Tag Archives: population-scale sequencing

Global Projects Move Genomic Medicine to the Next Level

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NextCODE takes top marks in Genomics England analysis and interpretation “bake-off:” NextCODE’s proven population-scale platform delivered the best results in rare disease and cancer clinical interpretation, as well as secondary analysis and variant refinement.

New genomics-based technologies and tools are making their way into a range of exciting research programs and clinical studies around the world. Leading-edge organizations are quickly adopting hardware for sequencing and systems for collecting genomic data. Now, the focus has turned to analysis and interpretation – the critical component necessary to gain the insights from the sequence data that will transform medicine.

Earlier this year, Genomics England announced investments for broad sequencing and analysis of 100,000 human genomes. At the time, Genomics England had selected Illumina as its sequencing partner and was coordinating resources and centers to support the effort, including resourcing for analysis and interpretation. [See blog post here]. Other initiatives, such as the Qatar genomics program and the initiatives by Longevity and Regeneron also represent the accelerated progress in seeking medical advancements from genomic data insights. [See blog post here.]

This week, Genomics England announced a select group of companies with advanced capabilities to move to the next stage of evaluation to provide clinical interpretation for the 100K Genomes Project. At the tip top was NextCODE, which received top marks by Genomics England for its analytical capabilities across all the categories evaluated: rare disease interpretation, secondary pipeline analysis and cancer interpretation. [See press release here.] The company’s advanced Genomically-Ordered Relational database, or GOR, combined with its clinical and discovery interfaces offer the most advanced and reliable capabilities to support the ambitious tasks undertaken by Genomics England, and are already proven at population scale. [Read more on the GOR database here.]

The coming months will be a very exciting time for genomic medicine, with interpretation taking the spotlight as we take leaps toward the next stage of personalized medicine.

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Population-Scale Research Efforts Enabled by Progress in Sequencing

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Significant insights gained from population-scale genomic studies, based on the knowledge of genetic variation and disease causation, will help to enable a new reality of personalized medicine and treatment.

The ability to sequence whole genomes quickly and economically is driving interest in population-scale sequencing efforts that can reveal meaningful insights on a much more systematic basis than previous approaches. A range of large initiatives announced recently are prime examples of the trend in population sequencing, including industry programs by Regeneron and Human Longevity, and the 100,000 Genomes Project by Genomics England. Perhaps better than any other effort since the founding of deCODE in Iceland, the establishment of a high-throughput Genomics Center at Sidra Medical and Research Center in Qatar embodies the movement toward these types of population studies. The eventual goal of the project is to sequence the entire Qatari population of some 300,000 people. But from the beginning, the Sidra facility will help advance genetic mapping projects, including the creation of Arab consensus genome to obtain a better understanding of genetic variants that influence health across Arab populations and, indeed, beyond. In addition to these efforts, the center will focus on uncovering the causes of rare genetic diseases. The significant insights that can be gained from population-scale studies, based on the knowledge of genetic variation and disease causation, will help to enable a new reality of personalized medicine and treatment. And this is where efficient, powerful and industrial-scale analysis will become critical. NextCODE’s analytics and interpretation systems have already been tested at such scale, as they are based on the world’s first and largest population genomics effort—that of deCODE. [see blog post] Our systems will be useful tools to efficiently deliver insights based on the vast amount of data that will be generated by these major population-based efforts to improve the state of global healthcare.