By Aaron Krol 

March 28, 2014 | Browsing through the Phoenix Rising forums – the largest online meeting place for people living with the mysterious neurological disease ME/CFS – can feel, to the uninitiated, a little like rifling through the collected letters of a hundred medieval alchemists, each suspecting he’s just two or three ingredients away from the exact formulation of an elixir of life. Members share, scrutinize, and revise the most extraordinary drug regimens you’re ever likely to find. Some ME/CFS patients post their entire personal pharmacopeias on the forums, which in extreme cases can run to twenty, thirty or more items, combining prescription and over-the-counter medications, vitamin supplements, “alternative” medicines, and dietary injunctions. 

Yet despite – or even because of – the dizzying blend of treatments, the spirit is largely one of rational inquiry and empiricism. Members drill into the cellular and metabolic activity of each drug they take, with an eye for conflicts and interactions with other items in their regimens. They add new treatments in low doses, build them up, and substitute related compounds over a period of months, tracking how each change affects their symptoms and whether it leads to side effects. Few aspects of their daily lives escape scrutiny – they debate ubiquinol vs. ubiquinone, but also tea vs. caffeine pills, meal schedules, ways to get light exercise.

Their liberal self-medication is not a deliberate thumb in the eye to the healthcare system, but a result of living with an often debilitating disease for which there is no standard of care. It is not clear what causes ME/CFS, or even whether it is a single disorder or a collection of related diseases. The most common symptoms are constant exhaustion, “brain fog,” and pain in the limbs and joints, but many patients also suffer from recurrent cold- or flu-like illnesses, gastrointestinal problems, and a perception that very slight changes in diet or behavior have large and lasting impacts on mood, energy levels and cognitive function. The most affected individuals may have trouble walking more than a few hundred steps a day, unloading the dishwasher, or concentrating long enough to read a book.

Even the name ME/CFS reflects a basic uncertainty about the disease. CFS stands for “chronic fatigue syndrome,” which is usefully descriptive but troubles many patients and patients’ advocates because it may come across as trivializing. ME stands for “myalgic encephalomyelitis,” which has a more authoritative air but may not be strictly accurate, implying that the syndrome is rooted in brain inflammation. Researchers have suggested any number of causes that might contribute to ME/CFS, including autoimmune disorders, infectious agents, genetic predispositions, and a number of psychological factors.

Faced with this level of uncertainty, and a desperate need to control their symptoms, each member of the Phoenix Rising community is essentially running an elaborate n-of-one study on the disorder, often with great diligence in recording the outcomes. 

Dr. Andy Kogelnik, and his Open Medicine Institute (OMI), would like to take “n-of-one” out of that equation.

Outcomes on a Patient-by-Patient Level 

 “We’ve built a system of healthcare that’s great at dealing with acute disease, but it’s really bad at dealing with chronic disease,” Kogelnik tells Clinical Informatics News. “And over half of Americans now have a chronic disease… There’s a lot we need to do in terms of measuring, and tracking, and understanding these diseases from a very different perspective.”

ME/CFS is far from the only condition in the Open Medicine Institute’s wheelhouse, but, says Kogelnik, “we view it as a really important model for chronic disease, and a model of what we need to fix in healthcare.” He first encountered the disorder as a fellow at Stanford; like most doctors, he had never heard of it in medical school. “I happened to bump into some of these patients in clinic,” he remembers. “They didn’t come out and tell me that they had chronic fatigue. They had actually come in for very high viral numbers on their labs, and the fatigue part only came out later in the story… It was a very interesting introduction into a field that has been at the fringe of medicine, but is affecting larger and larger numbers of people.”

For eight years at Stanford, Kogelnik worked as a bioinformatician, combining patients’ clinical information with molecular data, particularly from the genome. His projects were good at profiling patients at discrete intervals, but he felt that by relying on data that could be gathered in the clinic, he was missing out on a longitudinal picture, and on health outcomes important to the patients themselves. By the time Kogelnik founded OMI in 2009, with a mission to assemble a diverse clinical dataset for new studies into chronic disease, he had become convinced that allowing patients to contribute their own data to research was the only way to get a 360° view of a chronic illness.

