What Business Model Do We Want For Our DNA Data Privacy?
An open letter to Julia Reda, European deputee
What Business Model Do We Want For Our DNA and medical Data Privacy, In a World Where the Value of Datasets Will Be Much Bigger Than the Value of Genetic and Medical Tests?
Dear Julia Reda,
I am an MITx student (biology and bioinformatics), working on a “CRISPR Science & Society” project, initiative by the Doudna Lab in Berkley and Facebook Japan. When dealing with data privacy at the European level, the new science of gene editing can be seen as a tsunami, but also as an elephant in the room.
“Judging by how things are going, I think my grandsons will manage their own health in a private cloud, in predictive mode, as designed and implemented by a made-by-China iCarbonX, or by one of the GAFAM companies. It will be a Netflix biz model, and it will cost them $10 per month.” (French blogger and @nthropologist Jean-Michel Billaut, France)
As you may already know, Emmanuelle Charpentier, a French biologist, is one of the world’s foremost scientific figures for her co-discovery of CRISPR, a biological (wet lab) and computer (dry lab) tool for modifying the genome of any living organism.
Emmanuelle Charpentier, a French biologist, currently heading the lab for Infection Biology at the Mack Planck Institute, Berlin.
Here is my question for you in the field of health. I am following the work of Chinese engineers in the field of xenotransplantation — how to get transplantable organs for humans via pigs, thanks to the latest advances in biology with CRISPR and other gene editing tools. In turn, I listen to President Xi Jinping’s speech to the armies of engineers who are the lifeblood of the Middle Kingdom nation. Did you know that roughly 80% of executives from the Chinese government are experienced scientific engineers? In the US, the figure is a mere 2% — instead of 80%.
MIT has had its innovation center in Hong Kong since 2005, and plans to open another center in Beijing and Shanghai within five years. Source: MIT Chief 2017 Annual Conference.
“Your DNA & medical data on your smartphone. Browse it on iTunes, own it & monetize it.” (Portable Genomics, San Diego)
So my question for you is about the technical options for Europe regarding digital health and medicine. My genome or my DNA data on my mobile phone. What is the science behind it? Your DNA & medical data on your smartphone. Browse it on iTunes, own it & monetize it. In China, technical options have been reviewed, choices have been made already. As I am not sure if this is the case in Europe, I would like to present you with the options that are available. You might expect some help from the USA here, but unfortunately, at the moment biotech giant Illumina Inc. in San Diego seems to have chosen astrology as a way to market the brand new science of direct-to-consumer genetics (see their spinoff Helix) rather than science.
If you wanna have your DNA sequenced, do your homework! If you are considering buying a DNA test for yourself or someone else, don’t waste a couple of hundred dollars on useless stuff. Not all DNA tests are equal or offer the same value, this short article by @NEOdotLIFE compares several tests. My favorite, as an MIT student, is Veritas Genetics, a Harvard Medical School company.
French @nthropologist Jean-Michel Billaut recently wrote about Portable Genomics, a startup in San Diego (CA) — the founder is French biologist Patrick Merel (Bordeaux), link to the information in French on his Facebook wall here:
“Portable Genomics launches its NuMe application globally on Apple’s Appstore … Portable Genomics launches a public beta of its NuMe iPhone Application, intended initially for patients with Cystic Fibrosis. It allows these patients to collect a set of parameters related to this genetic disease, but also to respiratory diseases in general, to share them with their relatives and health staff, and to decide whether they wish (or not) to participate in academic or industrial research projects.
Sign in to the Beta NuMe Program here: http://nume.website
In general, this application is intended for all patients who wish to collect and save their health data, their genetic or genomic data, their life style data, and other connected objects, privately and securely on their iPhone. Portable Genomics, whose privacy policy is very clear, will not collect health data, will not store health data; instead patients will do it, on their mobile phone and their personal cloud for their personal safeguard, as they own their medical and genomic data.
This application is intended for patients who wish to accelerate the latest developments of precision medicine so that they can take advantage of it. It is based on access and sharing of patients data with healthcare, research and industrial institutions. It is an application controlled entirely by users, who store data on their own mobile and not in an institutional cloud, who decide to share or not their data with academic or industrial third parties, and who are associated with the revenues each time that the monetisation of their data can be realised. No hidden monetisation. A patient participating in a pharmaceutical project that is requesting his data is clearly informed of the purpose of the study, the kind of data that is required, the duration of the study, and the amount of his remuneration, even before sending his data which remain private and stored on his own mobile phone.
In the era of precision medicine, genomics and artificial intelligence, without data, no success. Access to these data and their value are real scientific and commercial issues.
These data belong to the patients, they are the owners, they have paid for them, Portable Genomics’s app gives them total control over their data and empowers patients who can now be at the heart of business models that are designed for today’s medicine — why wait until tomorrow to implement patient-centric medicine?”
