In-Depth: Consumer genomics and the road to legitimacy

By Heather Mack
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More than a decade ago, when most people were still using not-so-smart mobile phones, the first human genome was sequenced. It cost $3 billion. In the time it took for smartphones to become the essential consumer technology, DNA sequencing rapidly evolved from a costly, uncommonly used process into a quick, reliable, relatively cheap and widely used predictive tool to give insight on disease risk and personalized treatment.

Today, DNA sequencing – largely carried out by San Diego-based Illumina – has since become a critical part of healthcare technology. It is used to develop targeted drugs and therapies, has spawned countless research collaborations and notable investments like President Obama’s Precision Medicine Initiative, and led to the creation of direct to consumer genetic testing kits offering insight on ancestry and snippets of health information. 

But as consumer-focused digital health tools have evolved, those delivering the whole of what genomics have to offer have only recently started to materialize. According to Rock Health, genomics and sequencing shot into the top six categories in digital health funding the first time this year, accounting for $274 million by the third quarter.

Consumer genomics at an turning point

Justin Kao, co-founder and SVP business development and partnership at genetic testing startup Helix, said the industry has reached a time of significant change.

“The consumer genomics industry is reaching an inflection point—sequencing and data storage costs are declining, our understanding of the genome is exponentially growing, and consumer interest continues to increase as well. We believe that these factors will drive enormous growth in the industry,” Kao said in an email to MobiHealthNews.

His company is working on a platform to collaborate with multiple partners, aiming to become a central hub for all things related to DNA sequencing.

“By developing a platform that enables companies of all shapes and sizes to develop novel and innovative applications powered by genomics, we also believe that innovation in genomics will take off. We have seen explosions in innovation on other platforms, such as mobile and cloud, when a hardware problem becomes a software problem,” he wrote. “We’re trying to bring that same disruption to genomics, so that any developer can incorporate personal genomic insights into their product to deliver a richer consumer experience.”

While the FDA still isn’t going easy on direct to consumer testing companies (and has actively called out several who are offering and marketing testing and interpretive analysis without submitting premarket review) that has stopped a new generation of companies from trying.

The buildup to current consumer genomics companies

Recently, we’ve seen a new breed of companies creeping into the consumer genomics space doing one of two things: offering tests that go through third party labs so the company can then offer lifestyle coaching on everything from nutrition to what exercise they can do, or building a new service based on next-generation sequencing. But how ready is it for the consumer market?

Dr. Eric Topol, a geneticist and cardiologist at Scripps Translational Science Institute said the current consumer genomics landscape is a mix of trusted, reliable data and practices as well as prematurely deployed market offerings based on weak science.

“There’s a big, I guess, divergence of companies that are peddling things that have no evidence basis – like nutrigenomics, weight management, sports genomics, all kinds of things, and on the other hand, lots of hard, impressive data for drug DNA interactions and risks of major diseases,” Topol told MobiHealthNews in an interview. “So there is data that is terrific and continues to be evolving, but its not widely commercialized, and then there’s these very questionable entities selling data services that have no basis.”

While companies have definitely come under fire from the FDA, that doesn’t mean the agency can prevent companies that aren’t making any actual health claims from entering the market.

“Just like a lot of things in our world and in America, like supplements, they are not regulated,” Topol said. “As long as they don’t make medical claims, they can sell whatever they want. A lot of people buy this stuff and its really unfortunate. It’s basically taking advantage of people who don’t know better.”
 
Of course, Topol thinks the FDA has a much larger role to play than just saying no.

“There are lot of things that are marketed to the public – tests and supplements and all sorts of devices. I wish this stuff could get fixed,” he said. “I wish the FDA and Consumer Reports and other public citizen watchdog agencies could provide this honest, objective recording and advise the public, but unfortunately, it isn’t being done.”

He also thinks the FDA should work with reputable consumer genomics companies to allow them to deliver more health information.

While products like 23andMe’s saliva-testing kit paved the way for consumer genomics by getting people curious about their ancestry and their health, the FDA decreed such companies could only give limited health information without going through a clinician. In 2013, the company was ordered to immediately stop selling its testing service. In a public letter, the FDA made it clear that they would require clearance for each of the myriad genetic tests 23andMe performed on each partially sequenced genome, which created a serious impediment to 23andMe’s approach. 

The company stopped selling the home testing kits, save a version that would return ancestry information only. After that, 23andMe began selling the service in the UK, while declaring its intention to comply with FDA regulations stateside. They submitted a clearance request for their DNA test for Bloom Syndrome. That test was finally approved in February 2015 as a de novo clearance, meaning the FDA didn’t consider any predicate device to exist. As the company awaited clearance, they raised $79 million to shift focus on research and drug development, and began selling a new test in the US again in October 2015. At the time of the relaunch, 23andMe branded the new offering as better than before, but it doesn’t offer all the same level of disease risk analysis as the first.

“I think they were actually making a nice contribution: giving people not only drug-DNA interactions, and recessive allele but many disease risks,” Topol said. “I think it’s unfortunate that that was taken down by the FDA and they have not brought all of it back.”

23andMe currently offers genotyping, which examines a set of points on the genome to learn ancestry, relationships and some health risks. Though the company began working on efforts to develop exome, or next-generation sequencing, which offers a much larger information to the consumer, it abandoned that plan in October and said it will instead focus on its current offerings.

“Everything we do at 23andMe is in hopes of supporting our customers today and tomorrow, by driving scientific research and furthering the study of genomics in a variety of ways. In addition to our consumer product, we also have our therapeutics team, which is working to help transform the way we discover and develop novel therapies,” a 23andMe spokesperson told MobiHealthNews in an email.

