Content and Visual Design by Tiffany Simms
Presenting Tinkering, Tweaking, and Tuning: Big Data and Little Data Coming Together in Chronic Disease, DrBonnie360 shows the 4th annual Medical Informatics World Conference 2016 (Boston) the time is now for personalized prevention.
DrBonnie360 discusses the invisible epidemic, advances in omics and tracking, and research in epigenetics, the microbiome, nutrigenomics. Lastly, she presents an image of what personalized prevention could look like in the near future.
23. Big Data and Little Data Coming
Together in Chronic Disease
Tinkering, Tweaking, and Tuning
+1.310.666.5312
drbonnie360@gmail.com
www.drbonnie360.com
@DrBonnie360
www.facebook.com/YourAutoimmun
ityConnection
Bonnie Feldman, DDS, MBA
DrBonnie360 is helping companies and
entrepreneurs counteract the autoimmune
epidemic. Through consulting, market
research, writing and speaking, she works with
teams using data and digital tools to reshape
research, diagnosis, treatment and prevention
of autoimmune disease.
Editor's Notes
Welcome, I am Bonnie Feldman, affectionately known as DrBonnie360 and I am delighted to be at Medical Informatics 2016 in Boston.
Today, where we will talk about how big data and little data is coming together in chronic disease. These are amazing times, where we are getting the chance tinker, tweak and tune our own bodies using lifestyle modifications.
For those of you who want to tweet, my twitter handle is @DrBonnie360
Let me get some idea of who is in the audience.
Do you work in medical informatics? Patient care?
To make this topic come to life I am going to share a story about Judy
.Judy is a compilation of what we have learned from interviewing over 200 digital health companies and attending more than 50 digital health conferences. Most recently Judy did preconference survey at Medx as well as Twitter polls at SXSW. You can learn more in the patient story section of my we site
She may look normal and healthy but yet everyday is a masquerade
She actually has IBD, hip pain, chronic fatigue and chronic pain
There are actually more than 100 different kinds of autoimmune diseases.
Autoimmune is underserved and unrecognized despite the fact that they affect 16% of the US population, more than cancer and heart disease combined! It is one of the top ten leading causes of death in women less than 64 years.
Yet, autoimmune diseases (including T1 diabetes) receive only $1B in NIH funding per year, unlike cancers, which get 7 times as much funding.
Can you believe, it takes on average more than 3.5 years and 5 doctors to get a diagnosis? During this time, 45% of patients were dismissed as hypochondriacs.
In a recent Medicum post entitled “The Invisible Epidemic of Autoimmune Disease” after analyzing the chronic disease stats, I was surpriesed to discover that since autoimmune diseases are still counted individually we have failed to appreciate the magnitude of the problem.
Autoimmune Diseases are practically invisible
Advances in the ability to collect, store, move and analyze large data sets have
Ignited the growth of new fields collectively called omics
Omics information is one of the many types of data sets contributing to big data in biological research.
Genomics is what can happen to DNA. The Genes are hardwired and can only be altered by mutations. It is the study of genes, how they are expressed in cells and the role they play in biology
The Human Genome Project
Epigenomics are environmental influcences on the DNA. These influences are exciting because new research shows we can modify our fate.
Transcriptomics- what appears to be happening at the RNA level
Proteomics is what makes it happen on the protein level, where proteins from mRNA modulate cellular metabolsim
Metabolimics- all this comes together as cellular metabolism
Taken together, comprehensive omics based strategies will give us a systems biology approach to better understanding health and disease.
Looking deeper at omics here, in a Feb 2015 Nature article called “Methods of Integrating Data to Uncover Genotype Phenotype Interactions”
we can see the need for multidimensional, multistage analysis to better understand the phentoytpic variation in complex diseases.
