Since its discovery in 2015, Cas12 had originally been used as a genome-editing tool, and its diagnostic ability went unnoticed for several years.
To convince ourselves and others that CRISPR diagnostics was more than just about chemical concepts, we had to first program Cas12 to detect the presence of human papillomavirus, or HPV, a common viral infection that can also cause cancer.
Getting tested every three years can also significantly reduce the risk of developing cervical cancer, but cervical cancer currently requires a Pap smear that takes place in a doctor’s office.
We imagined how a more accessible HPV test could reduce the barriers to screening. In order to move closer to that goal, we had to show that CRISPR worked in the real world.
The first test was to design Cas12 to detect specific cancer-causing HPV types in patient samples. We received blinded samples so that our results cannot be influenced.
And after comparing our results to a conventional HPV test, we were so excited to see that our CRISPR-based HPV diagnostic had almost perfect accuracy. The whole process, from start to finish, took less than an hour and only cost us pennies for a single reaction.
Since our initial discovery, we have found that Cas12 can search through fluids, such as saliva, blood or even urine, for a specific DNA match. Like a biological search engine that reads DNA quickly and accurately, CRISPR is gaining a new voice in diagnostics.
We can simply type in a query by altering the letters in the guide RNA, and the CRISPR search engine will generate a real-time report of any targets that are found.
We are only beginning to understand its potential, but are the first to take the groundbreaking steps in order to harness the power of CRISPR for DNA and RNA detection.
So, what are the possibilities of this technology?
Here are two more examples where CRISPR diagnostics can make an impact.
In 2014, West Africa experienced one of the largest and most complex Ebola outbreaks, with over 11,000 deaths in just two years. As a healthcare worker in Liberia, you are intimately aware of the precautions that need to be taken for Ebola.
One day, a patient arrives into your clinic with a fever and headache and sore throat, and everyone is instructed to wear protective equipment.
And everyone’s wondering, “Is the patient suffering from malaria? Or could it be typhoid fever? Or is it actually Ebola?”
You collect blood samples and send them to one of three laboratories in the entire country, and you won’t hear back from them for several days. The disease status remains unknown, as the patient gets sicker.
What if, instead, we could program Cas12 to directly detect these pathogens from a blood sample, so that a healthcare worker in Liberia could diagnose a sick patient immediately?
We envision a future in which a point-of-care CRISPR diagnostic can help us rapidly identify and control emerging outbreaks.
Now, here’s one more example. Every time a cell in your body divides, about ten letters in over 3 billion letters of your genome get copied incorrectly. That means your body acquires billions of new mutations every day.
Most of the time, these mutations seem inconsequential because they fall into benign regions of your genome or are repaired by the cell.
But sometimes, these mutations can fall into cancer genes, causing cells to become cancerous. Almost every single one of us knows someone who is affected by cancer.
Fortunately, if a person detects their cancer early, they have a high chance of being cured. Our team dreams of a future in which CRISPR can be programmed to help us detect and reverse early signs of cancer.
We are only at the beginning of the CRISPR diagnostics revolution. Today, we are developing the technology and the infrastructure of the platform that will bring CRISPR into hospitals, clinics and homes around the globe.
We believe that individuals should have better diagnostics and better access to diagnostics, to the power and accuracy of CRISPR. When these barriers get broken down, CRISPR has the potential to connect into our data-driven world.
Imagine the possibilities if real-time diagnostics could be integrated into an accessible device, such as your phone. This could help us better understand the prevalence and geographic distribution of disease mutations.
It could help us better identify new outbreaks, and it may even help us better develop new algorithms for predicting future epidemics.
But there are several important ethical questions that we need to address along the way, such as data ownership and diagnostic counseling.
For example, how do we ensure that an individual’s genetic information does not fall into the hands of abusers? And should we even be able to self-diagnose dangerous or infectious diseases, such as HIV, without physician oversight?
We need to make the right decisions early on, because once we know what CRISPR is able to do, we can’t go back.
We are excited about being at the forefront of this new technology that will enable faster, cheaper and more accurate diagnostics.
Our mission is to create the platform that will enable and empower individuals to make informed choices about the health of themselves and their families.
Only then will we be able to deliver on the power of CRISPR. And what a world that would be: a world in which we not only have the ability to rewrite our genes, but where we can use CRISPR in our everyday lives to read the letters that make you and me.