Genome Interpretation with Knome
Table of contents
In an article last month, we highlighted a promising alternative energy company, Joule, that has created a genetically altered organism that uses sunlight to convert carbon dioxide and water directly into ethanol or hydrocarbon fuels. One of Joule’s technical advisers is Dr. George Church, Professor of Genetics at Harvard and widely considered to be a pioneer in synthetic biology. Another promising company co-founded by Dr. George Church is Knome.
About Knome
Founded in 2007, Cambridge based Knome started out as privately funded by undisclosed investors. According to Crunchbase, Knome has taken 3 venture rounds since then totaling $15.8 million, again from undisclosed investors. Knome’s initial value proposition was an offer to sequence your entire genome for $350 thousand. In 2008, Knome sequenced the genome of the third named person to be sequenced. In September of 2012, the company stated they were spending over $50 million in R&D over the next several years to make a lasting contribution to molecular-based precision medicine.
Technology
Since Knome first offered their genome sequencing service to an elite few who could afford the hefty price tag of $350,000, the time and cost needed to sequence a genome have fallen dramatically. Next-generation sequencers can now decode a genome in about a day and at a cost of around $1,000. Knome’s value proposition today has changed and does not relate to the actual sequencing but rather the interpretation of the results. The Company’s core strength is providing whole genome downstream interpretation services that accept sequencing data from the major commercially available sequencing platforms (Illumina, Complete Genomics, and Life Technologies). Starting at $125,000, the knoSYS™100 is based on Knome’s big data informatics technology and is both a hardware and software solution. While before it may take a team of researchers weeks to months to annotate, compare, and interpret genome data, this “lab in a box” can do the same job in a single day.
Interpretation Challenges
When interpreting the genome, genetic predisposition to rare genetic diseases are more easily identified and require less computing power and data to identify. More common diseases, however, require a great more data and computing power to identify. The below complexity/novelty scale shows this dynamic:
Current gene tests as seen above are very simple and only occupy a small space of all possible genetic predispositions that could be identified. Essentially, they are simple look-ups for known variants in known genes. Knome hopes to move outside this small box and use technology to address areas that current tests cannot discover due to the amount of data analysis required. As stated by George Church:
The advent of fast and affordable whole genome interpretation will fundamentally change the genetic testing landscape. The genetic testing lab of the future is a software platform where gene tests are apps.
Conclusion
Knome believes that each one of the 2,000 next-generation genome sequencers in labs around the world should have a knoSYS 100 right next to it. With an experienced management team behind the wheel and a strong commitment to R&D over the next several years, there are many reasons to believe they may achieve just that.
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