Your Genetic Data Is The New Oil. These Startups Will Pay to Rent It.
Perhaps you're one of the 12 million people who has spit into a tube in recent years to learn the secrets in your genetic code, like your ancestry, your health risks, or your carrier status for certain diseases. If you haven't participated in direct-to-consumer genetic testing, you may know someone who has.
It's for people who want more control over their genetic data--plus a share of the proceeds when and if that data is used.
Mountains of genomic data have been piling up steeply over the last several years, but according to some experts, not enough research and drug discovery is being done with the data collected, and customers rarely have a say in how their data is used. Now, a slew of ambitious startup companies are bringing together the best of blockchain technology and human genomics to help solve these problems.
But First, Why Is Your Genome So Valuable?
Access to genetic information is an obvious boon to scientific and medical progress. In the right hands, it has the potential to save lives and reduce suffering — by facilitating the development of better, safer, more targeted treatments and by shedding light on the role of genetics in countless diseases and medical conditions.
Research requiring access to direct-to-consumer (DTC) genomic data is already well underway. For example, 23andMe, the popular California-based DTC genetic testing company, has published 107 research articles so far, as of this May, using data from their five million-plus customers around the world. Their website states that, on average, of the 80 percent of their customers who have opted to share their genomic data for research purposes, each "individual contributes to 200 different research studies."
And this July, a new collaboration was announced between 23andMe and GlaxoSmithKline, the London-based pharmaceutical company. GlaxoSmithKline will be using data from 23andMe customers to develop new medical treatments, while 23andMe will receive $300 million from the four-year deal. Both companies are poised to profit significantly from their union.
Should 23andMe's customers share in the gains? Peter Pitts, president of the Center for Medicine in the Public Interest, believes they should. "Are they going to offer rebates to people who opt in, so their customers aren't paying for the privilege of 23andMe working with a for-profit company in a for-profit research project?" Pitts told NBC. So far, 23andMe has not announced any plans to share profits with their customers.
But outside of such major partnerships, many researchers are frustrated by the missed opportunities to dig deeper into the correlations between genetics and disease. That's because people's de-identified genomic information is "essentially lying fallow," siloed behind significant security blockades in the interest of preserving their anonymity. So how can both researchers and consumers come out ahead?
Putting Consumers Back in Control
For people who want more control over their genetic data -- plus a share of the proceeds when and if that data is used -- a few companies have paired consumer genomics with blockchain technology to form a new field called "blockchain genomics." Blockchain is a data storage technology that relies on a network of computers, or peer-to-peer setup, making it incredibly difficult to hack. "It's a closed loop of transactions that gets protected and encrypted, and it cannot be changed," says Tanya Woods, a blockchain thought leader and founder of Kind Village, a social impact technology platform.
The vision is to incentivize consumers to share their genomic data and empower researchers to make new breakthroughs.
"So if I agree to give you something and you agree to accept it, we make that exchange, and then that basic framework is captured in a block. … Anything that can be exchanged can be ledgered on blockchain. Anything. It could be real estate, it could be the transfer of artwork, it could be the purchase of a song or any digital content, it could be recognition of a certification," and so on.
The blockchain genomics companies' vision is to incentivize consumers to share their genomic data and empower researchers to make new breakthroughs, all while keeping the data secure and the identities of consumers anonymous.
Consumers, or "partners" as these companies call them, will have a direct say regarding which individuals or organizations can "rent" their data, and will be able to negotiate the amount they receive in exchange. But instead of fiat currency (aka "regular money") as payment, partners will either be remunerated in cryptocurrency unique to the specific company or they will be provided with individual shares of ownership in the database for contributing DNA data and other medical information.
Luna DNA, one of the blockchain genomics companies, "will allow any credible researcher or non-profit to access the databases for a nominal fee," says its president and co-founder, Dawn Barry. Luna DNA's infrastructure was designed to embrace certain conceptions of privacy and privacy law "in which individuals are in total control of their data, including the ability to have their data be 'forgotten' at any time," she said. This is nearly impossible to implement in pre-existing systems that were not designed with full control by the individual in mind.
