An extensive whole-body MRI scan discovered cancer in 2% of the Health Nucleus study’s participants.


This $25,000 physical has found some ‘serious’ health problems. Others say it has serious problems

Personal DNA sequencing once promised to up the ante for individualized medicine. Perhaps no one believed that more than human genomics pioneer J. Craig Venter, who in 2014 co-founded a company called Human Longevity to predict and prevent disease by sequencing a million human genomes. But Venter is no longer content with your DNA. His latest venture—a subsidiary called Health Nucleus based in San Diego, California—says it can detect undiagnosed health problems by combining DNA analyses with a $25,000 workup including a whole-body MRI scan, metabolomics screening, 2 weeks of constant heart monitoring, pedigree analysis, microbiome sequencing, and a glut of standard laboratory tests.

Enthusiasts of “precision medicine” say this kind of screening—similar to the U.S. National Institutes of Health’s (NIH’s) Precision Medicine Initiative—is the way of the future. But many other clinicians and researchers are leery or even downright outraged by the program’s potential for over diagnosis and what they see as lack of evidence for its benefits.

Late last week, Venter and co-workers quietly published a paper on the preprint server bioRxiv—which does not use peer review—that presents data from the new project. According to the study, screening detected “age-related chronic diseases requiring prompt (<30 days) medical attention” in 8% of the 209 participants, and MRIs found early-stage cancer in 2%. However, Health Nucleus did not confirm that the data were from its $25,000 medical exam, although descriptions of the diagnostics were nearly identical.

“It’s a classic Craig Venter study that pushes the envelope of what is considered reasonable,” says Olivier Elemento, associate director at the Institute for Computational Biomedicine at Weill Cornell Medicine in New York City.

Meanwhile, Venter has been making the media rounds to promote the screening. On Fox Business, he said the exam finds “something seriously wrong” in 40% of participants (though that claim is left unexplained). CBS News reports that Venter’s group can predict Alzheimer’s disease 20 years in advance by scanning the 20 regions of the brain. And STAT news reports that the exams detect tumors early enough that every participant with cancer so far has been able to treat it, even the notoriously unforgiving pancreatic cancer. A spokesperson for Human Longevity said they would not comment on the contents of the paper until it is published in a peer-reviewed journal and Venter did not respond to requests for an interview about the company.

Critics aren’t buying it. “If I wanted to write a Swiftian parody illustrating the insanity of this extreme version of [precision medicine], I could not have written a better paper,” says Nigel Paneth, a pediatrician and epidemiologist from Michigan State University in East Lansing, who cites a litany of problems that could result from the study including psychological damage, high medical costs, unnecessary tests, and “the absence of the slightest shred of evidence that any benefit will accrue to anyone.”

Eric Topol, director of the Scripps Translational Science Institute in San Diego says this is “kind of the most extensive diagnostic evaluation of people that has ever been done,” but he takes issue with billing the study as a precision medicine screening. “Is this precise or is this promiscuous?” he asks. “That term ‘precision medicine screening’ is very difficult to accept unless you prove that you are actually helping people. That hypothesis is still unproven after this paper was published,” Topol says. “What if it helps one and harms 10?” He’s particularly concerned  about running tests on people without a sound rationale. “Don’t do a bunch of tests unless there is a good reason; otherwise you get a bunch of false positives.”

The study included twice as many men as women, and participants ranged in age from 20 to 98, with an average age of 55. A whopping 78% had “evidence of age-related chronic disease or risk factors,” which for the majority translated to diabetes or risk of atherosclerotic disease. Michael Joyner, a medical doctor and integrative physiology researcher at the Mayo Clinic in Rochester, Minnesota, also notes that more than 70% of the participants are currently taking prescribed medication for high low-density lipoprotein cholesterol and hypertension. “To tell me that a bunch of 60-year-old men with prolonged EKG monitoring had some funny heartbeats … is news, give me a break,” he says. “The whole thing is an example of technology run amok from a belief that if you can measure it, it must be meaningful.”

But the amped up testing has its proponents. “The overdiagnosis concern is completely overexaggerated,” says Michael Snyder, the director of the Stanford Center for Genomics and Personalized Medicine in Palo Alto, California, who made news 5 years ago when he detected his own diabetes by intensively studying his body. “Some of the stuff they found seems pretty serious, so I think it is a good thing to catch that early,” he says, predicting that in the future, “we will be measuring thousands of things much more routinely.”

Despite Venter’s personalized genomics evangelism, the study’s results pointedly indicate that “the genome alone doesn’t tell you the whole story,” says Elemento of Cornell. Only 25% of patients had probable links between gene variants and disease phenotypes. “But when you can combine genes with an additional readout that tells you the gene is doing something, your ability to predict disease increases dramatically.”

Some see the early data from Health Nucleus as the potential start of another Venter–versus–the government scenario. “What Venter has done here is pretty much the goal of NIH’s Precision Medicine Initiative, and I imagine Craig envisions immediate scale-up to compete with that particular government project,” says Robert W. West Jr., who previously taught a course on precision medicine at the State University of New York Upstate Medical University in Syracuse. “If this is really Craig’s goal, then he would likely beat NIH to the punch again.”

Health Nucleus says 570 people have participated in the full $25,000 panoramic medical workups thus far, but this week they launched a $7500 pared-down version that focuses on the full genome sequencing and full-body scan.

“This is a study that is going to remain controversial,” Topol says. “And maybe it is futuristic, but I think most people in medicine who understand the history of this will know that this is potentially engendering trouble and doing all sorts of tests that don’t have any basis.”