Epigenetic contributions include
Dna
Histone
mRNa
Figure 1 | Biological systems multi-omics from the genome, epigenome, transcriptome, proteome and metabolome to the phenome. Heterogeneous genomic data exist within and between levels, for example, single-nucleotide polymorphism (SNP), copy number variation (CNV), loss of heterozygosity (LOH) and genomic rearrangement, such as translocation, at the genome level; DNA methylation, histone modification, chromatin accessibility, transcription factor (TF) binding and micro RNA (miRNA) at the epigenome level; gene expression and alternative splicing at the transcriptome level; protein expression and post-translational modification at the proteome level; and metabolite profiling at the metabolome level. Arrows indicate the flow of genetic information from the genome level to the metabolome level and, ultimately, to the phenome level. The red crosses indicate inactivation of transcription or translation. CSF, cere
https://www.benaroyaresearch.org/what-is-bri/disease-information/autoimmune-diseases#.Vvw_OYwrI1g
Data is now giving us the ability to visualize the relationships between many chronic diseases.
Here we see the connections between
Aggregating large data sets is also showing us new relationships between diseases such as shown here
Coming back to Judy, Judy knows that she has autoimmunity in her family
But she wonders about the question of nature vs nurture.
Do her genes dictate her future? Or can she modify her genes.
Large scale genetic studies GWAS can only explain about 20% of causes of autoimmune, so there must be more to the story.
Epgenetics is the changes in gene expression related to environmental influences without alterations of the underlying genomic sequences.
In human diseases, the genome and epigenome operate together. Tackling disease using information on the genome alone has been like trying to work with one hand tied behind the back. The new trove of epigenomic data frees the other hand. It will not provide all the answers. But it could help researchers decide which questions to ask.
With a basic understanding of Epigenetics Judy wonders who these epigenetic mechanisms and processes play a role in autoimmune disease, either in the immune system or the target organ
Epigenetics Roadmap Project using large data sets to xx and xx
http://www.roadmapepigenomics.org
Evidence for epigenetic modifications in autoimmune disease
Epigenetic modifications in immune system with others in target organ
Combination of external simuli such diet, exposure to sunlight, chemicals, drugs, txoins and internal such as aging , stress and sex hormones
Judy hears about Obama’s Precision Medicine Efforts and wonders how the concept of personalization as shown in the cartoon will apply to modifying her life sty
As shwon here to the left, although we are beginning to understand the relationships btwn the genotype and phenotype, the directionality of effects is still being worked out.
While Epigenomics contributes to the dynamic range of phenotypes
Different epigenetic signatures play an important role in the orchestration of intestinal homeostasis
While Epigenomics contributes to the dynamic range of phenotypes
Focusing on Precision medicine this gives us an opportunity to modify our lifestyle and tune our bodies.
As shown here each of us makes everyday choices to eat healthy or not, to exercise or be a couch potatoe and to xx
Let’s look at some of the data elements that allows us to tune our body.
Convergence of rapid innovation in biology and the it infrastructure has enabled microbiome research to progress quickly. We now understand that the gut is an organ of immunity and may even have connections to brain that control our moods
We can think of the microbiome as a whole new ecosystem that represents the body’s microbial garden. The human microbiome is composed of the microbes, as well as their genes and genomes that live in and on our human body. We used to think that the only good bug is a dead bug. But new research tells us otherwise.
What is a microbe?
Too small to be seen by the naked eye. Include bacteria, archai, fungi protists and viruses.
The body hosts a large number of microbes of different kinds.- a new type of ecosystem that lives on us and within us. All over us such as the skin, the mouth, the vagina, the nose.
Microbes are beneficial and help us in digest many things in our diet such as vegetables that we could not digest without microbial enzymes, provide energy for metabolism make essential microbial genes than human genes and the way these microbial genes interact with human host may describe their role in health
Diversity each individual has a unique microbial fingerpoint and is determined by microbial habitat, Location and Gut permeability are also key to healthly metabolism.
.
What is the role of food, microbiome and immunity? How does the network work?
Shown here- the green line food affects the composition of the commensal bacteria.
The work of Larry Smarr shows us how personal tracking over time, longitutidinal data collection can give us iinsights into prevention.
For example
Is epigenetics the key to personalized nutrition?
