Genomics Is Taking Diagnostics to the Next Level

Personalized medicine has long been considered an opportunity to overcome the limitations of traditional medicine, with the industry and academia now able to make more precise decisions thanks to human genome sequencing. Genomics is making it possible to predict, diagnose and treat diseases more precisely than ever, so it is necessary to continue expanding this practice across the world, agreed industry experts.

“Drug development is costly and inefficient. There is a 90 percent overall failure rate from pre-clinical to Phase II/III trials. For example, there is a 99.6 percent failure rate for Alzheimer’s drug trials. The most common reason for failure is lack of efficacy and the most common reason for it is inadequate target validation,” said Michael Johnson, Professor of Neurology and Genomic Medicine, Imperial College London.

Genetics studies genes and their roles in inheritance to understand the way certain traits or conditions are passed down from one generation to the next. Genomics, a more recent term, describes the study of all of a person’s genes, including the interactions of those genes with each other and with the person’s environment, according to the National Human Genome Research Institute. Genomics has found applications in the study of complex diseases such as heart disease, asthma, diabetes and cancer, which are typically caused by the combination of genetic and environmental factors.

Several countries across the world are working on genomics projects, which offer new possibilities for therapies and treatments for some complex diseases as well as new diagnostic methods. For example, in Dec. 2012, former UK Prime Minister David Cameron announced the creation of “The 100,000 Genomes Project” to sequence the whole genomes of 100,000 individuals with rare inherited diseases and cancers. The project aimed to return new diagnoses to National Health Service (NHS) patients, build research infrastructure, capability and skills, generate inward investment and “to lead the world in the application of genomic medicine across national healthcare systems,” said Damian Smedley, Professor in Computational Genomics, Queen Mary University and Director of Genomic Interpretation, Genomics England. In May 2016, Genomics England opened a new Sequencing Center, which reached the goal of sequencing 100,000 genomes in Dec. 2018, added Smedley.

Genomics England collaborates with 3,580 researchers and 413 academic institutions worldwide, said Smedley. The UK-owned company is present in North America, including Mexico. Since July 2017, Genomics England has worked with the industry through its Discovery Forum, which provides a platform for collaboration and engagement between Genomics England, industry partners, academia, the NHS and the wider UK genomics landscape, according to the company.

Primarily funded by the UK Medical Research Council, Johnson’s research at the Imperial College London uses single-cell transcriptomics of the human brain, single-cell Mendelian randomization for causal inference and integrative multi-model genomics. From the 216 new drugs entering the German market between 2011 and 2017, 160 showed no quantifiable benefit over existing licensed therapies, said Johnson. The Mendelian randomization helps for better drug target validation, resulting in drugs with improved efficacy, he added.

Despite the complexity of genomics studies, there are efforts to decentralize them and make them accessible to more professionals worldwide. For example, Oxford Nanopore Diagnostics, a new subsidiary of Oxford Nanopore Technologies, was established to facilitate the development of a new generation of DNA/RNA sequencing technology for diagnostic applications through collaborations with clinical and industry partners.

Oxford Nanopore Technologies offers devices that “suit all throughput needs and work environments,” and has a large and rapidly growing customer base, with sequencers in over 100 countries and presence in key global institutes, said Katherine Melville, Diagnostic Testing Solutions Manager, Oxford Nanopore Technologies. “We intend to deliver products that make the benefits of genomics accessible to all. Our vision is to transform healthcare through real-time genomics,” she added.

Although the genomics studies continue moving forward, there is a shortage of talent supply. Professionals with good education in other sectors, physics, mathematics and computer sciences, could always contribute, said Ivana Poparic, Head of Life Sciences Cluster Development, MedCity. “Bringing people from other sectors into genomics to provide new talent can provide a solution to the shortage of talent supply in the field.”

Multidisciplinary teams enrichen the work and are important for Oxford Nanopore Technologies. “We have people hired from many different backgrounds, such as machine learning and material science,” said Melville.

In Mexico, genomic medicine research is led by the National Institute of Genomic Medicine (INMEGEN). Created in 2004 in response to a revolution in biological sciences and in experimental biology at the time, INMEGEN is the eleventh National Institute of Health. It was created as a result of the Promoter Consortium of the Institute of Genomic Medicine, integrated by UNAM, the Ministry of Health’s National Council of Science and Technology and the Mexican Foundation for Health. INMEGEN aims to incorporate much of the biomedical research and molecular oriented research into the Mexican healthcare sector.