November 23, 2016 | In 2009, Patrick Merel began noticing how difficult it was for some of his physician colleagues at the University Hospital of Bordeaux to make use of new genomics data. 

Merel wants to change the conception of how data is acquired for medical research. This is why he has recently launched a mobile app through his company, Portable Genomics, that allows users to monitor their genetic data and control how it is distributed to corporations for research.

Spending several years as an academic in France, Merel was in charge of molecular diagnostic platforms at the University Hospital of Bordeaux. He traveled to San Diego in 2004, where he would spend the next year working for Beckman Coulter, where he helped start the Nucleic Acid Business Center. Upon returning to France, Merel realized he no longer wanted to be an academic after getting a feel for high-tech startup companies.

So in 2013, Merel launched Portable Genomics. Based in San Diego, the digital health company currently consists of Merel, a panel of consultants, and a five-member board from the life science and pharma industry. In the developing stages of Portable Genomics’s app, Merel sought out the help of Raffi Krikorian, a former VP of engineering at Twitter and who is currently the Engineering Lead at Uber's Advanced Technologies Center. Krikorian participated in drawing the specs of the Portable Genomics platform, making sure it would scale in the future. The company’s goal is to provide individuals control of their personal health data in order to facilitate sharing with healthcare providers, payers, and life science organizations leading to improved healthcare and smarter health discovery.

The company has developed several prototypes since its founding with the hopes of achieving that goal, including PG23, an app that let users visualize and explore their 23andMe genotyping results. In 2014 Portable Genomics launched another app called SaveMy23, to archive 23andMe data.

Now, Merel hopes to bring the worlds of pharmaceutical researchers and everyday patients closer together, as well as making sure patients are compensated for sharing their data.

Clinical Informatics News’ writer Benjamin Ross chatted with Merel about what separates the Portable Genomics app from competitors, and where Merel sees Portable Genomics moving. (The transcript below has been edited for brevity and clarity.)

Clinical Informatics News: Patrick, how is Portable Genomics different from other efforts to return patients’ data?

Patrick Merel: The more you talk about genotype, the more you talk about the need to access phenotype. So this is how I moved into a project that was not only focusing on genomics data, but how to aggregate to genomic data, phenotype data. That is, medical, lifestyle, behavior, wearables. How can we aggregate all of this data as users, as patients? How can we embrace the precision medicine model that is to make more significance out of aggregated data.

The idea at Portable Genomics to enable patients to aggregate their genomics data to their medical, lifestyle, behavior data all together on their side, in their own silo. This is a very big difference of my project. A lot of people talk about patient centric solutions; this is real patient centric platform. We give back the control of the data to the users, to the patients, but at large to users, to people. So this is enabling users to gather data from data providers, that is gathering data from electronic records. This is gathering data from the Internet of Things. Gathering data from wearables, and this is entering manually data. When you look at what is done elsewhere, it is usually providing an application to enable you to collect data into the cloud silo of the application maker. We are not doing this. We are enabling the storage of data on the user’s mobile device or the user’s personal cloud…

I'm talking about user's personal cloud like iCloud. iCloud connections are encrypted, data on iCloud is encrypted, even Apple and the FBI do not have access to user's data. Then, we will gradually provide users the choice of other cloud solutions that have similar privacy policy to ours, clouds that encrypt transactions and storage, clouds which never access user's data, like Bitcasa for example. Portable Genomics won't provide its own storage…

At this point, what is different from elsewhere is if you would like to collect cholesterol data and let’s say genetic data, you will need an app to collect your genetics and you would need an app to collect your cholesterol data. Then you would have an app for your wearables, and an app for your mood or whatever. Here, I want the patients to gather data into a single app. And if the users are willing to collect data that does not have any application or way to enter, then let’s provide the users a way to collect this type of data. So if a user would like to collect cholesterol data, genetics, wearables, and would like to collect, as well, the time spent with friends, then he has the ability in our application to create data collection module to collect this time he would be spending with friends.

How does the mobile app work? What are the steps taken from data collection to data distribution?

If we want to find genotype to phenotype correlation, we need to access data. So how to engage patients to share data in a very comfortable way and with a very transparent business model… As this application enables users is to [indicate to] PG their willingness to share data in the future. So PG is not asking patients about their data, we just ask patients their willingness to share data in the future. What I’m asking as well to the users is, “What type of data are you collecting with our platform?” For example, I want to know if you are collecting your cholesterol data, but I don’t want to know your cholesterol label… I don’t want to see your data, I just want to understand that you are interested by collecting data from cholesterol. That’s all. And I want to know if you’d be willing to share in the future.

