Although billions of dollars and lots of positive public attention have been lavished on the promise of genetic-based “precision medicine,” this therapeutic approach to treating cancer and other serious diseases may need more scrutiny for basics of quality control.
National Public Radio deserves credit for airing some less-heard experts’ worries about the roles of at least two groups of little-seen and often-ignored medical specialists — pathologists and med techs — and how their common practices may undercut the potential of efforts to target disease treatments to individual patients based on maps of their genes.
Despite its powerful and progress-promising name, precision medicine relies on some old-fashioned, unchanged, and possibly problematic medical techniques, experts told NPR. Blood and tissue samples, which later will be analyzed with costly and supposedly state-of-the-art equipment, still get taken by med techs with limited training. Little attention typically gets paid to how they collect samples and how carefully they get handled before arriving in labs. They may sit on carts for hours, and they may be dragged through different parts of hospitals where temperatures vary widely and can hit extremes.
Medical scientists already have raised concerns about techs’ techniques and handling of samples, especially the care with which they get labeled and the potential for the huge volumes of them to get mixed up once they get to pathology labs. But with precision medicine so reliant on these samples and tests, these worries carry even more weight.
Pathologists already had challenging work, scrutinizing big numbers of samples at high rates and under tough time constraints — it can be akin to acting as a combined wall paper inspector and art critic on deadline, peering all day long at specimen after specimen to determine how abstract patterns may indicate disease or its activity. With precision medicine, those subjective judgments, as well as big numbers of tissue samples and the possibly tainted information derived from them and potentially problematic material from electronic medical records, get rolled up into pricey and proprietary tools. This diagnostic software and equipment supposedly offers the benefit to individual patients of giant databases of medical knowledge, which are then matched to their profiled genes with effective drugs and other treatments.
But proponents concede that patients may get different diagnoses depending on the branded machines, physicians, and hospitals. Have the early and accelerating efforts at precision medicine really been more about “garbage in, garbage out,” as one medical scientist described a worst-case scenario? Is this cutting-edge technology built too much on tissue samples that were old, corrupted, or degraded, and on subjective judgments, which, carried out on an exponential basis, may not bear out?
It may be that this therapy, because it taps into such volumes of information, may not have problems with small flaws in tissue samples or interpretations — they may be what medical scientists call “big data noise.” Or will computers and artificial intelligence be applied so that pathology improves significantly, and with it, precision medicine?
Dr. Richard Friedberg, who has just finished a term as president of the College of American Pathologists and is the pathology chair at the University of Massachusetts Medical School-Baystate, told NPR about precision medicine, its materials, and practices: “We need to be sure that the stuff they’re looking at is valid, accurate, reliable and reproducible.”
That sounds good to me. In my practice, I see not only the big harms that patients can suffer while seeking medical services, but the huge woes inflicted on them by all-too-common misdiagnoses. Reports about fancy treatments like personalized medicine — especially if they tilt too much to the optimistic, as Canadian researchers have found them to — can not only skew views about important obstacles that need to be overcome, they can offer patients sad, false hopes. In their time in office, President Obama and Vice President Biden were right to challenge medical science to push for progress in areas like personalized medicine. But here’s hoping this therapy is solidly grounded in science and evidence about its actual outcomes, and that its proponents and the public don’t get carried away with just its promise.