Based on his experience integrating genomic technologies into clinical practice “in the early days” of the late 1980s, Dr. Popovic cited four interrelated issues that the field will have to grapple with on its way to maturity.
“People’s credentials define their turf in medicine, and people in bioinformatics currently don’t have any turf defined.” This is the first of the issues, he said. Although genetics and genomics are applied in pathology labs, bioinformatics is not part of lab medicine or pathology—it is “essentially a group of outsiders trying to break into somebody else’s turf.”
Second, the bioinformatics community “hasn’t really developed algorithms and had to put them through a clinical sieve to become the standard of care.” This is a long and laborious process, and it is important to understand that the road from a cool algorithm helping to pinpoint the meaning of a VUS, to becoming standard of care, is a long one.
Third, the field needs to grapple with how to get reimbursed for their efforts: “You have to up front reconcile what you’re going to do to get paid for that. You truly need a business plan to show how you’re going to execute this and actually put it into clinical practice.”
And last, there is a need to understand where to aim the technology to answer questions that are relevant to the physician who will be ordering the test. Just because something can be done doesn’t mean it will be.
Dr. Karsan pointed out that from the user’s perspective, even a targeted panel of 40–50 genes—let alone a whole genome or whole exome sequence—is still a lot of information coming in. It’s important to have tools for visualization of that data, and to have an easy way to interface with the databases that are currently available.
Ultimately the pathologist would have the sequencer hooked up to the hospital information system, which can then kick out a report saying a test is positive or it’s negative—not detailing the VUSs that may be interesting to follow. Because, explained Dr. Popovic, “that’s absolutely meaningless to the doc that has 30 seconds to read the report and give an answer to the patient. They need a yes/no.”