Illumina Seeks to Reduce Burdens of Adopting Precision Medicine

Editor’s note: For up-to-the minute insights from the nation’s first movers and early adopters in the field of precision medicine, the Precision Medicine Institute Symposium 2019 is taking place Thursday and Friday, May 2-3, at the Sheraton Hotel in New Orleans. Visit to learn more and to register.

Over the course of the past decade, genetic sequencing technology has moved steadily out of a research-only domain and into clinical care. In fact, Illumina, Inc., reports that an increasing proportion of its sequencing is being used in clinical settings. As chief medical officer (CMO) of the company, Phil Febbo, MD, and his team are leading the company’s clinical strategy to fulfill Illumina’s mission to improve human health by unlocking the power of the genome.

Wide adoption of genomics into the clinic will take more than just technological advancement. Specifically, Febbo and his team help advance Illumina’s strategy around how sequencing technology can be best used to improve health.

A cornerstone of this process is validating the clinical utility of various diagnostic tests in given disease settings. In other words, “Does it really benefit patients to get the sequencing and have their care change based on that sequencing?” he explains. For tests in which the answer is yes, Febbo’s role is to determine what Illumina can do to accelerate clinical adoption, primarily by minimizing barriers for health systems.

As a presenter at this year’s Precision Medicine Institute Symposium, Febbo will discuss not only how genomic insights have the potential to improve health outcomes, but also address the challenges of introducing genomics into the healthcare system and the clinical community at large.


As chief medical officer of Illumina, Inc., Phil Febbo, MD, is responsible for developing and executing the company’s medical strategy to drive genomic testing into healthcare practice.

“Healthcare executives are working to understand precision medicine and the benefits of bringing it into their health systems,” Febbo says. “They also have a lot of questions and concerns about the potential complexity of the technology and its implementation. And they are trying to balance the aspirations and outstanding potential of instituting next-generation sequencing within their systems with the practical realities.”

Tackling Reimbursement Woes

Insurance coverage requires the development of high-quality evidence of benefit. It’s incumbent upon the genomics industry to invest in the studies that will deliver this data, Febbo says. As such, Illumina is working toward “de-risking reimbursement,” he adds, “by engaging with payers and collaborating with others who are generating evidence supporting clinical validity and utility.”

The number-one focus when engaging with payers is providing evidence of patient benefits, he says. However, health systems leaders also have to understand the economic impact of adopting any testing. “So you have to say, ‘Okay, here’s the benefit, and here’s the health economics of making that decision,’” Febbo says. “Sometimes, the cost of achieving that benefit is too great for them to prioritize, given the current constraints on our healthcare systems.”

To help influence positive reimbursement policies for precision medicine, Illumina has been active in supporting evidence generation that shows the health economics as well as clinical utility of the sequencing, he says.

Patients won’t benefit from genomic tests unless they can afford them, which for most people means that insurance coverage is critical. Costs are a natural concern for healthcare executives as well, Febbo notes. “The expectation for diagnostics in general is that they do not add materially to costs. So, we have to come up with models whereby adopting the diagnostic—be it next-generation sequencing or anything else—you end up with a break-even or cost savings for the system,” he says.

Reducing Nonfinancial Burdens

Although Illumina reports that it has so-far driven down the cost of sequencing dramatically, there are numerous nonfinancial burdens associated with adopting the technology.

In many cases, these include raising awareness and educating clinicians who may not understand the technology or how to use the results, Febbo says. “We’ve prioritized engagements to foster awareness and education around sequencing by engaging with professional societies, patient advocacy groups, and guidelines committees,” he says.

As a result, health systems are learning how to implement the technology, including getting systems up and running. “It is important that we make the process as easy as possible,” Febbo notes.

Physicians and patients are not interested in data for data’s sake, he adds. “Sequencing only makes sense if there’s the possibility that something can be done with the data,” he says. More and more, this is becoming the case, especially when it comes to cancer treatment. For example, there are now more than 40 cancer therapies with companion diagnostics in their labels, Febbo says.

As for the future, Febbo and his team will continue to provide healthcare systems with solutions that help drive sequencing into standard of care, with an emphasis on bringing improvements and new content to the clinical segments of reproductive health, rare disease, and oncology, he says.

—Debra A. Shute

Related Information:

Preparing Hospital CEOs for Success with Precision Medicine

Dr. Febbo's will be presenting Thursday, May 2: Illumina’s Strategies for New Tools to Drive Down the Cost of Precision Medicine and Improve Provider Coverage and Reimbursement