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Q&A: Matt Posard on Illumina's Clinically Focused Business Unit

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Name: Matt Posard
Title: Senior Vice President and General Manager, Translational and Consumer Genomics, Illumina
Experience: Vice President of Global Sales, Illumina, 2007-2012;
Vice President of Worldwide Marketing, Illumina, 2006-2007;
Regional Sales Director, Biosite, 2003-2006
Education: University of California, San Diego, BA in Quantitative Economics and Decision Making

In January, Illumina launched its Translational and Consumer Genomics unit, which will focus on services, the consumer market, CLIA certification and regulation, and business-to-business, with a particular focus on the clinical sequencing market (CSN 1/11/2012).

Illumina has said that clinical and commercial customers are increasingly making up a larger portion of its customer base, and that sequencing will become a core technology in molecular diagnostics (CSN 2/8/2012).

Recently, Clinical Sequencing News visited Illumina's headquarters in San Diego and spoke with Matt Posard, who is heading up the new unit, on its focus and goals, as well as the direction he think the clinical sequencing market is headed, and the remaining challenges for implementing sequencing in the clinic.

What is the goal of the Translational and Consumer Genomics business unit?

The mission really is to enable genomics-based healthcare. The way we intend to do that is not just look at what we sell as an instrument and a set of consumables, but [also] the report that a physician is going to look at. So our primary customer, if you will, is going to be clinical geneticists as well as pathologists because it's those groups that will ultimately sign off on the report.

The product is essentially that report, and we view our responsibility as making sure we provide the complete solution, so that the clinical geneticist and pathologist can sign off on that report confidently and in as short a period of time as possible.

How are you developing the report?

There really will be three different categories of what will be ordered by clinicians. We think there will be fixed panels, we think there will be exomes, and we think there will be genomes. I think market adoption will essentially be in that order. There will be groups that will be interested in each of those three categories, but what we're hearing from the medical pathologists is that the largest demand — at least for the next year or two — is going to be in fixed panels. So, Illumina will be developing those panels in collaboration with clinical and academic centers. You'll be hearing more about that in months to come.

Through those panels we also intend to partner with teams that have already incorporated clinical reporting infrastructures for genomics. So, rather than have a black box reporting tool, we're going to adapt to the tools that are already out there.

The [TruSeq Amplicon – Cancer Panel] that we just [launched] is a research [use] only product. … But generally speaking, to perform these panels as [laboratory-developed tests], customers have to custom-design the content. We don't plan on selling a fully-kitted product for translational use. That's really intended for research use.

What will the clinical products look like then?

Generally, the clinical products are going to be narrower in content than the research products. And the reason is that each institution has its own criteria on what they're going to report clinically. You have some institutions that are only going to report what's in the guidelines — the 23 genes in cystic fibrosis, for example. You'll have others that will only report what's reimbursed. You'll have others that will be a little bit more liberal in the content they provide their physicians, but it has to be confirmed pathogenic genes.

Then, at the other end of the spectrum you have these academic centers that will go all the way to the point where there's some publication-based association with the disease, in which case they'll say [the variant is] likely pathogenic. Each institution obviously has its own criteria and physician base that will help determine that. Our approach is to offer the genes of interest for each individual consumer.

So, each institution or customer would essentially design its own targeted gene panel?

Right, but there is a lot of support that's necessary that we think differentiates this business unit from other options on the market as well as from the research user. We will do all the optimization work for customers for these various panels up front. We'll do all the design work to optimize A to Z. And then customers can order whichever of the letters from A to Z for their specific panel.

Do you anticipate that these customers would be doing the sequencing in house, and then you'd be providing the interpretation? Or would you also be doing the sequencing?

We see the market as being bifurcated into two groups. In the first group are the people who want to bring the technology in house and do their own testing.

The second area of the market [will be users] who, for various reasons, just want to outsource their samples. They'll either outsource them to reference labs, [to] which we are marketing to offer our products, or they're going to send them to Illumina. And our primary offering that we intend to continue to evolve out of CLIA is whole-genome sequencing. For whole genome what we'll be offering is today's rigorous QC that allows us to run it under CLIA and report the results, but we'll evolve it to include technical as well as clinical annotation services, so full interpretation of what those genome results are.

Where we see this evolving over the next several months is [to] something that takes the onus off the end user to interpret that genome. We'll do the bulk of that interpretation for the end user.

How are you developing the clinical interpretation pipeline? Is this something you're doing in house or are you collaborating with outside groups?

This requires an external evolution, which is happening very quickly, on biological annotation and clinical annotation. So all the public databases of the world essentially have individuals that can populate various variants that they find and show biological and clinical correlation to various diseases and responses to therapies. Then, from an in-house point of view, we have to automate that. We have to keep it updated and pull that information on a timely basis and scale it.