One of the legal instruments to which Barry referred was the European Union's General Data Protection Regulation, which "states that the data collected on an individual is owned and should be controlled by that individual," she explained. Another is the California Privacy Act that echoes similar principles. "There is a global trend towards more control by the individual that has very deep implications to companies and sites that collect and aggregate data."
David Koepsell, CEO and co-founder of EncrypGen, told Forbes that "Most people are not aware that your DNA contains information about your life expectancy, your proclivity to depression or schizophrenia, your complete ethnic ancestry, your expected intelligence, maybe even your political inclinations" — information that could be misused by insurance companies and employers. And though DTC customers have been assured that their data will stay anonymous, some data can be linked back to consumers' identities. Blockchain may be the answer to these concerns.
Both blockchain technology and the DTC genetic testing arena have a glaring diversity problem.
"The security that's provided by blockchain is tremendous," Woods says. "It's a significant improvement … and as we move toward more digitized economies around the world, these kinds of solutions that are providing security, validity, trust — they're very important."
In the case of blockchain genomics companies like EncrypGen, Luna DNA, Longenesis, and Zenome, each partner who joins would bring a digital copy of their genetic readout from DTC testing companies (like 23andMe or AncestryDNA). The blockchain technology would then be used to record how and for what purposes researchers interact with it. (To learn more about blockchain, check out this helpful visual guide by Reuters.)
Obstacles in the Path to Success
The cryptocurrency approach as a method of payment could be an unattractive lure to consumers if only a limited number of people make transactions in a given currency's network. And the decade-old technology underlying it -- blockchain -- is not yet widely supported, or even well-understood, by the public at large.
"People conflate blockchain with cryptocurrency and bitcoin and all of the concerns and uncertainty thereof," Barry told us. "One can think of cryptocurrency as a single expression of the vast possibilities of the blockchain technology. Blockchain is straightforward in concept and arcane in its implementation."
But blockchain, with its Gini coefficient of 0.98, is one of the most unequal "playing fields" around. The Gini coefficient is a measure of economic inequality, where 0 represents perfect equality and 1 represents perfect inequality. Around 90 percent of bitcoin users, for example, are male, white or Asian, between the ages of 18 and 34, straight, and from middle and upper class families.
The DTC genetic testing arena, too, has a glaring diversity problem. Most DTC genetic test consumers, just like most genetic study participants, are of European descent. In the case of genetic studies, this disparity is largely explained by the fact that most research is done in Europe and North America. In addition to being over 85 percent white, individuals who purchase DTC genetic testing kits are highly educated (about half have more than a college degree), well off (43 percent have a household income of $100,000 or more per year), and are politically liberal (almost 65 percent). Only 14.5 percent of DTC genetic test consumers are non-white, and a mere 5 percent are Hispanic.
Since risk of genetic diseases often varies greatly between ethnic groups, results from DTC tests can be less accurate and less specific for those of non-European ancestry — simply due to a lack of diverse data. The bigger the genetic database, wrote Sarah Zhang for The Atlantic, the more insights 23andMe and other DTC companies "can glean from DNA. That, in turn, means the more [they] can tell customers about their ancestry and health…" Though efforts at recruiting non-white participants have been ongoing, and some successes have been made at improving ancestry tools for people of color, the benefits of genomic gathering in North America are still largely reaped by Caucasians.
So far, it's not yet clear who or how many people will choose to partake in the offerings of blockchain genomics companies.
So one chief hurdle for the blockchain genomics companies is getting the technology into the hands of those who are under-represented in both blockchain and genetic testing research. Women, in particular, may be difficult to bring on board the blockchain genomics bandwagon — though not from lack of interest. Although women make up a significant portion of DTC genetic testing customers (between 50 and 60 percent), their presence is lacking in blockchain and the biotech industry in general.
At the North American Bitcoin Conference in Miami earlier this year, only three women were on stage, compared to 84 men. And the after-party was held in a strip club.
"I was at that conference," Woods told us. "I don't know what happened at the strip club, I didn't observe it. That's not to say it didn't happen … but I enjoyed being at the conference and I enjoyed learning from people who are experimenting in the space and developing in it. Generally, would I have loved to see more women visible? Of course. In tech generally I want to see more women visible, but there's a whole ecosystem shifting that has to happen to make that possible."
