-reaching potential of genomics to revolutionize healthcare, diagnostics, and therapeutic interventions, paving the way for innovative solutions and improved outcomes in the coming years.