Today, OMI maintains a biobank, an informatics facility, and a CLIA-certified laboratory for both molecular and physiological testing. The centerpiece of the institute, however, is its online platform, OpenMedNet.

OpenMedNet is a little like an electronic medical record, in that it captures and stores a patient’s history of medical problems, interventions, and outcomes. Unlike an EMR, however, the platform’s primary administrator is the patient, who can not only access the system at any time and enter new personal information, but also has final control over who can access her profile. Familiar clinical data can be included – prescriptions, test results, vital signs taken at discrete times – and for this data, OMI works with care providers to interface their EMRs directly into the system. But if patients want to track their diet, or exercise, or the frequency of their headaches over the course of a day, they can create fields for that information as well. 

 

The platform is free to patients, and they can treat it as a self-enclosed record-keeping environment if they want to. But most active users grant access to their physicians, seeing OpenMedNet as a way to share information that’s important to people living with chronic disease, but that doctors rarely seek out on their own. A patient’s profile is also a portal for communication, and doctors and patients can leave notes for one another. At the same time, patients can connect with other patients, to compare treatments and lifestyle management choices – and physicians can connect with one another as well. Says Kogelnik, who is still a practicing physician in addition to his role as Director of OMI, “We wanted a place where doctors would be able to say, ‘I’m seeing this patient, and I’m not sure what to do with him. Has anyone else seen a patient like this?’”

From the perspective of care providers, he adds, “you can actually start to track outcomes on a patient-by-patient level. With EMRs, the encounter ends when the patient leaves the hospital, and we don’t get long-term tracking data in terms of what actually happened when you gave that antibiotic, or that heart medicine. That’s a key piece that’s missing from the system.”

The Open Medicine Principle 

While these services are valuable in their own right, ultimately the patient portal in OpenMedNet is a gateway for research. OMI forms partnerships with insurers, foundations, government agencies, and pharmaceutical companies to take advantage of the large population of data in OpenMedNet for studies of complex chronic diseases. The model is not selling patients’ data to collaborators, but allowing patients to opt in to research – whether by taking advantage of prospective new therapies, or just donating information.

“The patient ultimately is the one who gets to decide how their data is shared, and with whom, and how they can view and access that,” Kogelnik emphasizes. Data can be anonymized and stored in dedicated registries for specific projects, or patients can grant total access to relevant areas of their profiles – and they can offer different levels of access to different collaborators.

This principle of data sharing is the defining feature of OMI. “[The name Open Medicine Institute] really came from the open source movement,” says Kogelnik. “Not that we’re going to open source everyone’s medical data, but we give people the option to have whatever level of openness they want around their data… We have a really high opt-in rate in terms of community participation.”

With its large core of patient volunteers, OMI serves as a base for two kinds of research projects. The institute can host clinical trials, reaching out directly to patients in OpenMedNet to quickly assemble large disease cohorts. The informatics facility can also retroactively mine the data shared through OpenMedNet for biomarkers in patients’ genomes, gene expression levels, or protein levels, which might be predictive of a disease’s severity or progression.

  

OMI focuses its research efforts on underserved chronic diseases, especially those with complex and variable pathologies. Current priorities, in addition to ME/CFS, include autism and Lyme disease.

“One thing that all these conditions share,” says Kogelnik, “is a lack of good diagnostic tests, and solid criteria around how you define a patient or case.” This makes biomarker studies all the more important, to help clarify the range of disease presentations, and potentially subdivide patients into meaningful groups of like cases.

These diseases also tend to share tightly-knit patient communities. While designing meaningful studies might be very difficult, finding willing volunteers is not. For a new autism initiative, for instance, OMI is preparing a partnership with Talk About Curing Autism (TACA), an organization of 40,000 families with children with autism. “They’re all very invested in finding answers for their kids,” says Kogelnik, “and they’re already partially online, so we can interact with a larger number of their membership.” From this population, OMI hopes to recruit 500 families willing to share samples for genome sequencing, immune system characterization, and pathogen detection, as well as daily information on diet and activity.

