Site icon Dr. Kara Fitzgerald

Musings from PLMI’s Third Annual Thought Leaders Consortium: The Future of Genomics in Healthcare

It wasn’t that long ago I was playing Pong on Atari with my best friend Kevin. Or popping open that ubiquitous AOL tin to harvest the CD with free AOL hours. Or even searching for a working bottle of white-out for my early college term paper typos.

And now here we are, plunged headlong into so many revolutions — tech, industry, medicine; and white-out is perhaps a mystery substance to my younger colleagues.

This extraordinary leap forward, was almost my experience at this year’s Personalized Lifestyle Medicine Institute conference. But the reality is, as Functional Medicine practitioners, we can exhale. We are exquisitely situated to adopt these leaps and incorporate them. Indeed, there is much we’re doing already. At the end of this blog, I’ll cover what I do now in my practice, what I expect to include soon, and what I will pay close attention to for the future.

A thrilling ride forward

Liz Lipski, PhD, summarized it best: the PLMI 2015 conference was the first time that truly new information was being put forth, information that will radically transform how we practice medicine. In contrast, most conferences thus far have evolved and deepened our current understanding. I heartily agree.

Get ready for an expansion of our tools. Be ready to routinely lean on bioinformatics for support in analyzing the thousands of omics data points you will obtain on your patients.

The quantified self

In addition to omics data points, your patients will supply real-time measurements daily to their personal “data cloud,” ranging from basic biomarkers like blood sugar, weight, diet changes or social interactions. Together we will observe these in the context of our patient’s particular omics map. Early perturbations, such as in lifestyle, biomarkers, or stress load, will alert patient and physician alike to potential imbalances needing attention.

Jeff Bland, PhD, will be making the PLMI 2015 lectures available to everyone at www.plminstitute.org. Of note is Ausiello’s talk on careful observation of cytokine pattern changes and social interactions predicting onset (and transmission) of the flu, days to weeks before it happens. Or changes to the microbiome, predicting onset of Type 1 Diabetes (T1DM) a full year beforehand!

ResearchKit, Apple’s data cloud for HIPAA-compliant data capture is open sourced and allows researchers to create user-friendly apps that individuals can download and use to enter their data in real-time. Already in use in a number of different settings, ResearchKit’s study participation rate wildly exceeds that of standard clinical research.

Analyzing the Omics

Those of you FxMed folks enamored of your biochemical pathway charts — myself included — know that we will soon be routinely pondering data derived from this:

 

From Mukherjee, 2015 PLMI presentation.

…as often as we now turn to this:

From Pangborn, Flowchart of Amino Acid Metabolism. 1987. Scratch notes by KF.

Like the microbiome connection to onset of T1DM above, get ready for trends that will guide us towards seeing very early patterns of disease risk in our patients. For example, a preliminary observation made by Nathan Price, PhD, Lee Hood MD, PhD, and others at The Institute of Systems Biology in their Pioneer 100 study (publication available soon) was the association between high levels of two common GI microbiome phyla (proteobacteria and verrucomicrobia) and inflammatory bowel disease in the presence of a higher number of IBD-associated single nucleotide polymorphisms (SNPs). Will elevations of these phyla be something we routinely monitor for changes in individuals with certain SNP patterns? Perhaps.

Recall that the genome-wide association studies (GWAS) thus far are not strong when it comes to the significance of a single SNP (or smaller SNP patterns) and disease association. Multiple SNPs, however, layered with additional omics data along with lifestyle habits or toxin exposure, will allow us to see meaning in genetic studies in a stronger, more reliable way.

The Emergence of Big Data: The meek shall inherit the earth

As an author of a book of case studies (case studies, often maligned as N = 1 investigations), I appreciate Big Data, where the lowly N = 1 becomes lofty. With millions of N = 1 data points the collective data patterns drive the hypothesis formation, rather than the hypothesis driving the research direction: Let the data talk.

Understanding autism: A powerful example of how Big Data will be useful

A CDC survey released on November 13th demonstrates yet another increase in the incidence of autism, now at 1:45 children up from 1:80 at the last CDC report a couple of years ago. While some attribute this rise to better reporting, the underlying fact remains: The incidence is rising and we don’t know conclusively why. Big Data has the potential to tease out the many influences causing this meteoric rise. And more importantly, Big Data will enable us to identify those most vulnerable to the development of autism, so that interventions can be started earlier, even preconception.

One final and provocative idea from PLMI was put forth by cancer researcher and author of the 2010 Pulitzer Prize winning book, “The Emperor of All Maladies,” Siddhartha Mukherjee, MD. In addressing the idea of individualized diets, he pointed out the “highly pleotropic effect of food versus the single mechanism of a drug.” He urged caution in the dietary prescription, given the unknowns of certain nutrients on certain conditions. The day will come when highly individualized (beyond what we’re already doing now) dietary prescriptions will be made based on an understanding of the active constituents of food interacting with the omics of the individual. We may see contraindications of certain healthful foods and diets under certain genetic conditions.

BUT WHAT ABOUT TODAY?

As Jeff Bland always reminds us

By utilizing the decision-making format of the Functional Medicine Matrix and associated tools, the clinician is learning how to apply the concepts of the “N-of-1 experiment” in a systems biology context“.

We’re already considering the whole person, their environment, genetics, epigenetics, mitochondrial function, microbiome and more.

I think the laboratory tools we’re currently employing should be continued, albeit with an eye toward future expansion. Organic acids, amino acids, fatty acids, oxidative stress markers, hormone assays, inflammatory markers, microbiome assessments, toxin assays and SNP testing: All have their places in the Functional/Systems model.

Our approach to care is likewise useful: An active partnership with our patients; a higher level of patient contact; multidisciplinary support teams.

What I do expect to be adding now are wearable devices such as FitBit, iWatch, Jawbone. I believe these have immediate utility in tracking real time patient data. See the PLMI presentations of Molly Maloof, MD, and Robin Berzin, MD, for a good survey and evaluation of what’s available.

Text messaging support: Research demonstrates the utility of this in patient adherence. We offer a down-and-dirty six day detoxification program in my practice (open to anyone cleared by their doctor). For our next detox, we will initiate auto text support using a free app.

Helen Messier, MD, PhD, IFM faculty and FM certified practitioner: Helen is a clinician/researcher at Health Nucleaus (HN), a clinic developed by Dr. Craig Venter. Health Nucleus is conducting IRB-approved research in a clinical setting looking at the whole genome, metabolome, proteome, microbiome and other labs along with a total body MRI. They employ bioinformatics and have an onsite geneticist. As they vet the technology, what they identify as useful in this cutting edge clinic will no doubt influence my direction in the future.

Part of HN’s capabilities includes generating individualized cancer vaccines derived from an individual’s T cells which have been sensitized to the unique cancer-specific proteins identified cancer genome sequencing. I’ve just referred a patient for evaluation.

In conclusion

Fortunately, I don’t expect to surrender my Pangborn (or Expasy) biochemical pathway charts anytime soon- their content will remain useful to us. And the Matrix will continue to serve us well into the future. That said, there are updates I will make now, and I will follow my colleagues who sit on the edge with eyes wide open. It’s an inspiring time to be practicing Functional Medicine, and that was perhaps the biggest “take-home” from 2015’s PLMI. Now where is that bottle of white-out?

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