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The Enola Telemedicine Platform

Updated: Jan 12

In this post, I'll describe the way Medical Intelligence One is redesigning the process for rare disease diagnosis. Breifly, it looks like this:

We'll use the numbered steps in the image above to describe the process.


Step 1: Enrollment

To get started with the Enola Telemedicine Service, we will need some basic identifying information from the patient and permission to obtain the necessary medical records.


Step 2: Records Retrieval & Information Extraction

We electronically receive the patient's medical records. These records are scanned by automated systems to extract key information.

At the same time, the patient is given the opportunity to fill out research-grade structured quetionnaires.

From this point forward, the patient is given access to an online patient portal and a symptom-tracker app to continue gathering information which could be critical for solving the case.

As the patient's information is gathered, key findings are displayed on a timeline. The patient is given the opportunity to review the timeline, fill in additional details, and comment on items which look incorrect.

When the patient is satisfied that their case is well represented, they schedule their first appointment. All scheduling is done through the online patient portal or mobile app, and all appointments are held through online video conferencing.


Step 3: Case Review & Testing

At the initial video conference appointment, the patient and physician review the patient's case together. They use the patient's timeline as a reference. When the patient's story has been told, they import the patient's key findings into the Enola Rare Disease Search tool (beta version available to test out here) and review the diseases that are suggested. The patient is able to confirm or deny whether they have some of the other signs and symptoms of the diseases on the list, which causes the list to re-sort itself. At this point there are three main possibilities:

  • The patient's case fits all necessary diagnostic criteria for a single disease. At this point, the patient has a diagnosis and can move on to Step 4.

  • The patient's case could fit a few different diseases, and further tests are necessary to confirm a diagnosis. These tests are ordered, and the patient returns for a follow-up appointment. If testing confirms a diagnosis, the patient moves on to Step 4.

  • The patient's case does not seem to fit any of the 10,000+ known diseases. Even in the top healthcare institutions, this point is often seen as a dead end. On the Enola Telemedicine Platform, we do things differently. Finding the limits of our current human knowledge is Step 3a, but we're not finished yet. Let's move on to Step 3b.

Step 3b: Participate in The Registry of the Undiagnosed

We have been preparing for this moment from the very beginning. The patient has already provided deep information on their signs and symptoms. Genetic testing has been ordered if appropriate. The patient is tracking symptoms.

Now, we combine the patient's data with data from thousands of other people who are also searching for a diagnosis. Patterns emerge. Patients cluster together in groups of shared signs and symptoms.

Patients are given the opportunity to meet other people who are learning to cope with the same symptoms, which can be an incredibly powerful resource for those who struggle with undiagnosed conditions or rare diseases.

Step 3c: Enola's Knowledgebase Updates

The first version of the Enola Rare Disease Search draws on data from Orphanet and the Human Phenotype Ontology. Both of these sources are continuing to grow as more information is published in the medical literature, and Enola grows with them.

In addition, we are developing methods to scan the world's medical literature to construct the world's most clinically advanced knowledge graph. Knowledge graphs are powerful because they can capture important relationships (e.g. this causes that), and they hold information in a way that allows both humans and computers to draw reasonable conclusions from the knowlege they contain. This deep technology will allow us to examine our patient's data in ways that have never been possible before, searching for the key to a diagnosis or a new disease, and perhaps even suggesting treatments.

Finally, as mentioned in Step 3b, our systems also learn from the data contributed to the Registry of the Undiagnosed. New diseases are discovered. New associations between symptoms and existing diseases are revealed.

Step 3d: Monitoring for a Match

As the patient's data grows and the world's medical knowledge grows, we continue to perform automated rare disease searches using Enola. Eventually, enough evidence accumulates and a disease match is flagged for review. If the evidence looks strong enough, the patient is contacted for a follow-up appointment. If testing is necessary to confirm the new diagnosis, it is done and we move on to Step 4.


Step 4: Connection to Disease-Specific Care

It is an uncomfortable truth that diagnoses usually come with a degree of uncertainty because every human experiences diseases slightly differently, and because our collective knowledge of diseases is still far from complete.

Still, we aim to build enough evidence for a diagnosis to be convincing and useful. When we reach that point, we arrange the concluding appointment.

We have heard the same story from far too many people: once they finally had a rare diagnosis, they had no idea where to turn for help. Nobody in their circle had ever seen it before. They had to scour the internet until they finally started to find a community, and the lucky ones found their way to clinicians who had experience with their specific disease. As a clinical service dedicated to rare disease diagnosis, we know we can do better.

Step 4a: Referral to Physicians with Disease-Specific Experience

We are building a database of clinicians who have experience with specific rare diseases. We are starting by cataloguing those who already have rare disease patients, but we won't stop there. This database will also give physicians the opportunity to raise their hand and say "I will now become an expert in this rare disease and start taking patients who have it." This will help to increase the professional coverage across the 10,000+ rare diseases. Whenever possible, we will refer our newly diagnosed patients to physicians who have experience with their disease.

Step 4b: Introduction to Disease-Specific Patient Advocate

For many people, a diagnosis means a community of people who understand what they are going through like no one else could. These communities are often formalized as Patient Advocacy Organizations that concern themselves with a single disease or a group of related diseases. They offer information, emotional support, and many other practical resources which can be life-changing for those they serve.

With the patient's consent, we will facilitate a virtual meeting with a representative from the most relevant patient advocacy organization as soon as possible after a diagnosis is confirmed. We know a new diagnosis comes with a torrent of questions, and early connection to others who have the disease can provide much-needed support at this crucial time.

Step 4c: Referral for Clinical Research

For many people with a new diagnosis, one of the first questions is, "What is the treatment?" For about 5% of rare diseases, there are drugs that treat the disease itself. For the other 95% of rare diseases, there are (sometimes) ways to treat symptoms, but not the underlying disease. That is why research is so crucial to people with rare diseases. For many, it is the only hope for a treatment or even a cure.

From our first interactions with a patient, we have research in mind. All of our processes that collect data are designed to support scientific inquiry. Remember that timeline the patient creates during Step 1? When you combine these timelines from several patients with the same disease, you get a natural history study that shows how a given disease progresses over time, and what factors affect that progression. Remember that symptom tracker the patient has been using throughout the diagnostic process? It can be used to show both positive and negative affects of various medications on various diseases.

For many diseases, there are already clinical trials underway. With consent, we will connect newly diagnosed patients with the clinical research organization that is administering the trial.

Step 4d: Introduction to Patient Affairs Professionals at Pharmaceutical Companies

Pharmaceutical companies that produce drugs for rare diseases (aka "orphan drugs") often employ patient advocates or patient affairs professionals. These are often people who have been personally affected by rare disease, whether in themselves or their family members. Their role is to provide education to patients, be the listening ear to understand the needs of those they serve, and to advocate for those needs within their company. They or their colleagues may also help patients get access to medications when the patient's financial constraints would prevent the patient from getting the treatments they need.

Since these professionals can be powerful allies in a space where it can be hard to find help, we will provide our newly diagnosed patients their contact info and we will facilitate a virtual meeting if the patient desires.


Calls to Action

If you have any input on the process I described here, please feel free to comment below or contact me at

If you would like to join the Enola Telemedicine Service as a patient, you can find the waitlist sign-up at

If you are a clinician (pediatrician, internist, or family medicine, clinical geneticist, or genetic counselor) and are interested in taking cases on the Enola Telemedicine Platform, please contact us at

If you are an accredited investor (angel or institutional) or would like to make a donation to accelerate our deployment to all 50 U.S. states and beyond, please contact us at

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