Allison Ballmer, Director of International Business for Genia Technologies, a member of the Roche Family, joined Pat Salber (@docweighsin) at the 2015 Personalized Medicine World Conference in Mountain View, California. Here is a link to the video: https://www.youtube.com/watch?v=oovAV37aoaA
Genia’s mission is to make genetic information universally available. They have created a platform that makes gene sequencing simpler, faster, more accurate, and lower cost. Instead of using optical detection that requires complex sample preparation, they use nanopore technology that allows single-molecule semiconductor-based DNA sequencing (if you are interested in a more in-depth explanation of how this works, you can find it HERE). Because Genia’s technology is electrical, utilizing “the same inexpensive semiconductors that are present in consumer electronic devices such as cell phones, computers, and handheld devices,” it is smaller and less expensive than sequencers utilizing optical detection.
Democratizing DNA sequencing
Allison says the smaller, more affordable sequencers will allow DNA sequencing to be decentralized. This will democratize sequencing and make it affordable for patients everywhere. She goes on to say,
“…the promise of personalized medicine is that you can really understand your genome in a personal way and your clinician will be able to provide actionable information to you. What we see is an evolution of DNA sequencing has primarily lived in research. It has provided a huge amount of information to translational researchers that is now moving into the clinic in oncology, in prenatal testing, and in some other key applications…What we hope with Genia is that our platform, that is really well suited for decentralization, will be able to take a much lower cost version, in a tabletop way, and be able to decentralize it to your local hospital.”
The clinical applications of DNA sequencing are already being developed. For example, cell-free DNA is being looked at for prenatal testing. The hope is that we will be able to look at blood from the mother and find fetal cell-free DNA that will provide information that currently requires more invasive techniques, such as amniotic fluid sampling. When the same idea is applied to oncology, the idea is to screen a cancer patient’s blood for cell-free DNA of the cancer. According to Allison, this may one day become a substitute for biopsy to monitor therapeutic response and the changes in biology of a cancer over the life of a therapy. She said, a big focus for Genia, and for the whole industry, is “how can we use DNA and the information that NextGen sequencing provides in clinical samples, such as cell-free DNA that we can get from blood.”
When I asked how close the Genia technology is to being ready to be deployed to labs and clinics, Allison hedged, saying that the technology is in development, but now, as a part of the Roche family, they are being well resourced and provided with a lot of medical influence, “so we hope to be in the clinic somewhere between 2 and 10 years.” Genia was acquired by Roche in June 2014 and is being integrated into their existing Roche Sequencing Unit.
Let’s hope it is closer to 2 than 10.