A Peek at the Precision Medicine Market - Cover

A Peek at the Precision Medicine Market

Attending the Digital Health Investment Symposium was one of the greatest treats I’ve had this year, and the dollop of whipped cream on top was getting to facilitate a fascinating panel on precision medicine.

The symposium attendees and I got to listen to the smartest people in the room (and probably some of the smartest in the world) talk about the current state of the precision medicine market and what they hope comes next.

Exciting Developments in Genomics

We first heard from Justin Brueck, Assistant Vice President at Northshore University Health System in Evanston, Illinois. He noted that personalized medicine has a lot of potential for future growth because there isn’t a current market leader in the space. This is especially true of genetic testing.

Providers at many health systems may worry that they won’t get reimbursed for genetic testing, but Brueck doesn’t share that concern. “Most of the genetic testing companies out there will take on that risk for you.”

He also pointed out that the things providers can learn from genetic testing may save hundreds of thousands of dollars. “The real benefit, though,” he reminded the attendees, “is that we are making a difference in patients’ lives.”

One of Brueck’s specific goals is to help patients understand the new technology in the realm of genetics and use the information that can be gleaned from that technology. “One of the easiest ways for us to engage patients in genomics is to start looking at low-risk areas,” he noted. “For example, patients are willing to pay $99 for ancestry information.”

Dr. Tony Magliocco, Chair of the Department of Anatomic Pathology at the Moffitt Cancer Center, also had encouraging information to share about new genetics technology. He related some of his experiences at one of the oldest cancer registries in North America.

He and his associates had found patients who had been diagnosed with colon cancer before the age of 40 and created a specific program for them. As one of the first programs in Canada to focus on heredity, it had helped set up the patients with genetic counselors.

“The new technologies are really extraordinary,” Dr. Magliocco told us. “We can look at the data on a cellular level and in real time. We can even do a blood test and monitor exactly how many cancer cells you have in your body.”

Dr. Magliocco also rejoiced in the effectiveness of immunotherapy and other ways the new technologies are helping in the war on cancer. “As a physician, it's really wonderful to live in this time and to actually see cures.”

Difficulties with Applying New Technology

After a discussion about the dazzling side of the precision medicine market, Dr. John Quackenbush, Director of the Center for Cancer Computational Biology at Dana Farber Cancer Institute, reminded the symposium attendees of several roadblocks in the field of genetics.

“There’s an arms race in the diagnostic companies,” Dr. Quackenbush said, “and the panel is getting bigger and bigger. But if you actually look at what's clinically actionable today for any disease, it's maybe 10 individual mutations.

Physicians on the ground don’t want 20 pages of variants of unknown significance. They want a couple of things tied to an approved therapy for the disease in question. They want the information delivered in a simple, clean, easy format.”

Dr. Quackenbush pointed out that while current technology can deliver a set of actionable mutations, the complexity involved in the field is high, and providers are lacking sorely needed phenotype data. “We really need an integrated system with information about the patients, their family history, and their diseases so that we can make sense of everything.”

Some companies are trying to solve problems by investing in artificial intelligence (AI), machine learning, and deep learning. But Dr. Quackenbush pointed to recent failures of one such company, the difficulty of getting FDA approval for devices, and the shortcomings of AI. “You can train AI to find tumors in CT scans; we have thousands and thousands of examples of that. But trying to match a patient to a therapy is very tough.”

What the Market Needs Next

The panelists concluded that in order to maximize the potential of personalized medicine, investors and healthcare providers will need to take several steps. “We need to decide what is commercially viable as opposed to just academically interesting,” said Dr. Quackenbush. “Investors have to think about what is known and whether they will see a profit in either the short or medium term.”

Mr. Brueck emphasized the necessity of cooperation between investors. “A lot of different stakeholders are going to have needs—the laboratories, oncologists, data warehousing folks, and so on,” Brueck predicted. “No single company is going to be able to figure out how to meet all of those needs, and I wouldn’t encourage any single company to try right now.”

The panelists also agreed that investors and providers must never lose sight of the ultimate goal: getting precision medicine to the patient level.

Dr. Quackenbush mentioned the potential in the biomarker space and noted, “But what we want to do is take those biomarkers and translate them into a meaningful endpoint that we can deliver to physicians so that the markers can have a positive impact on care.”

Clearly, precision medicine is a hot topic with plenty of questions to be answered. What will provider organizations do with the genetic data they gather? How will companies get that data to providers and patients at the point of care?


Some health systems and investors are already working to find answers, and I look forward to sharing evidence of these efforts in real clinical environments through our upcoming report, Precision Medicine Provider Validations. The challenge for KLAS is to establish what solutions and services are most viable today.


Stay tuned for more information on how we’re collaborating with the industry to identify the most critical components of a robust enterprise precision medicine program.


Photo Credit: Shutterstock, Syda Productions