So privacy and transparency are key to the foundation of Portable Genomics?

Absolutely. Why provide your genomics data to someone to get a service when you have this service right away on a mobile device that keeps your data private?... So from the privacy perspective, it’s a new paradigm, and from the regulation perspective it’s a new paradigm as well. PG doesn’t access or doesn’t store personal health data. So all the technology and all the business model I’m going to explain you is done without seeing personal health data from users. That’s a very, very big difference.

What’s the business model at Portable Genomics?

Users can have access to this data, and later on we will be providing services right on their mobile, from their mobile. The purpose of this platform today, and my go-to market strategy, is, indeed, the general public is of interest to me, but I won’t go to the general public right now. What is in my short term interest is to talk to people who are already collecting data for survival because they need data. And who are those patients? They are patients with [rare] disease, they are patients from foundations, they are patients from patient advocacy groups, those patients with a particular condition, with a particular disease. They collect data for survival. They have a real need to collect data. So my strategy today is to have a conversation with foundations, with patient advocacy groups, and let’s explain to them that we have a platform that is of a new type.

I’m saying to the foundations, to the patient groups: “Guys, you have needs and you want to accelerate discovery for your condition. Let’s talk together with academics; let’s talk together with the pharma industry. And let’s plan the data exchange deal. And if it is a deal for data with the pharma industry, this will be for money and the revenue that we’ll make will be shared 50/50 with the patients. Now the patients not only have a way of accelerating the pace of discovery and research, because they can provide data that is already existing, and believe me, there is a lot of cohorts of patients out there with data, and certainly they understand that there are business models is a personal health data space in which patients can be associated with the revenue. And for the patient groups from foundations, it’s really a new way of raising funds. From the pharma side, it’s enabling a direct connection with PG as an enabler, a data broker if you will, but enabling through PG a direct connection with patients who are very engaged, willing to share data, and willing to accelerate the process of discovery. And what I just described to you, this is the goal of precision medicine, right?

How do you find patients?

I have started to approach foundations one by one, and I have found that joining meetings where patient groups and foundations are regrouping, it’s a good place. Now, I’m working with two foundations, and with these two foundations we are into a pilot phase and I’m looking forward to demonstrating publically the use of this technology and the business model, and then I think we will go viral. Because a lot of people are talking about the possibility to share money with patients, but, come on, no one is doing it.

How are you hoping to manage all of the data that is being collected by patients? It would seem that there would be a lot of potential data to be stored, and only a limited amount of space on a mobile device.

That’s a fair question that I’m being asked often. I think when you talk with that type of patient with [rare] diseases, or genetic diseases like cystic fibrosis, they’re collecting a lot of types of data, including genetics and genomics… What we’re talking about is a 200-300 genes panel from a tumor genomic profile reporting to the patients if they have one, two, or three mutations… I think when we talk about what type of data is important for the patients to have a look at, or to monitor across a timeline of their condition or disease, it’s not that much. So when we talk about exome sequencing, genome sequencing, x-ray imaging, this data can be regulated to the personal cloud of the user; it doesn’t have to remain on the mobile device. The patient doesn’t care. For an exome or genome sequencing set of data, he would need a list of variants organized into a nice way that can be easily portable onto his mobile device. And guess what? This is the first patent that we have: how to facilitate the visualization of genomics complex data onto a mobile device. Our patent was issued last July and it relates the browsing of genomics data to a metaform. That is, browsing your genomics data like an iTunes library. What this enables is to browse genetics data an album collection on iTunes or whatever. So who doesn’t understand about iTunes? So if I can facilitate the browsing of genomics data onto an iPhone, people would be willing to upload their exome or genome data onto their own cloud, and then accessing their profile very simply with a consumer-friendly interface from their mobile. The big chunk of data doesn’t need to reside on your mobile for sure. But we want to give the users the feeling that their data is in their full control. They know where the data is, they know to whom we would be sharing the data with, and they know that if there is a monetization somewhere they would be associated every time.

What are your plans for Portable Genomics moving forward?

I really need to get attention from investors to help me to validate this technology and business model as fast as possible. We have a beta product, we have partners, I have already had a discussion with some pharma industry, but I need to sustain this company and deliver this technology and business model application… This is important for me to let the world know that we are close to getting there, and I think this will be a very important step for patients and for precision medicine processes in general, so everyone who could help me is welcome!