The Unknown 9% of the Human Genome
This is episode 6 of The French Tech Comedy.
(Read Episode 1, 2, 3, 4 and 5)
Nono was now spending more time in China than he was at Taka’s lab in Tokyo. He was missing the made-in-Japan Nono-fandom, but only for short. Before he knew it, he was involved in a relationship. The girl seemed to have everything: young, rich, brilliant. Her dad had wanted her to work in consulting, in the family-owned company that had now become a Beijing-based conglomerate. But Juan was pursuing a career as a biomedical engineer. Computing and health care were her two passions in life, and there was no way she was going to choose between both. She was still chuckling at this quote from a friend working in the pharmaceutical industry. “I work for a law firm that occasionally invents a new medicine.” She didn’t want to do that. Instead, she was working for Tencent, spotting startups in Beijing that could help implement cutting-edge medicine solutions to be sold as e-commerce products by Tencent. She was keeping an eye on brands (premium and luxury brands) as the way top brands were marketed in China was 10 years ahead of everything and everybody else. The Mecca for worldwide e-commerce. Dior or cancer, Juan saw no difference. Both needed technological breakthroughs, outstanding story-telling skills and cutting-edge e-commerce or marketing. A.I. and engineering were everywhere. Doctoring, food, luxury brands, transportation, real estate were just the same thing, as far as she was concerned. She was working hard and spending a lot of money, and ambitious boys wanted to make her spend even more money. One day she heard Nono’s pitch, a rather unusual one. He was using game videos to pitch investors, making a total mockery of all the players in the health tech industry, but there was something groundbreaking about it. On that day, the video game he was demoing was about an A.I. exploring 9% of the human genome, and making new drugs thanks to the new knowledge. Nine. There was something special about that number. It was the part of the human genome that nobody had been able to explore, sequence, discover, explain. The Human Genome Project had been sequencing 91% of the human DNA; not 100%. Nono’s A.I., in a virtual game, was exploring the rest. “Game over” meant you had covered 100% of the human genome for real. Juan decided she would spend some time with Nono. There was something about this boy. He was genuinely free. Seeming to enjoy every minute of his life, connecting things and people. An innate serial problem solver. So far, Juan had always believed nobody was born a problem-solver. If you worked hard enough, you could hope to become one, acquire this talent. Sweat, hard work, time. Nono was shattering everything. To him, it was as natural as breathing. Juan’s father had decided to fund Nono’s gaming startup. But it would have to stay in China, and work with Chinese e-commerce partners. In an unexpected way, he was now pitching Ba and his colleagues and competitors, as Tencent had asked him to look into some marketing options for mobile health and direct-to-consumer genetics.
“ — A well-organised, highly curated database of genetic data from millions of people is a potential goldmine for drug company researchers and other scientists. In 2015, the drug company Genentech agreed to pay 23andMe as much as $60 million for access to its particular goldmine. 23andMe also has research arrangements with Pfizer and other pharmaceutical companies, and its in-house research team is combing through the data for insights into cancer, skin disease, heart disease, and other conditions. But that’s not the only business model for direct-to-consumer genetics,” said Nono. He turned to his laptop. French biologist Mougin, founder of the startup Gene-i-us, was ready for his presentation.
“ — Maybe your DNA is worth more to science than it is to you. In fact, maybe you should get paid for it!” Mougin was indeed suggesting people should get paid in exchange of their DNA data! He explained:
“ — The demand by researchers for large, well-curated databases of genetic and health information, set up with proper permissions for studies, is growing. Drug companies may spend years and millions of dollars to find the right people for studies of highly targeted drugs; consumer DNA databases offer a possible shortcut. Besides 23andMe’s deal with Genentech, Ancestry.com did a deal with the Google health spinout Calico. There are many other examples.”
He concluded:
“ — At the end of the day, your exome (the coding part of your DNA, making proteins) is worth $20,000.”
Then, he explained his business plan:
“ — In a pilot project, Gene-i-us plans to arrange for gut and lung microbiome analysis, and ultimately exome sequencing, of people with cystic fibrosis. It plans to provide apps for the volunteers to collect granular data about symptoms, lifestyle, behavior, and treatments. Each participant controls his or her own data, and will be compensated when it’s used in a study by a for-profit entity. A drug company, eager to scour the genomes of people with extremely unusual conditions might be willing to pay $5,000 to $20,000 per person, which would be split among my company, the nonprofit, and the volunteer.”
“ — Everybody’s looking to boost the numbers of people willing to be sequenced because big numbers will accelerate the pace of genetics-based research. The fastest and most ethical way to do it is to give the data donors a cut of the revenue,” he argued. And the take-home message of Mougin’s presentation:
“ — Everyone in the chain is making money on the back of the patients. If personalized medicine is to succeed, it needs to have the patient at the core of strategy, including the business model. Otherwise it will fail.”
Nono and Mougin engaged in a fireside chat about the free model:
“ — Like Facebook or Instagram, genomics companies could give away the basic service for free — in this case DNA sequencing — and make money by anonymising, aggregating, and organising the data for other users who find it valuable.”
