By Eduardo Longoria
Since the turn of the 21st century the price of sequencing a single human genome has dropped from the 2.7 billion dollars spent on the human genome project to the mere hundreds of dollars spent on personal sequencing now. 1
With this drop in price has come a drop in the barrier to entry for those wanting to be involved in bioinformatics. This price drop owes its existence to reference genomes and changes in the quality of hardware.
Reference genomes are used for comparison with the genome of the subject being sequenced. As sequencing becomes more common there are more genomes available for comparison and so it is easier to identify genes that are unusual in the person being sequenced. Because there are fewer genes that have not been identified and greater statistical reliability for the genes that are there are fewer instances where sequence finishers are needed.
Currently, most commercially available finished genomes are actually 95% of the subject’s genome with 99.9% accuracy. The remaining 5% still requires sequence finishing, is incredibly expensive due to the need for qualified labor and is rarely available in common commercial sequencing.2 (NIH)
To complement advancements in data there are now better machines than when the human genome project was done.
The drop in price and resulting accessibility of sequencing has also lead to desktop and pocket sequencers becoming practical. Not everyone who wants to sequence DNA is a large company or top tier university. Some examples of these smaller and more affordable sequencing options.
| Sequencer Name | Company | Max Data Output | Price | Source |
| GenapSys | GenapSys | 2Gb | $10,000 | 3 |
| Personal Genome Machine (PGM) | Thermo Fisher Scientific | 10Gb | $50,000 | 4 |
| Iseq | Illumina | 1.2Gb | $20,000 | 5 |
| MinIon Mk1b | Nanopore | 42Gb | $1000 | 6 |
With a price of 1000 USD the pocket sequencer offers the opportunity for a sufficiently educated person with a powerful computer to start a sequencing service for an amount smaller than the cost of student loans for their education. 6,7
Market Changes:
With the price drop of the past few years, one can now get one’s genome sequenced for $99 as a one-time payment.8 While this is a welcome change for customers; companies need to find ways to adapt their business model to be able to support their overhead costs. A relatively recent way of going about this is the subscription as a companion to the sequencing service.
George Church’s firm, Nebula, offers a subscription as part of their 3 different sequencing packages. This subscription comes with health information sent to subscription holders about research going on regarding their particular genetic abnormalities. Along with this comes concerns with privacy that the company addresses with a conditional release form that allows the individual to approve or disapprove the use of their genome in various studies. 8
Boutique Biotech:
The subscription model allows for the cost of sequencing to continue to decrease by creating another stream of revenue for genomics companies. This also opens the opportunity for research to even more easily gather reference genomes to assist in future scientific discovery. As the price of sequencing drops, many genomics companies will make the majority of their money from research and combing through academic articles and news regarding treatments. This aggregation would likely pair well with doctor’s offices that specialize in a particular genetic condition and assist by ensuring medical professionals are well informed when treating their patients.
These genomic companies that pair with specialized medical practices can afford to be a more boutique form of biotech with a clear focus and a strong relationship with their customers. These small companies can assist medical practices in providing tailored treatment and operate with the overhead costs of a small business due the now more affordable sequencers and powerful computers. Now a patient can easily know what their risk factors are for their conditions and learn how best to deal with them. These boutique biotech firms can better inform medical practices and help tailor heath care to the patient.
By Eduardo Longoria
References
1. Human Genome Project FAQ
2. DNA Sequencing Costs: Data (genome.gov)
3. GenapSys™ Sequencer – Genapsys
4. Ion PGM System Reference Guide (Pub. no. MAN0009783 Rev A.0) (thermofisher.com)
5. iSeq 100 System | Our most affordable benchtop sequencer (illumina.com)
6. MinION | Oxford Nanopore Technologies
7. Fast Facts: Tuition costs of colleges and universities (76) (ed.gov)
8. Whole Genome Sequencing DNA Test | Nebula Genomics
Deixe uma resposta