NEW YORK (GenomeWeb) – Results from a Stanford University-led study aimed at analyzing genomics and tracking various health markers in a group of 100 healthy individuals appeared today in Nature Medicine, offering new evidence of the kind of impact that this approach could have in detecting illness early and potentially helping people better avoid or manage disease conditions.
As investigators continue to follow the study cohort, the data as it stands has been deemed strong enough to adapt into a commercial offering, providing the backbone for a new company called Q Bio, founded by Stanford genetics chair Michael Snyder, Harvard Medical School researcher Garry Choy, and entrepreneur Jeff Kaditz.
The company's program is membership-based with a fee of $4,995 per year (currently discounted to $3,495) and covers whole-body MRI, various physiological tests, comprehensive genetics, and longitudinal retesting at regular intervals, as well as in cases of a health change of some kind.
In their report on the study, Snyder and his coauthors wrote that their combination of baseline genomic sequencing, health monitoring via wearable sensors, repeat blood tests, and microbiome analyses, resulted in the detection of more than 67 clinically actionable features in the studied cohort over an average of three years. The discoveries ranged from high blood pressure, arrhythmias, cardiomyopathy and early-stage cancer detection, among others.
Among the list of disease-related findings, 13 resulted directly from the genomic analyses performed in the study (as opposed to blood monitoring or other measures). Two were alterations associated with serious heart defects. "In one case we saw a mutation in a cardiomopathy gene, and that person did a stress echo as a follow up and actually had a heart defect," Snyder said.
Another individual, one of several who entered the study with a diabetes diagnosis, was found to have a MODY mutation, meaning their diagnosis of Type 2 diabetes was incorrect and their treatment needed to be changed.
Joining these examples, several participants were found to have mutations in cancer predisposition genes, such as APC, SDHB, BRCA1, MUTYH, and CHEK2.
According to Snyder, showing that this kind of in-depth genomic profiling and close monitoring can detect actionable information, even in ostensibly healthy individuals, is a first step toward proving that such a model would improve outcomes and overall health.
So far, that ultimate clinical impact or utility is still just a suggestion. But it is enough of one that Q Bio believes it will be able to market this type of analysis and monitoring to individuals and their physicians.
Snyder and colleagues highlighted in the study that many of their findings would have been missed by typical health screens used today. And in a majority of cases, the discovery led to an intervention, from smaller things like increasing drug dosage or changing some health behavior, to the Lymphoma case, which resulted in successful treatment for that cancer.
In the case of the cardiomyopathy finding, Snyder said that while this could have been detected in other ways, it would have been unlikely without the team's genomic finding. "Yes, they could have run a stress echo, but that's not normally done. It's kind of expensive and it's very inconvenient," he said. "It's just not part of standard health practice."
In the case of one individual who was found to have a cancer predisposition mutation, they received a fully-body MRI as a result of that finding and it was discovered that they had thyroid cancer, detected early enough for a surgery removing only part of the gland. "So, they don't now need thyroid hormone treatment," Snyder said.
Q Bio has launched its operations just as competitor Arivale unexpectedly closed its own doors. In some respects, Snyder and his team echo many of the same concepts that Arivale espoused, including their belief in the value of longitudinal monitoring to reveal genetic and other molecular insight into disease transitions or shifts from health to disease and vice versa.
Like Arivale, Snyder said that Q Bio also believes that its tracking of these transitions could lead to the discovery of new biomarkers, which, could in turn, help prove the utility of this type of service.
For example, one of the more serious discoveries in the trial was in a participant who was found to have lymphoma after researchers noticed they had an enlarged spleen. "This was picked up by imaging," Snyder said. "But, we had other biochemical markers quickly reinforce something was not right there."
One marker in particular appeared about 12 months before the diagnosis, he added, which makes it look like an exciting potential early cancer marker.
Authors of the study also mentioned that certain findings may point to new molecular predictors for cardiovascular disease risk.
Unlike Arivale, Snyder said that Q Bio is much more stringently health focused in its model, as opposed to straying into wellness or fitness. That said, the company is not offering health advice to customers. Its model is to provide genomic, blood monitoring, and imaging test readouts, which patients review with their doctors.
Though Q Bio faces the same hurdle in convincing customers that its approach offers actual clinical impact, the firm may be in a better position than Arivale was by focusing its attention on areas in which there is an easier case to be made for actionability and therefore impact.
For Arivale, the challenge was to prove that health coaching based on genetic and other analyses actually improved patients' outcomes at a level worth the price of its services, which shifted several times during the few years the firm was active.
While Snyder said the study carried out by him and his colleagues also recorded things like self-reported behavior change, he argued it was rife with much more direct examples of impact than changes in diet and exercise. One reason this may have been the case, Snyder said, is his team's embrace of much deeper and broader genomic analyses.
Our study "really has a lot more measurements than [prior efforts]. We do transcriptome, microbiome, we do the entire genome, and I think this is one reason why we see so many health discoveries. It's because we pored over the genome very, very carefully," he said.
Snyder agreed that it may be easier for Q Bio to make a case for itself in certain areas, at least at first, than to convince the field of utility in this type of testing and monitoring in a general population.
"I think the one area we're hoping we'll have big impact in is on the cardiovascular space," he said. "If [people with cardiovascular disease] have an event, they can become severely crippled and wind up on long-term disability, which is extremely expensive. I think in some areas it should be a no brainer where people are at this type of risk."
He also said that there may be an easier sell for older individuals — who are, overall, at higher risk of developing a disease of some kind — and for caregivers of older folks and of children, for whom a model like Q Bio may offer a desired ability to keep track of the health of the person they are responsible for in ways current systems don't allow.
The company has only recently begun its commercial service, but Snyder said that even in the initial group of customers, the firm has already detected an early pancreatic cancer.