The Festival of Genomics and Biodata 2022 took place 25th to 28th January with a stellar line up of expert researchers and clinicians sharing their research and knowledge. From the use of bioinformatics in a genetic approach to drug discovery, or in the development of a prediction platform for response to cancer treatment, to how the combination of short read and long read NGS technology is advancing the application of NGS in the clinic, there was a talk for everyone to engage with. Novogene were delighted to participate as a sponsor and to present on mRNA sequencing and the emergence of multi-omics.
The scene was set right from the beginning with three plenary sessions that provided an overview of the interface between the genomics industry and the Festival’s three pillar industries – healthcare, pharmaceuticals, and research – and how that relationship has developed in recent years. Dame Sue Hill, the Chief Scientific Officer of NHS England started off with an update on the latest developments in integrating genomic sequencing with healthcare. In 2020, the NHS Genome Medicine Service launched the first whole genome sequencing service within a healthcare system with a goal of improving population health and patient outcomes through the use of multidisciplinary teams. Genome UK set out three pillars by which genomic healthcare progress would continue to be achieved – diagnosis and personalised medicine, prevention, and research. The overall goal of this plan is to provide faster diagnosis of cancer and rare diseases by expanding access to molecular diagnostics and genetic testing.
From the point of view of the pharmaceutical industry, human genetics increases the probability of drug development success 2-fold. When causal genes are known, this increase is more than 2-fold. This was presented to us by Joanna McCammond McGill Howson, the Senior Director of Genetics of the Novo Nordisk Foundation. Seven Bridges is a Novo Nordisk-funded platform which is taking a holistic approach to bioinformatics, allowing for integration of data from academia, biotechnology, government, clinical diagnostics, and many other industries, for the development of drugs, identification of biomarkers and the optimisation of clinical trials by identifying underlying genetic factors involved in drug response.
Phenome-wide studies can highlight possible side-effects, allowing for cessation of the study if needed so as not to waste valuable resources, or to repurpose the drug if another potential target can be identified. At Seven Bridges, in silico and in vitro labs work together to confirm results of a wide range of studies. Human genetic data is needed to discover novel therapies and the results and on-going collaboration at Seven Bridges are testament to this.
Paul Workman is a Professor of Pharmacology and Therapeutics and former Chief Executive of the Institute of Cancer Research. He spoke about the research industry’s recent developments in expanding the druggable cancer genome for personalised medicine. Professor Workman was involved in the development of one of the first precision medicines, gefitinib, an EGFR tyrosine kinase inhibitor used to treat non-small cell lung cancer. A correlation was found between the response to this drug and the presence of a certain activating mutation in the EGFR gene. Most causative mutations of this cancer now have drugs specific to them, with patients being treated with the drug applicable to their genetic landscape.
He highlighted the need to expand the drugged genome, as currently many validated targets have no drugs, and pointed to the efficiency of chemical probes for the validation of targets. They offer a different type of functional inhibition, that is closer to what a fully developed drug would do and are much more specific than drug candidates. Drugs don’t need to be selective, they just need to be well tolerated and effective, so the selectivity offered by chemical probes allows for quicker progression towards target validation and drug discovery. Past studies have shown that if the molecular target is knocked out using CRISPR, the drug candidate still shows activity due to off-target toxicity by eliciting its effect via a different mechanism. Professor Workman’s group have recently developed multiple drugs using chemical probes which target only the intended mutation, with no activity if this target is removed. They currently have a prostate cancer drug in phase 3 clinical trials that is showing excellent results in patients with an AKT mutation and are working to develop leads they have for the treatment of chordoma, a cancer of the vestigial notochord driven by the brachyury transcription factor, into drugs.
Novogene’s contribution to the Festival was three-fold, with a sponsored talk by our client and collaborator Professor Dean Fennell, a “Lightning Talk” on the power of multi-omics), and a Learning Academy presentation on the basics of RNA sequencing, both delivered by Dr Shi-qi An (Novogene Product Manager).
During Dr An’s Learning Academy presentation, which was attended by 119 people, she talked attendees through how RNA-seq can be used for the qualitative and quantitative characterisation of gene expression, how it can facilitate the discovery of novel transcripts and how it can be used to identify alternatively spliced genes. Attendees left with an understanding of how to choose the correct RNA-seq strategy for their research goals and sample requirements for the sequencing of RNA.
The 10 minute “Lightning Talk” entitled, “Multi-omics Based Approaches: Trends and Applications” was again delivered by Dr. An and attended by 217 people. This presentation highlighted the power of integrating proteomics, transcriptomics, epigenomics and genomics to drive discovery across multiple levels of biology. Dr An explained how data at any of these individual levels, although powerful, cannot provide deep insight into the interactions that occur during complex and often multi-layered biological processes, but multi-omics can provide perspective on how this interaction can lead to complex phenotypes and provide opportunities to identify new targets for treatment. Dr An explained how Novogene is powering multi-omics research through our state-of-the-art laboratories that harness the newest sequencing platforms, high-throughput and high-performance computing platforms, and cutting-edge data handling processes, with a global team of highly qualified experts.
Professor Dean Fennell is a long-term client of Novogene who has worked with our bioinformatics consultants to develop MEDUSA, a platform for the prediction of patient response to therapy for mesothelioma, a cancer caused by exposure to asbestos. The genetic landscape of this cancer is extremely heterogenous across patients and is predominantly filled with tumour suppressor mutations. This presents a challenge in the design of treatment plans as these mutation types usually require synthetic lethal treatments and the heterogeneity of the disease makes it difficult to predict how patients will respond to a certain therapy. MEDUSA was developed by studying phylogenetic diversity and using transfer learning to group patients into 5 clusters of increasing heterogeneity and complexity. The story is holding true as studies continue with larger cohorts, and this is providing insight into mutation order and potential biomarkers that can be targeted for earlier intervention. Both PARP inhibitors and CDK4/6 inhibitors have shown promising results in recent trials. Cluster 5 tumours show an inflamed tumour microenvironment, so studies are underway to identify potential immunotherapies and to study the tumour mutation burden scores of tumours that respond to such treatments.
Overall, the Festival was a resounding success, compounded by the fact that it had to move from a three-day physical event to a four-day online event in a very short space of time. The speakers and organisers adapted as needed to deliver a seamless event and an excellent line up of fascinating talks. We at Novogene are already looking forward to the Festival of Genomics and Biodata 2023!
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