“ — The free model works!” said Mougin. “There’s no reason why personal data, including genomics, can’t be the same.”
The French biologist was also trying to work with Google, to help them find the right ad business model that would enable direct-to-consumer genetics to start getting legs, as for now, it was only a niche market. Also, he was trying to sell a couple of patents to Apple, regarding the technical ability to browse genomic data on iTunes for the client or consumer — an iPhone-only patent, for privacy and security reasons, using Apple cloud. You can see the importance of the own-your-data mantra for Apple…
“ — For years, we’ve been hearing that hordes of regular Americans will begin getting their genomes sequenced to learn about themselves, their families, and their health — and just for fun. But even though sequencing companies have pushed the price for a fully sequenced and interpreted genome down below $1,000, that wave of mainstream customers has not materialised,” said Mougin.
Somebody at Tencent interrupted the session.
“ — We found this interesting video on QQ.”
A stunningly beautiful young lady was speaking about direct to consumer genetics. She was saying that in her opinion, and though she was not an expert, anonymised genomic data was as real as a unicorn. Some kind of a politically correct wishful thinking thing.
“ — DNA analysis is still a niche market — or really, a cluster of niches: people with diseases who need answers, genealogy buffs, quantified-selfers and other aficionados. For most people, there still isn’t all that much you can do with your sequence. In the United States, only about 10 million people have had their genomes analysed so far. That includes a range of services, including 23andMe’s genotyping, which scans a limited number of genes; whole exome sequencing is the technical name for the analysis of all your genes; and whole genome sequencing, which decodes every bit of DNA — not only your genes but also the portions of your genetic code that help regulate the activity or expression of your genes.” (1)
The lady carried on:
“ — Personally, I’m only interested in whole genome sequencing. Now, imagine we only have sequenced 91% of our whole genome. There’s still this 9% we know nothing about. And that’s only sequencing I’m talking about, right? We haven’t done much in the way of matching our genome with our medical profile so far… There’s so much that remains to be done!… Maybe people are just waiting for the cloud they will store their DNA in to be secure — I would guess this is quite not the case today — and then there is the unknown 9% of the human genome. So I don’t think the ownership of data by the patient is key to developing precision medicine. I think people are waiting for a private cloud in which they can store their data. A private cloud that is perfectly secure, for real, 100% operational. Can we engineer this? Because this is what we really need… So my request here is: give us — or rather sell us — this cloud.
I mean, people will want to have a choice, but between alternatives that really work. The ability to de-anonymise data (medical, genomic, personal, professional) is becoming stronger, thanks to big data. It is becoming increasingly difficult to really anonymise data. So even if I am willing to donate my data, there is no guarantee that it will not backfire one day. I would not like my generosity to be detrimental to me in any way. So this one alternative, that could be really useful for preventative medicine, does not actually work today. How about the other alternative? I own my own data? Less useful for preventative medicine, or population genomics, I will grant you that. Does this operational and functional private cloud really exist today? Is it scalable? Of course, I’m ready to pay for it. But this option is not available. Not yet… One thing I know for sure: people will want to have a choice between paying and being in control of the data, or not paying, and letting someone else in charge of the data (control, mining, storage). But in the second case, let’s say you find this person has an elevated risk of karoshi (death by overwork). I’m almost certain this person would not want you to tell her or his employer, or insurer about this. Instead, the person might want to know… So it seems to me we are kind of lost between two worlds here…”
With her white kimono, she was looking like some kind of a Princess Lea, asking some unknown Jedi for help…
“ — Is she in a cosplay?,” asked someone.
“ — She’s a geisha,” answered Nono. “ — Her name is Yuki.”
It seemed like Yuki was carrying on with her video broadcasting project, even without Nono’s assistance.
“ — What’s the title of this video?”
“ — A Geisha lost between two worlds, episode 19.”
“ — … ?!”
“ — We welcome every culture,” said somebody with Tencent.
Two evenings later, on Saturday night, Nono was having dinner with Juan in Shanghai. It was a more formal restaurant; not Juan’s usual choice. They were now sitting in this upscale restaurant where the young woman wanted to celebrate the six-month anniversary of their relationship. For Nono, it had been more of an on-and-off thing than anything else, since he was between Taka’s lab in Japan and his startup in China. An engineer lost between two worlds? Nono was not lost; he was young, and he wanted to enjoy life and work. He liked his fan club of partying kawaii girls in Tokyo, he liked Yuki, her beauty and intelligence. He liked the opportunities and the people in China. There was no way he could choose between Japan and China, between two (or more) women. “Who’s asking you to choose between your right foot and your left foot?,” he thought.
“ — I want you to stay in China and marry me,” said Juan.
(1) The information for this episode was provided by this outstanding article, by reporter Kat McGowan: “How Much Is Your DNA Worth?” (Neo.life, September 15, 2017)
Catherine Coste,
MITx 7.00x, 7.QBWx, 7.28x1–2 certified
Member of the Walking Gallery of Health Care, founded by US activist Regina Holliday