In the ME/CFS community, OpenMedNet is already becoming a popular destination, in part because so few organizations are investing resources into understanding the disease. A number of research projects are already ongoing, which Kogelnik is happy to rattle off. “We’re collaborating with groups like Applied Proteomics, looking at 300,000 different protein features in patients’ blood. We’re doing some whole genome sequencing with the Genome Center up at Stanford. We’re doing a couple of gene expression studies looking at pre- and post-treatment in responders and non-responders to certain medications.”

 

There are also straightforward clinical trials, including of the autoimmune drug Rituximab and the antiviral drug Valganciclovir, working on the theory that ME/CFS may involve a hyperactive immune response to a triggering infection. Because OMI investigates questions of interest to the patients themselves, trials are also underway on treatments with anecdotal support, but little theoretical grounding – including vitamin B12, the plant Moringa oleifera, and the antimalarial drug artemisinin. By scaling up to randomized, placebo-controlled trials, OMI hopes to steer patients toward therapies with sound scientific support.

Complementing Health IT Systems 

OMI is a community benefits corporation – “halfway between a full non-profit and a regular corporation,” says Kogelnik. In this capacity, the institute agrees to added financial transparency, and that its profits should be driven toward a social good.

Nevertheless, it is a for-profit business, and it has to find ways to create revenue while offering a free service to patients. Sometimes, this is tangential to the research goals of OMI. While the institute built its CLIA lab to draw and analyze samples for its own projects, it also rents out its laboratory services for contract work.

Clinical studies are a major source of revenue, whether by seeking funds for original ideas – OMI’s ME/CFS studies have attracted grants from the Centers for Disease Control as well as private donations – or by acting as a portal for patient enrollment, for studies created by pharmaceutical and diagnostic companies or philanthropic organizations.

Most importantly for the institute’s continued growth, OpenMedNet itself is a commercial product. For a few physician practices, OpenMedNet has been adopted in place of a traditional EMR. For larger healthcare providers, the platform can be linked to existing EMRs as an added point of contact between doctor and patient. OMI also provides these clients with integrated IT services – for instance, using OpenMedNet’s connection to wearable devices and other health monitors to alert providers through text or phone when high-risk events occur.

“That not only is part of our business model, but it is also a source of more data,” says Kogelnik. As hospitals and insurance providers connect their patient populations to OpenMedNet, OMI can bring thousands of patients at a time into the system. Only a fraction of those become active users, but it raises awareness of the platform, and helps attract healthy individuals to serve as controls in clinical studies. “We partner with a number of different insurance payers to provide wellness services to [their customers],” says Kogelnkik. “We help those people to manage and keep themselves healthy, and a certain percentage of them are attracted to helping us with research, and provide samples or data.”

Dr. Andreas Kogelnik, Founder and Director of OMI. Image credit: Open Medicine Institute 

In addition to driving future research, OMI’s work as an IT provider for healthcare systems can offer some immediate clinical benefits. In an ongoing project, the institute is using Cepheid’s Xpert rapid tests for microbial infections, and building medical alert systems that can keep pace with the diagnostic technology. “Even if a rapid instrument is in a lab,” says Kogelnik, “the data doesn’t always get back to the physician and the patient to make a decision and put them on treatment. We take the result directly off the instrument, and push it out through a system of secure alerts on mobile devices to the doctor, who could then make an instant recommendation for treatment.” The system also allows the doctor, after reviewing the diagnosis, to send a second text alert to both pharmacy and patient. “It alerts the patient that they have a new diagnosis and a prescription waiting, and by the way, based on your mobile phone you’re half a mile from a pharmacy so would you like us to send the prescription there?”

“If you cut down some of the time to treatment, you can have very large impacts on the diseases you’re trying to treat,” he adds. “There’s a lot of waste in the system in terms of lost time, which translates into increased mortality or morbidity.” With programs like this rapid text alert, OMI hopes to make its IT service more attractive as a complement to a large EMR, which is rarely flexible enough to serve as a portal for doctor-patient communication. This in turn generates revenue and introduces OpenMedNet to new groups of patients, allowing OMI to gradually take on new diseases like multiple sclerosis and certain cancers.

“We view this as a personalized medicine platform,” says Kogelnik. “EMRs were built with research and billing in mind. Our system is built with investigation and collaboration in mind.”