NuMe is based on the Apple Testflight app: https://developer.apple.com/testflight/
It turns out that Portable Genomics’ technical choice is the offline storage of patients’ DNA variants (no private cloud required) and to exchange data and monetise on the patient’s side, the blockchain will be used:
“In our process, a blockchain layer adds cryptology and traceability to a data packet. The user sends his data to the outside, it encrypts automatically and adds a tracer, it is blockchain technology. His data is protected when leaving home, and the app client is able to make sure that the data have arrived and will be used for approved purposes, and if a payment is made, traceability is attached to the transaction. The function of decentralisation that is achieved by the blockchain technology is managed via specific and various keys.
Protect your genome by storing it in a cloud? why not store it at home rather, disconnected, that’s a good protection. The technology of Portable Genomics platform will allow you to do that. Then, when you need to share your data with health professionals (those able to use it), or with academic or university hospitals, with the pharmaceutical industry to get medical advice or monetise your data, as it can be worth up to $ 20,000 and more, a Blockchain technology is added to ensure traceability and payment. All done by Portable Genomics.” (Interview with Patrick Merel, November 25th 2017).
It can be guessed that China (iCarbonX & Tencent) and probably Amazon and Apple are heading towards more expensive technical solutions … We have to store the complete genome and all the annotations relating to it. When you read about genome storage, you need to know that the amount of data coming out of the sequencing machines can go beyond 120 GB. But honestly, what we need, the sequence of our genome, and the list of differences from the reference human genome, is less than 5GB, says Merel. When using a service such as 23andMe or similar, the storage space needed is 20MB. A genomic tumour profile, less than 5MB.
Technical solutions chosen by China might be data that are being stored in encrypted mode in a private cloud, with encryption and decryption keys for storage and transit that are multiple, and shared by different actors of the business model, including the patient.
This obviously will be way more costly than the alternative as proposed by Portable Genomics, but Tencent can afford it … The argument is to say that in some cases, such as breast cancer and cystic fibrosis, some proven and known genetic mutations give the disease. The famous variants. The low hanging fruit in direct to consumer genetics. Where a handful of variants are responsible for a disease or a given phenotype, the model of Portable Genomics seems very useful to me. Less is more. For the future, however, as the research seems to be moving towards a complete sequencing of the genome, because of the so-called epigenetics control levers, which we hardly know a thing about today … For many diseases, and their prevention, knowing about just a handful of mutations might not be good enough… In most cases, there might be more triggering factors, spread over the entire genome (the equivalent of the map of the world). But we are still very far from knowing, deciphering and interpreting all the DNA data of everyone (the individual genome).
For the sequencing of a complete genome and all that we can do with it, it will take private clouds, encrypted data, encryption and decryption keys, distinct and multiple, in addition to the blockchain, which in this system plays the role of the sealed envelope. In direct-to-consumer genetics, think of the blockchain as a notary of some kind.
The take-home message: if we want to start with actionable processes that will make the real science in direct-to-consumer genetics survive and thrive — as we are still far from deciphering the complete DNA, at least today — the biz model of Portable Genomics seems to fit in. Maybe Illumina Inc. will end up adopting it?… Patient-centred care is what Dr. Eric Topol’s bestseller The Patient Will See You Now was about. Merel’s biz plan seems to be tailored to the book, with the French touch.
“Just like Portable Genomics, Carenity and PatientsLikeMe want to help patients and advance research. Only we do not have the same economic model. The de-identified data are collected and monetised by Carenity and PatientsLikeMe, but patients don’t own their data and don’t share the revenues, they are not part of the monetisation process. Our platform does not access patient data, and associates it with revenue when monetisation exists, in a data exchange process that occurs directly between patients and the data buyer.” (Merel, November 24, 2017).
I am not sure what the European market will decide. Will the expensive and complex technical solution be implemented by a European player? Will we get started with a business model that is fair, simple and modest — still a better alternative than losing the battle of data privacy altogether and handing over to US or Chinese consortiums and governments our private data… French blogger and @nthropologist Jean-Michel Billaut is talking about these risks:
“Au train où vont les choses, je pense que mes petits-fils se feront suivre en mode prédictif par un iCarbonX chinois, ou l’un des Gafa pour 10 $/mois à la Netflix.” (Facebook, November 25, 2017)
“Judging by how things are going, I think my grandsons will manage their own health in a private cloud, in predictive mode, as designed and implemented by a made-by-China iCarbonX, or by one of the GAFAM companies. It will be a Netflix biz model, and it will cost them $10 per month.”
I am talking about protecting our sovereignty. Personally, Portable Genomics is an interesting option for me, as I do not wish to hand over my data privacy to US or China governments. Now, here’s a little insider joke: if I want to receive the CRISPR-updates, tailored to my genome, that will be made and sent via Desktop Genetics, my genome will have to be online. So the technology behind Portable Genomics will have to evolve accordingly, even if off-line storage of data is good for starters.
After this hint of humour on the off-line storage model of DNA data by Portable Genomics, I wanted to submit to Julia Reda’s wisdom the biz plan of Portable Genomics. Interview on November 24, 2017:
Patrick Merel: “Blockchain is just a data security and traceability technology that genomics will benefit from. Do not confuse Blockchain with crypto-currencies, something that the general public often does. Crypto-currencies use Blockchain. That said, we had already introduced our ‘for fun’ GeneGroove App, a technology for real anonymisation of genomic data, patent pending.”