Luna's goal is to achieve equal access to a technology (blockchain genomics) that could potentially improve health and quality of life for all involved. But in the merging of two fields that have been unequal since their inception, achieving equal access is one tall order indeed. So far, it's not yet clear who or how many people will choose to participate. LunaDNA's platform has not yet launched; EncrypGen released their beta version just last month.
Sharon Terry, president and CEO of Genetic Alliance — a nonprofit organization that advocates for access to quality genetic services — recently shared a message that reflects the zeitgeist for all those entering the blockchain genomics space: "Be authentic. Tell the truth, even about motives and profits. Be transparent. Engage us. Don't leave us out. Make this real collaboration. Be bold. Take risks. People are dying. It's time to march forward and make a difference."
New tech for prison reform spreads to 11 states
A new non-profit called Recidiviz is using data technology to reduce the size of the U.S. criminal justice system. The bi-coastal company (SF and NYC) is currently working with 11 states to improve their systems and, so far, has helped remove nearly 69,000 people — ones left floundering in jail or on parole when they should have been released.
“The root cause is fragmentation,” says Clementine Jacoby, 31, a software engineer who worked at Google before co-founding Recidiviz in 2019. In the 1970s and 80s, the U.S. built a series of disconnected data systems, and this patchwork is still being used by criminal justice authorities today. It requires parole officers to manually calculate release dates, leading to errors in many cases. “[They] have done everything they need to do to earn their release, but they're still stuck in the system,” Jacoby says.
Recidiviz has built a platform that connects the different databases, with the goal of identifying people who are already qualified for release but remain behind bars or on supervision. “Think of Recidiviz like Google Maps,” says Jacoby, who worked on Maps when she was at the tech giant. Google Maps takes in data from different sources – satellite images, street maps, local business data — and organizes it into one easy view. “Recidiviz does something similar with criminal justice data,” Jacoby explains, “making it easy to identify people eligible to come home or to move to less intensive levels of supervision.”
People like Jacoby’s uncle. His experience with incarceration is what inspired her passion for criminal justice reform in the first place.
The problems are vast
The U.S. has the highest incarceration rate in the world — 2 million people according to the watchdog group, Prison Policy Initiative — at a cost of $182 billion a year. The numbers could be a lot lower if not for an array of problems including inaccurate sentencing calculations, flawed algorithms and parole violations laws.
Sentencing miscalculations
To determine eligibility for release, the current system requires corrections officers to check 21 different requirements spread across five different databases for each of the 90 to 100 people under their supervision. These manual calculations are time prohibitive, says Jacoby, and fall victim to human error.
In addition, Recidiviz found that policies aimed at helping to reduce the prison population don’t always work correctly. A key example is time off for good behavior laws that allow inmates to earn one day off for every 30 days of good behavior. Some states' data systems are built to calculate time off as one day per month of good behavior, rather than per day. Over the course of a decade-long sentence, Jacoby says these miscalculations can lead to a huge discrepancy in the calculated release data and the actual release date.
Algorithms
Commercial algorithm-based software systems for risk assessment continue to be widely used in the criminal justice system, even though a 2018 study published in Science Advances exposed their limitations. After the study went viral, it took three years for the Justice Department to issue a report on their own flawed algorithms used to reduce the federal prison population as part of the 2018 First Step Act. The program, it was determined, overestimated the risk of putting inmates of color into early-release programs.
Despite its name, Recidiviz does not build these types of algorithms for predicting recidivism, or whether someone will commit another crime after being released from prison. Rather, Jacoby says the company’s "descriptive analytics” approach is specifically intended to weed out incarceration inequalities and avoid algorithmic pitfalls.
Parole violation laws
Research shows that 350,000 people a year — about a quarter of the total prison population — are sent back not because they’ve committed another crime, but because they’ve broken a specific rule of their probation. “Things that wouldn't send you or I to prison, but would send someone on parole,” such as crossing county lines or being in the presence of alcohol when they shouldn’t be, are inflating the prison population, says Jacoby.
It’s personal for the co-founder and CEO
“I grew up with an uncle who went into the prison system,” Jacoby says. At 19, he was sentenced to ten years in prison for a non-violent crime. A few months after being released from jail, he was sent back for a non-violent parole violation.
