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A longitudinal study using improved clinical trials, multi-gene platforms and portable health assessment devices resulted in 67 clinically meaningful major observations among 109 participants. The study was published online today in Nature Medicine.
The results, stemming from Sophia Miryam Schüssler-Fiorenza Rose, MD, PhD from Stanford University, and their colleagues, are long overdue. The project began with a 2012 report on monitoring a single person with multidomic profiling for 14 months. This precedes the All United States initiative of the US National Institutes of Health, resulting from President Obama's Precision Medicine Initiative initiative in 2015, as well as efforts in the private sector by Human Longevity Inc. of Craig Venter.
"The 2012 paper laid the foundation and started this whole area, we all do longitudinal profiling, but only once a year, and we do not yet know what tests it is doing," said the co-chair. lead author Michael P. Snyder, PhD. , Chair of Genetics and Professor, Stanford B. Ascherman Genetics Chair, Faculty of Medicine, Stanford University, California.
A menu of measurements
The report provides proof of concept as to how many assessments, old and new, can guide preventive health care. It offers examples of how some discoveries have led to further tests and diagnoses. "The goal is to use these advanced technologies, as well as profiling people in the longitudinal direction, to see if we can detect early signs of the disease and make predictions," Snyder said. Medscape Medical News.
For now, it's a research study, but Snyder expects that these advanced technologies will enter into medical practice. Marketing projects are underway, he noted.
The study aims to provide "a new taxonomy of diseases based on molecular measurements," a definition of precision medicine. "We have capitalized on the depth of longitudinal profiling to identify the deregulated molecules and pathways associated with the transition from health to disease," the researchers write.
The components of Big Data include genomics, proteomics, metabolomics, transcriptomics, immunomics, interactomics and microbiome analysis. Portable devices provide measurements of fitness and continuous monitoring of glucose.
Some of the clinical tests used were standard, such as complete blood count and lipid evaluation. Others have been improved, such as cardiovascular risk tests. In addition, participants responded to surveys assessing physical activity, stress and diet, and they underwent drills and other physiological tests.
Most of the participants were registered 6 years ago. the median period of participation was 2.8 years. Participants were assessed quarterly.
The cohort was enriched for diabetes risk and the study included a battery of assessments of insulin resistance and glucose dysregulation. The improved metabolic profile took into account the diversity of the microbiome and the markers of inflammation and obesity.
However,
Exploitable Findings
Longitudinal profiling has yielded many clinically relevant outcomes, including the presence of diabetes or prediabetes, heart disease, risk of stroke, cancer or risk of cancer, hematologic abnormalities, and dementia. # 39; infection.
A clear trend was that participants tended to be unaware of the loss of glycemic control. Of the 86 participants who reported no type 2 diabetes or prediabetes, 43 had prediabetes, including one with a diagnosis of the health status and one with an HbA1C level close to that of diabetes.
"We have caught eight diabetics under development by constantly monitoring their glucose and insulin levels," Snyder said.
Exome sequencing showed that a participant diagnosed with early-onset diabetes mellitus (MODY) did not actually have the mutation in question. HNF1A gene. Another participant who did not receive a diagnosis of MODY was the mutation carrier.
"The messages here are that diabetes and prediabetes are very heterogeneous states of variable glucose dysregulation, that metabolic states can be improved and that individuals have multiple different trajectories," said Gilbert S. Omenn, PhD , who is Harold T. Shapiro Emeritus Professor of the University, Director of the Center for Computer Medicine and Bioinformatics and Professor of Molecular Medicine and Genetics, Human Genetics and Public Health at the University of Michigan.
These data and data from a 9-month longitudinal study conducted by Omenn show that large personalized data can be used to guide behavioral coaching to improve clinical biomarkers, Omenn said. Medscape Medical News.
Cardiovascular risk factors also emerged in the Stanford study and led to diagnoses during follow-up. Six participants had subclinical atherosclerosis; for three participants, oxygen consumption was low; two had supraventricular nocturnal tachycardia, one due to sleep apnea and the other to atrial fibrillation; a person had dilated cardiomyopathy that was attributed to a mutation of the RBM20 gene; and 18 people had stage II hypertension.
Five participants had a stroke during the study – a fact that highlights the potential value of pharmacogenetics. A woman who was taking aspirin had a mutation that, when taken with aspirin, increased her risk of a cardiovascular event by 85%. Another clopidogrel metabolized weakly. The transcriptomic RNA has identified an increased risk of stroke in another patient. Subclinical inflammation, mainly due to cytokine activity, was detected in all five patients.
Exome sequencing detected eight patients with genes that increase the risk of cancer, including: APC, BRCA1, and CHEK2. Asymptomatic lymphoma was detected from changes in the microbiome. One patient had an enlarged spleen, which was then successfully treated.
Thirty patients were anemic; for 28 of these patients the diagnosis was new. Immune globulin (Ig) levels were abnormal in 10 participants and one of them had a myeloma that was incubating. Myeloma and one of the Ig abnormalities were precancerous, thus allowing early diagnosis and treatment.
With intense longitudinal monitoring, surprises can happen. This was the case for Snyder himself, who was followed for 8 years.
"Lyme disease appeared as a change in heart rate and oxygen drop in the blood." I thought I was sick and I thought it might be the disease. Lyme, because I was in rural Massachusetts two weeks ago, different types of measurements revealed the conditions of the disease very early, "he said.
Data led to lifestyle changes
For 58 participants, researchers assessed the effect of surveillance on lifestyle aspects of health. Half of these participants reported having better sleep, less stress, more frequent self-tests, an increase in fiber intake, that they kept food diaries and participated in fitness camps.
Of the 68% who discussed their findings with their physician, 29% had follow-up assessments, including genetic testing, colonoscopy, positron emission tomography, diabetes monitoring, and eye exams.
The careful study of the study participants did not seem to be stressful to them. "While precision medicine approaches have the potential for unnecessary anxiety and over-testing, we have not observed this in our population," the researchers write.
One limitation of the study is that the participants were highly educated volunteers; for this reason, the generalizability of the results can be limited.
Snyder is a co-founder of Personalis, SensOmics, Filtricine, Qbio and Akna. Several authors report patents related to the work or other commercial interests. Omenn does not report any relevant financial relationship.
Nat Med. Posted online 8th May 2019. Summary
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