+ Why did you start Genius Diagnostics?
We've been studying mechanisms of chronic illness for several years, but everything about the scientific process is slow and outdated.
- it's hard to get funding for big, expensive projects
- it's hard to get access to patients and data
- scientists and physicians aren't accustomed to openly sharing everything
- patients are reaching out to us with observations and suggestions, and we have no way of following up
- it's hard to pitch a new idea in medicine without having any evidence
- patients are frustrated by the slow rate of progress, and so are we
So, we started Genius as a way to build a partnership between researchers and patients. We're also big believers in the "open source" mentality.
- we're setting up a nationwide minimal risk research study
- we plan to crowdsource the production of high value data, including genetics and metabolomics
- we're helping to get the costs down by negotiating bulk rates and academic discounts, and we pass the savings on to participants
- we use the data to create new hypotheses, and we use the preliminary data to recruit other scientists to join us
+ What about costs?
We are asking participants to sponsor the costs of individual tests, including whole exome DNA sequencing and metabolic/biochemical testing. For metabolomics, we have been able to negotiate academic pricing and bulk discounts, which works out to be less than half of the industry rate.
For DNA sequencing, there is a broad range of pricing based on how "deep" you sequence the genome. Sequencing works by reading the sequence of chemical letters in long strings of DNA- some strings come from your mother and some from your father. So, the sequencer needs to read the same region at least 30 times to be sure that both mom and dad's variations are represented. Obviously, reading the same spot 100 times (a depth of 100) gives better resolution, but it also costs more.
We are still shopping around to find the best quality for the most economical price. The best thing about knowing your DNA sequence is that it will be useful information for the rest of your life- especially as science starts to fill in the gaps in knowledge. So, sequencing is an investment that will give returns for decades, and it's worth doing a quality job up front.
+ Do I need a doctor's approval to participate?
No, but you are welcome to share the incidental findings with your physician. One of our goals in creating Genius was to develop a platform that helped bring genetic and metabolic testing services directly to the clinic. These tests cannot be used for diagnostic purposes yet, but the information can be used to recommend follow-up tests and other courses of action.
We are at a point in history where patients have direct access to genetic sequencing tools and a wealth of information (and misinformation) on the internet. We are building tools to help distill all of this information into a set of diagnostic algorithms, so that every clinician will know exactly how to help each patient.