“For my family, the fact that one in four prison admissions are driven not by a crime but by someone who's broken a rule on probation and parole was really profound because that happened to my uncle,” Jacoby says. The experience led her to begin studying criminal justice in high school, then college. She continued her dive into how the criminal justice system works as part of her Passion Project while at Google, a program that allows employees to spend 20 percent of their time on pro-bono work. Two colleagues whose family members had also been stuck in the system joined her.
As part of the project, Jacoby interviewed hundreds of people involved in the criminal justice system. “Those on the right, those on the left, agreed that bad data was slowing down reform,” she says. Their research brought them to North Dakota where they began to understand the root of the problem. The corrections department is making “huge, consequential decisions every day [without] … the data,” Jacoby says. In a new video by Recidiviz not yet released, Jacoby recounts her exchange with the state’s director of corrections who told her, “‘It’s not that we have the data and we just don’t know how to make it public; we don’t have the information you think we have.'"
A mock-up (with fake data) of the types of dashboards and insights that Recidiviz provides to state governments.
Recidiviz
As a software engineer, Jacoby says the comment made no sense to her — until she witnessed it first-hand. “We spent a lot of time driving around in cars with corrections directors and parole officers watching them use these incredibly taxing, frankly terrible, old data systems,” Jacoby says.
As they weeded through thousands of files — some computerized, some on paper — they unearthed the consequences of bad data: Hundreds of people in prison well past their release date and thousands more whose release from parole was delayed because of minor paperwork issues. They found individuals stuck in parole because they hadn’t checked one last item off their eligibility list — like simply failing to provide their parole officer with a paystub. And, even when parolees advocated for themselves, the archaic system made it difficult for their parole officers to confirm their eligibility, so they remained in the system. Jacoby and her team also unpacked specific policies that drive racial disparities — such as fines and fees.
The Solution
It’s more than a trivial technical challenge to bring the incomplete, fragmented data onto a 21st century data platform. It takes months for Recidiviz to sift through a state’s information systems to connect databases “with the goal of tracking a person all the way through their journey and find out what’s working for 18- to 25-year-old men, what’s working for new mothers,” explains Jacoby in the video.
TED Talk: How bad data traps people in the U.S. justice system
TED Fellow Clementine Jacoby's TED Talk went live on Jan. 13. It describes how we can fix bad data in the criminal justice system, "bringing thousands of people home, reducing costs and improving public safety along the way."
Clementine Jacoby • TED2022
Ojmarrh Mitchell, an associate professor in the School of Criminology and Criminal Justice at Arizona State University, who is not involved with the company, says what Recidiviz is doing is “remarkable.” His perspective goes beyond academic analysis. In his pre-academic years, Mitchell was a probation officer, working within the framework of the “well known, but invisible” information sharing issues that plague criminal justice departments. The flexibility of Recidiviz’s approach is what makes it especially innovative, he says. “They identify the specific gaps in each jurisdiction and tailor a solution for that jurisdiction.”
On the downside, the process used by Recidiviz is “a bit opaque,” Mitchell says, with few details available on how Recidiviz designs its tools and tracks outcomes. By sharing more information about how its actions lead to progress in a given jurisdiction, Recidiviz could help reformers in other places figure out which programs have the best potential to work well.
The eleven states in which Recidiviz is working include California, Colorado, Maine, Michigan, Missouri, Pennsylvania and Tennessee. And a pilot program launched last year in Idaho, if scaled nationally, with could reduce the number of people in the criminal justice system by a quarter of a million people, Jacoby says. As part of the pilot, rather than relying on manual calculations, Recidiviz is equipping leaders and the probation officers with actionable information with a few clicks of an app that Recidiviz built.
Mitchell is disappointed that there’s even the need for Recidiviz. “This is a problem that government agencies have a responsibility to address,” he says. “But they haven’t.” For one company to come along and fill such a large gap is “remarkable.”
