In health care for genetically modified treatments, the lack of rapid, cost-effective genetic testing is one of the biggest hurdles to truly personalized medicine.
And few people are more familiar with the problems of today's genetic diagnostic tools than Kalim Mir, the 52-year-old founder of XGenomes, has spent his entire professional career researching the human genome.
" Ultimately, genomics will be the foundation of health care," says Mir. "We need to move towards sequencing populations." Population-scale gene sequencing is something that current techniques can not achieve.
"When it comes to sequencing the population scale with millions of people, we just do not have the throughput," says Mir.
That's why he launched XGenomes presentation as part of the latest series of Y Combinator companies next week.
As a visiting scientist in the Department of Genetics at Harvard Medical School, Mir worked with the famous Harvard Professor George Church on a new type of gene sequencing. A technology that promised to perform sequencing at higher speeds and far lower cost than everything that is available in the market.
The cost of sequencing a genome has dropped dramatically for $ 1
These days, gene sequencing can take a few days and cost about $ 1,000, says Mir. With XGenomes, however, I want to reduce the cost of testing even further.
"We have developed a way of sequencing directly on the DNA where we do not manipulate it, except to open the double helix, tell me.
Starting a startup that does gene sequencing on population scales is not the place that I thought was in Yorkshire in the north of England. "When I went to school, I was not interested in science or engineering. I was interested in literature, "he recalls.
That changed when he read Aldous Huxley's Brave New World and started thinking about the effects of the genetic manipulation that the book presented.
I studied Molecular Biology at Queen Mary College and after graduation he worked in a US biotech company.
After returning to England in the mid-1990s to work on his doctorate, he worked with geneticist Edwin Southern on basic research, which today forms the core of testing technologies such as 23andMe Illumina and Affymetrix.
Xgenomes technology works by unpacking strands of DNA and then sequencing strands simultaneously.
" I think of the genome as a book. The genome has chapters and the chapters might be the chromosomes, "says Mir. C Current technologies read it letter by letter. [But] w We recognize words. "
The company is able to achieve this through optical imaging technologies. The samples are treated with reagents, which are then excited by lasers. XGenome's technology then "reads" and identifies the highlighted DNA parts.
With this new technology, Mir believes that he can ultimately sequence a complete genome in one to two hours and for only $ 100.
That would be a fundamental change in the way tests are conducted, and could lead to a rapid throughput of sequencing, which tells me that it is necessary to make the vision of a truly personalized medicine a reality to let.