Danny Miller, M.D., Ph.D.: How do you counsel someone for this testing when the amount of time it takes to do the testing will be shorter than the time it is takes to do the counseling?
[Editor’s Note: BBI’s Danny Miller, M.D., Ph.D., is the Corresponding Author on the preprint paper, “Ultra-fast sample-to-sequencing workflow for clinical diagnostics using micropillars,” which explains a new and streamlined method for sequencing blood and tissue samples. Here, he explains the process and its potential implications for transforming this important procedure.]
What are the key findings of this paper?
As my colleagues and I state in the paper, we have demonstrated a "sample-to-sequence" workflow for processing DNA isolated from cell culture, whole blood, and solid tissue. It’s a “hands-off” approach, with minimal manual intervention. This method preserves DNA integrity, reduces potential for human contamination, and minimizes the equipment needed to rapidly make libraries for long read sequencing.
What is the significance of this?
It opens up potential new ways of how genetic testing is delivered. Imagine taking someone’s finger, poking it, extracting blood, and almost immediately starting to sequence that blood. If you take that a step further, you can imagine doing that for a brain tumor. We are showing that it is possible to turn sequencing into a routine procedure – like taking a patient’s temperature or blood pressure – without needing a fancy lab, lots of equipment, or even lots of experience.
It’s really the first paper I’ve ever written where I thought I was shaping the future of clinical services, and showing one possible way that we could deliver genetic testing in the future. It reminds me of that quote from Arthur C. Clarke’s 1962 book Profiles of the Future: An Inquiry into the Limits of the Possible: "Any sufficiently advanced technology is indistinguishable from magic."
You write in the paper that “… upstream sample preparation remains a significant bottleneck, especially in clinical workflows….” Please elaborate.
Today, in most instances, sequencing is neither quick nor simple. First, you need specialized the equipment to extract the DNA from blood, saliva, or tissue from a patient. You need scientists trained to conduct sequencing and equipment, such as centrifuges to extract the DNA and make the library. These are things that are available in a laboratory setting, but aren’t available on the front lines, in the ICU, etc. That’s what I mean by “significant bottleneck.”
Now, imagine a surgeon removing a brain tumor, being able to sequence that tumor’s tissue samples in the operating room, and knowing within a half an hour what type of tumor it is, or knowing how aggressive it might be – that can help guide surgical decision making in real-time. Moreover, imagine that surgeon is in a remote area without electricity 24/7, this is the kind of approach that can work in settings with limited resources, where you may have to stop and start sequencing as electricity is available. That’s possible and is a major promise of this new methodology.
What are the implications of this for the physician-patient relationship?
The implications are significant. It is incumbent on the medical profession that patients understand the ramifications of sequencing – and genetic diagnoses. How do you counsel someone for this testing when the amount of time it takes to do the testing will be shorter than the time it is takes to do the counseling? Imaging thousands of people being tested in one day, There are not enough people doing that counseling. How are we going to scale this?
Any other observations?
I worked on this project with several colleagues, including individuals from Inso Biosciences, a startup in Ithaca, New York. For full disclosure, I am an advisor to the company and hold stock options.