How Leqembi became the biggest news in Alzheimer’s disease in 40 years, and what comes next
A few months ago, Betsy Groves traveled less than a mile from her home in Cambridge, Mass. to give a talk to a bunch of scientists. The scientists, who worked for the pharmaceutical companies Biogen and Eisai, wanted to know how she lived her life, how she thought about her future, and what it was like when a doctor’s appointment in 2021 gave her the worst possible news. Groves, 73, has Alzheimer’s disease. She caught it early, through a lumbar puncture that showed evidence of amyloid, an Alzheimer’s hallmark, in her cerebrospinal fluid. As a way of dealing with her diagnosis, she joined the Alzheimer’s Association’s National Early-Stage Advisory Board, which helped her shift into seeing her diagnosis as something she could use to help others.
After her talk, Groves stayed for lunch with the scientists, who were eager to put a face to their work. Biogen and Eisai were about to release the first drug to successfully combat Alzheimer’s in 40 years of experimental disaster. Their drug, which is known by the scientific name lecanemab and the marketing name Leqembi, was granted accelerated approval by the U.S. Food and Drug Administration last Friday, Jan. 6, after a study in 1,800 people showed that it reduced cognitive decline by 27 percent over 18 months.
It is no exaggeration to say that this result is a huge deal. The field of Alzheimer’s drug development has been absolutely littered with failures. Almost everything researchers have tried has tanked in clinical trials. “Most of the things that we've done have proven not to be effective, and it's not because we haven’t been taking a ton of shots at goal,” says Anton Porsteinsson, director of the University of Rochester Alzheimer's Disease Care, Research, and Education Program, who worked on the lecanemab trial. “I think it's fair to say you don't survive in this field unless you're an eternal optimist.”
As far back as 1984, a cure looked like it was within reach: Scientists discovered that the sticky plaques that develop in the brains of those who have Alzheimer’s are made up of a protein fragment called beta-amyloid. Buildup of beta-amyloid seemed to be sufficient to disrupt communication between, and eventually kill, memory cells. If that was true, then the cure should be straightforward: Stop the buildup of beta-amyloid; stop the Alzheimer’s disease.
It wasn’t so simple. Over the next 38 years, hundreds of drugs designed either to interfere with the production of abnormal amyloid or to clear it from the brain flamed out in trials. It got so bad that neuroscience drug divisions at major pharmaceutical companies (AstraZeneca, Pfizer, Bristol-Myers, GSK, Amgen) closed one by one, leaving the field to smaller, scrappier companies, like Cambridge-based Biogen and Tokyo-based Eisai. Some scientists began to dismiss the amyloid hypothesis altogether: If this protein fragment was so important to the disease, why didn’t ridding the brain of it do anything for patients? There was another abnormal protein that showed up in the brains of Alzheimer’s patients, called tau. Some researchers defected to the tau camp, or came to believe the proteins caused damage in combination.
The situation came to a head in 2021, when the FDA granted provisional approval to a drug called aducanumab, marketed as Aduhelm, against the advice of its own advisory council. The approval was based on proof that Aduhelm reduced beta-amyloid in the brain, even though one research trial showed it had no effect on people’s symptoms or daily life. Aduhelm could also cause serious side effects, like brain swelling and amyloid related imaging abnormalities (known as ARIA, these are basically micro-bleeds that appear on MRI scans). Without a clear benefit to memory loss that would make these risks worth it, Medicare refused to pay for Aduhelm among the general population. Two congressional committees launched an investigation into the drug’s approval, citing corporate greed, lapses in protocol, and an unjustifiably high price. (Aduhelm was also produced by the pharmaceutical company Biogen.)
To be clear, Leqembi is not the cure Alzheimer’s researchers hope for. While the drug is the first to show clear signs of a clinical benefit, the scientific establishment is split on how much of a difference Leqembi will make in the real world.
So far, Leqembi is like Aduhelm in that it has been given accelerated approval only for its ability to remove amyloid from the brain. Both are monoclonal antibodies that direct the immune system to attack and clear dysfunctional beta-amyloid. The difference is that, while that’s all Aduhelm was ever shown to do, Leqembi’s makers have already asked the FDA to give it full approval – a decision that would increase the likelihood that Medicare will cover it – based on data that show it also improves Alzheimer’s sufferer’s lives. Leqembi targets a different type of amyloid, a soluble version called “protofibrils,” and that appears to change the effect. “It can give individuals and their families three, six months longer to be participating in daily life and living independently,” says Claire Sexton, PhD, senior director of scientific programs & outreach for the Alzheimer's Association. “These types of changes matter for individuals and for their families.”