That's something we're taking on at Illumina — developing it internally and taking on solutions from other companies that have developed these systems. [We want something] that makes sense for us so that we can scale when the market gets to the size we expect it to be pretty shortly, which is definitely going to be thousands and thousands of clinical genomes.

How do you see the market for clinical sequencing growing?

Everybody has their own crystal ball, but … while the number of years that they're looking out may vary — some people would say maybe a few years, others would say five years — everybody expects genomic-influenced healthcare to be based on whole genomes. And we know some very large institutions and some very large entities that are already formulating plans to sequence babies at birth. We're also talking to oncologists and cancer centers that are putting plans in place to ensure that every cancer patient is sequenced during the course of their therapy.

I believe that clinical sequencing for all cancer patients will be seen as standard of care. I think for my children and their generation, particularly, for them and for their kids, clinical sequencing and whole-genome [sequencing] are going to become standard of care.

How have the physicians and pathologists that you've worked with responded? Are they receptive of the technology?

It's really dangerous to generalize, but I would say like all large groups, you have early adopters and you have late adopters. Based on feedback from those we interface with regularly as well as from the American Molecular Pathology group, next-generation sequencing is definitely grabbing the majority of mindshare among that group at levels they've never seen before. So, whether an early adopter or a late adopter, I think everybody's convinced it's coming and [is] extremely interested to see how it actually evolves. [Next-gen sequencing] has had incredible success in the research community, but how it actually makes that leap to the clinical community [is a concern].

So that's a long answer. The short answer is that everybody is prepared and excited about it coming, but wants to make sure that it's reimbursed, [and that] the quality standards are consistent with a clinical as opposed to a research laboratory.

[Another concern] is, frankly, what I would say is the rate of change. What's made next-gen sequencing so popular in the research community has been in large part its rate of change, but change in a clinical community, if not managed, is very intimidating and generally seen as a negative. So stability and manageability, if you will, of this amazing technology is going to be really critical.

How important are collaborations in bringing sequencing-based diagnostic assays to the market?

Clinical collaborators are very important. They are the subject matter experts. Illumina may be the technology and the instrument expert, but translating that technology into something that actually impacts patient care positively is only something you can find from a clinical collaborator.

The technology also tends to be received faster and have more credibility by customers if they know that the product was developed in collaboration with a medical institution that has a lot of respect.

Where are you in discussion with the US Food and Drug Administration on obtaining 510(k) clearance for the MiSeq, and how has your experience with clinical sequencing informed your discussions?

We've submitted a pre-[investigational device exemption] for the MiSeq and are working with the FDA toward getting that into a clinical trial and ultimately 510(k) cleared. Our diagnostic business unit is in routine discussions with the FDA to ensure that we get the proper labels for the various products that we've been talking about.

And I think that, to their credit, the FDA has been amazingly involved and supportive of next-gen sequencing. They obviously want to make sure that the supply companies get it right. And it's going to shatter some old paradigms and I think create some new standards by which these technologies are evaluated.

For the MiSeq to get 510(k) cleared it will be done with a specific assay. We haven't publicly announced that yet, but there will be a specific assay that goes with that and then all the following assays on top of that, which will be panels.

What are the remaining major challenges to adopting next-gen in the clinic?

For any new diagnostic or technology to be accepted it really has to address the following: it must have compelling clinical utility; clinical and economic outcomes have to be established; and reimbursement has to be established and routine.

A lot of these technologies, including whole-genome sequencing, have been demonstrated to be reimbursed but it's early days yet to determine how long it will take to be standard of care for a reimbursed product or a reimbursed diagnostic nationwide or routinely.

Coupled with that, it has to be something that fits within a clinical laboratory. So whether someone wants to do the testing themselves or outsource it, there has to be ease in ordering that product or diagnostic, relative speed in getting results back, and interpretation that results in clinically relevant decisions. All of that has to be established in a protocol that is reproducible for other users as well as scalable.

Do you think that whole-genome sequencing will always be physician-mediated, or will it evolve to a point where a consumer can just go and get his or her genome sequenced?

I think it depends on … what we're calling the consumer. If it's someone that's struggling with an undiagnosed disease, it's always going to go through a physician, without question. If it's somebody that's healthy but just being proactive about understanding genomics or their own DNA, which I would say is more a curiosity angle and more educationally driven, then there are certainly products on the market today on the genotyping side that allow those people to explore.

And for somebody to do that on their own genome, while they couldn't get a CLIA-based genome without going through a physician, I think in the future there will be opportunities for people to explore their own DNA and their entire genome without it having clinical consequences for that patient today because they're healthy.

The risk or the responsibility that's on Illumina and the other providers is [that], when somebody is exploring their own genome, they will find markers that have risk predisposition for different diseases. Making sure those results are provided responsibly and, in some cases, with professional counseling or support to help that individual through that information is the responsibility of the provider of those products.

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