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Q&A with Doug Rains, CSO of Quantigen Genomics

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Doug Rains is the Chief Scientific Officer and Lab Manager of Quantigen Genomic Services in Indianapolis, Indiana.

How did you get started running labs, and get started in pharmacogenomics?

In my previous career, I was a field application specialist for ThermoFisher, so I was present at the genesis of pharmacogenetics. I actually supported one of the earliest customers of pharmacogenetic testing: Children’s Hospital in Cincinnati. This was early on before it was a commercialized product. I was on the periphery of the development of PGx as a product, and ultimately that became part of what I supported heavily at the company. I had several customers who did PGx testing, and I did support for them. After I left Thermo, I spent two years building and validating pharmacogenetics labs in the clinical space, actual production level labs doing clinical testing.

How has pharmacogenomics and the industry evolved?

The technology has absolutely evolved. Early on we were testing using technologies that weren’t as advanced, didn’t have the same throughput. Where we could test maybe eight samples at a time in the early days, now we can test several times that in the same amount of time with the same amount of labor. That throughput is the big difference. That’s from a technological standpoint. What has really improved is our understanding of what the information means. In other words, our ability to apply pharmacogenetic testing results to a clinical situation in order to help a physician guide and direct therapy has really improved. The clinical research is much more robust now, which backs up the testing results that we get. And that’s forever improving.

What does the future look like?

The fate of pharmacogenetic testing is dependent upon the ability to do these large cohort studies, where we’re actually looking at thousands and thousands of patients over many many SNP markers. The goal there is to find more associations with current drugs, and of course with drugs that are coming onto the market. What are the SNPs that are important? What are the markers that are important? It’s going to be an expansion of the knowledge that we have now, but it’s also developing new information on drugs that are coming out.

What are some of your tips for creating a high quality, compliant lab?

Making sure that you do your due diligence on the front end. Making sure that your testing is accurate. Making sure you’re getting consistent results. Then, very specifically, it’s important to really do your due diligence on a particular gene, and that’s the CYP2D6, which is a gene that plays a role in the metabolism of 25% of all known prescription drugs. It’s critically important to get CYP2D6 genotyping right. The problem is that CYP2D6 is the most difficult gene to type correctly, because it tends to undergo rearrangements, and it can undergo duplication or deletion events. And when these genetic changes happen to CYP2D6, that can have a profound impact on the resulting protein. We’re not looking at proteins, we’re just looking at the gene. So we need to fully understand what kind of gene does this person has. We need to fully understand the genetic status of CYP2D6, and that requires a lot of effort and knowledge in these labs.

In parallel to the technology that you’re developing to understand this, I’m sure you’ve used companion technologies. What have you used? How do you feel like that set of software has kept pace with genetics as a technology and as a field?

Of course we use a LIMS for doing patient tracking and data tracking, which is obviously very important. But in the past the LIMS did have several pain points, in particular that the system wasn’t necessarily designed for our workflow. I think it’s important to have a LIMS that’s tailored to your workflow. Otherwise, you end up with things that are redundant, you end up not having certain capabilities that you really need, and all these things can slow you down.

How do you feel with the tools that are out there, what are the trends? What would you like to see?

From a LIMS system, I’ve used Apollo and Ovation. And having a LIMS provider that works with you to address your specific needs is the most important thing. So if there are little things about the workflow where you could gain some efficiency, and having a LIMS provider that will work with you to build that capability in, is really important.

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