Catherine Coste: “Real anonymisation? Is this a thing? American geneticists, however, claim the opposite. Genetic and anonymous seem rather antinomic.”
Patrick Merel: “Genomic data as published on open-access websites are simply unidentified, and indeed MIT has shown that we can go back to individuals and their addresses anyway. Our patent extracts the unique parts of our genome and encrypts them in a key that no longer allows to return to the complete genomic data, in order to be able to use your genomic data in public applications, without revealing yourself genetically.”
Just a reminder: please do not confuse complete sequencing of the genome (your DNA) and variant lists. When one is sequencing all of one’s genome, one obtains our DNA sequence and the list of identified differences (the list of variants). This list is obviously larger if you have your entire genome sequenced, than if you have your Exome sequenced, or just a part of our genome, as available via 23andMe and DNA Ancestry. There are some coding parts in your genes, since DNA is genetic data that is coding for proteins inside your body, but only part of your DNA is doing this job. This coding part of your DNA is called the Exome. Several companies in the US, but also in Belgium, offer partial genomic analyses, which target most genes known to be linked to the development of certain cancers, including BRCA1 / 2 (breast cancer). In France, hospitals offer these tests only to patients and people with a “cancer” family history. It takes 12 months to 24 months to access these tests and their results in France. This is obviously not the case elsewhere (USA, Singapore, Hong Kong, etc).
It is not that difficult to understand what China is doing right now — and Apple and Amazon: they are getting ready to offer the more expensive technical solutions. Storing the complete genome and all annotations in encrypted mode in a private cloud, with encryption and decryption keys (for storage and transit) that are multiple, and shared by different actors of the economic model (patient included) … Will Europe wait for this tsunami, doing nothing? China will soon have its own sequencing machines (if not already), even if it all started in the Middle Kingdom thanks to Illumina (made-in-US) sequencing machines. iCarbonX will have all the money needed (via Tencent) to buy Oxford Nanopore, an innovative genome sequencing company based in Oxford UK, or at least work with them, and Oxford Nanopore will probably overtake Illumina, at least that’s what some people say. But who can tell the future? I would like to avoid the technological sinking of Europe in terms of genetic data (privacy), which of course are linked to national security.
Hence my question for you, Julia Reda: do you think we should (and can) start in Europe right away with the expensive and ambitious solutions — store the complete genome and all annotations in encrypted mode in a private cloud, with encryption and decryption keys (for storage and transit) that are distinct and multiple? Or should we turn to some kind of low-hanging fruit, a more convenient and unexpensive model that would allow us to get started right away?
I continued my interview with the founder of Portable Genomics last night, asking him for a BRCA1 / 2 (breast cancer) scenario:
“A way to access genomic data for free, while monetising your own data for income.”
Patrick Merel: “To women who already have phenotype data, and who want to sell their data through our platform — the pharmaceutical industries might be willing to pay more than $10,000 for phenotype and genotype data — I will offer a genetic test, and together we will sell the data and share the revenue. For women who already have the phenotype + genotype data, we will share 50/50, and for those who only have the phenotype, I will offer a genetic test and we will share the income, 70/30.”
Catherine Coste: At this point I should probably clarify something. The phenotype data is the lifestyle and all data related to the individual’s physiology (including a diagnosis made by an oncologist). The genotype data is the result of DNA sequencing tests for an individual.
Patrick Merel: “With an economic model of data monetisation revenue sharing, it is possible to consider free distribution of this type of testing. Let me explain something: the BRCA1 / 2 data per se are not worth much. Lifestyle data, family history data, treatment data, combined with BRCA1 / 2 data, are of great scientific AND economic value, likely over $10,000 per dataset, on the pharmaceutical market. Patients who collect lifestyle data, family history data, medical treatment data and who are ready to monetise them with us via our platform: if we can sell them for $ 10,000 provided we add one BRCA1 / 2 test, and share income 50/50, then Portable Genomics could sponsor the BRCA1 / 2 test to women who do not have one. A way to access genomic data for free, while monetising your own data for income.
Should the A.I. actually take the power, the value of the data will be much greater than that of the test itself, therefore, I can give a test to the patient for free and then team up with the patient to resell the whole phenotype-genotype data to the AI and companies that need the data for their business.
Moreover, this situation is already true: the value of the data is greater than that of the test itself, that is to say that a genome is worth less than 600 dollars today (in China). Remember the $ 20,000 Genotype that 23andMe sold to Genentech in 2014?”
What do you think of Portable Genomics’ biz plan? Personally, I’m planning on having my genome sequenced — and medical interpretation — by Veritas Genetics, and I would like to see in Europe a minimally invasive medicine system, assisted by e-patients, enabling the latters to store and share and monetise their medical and DNA data.
Thank you for your time and attention :-)
N.B.: For the French version of this letter, see here.
Catherine Coste
MITx 7.00x, 7.QBWx, 7.28x1–2 certified, and European citizen
Member of the Walking Gallery of Health Care, founded by US activist Regina Holliday
