Genome Sequencing: Past, Present and Future

The world of medical technology is full of surprises and gene sequencing is one of them. While its use in the identification of BRCA1 mutations is already a gold standard in cancer research, we could see whole genome sequencing (WGS) turning into a common practice faster than one could have originally expected. The competition between various organizations like Illumina, Roche, Life Technologies and Pacific Biosciences and their rush towards next-generation sequencing (NGS) has helped the technology improve quickly over the past few years. Here’s a look at the timeline of NGS market:


The International Human Genome Sequencing Consortium kicked-off the genome analysis race back in 2003 by sequencing a complete human genome after years of worldwide collaboration and billions of investments.The WGS price currently is around $1000 and is expected to cost less than $100 one day. If you look at the current products available, Illumina’s NovaSeq 5000 costs around €800,000 and a NovaSeq 6000 reaches almost €1M.

Data storage is a critical challenge for WGS. It requires require powerful computing facilities, efficient algorithms and obviously experienced staff for processes like quality checks, preprocessing of sequenced reads and mapping to a reference genome. As per the Broad Institute in Cambridge, it took 200 terabytes of raw data for the decoding the equivalent of one human genome every 32 minutes that it conducted in October last year. Organizations like Google and Amazon offer to keep a copy of any genome for €24 ($25) a year, which translates to roughly €0.02/GB per month.

Globally, there are a lot of initiatives taking place towards WGS. The UK was the first to launch a dedicated program called Genomics England to whole genome sequencing in Europe.Australia is currently working on the €290M 4-year 100,000 Genomes Project (100KGP), sequencing patients with rare diseases and cancer to create a massive database for R&D.France announced the “France Medicine Genomique 2025” program in 2015. It aims to open 12 sequencing centres and ensure 235,000 WGS a year. China has been an unbeatable leader in this area for a long time now. With every nation working towards WGS in their own capacity, it’s prospects look diverse and bright.

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