Nutrigenetics vs nutrigenomics
New research is showing us that diet choices are closely linked to both health and disease. A Nov 2015 article in Cell shown above, demonstrated that people eating the same recommended diet had vary different blood glucose responses. This means the current diet recommendations need to be personalized to take into account individual differences in metabolism.
A 2013 paper in Journal of Proteome research describes how comprehensive phytoprofiling and metabotyping for personalized nutrition research gaining an understanding of the two profiling approaches for personalized nutrition with recent advances in the study of role of phytochemicals in regulating human metabolism.
A third paper in Clinical Epigenetics 2015 “From Inflammaging to healthy aging by dietary lifesytle choices, Is Epigenetics the key to personalized nutrition?” Increasing evidence that complex interactions between food components and histone modifications, DNA methylation and non-coding RNA expression.
Euqlly as important as foodasmedicine and often over looked is the importance of muscholoskeletal integrity.
Although usually thought of as posture, there are now suggestions that the alignment of body is related to the expression of CNS
Posture and normal physiology are interrelated. Posture affects and moderates every physiological function from breathing to hormonal production. Abnormal posture is evident in patients with chronic and stress related illnesses. Homeostasis and nervous system function are ultimately connected with posture.
Amazing times of convergence of science and technology.
On the technology side we apoke about x x and xx
On the science side we have xx and xx giving each of us the abiility to #diy health or #hacktoheal.
Although we are making a lot of prgresss using data and digital tools to xx and xx
What can Judy do now?
This is a graphic of a feedback loop
Positive reinforcement and gentle nudging with a coach
Title Judy needs an integrated team
What should Judy do about her other problems? Her Because Judy also has the genetics for osteporosis along with her current hip pain, she wonders how can apply this proactive approach to her posture.
She is aware of the importance of posture based upon some of the latest articles claiming that sitting is the new smoking, but that does not tell her how to address her skeletal issues.
Without much guidance, Judy is left with experimentation.
http://www.nature.com/ni/journal/v16/n5/fig_tab/ni.3151_F1.html
If Judy is dreaming of integration and care coordination,what might the data layer that serves as a glue look like?
Here is one view that shows
Genotypic and environmental variations contribute to producing a wide range of individual phenotypes. Today a person's genome can be mapped precisely with molecular-profiling technologies such as next-generation high-throughput sequencing. A person's exposure to environmental factors could be measured with mobile sensors that could detect, for example, weather conditions, pollution levels or pathogen exposure. In addition, molecular-profiling tools could also determine microbial ecosystems on the skin or mucosa, or in the gut of an individual, as well as in the immediate environment, such as soil, air or dwellings. Similar technologies could in turn be used to characterize an individual phenotype, whether at the molecular or cellular level (transcriptomes, proteomes, metabolomes, etc.), or at the behavioral level (diet, sleep, physical activity, or tobacco or drug use). Other phenotypic characteristics, whether physical or clinical, could be captured by traditional means (scale, measuring tape, laboratory tests and X-ray or computerized tomography scans), and all collected information would contribute to a person's own big data that would be used to inform clinical decision making.
Title: Integrated Autoimmune Medicine
Behavioral Modification: Jiyo, MyGIHealth
Coaching: Noom, Welkin
Care Coordination: Twine Health, Canary Health, Open Medicine
Twine Health
Twine Health is a patient engagement, collaborative, health-goals coaching software platform. Twine motivates patients to lead themselves in the management of the goals associated with their total health through a revolutionary new model focused on between-visit care-plan activity management, directed in close concert with their clinicians and a health coach. Six years of clinical research provides evidence this disruptive, yet patient adherent approach, yields unparalleled improvements in quality outcomes, costs, and patient experience.
Noom Health
NOOM. - hybrid coaching. Has a behavior change coaching platform that integrates artificial intelligence and human touch. Work alongside integrative delivery systems who have enterprised disease management software that identifies those that are high risk for chronic disease. Between noom and artificial intelligence personalized process of behav change improvement aka integrated delivery. Aggregation of behavioral and biometric data where each person has their own baseline. Personalized structure curriculum. Social context.