• The Illumina NovaSeqTM X technology allows sequencing 20,000 whole genomes per year
• Health in Code, the leading genomic diagnosis company in Spain, has installed the very first equipment in Spain and one of the first at the European level
Madrid, June 08, 2023.
We are immersed in the era of genomics. Science-based companies in the genomic diagnostics field are aware of the importance of relying on increasingly comprehensive analyses of our genetic material by integrating all information and studying how it influences the development of diseases.
Health in Code has just taken a major step towards this by installing the first NovaSeq X Plus device in Spain: the most powerful sequencing platform by Illumina, the world’s leading DNA sequencing technology company. This equipment offers an unprecedented combination of high throughput and high accuracy, which will allow consolidating Health in Code’s leading position in the genomic diagnostics field and advancing its international expansion with new clinical applications in other multiomic areas.
The device has been installed in Health in Code’s laboratory in Valencia, one of the five offices of the company in Spain (together with A Coruña, Granada, Málaga, and Madrid), located in the BioHub complex in La Marina harbor. This is one of the first devices implemented at the European level, and this equipment has already been adopted by internationally recognised institutions such as the MIT’s Broad Institute and Harvard. With this acquisition and with the integration of the A Coruña and Valencia laboratories, Health in Code’s genomic sequencing center has the highest throughput at the national level and is one of the largest in Europe.
Sequencing one genome: from ten years to a few hours
The first sequenced human genome took more than a decade to complete, under what is known as the Human Genome Project, published in 2003. Thanks to NovaSeqTM X Plus, up to 20,000 genomes can be sequenced in one year, a throughput that is 2.5 times higher than the second most powerful sequencing platform.
Health in Code will start sequencing whole genomes in the following weeks thanks to this new technology, which allows generating data twice as fast as its predecessors. “The NovaSeqTM X Plus device is not just another sequencing platform. This is a groundbreaking equipment that will allow for a methodological approach to aspects that previously were impossible to perform at a large scale”, said Juan López Siles, PhD, Strategic Project Manager at Health in Code.
Moreover, this device has been designed following criteria aimed at improving the sustainability of the sequencing process, in line with Health in Code’s company culture. According to tests, it reduces environmental impact by 60% compared with the previous devices, and it allows for a 90% reduction in packaging and cardboard waste.
Human interpretation is key in the face of a huge amount of data
Whole-genome sequencing constitutes a major contribution to the diagnosis of complex pathologies such as certain rare diseases, where other approaches do not yield concluding results and therefore do not allow reaching a diagnosis. Health in Code, in line with its commitment to streamlining genetic diagnosis, will launch clinical genomic sequencing applied to pathologies with a highly complex diagnosis as a product for healthcare professionals and for patients.
By analyzing a person’s whole genetic material, we can detect alterations that would otherwise be overlooked. In the words of Dr. Pablo Gargallo Tatay, pediatrician and head of the Medical Genetics Area at Health in Code: “Our work is not limited to a small group of diseases or a small subset of phenotypes. We want to leave no rare disease patients undiagnosed. As a pediatrician, I cannot accept that a patient with an uncommon disease is left without a diagnosis.”
Diagnosis constitutes a great relief for patients, for their families and for their physicians: it allows them to know the potential prognosis of the disease and even seeking specific therapeutic alternatives.
And the larger the volume of data is, the higher expertise and qualifications are required from the scientific team in order to apply all this information to the clinical field and give accurate answers to the patients. Therefore, relying on a multidisciplinary team of scientists and clinicians who can interpret the data and be informed of the latest updates in clinical guidelines and in the literature about genetic diseases is a must, and companies such as Health in Code are strongly committed to this, with a team of in-house specialized clinicians and scientists composed of molecular biologists, cardiologists, neurologists, pediatricians, pharmacists, bioinformaticians, and specialized laboratory technicians, among others.
Health in Code’s commitment to research and innovation originates from the scientific and clinical environment in which the company was created over 20 years ago, and throughout the years, this commitment has positioned the company at the center of knowledge and excellence in genetic studies in cardiology, later expanding to other clinical areas in which the company has become a reference.
This philosophy has led Health in Code to expand its vision into the field of multiomics, becoming the first Spanish laboratory certified in the use of proteomics-based technology by Olink®, a Swedish company that is the leader in the study of protein biomarkers.
The hallmark of our company lies in our capacity to manage the huge volume of data extracted from massive sequencing of the patients’ DNA, using software and enriched databases containing both all our case history and data from the scientific literature to structure this information and transform it into knowledge. This allows optimizing the diagnosis of genetic diseases and contributing to the development of medicine in order to offer personalized therapies.
This new technology will not only allow diagnosing diseases more efficiently, but also democratizing genetics to be able to develop personalized, prevention-oriented medicine. This platform is interesting for risk scoring, which allows preventing diseases before they appear. The NovaSeqTM X Plus platform enables scalability and allows these tests to reach all types of patients.
Genome sequencing is the gateway to a wide range of existing possibilities. According to Dr. Gargallo Tatay, specific technologies are required to address each disease: “There is often uncertainty about the clinical significance of specific genetic changes. In these cases, we need to develop experiments to confirm whether a genetic change has any actual pathogenic effect. For this purpose, we need technologies that may be based on RNA or on proteomics (the study of proteins), as well as applying pharmacogenetics more efficiently. At Health in Code, we are proposing new approaches for the in-house development of experiments and validations in order to be able to diagnose an increasing number of patients and leaving fewer and fewer diseases undiagnosed”.