To be clear, Leqembi is not the cure Alzheimer’s researchers hope for. It does not halt or reverse the disease, and people do not get better. While the drug is the first to show clear signs of a clinical benefit, the scientific establishment is split on how much of a difference Leqembi will make in the real world. It has “a rather small effect,” wrote NIH Alzheimer’s researcher Madhav Thambisetty, MD, PhD, in an email to Leaps.org. “It is unclear how meaningful this difference will be to patients, and it is unlikely that this level of difference will be obvious to a patient (or their caregivers).” Another issue is cost: Leqembi will become available to patients later this month, but Eisai is setting the price at $26,500 per year, meaning that very few patients will be able to afford it unless Medicare chooses to reimburse them for it.
The same side effects that plagued Aduhelm are common in Leqembi treatment as well. In many patients, amyloid doesn’t just accumulate around neurons, it also forms deposits in the walls of blood vessels. Blood vessels that are shot through with amyloid are more brittle. If you infuse a drug that targets amyloid, brittle blood vessels in the brain can develop leakage that results in swelling or bleeds. Most of these come with no symptoms, and are only seen during testing, which is why they are called “imaging abnormalities.” But in situations where patients have multiple diseases or are prescribed incompatible drugs, they can be serious enough to cause death. The three deaths reported from Leqembi treatment (so far) are enough to make Thambisetty wonder “how well the drug may be tolerated in real world clinical practice where patients are likely to be sicker and have multiple other medical conditions in contrast to carefully selected patients in clinical trials.”
Porsteinsson believes that earlier detection of Alzheimer’s disease will be the next great advance in treatment, a more important step forward than Leqembi’s approval.
Still, there are reasons to be excited. A successful Alzheimer’s drug can pave the way for combination studies, in which patients try a known effective drug alongside newer, more experimental ones; or preventative studies, which take place years before symptoms occur. It also represents enormous strides in researchers’ understanding of the disease. For example, drug dosages have increased massively—in some cases quadrupling—from the early days of Alzheimer’s research. And patient selection for studies has changed drastically as well. Doctors now know that you’ve got to catch the disease early, through PET-scans or CSF tests for amyloid, if you want any chance of changing its course.
Porsteinsson believes that earlier detection of Alzheimer’s disease will be the next great advance in treatment, a more important step forward than Leqembi’s approval. His lab already uses blood tests for different types of amyloid, for different types of tau, and for measures of neuroinflammation, neural damage, and synaptic health, but commercially available versions from companies like C2N, Quest, and Fuji Rebio are likely to hit the market in the next couple of years. “[They are] going to transform the diagnosis of Alzheimer's disease,” Porsteinsson says. “If someone is experiencing memory problems, their physicians will be able to order a blood test that will tell us if this is the result of changes in your brain due to Alzheimer's disease. It will ultimately make it much easier to identify people at a very early stage of the disease, where they are most likely to benefit from treatment.”
Learn more about new blood tests to detect Alzheimer's
Early detection can help patients for more philosophical reasons as well. Betsy Groves credits finding her Alzheimer’s early with giving her the space to understand and process the changes that were happening to her before they got so bad that she couldn’t. She has been able to update her legal documents and, through her role on the Advisory Group, help the Alzheimer’s Association with developing its programs and support services for people in the early stages of the disease. She still drives, and because she and her husband love to travel, they are hoping to get out of grey, rainy Cambridge and off to Texas or Arizona this spring.
Because her Alzheimer’s disease involves amyloid deposits (a “substantial portion” do not, says Claire Sexton, which is an additional complication for research), and has not yet reached an advanced stage, Groves may be a good candidate to try Leqembi. She says she’d welcome the opportunity to take it. If she can get access, Groves hopes the drug will give her more days to be fully functioning with her husband, daughters, and three grandchildren. Mostly, she avoids thinking about what the latter stages of Alzheimer’s might be like, but she knows the time will come when it will be her reality. “So whatever lecanemab can do to extend my more productive ways of engaging with relationships in the world,” she says. “I'll take that in a minute.”