The company wouldn’t comment specifically on what they have planned for the next few months or year, but emphasized the still-nascent factor of consumer genomics.

“By starting with genetic information and understanding the basics of disease, we hope we can make discoveries that will have a meaningful impact on society at large, much beyond our customer-base,” the spokesperson said. “We aim to be a trusted source as understanding of human genetics evolves—we will definitely know more about genetics tomorrow than we do today.”

Another leader in the “omics” space is San Francisco-based uBiome, which makes a direct-to-consumer microbial genomic testing kit. The company recently beefed up their repertoire by adding a new DNA- sequencing-based screening test called SmartGut to their offering.

With an at-home collection kit, SmartGut aims to give individuals and their doctors access to a comprehensive screening test to weed out important microorganisms (which can only be detected through DNA sequencing) that could be causing health distress. The test, which is not yet available, requires users to swab a tiny amount of fecal matter with a cotton swab, and the material is sent directly to the UBiome laboratory for sequencing. Once the results are back, SmartGut will give users actionable information about their gut microbiome to share with their doctors.

Topol pointed to companies like uBiome and 23andMe as standouts for their clinical validation and peer-reviewed work, and said all companies getting into the space should put out evidence-based data supporting their work.

“We don’t see that when you are peddling things like what food you should eat and what sports you should be doing. There’s a whole spectrum, and you like to educate the public while giving them information that’s at least worthy,” he said. “I’m aware of companies that have done very good work, but as far as the ones that are food and athletics, and one that just came out about what wine you should drink? I mean it’s just absurd.”

Topol didn’t name names, but one such company has been on our radar. Vinome, a Northern California-based wine delivery service that will be teaming up with Helix, is packaging a service that offers people wine personalized to their DNA. While there is a dearth of science to back up whether such a specific pairing could be made, the company is more focused on giving consumers a fun experience. Vinome soft-launched earlier this year and has already shipped some 300 bottles of wine to customers, according to Stat News

Vinome starts by asking customers their taste preferences, and then looks at variants in their genes on taste receptors  (gleaned from the results of a saliva DNA testing kit). Given that there is only a small amount of research suggesting that certain genes are equated with certain tastes, Vinome set out to do their own research by analyzing genetic variants in 500 people, who then did taste tests. It was then that Helix got interested.

“Helix understands that there are no genetic studies that show genetic polymorphisms related to individual wines,” Dr. James Lu, Helix’s senior vice president of applied genomics said in a statement to Stat News, saying Helix is, “excited to partner with Vinome because of their novel, fun and modern approach to building a wine recommendation algorithm.”

The important thing with offerings like these is for consumers to understand the state of genomics understanding. Another recent report by Rock Health exploring the implications for healthcare said the more consumers are brought into genomics research, the better, because the field needs all the data it can get.

“One of the primary aims of genomics is to generate personalized and actionable insights that lead to better health,” the report stated. “Because much work is still needed to understand how genes influence and interact with a person’s health, scientists need greater amounts of diverse genetic and phenotypic data (e.g. personal health information) and unfettered access to those linked data sources.”

This can be achieved by building awareness around the field of genomics, creating better consumer products and devising more relevant consumer use cases, the report said.

“Genetic data in the ecosystem increases when consumers buy direct-to-consumer genomics products, opt in at the physician’s office to get a genetic test, or participate in clinical research trials. The genomics industry can and should encourage participation at these touch points.”

Expanding the range of consumer genetic tests

While 23andMe is still the leader in consumer genomics, that doesn’t mean other digital health companies are too intimidated to miss out on the estimated $2 to $7 billion market, and others are now stepping in to deliver that next-generation sequencing.

Personal genomics startup Helix, which we mentioned is developing a digital hub for all things related to DNA testing ranging from direct-to-consumer to doctor-ordered, announced a slew of notable partnerships: the Icahn School of Medicine at Mount Sinai, National Geographic and a startup called ExploraGen. All will collaborate to deploy Helix’s Illuminia-powered genetic testing-service. The company also partnered with genetic information company Invitae.

Helix aims to offer an approachable platform for people who order DNA tests from multiple organizations – National Geographic’s popular ancestry product, Gene 2.0 Next Generation will launch on the Helix platform in November. Helix will send the saliva swab kits, sequence their DNA and store data in the cloud, and National Geographic will look for the ancestry markers in the DNA. Additonally, innovation company Exploragen is working on a number of applications that match DNA and the science of taste to create personalized “epicurean experiences,” according to the company. (The first offering will be Vinome).

Helix’s test will offer advanced exome sequencing, which looks at the part of the genome that encodes genes, which other direct-to-consumer tests have not offered. With all the partnerships, however, it hasn’t been decided how exactly consumers will pay for the centralized digital platform to access their genetic interpretations (aside from the National Geographic test, which runs $149).
Rather than focus on building one singular app at this time, Helix aims to be the facilitator for others to create new consumer genomics products.

“By handling the lab processes, ecommerce, sample collection, data storage, and associated logistics and operations, we’re enabling our partners to focus on what they’re best at—developing innovative software and applications for consumers,” wrote Helix co-founder Kao in his email to MobiHealthNews. “With this model, partners (large, trusted companies or lesser-known indie developers) will be able to develop DNA-powered applications that previously would have been impractical due to the associated fixed costs.”

Kao envisions the future of genomics will become as “a software problem, not a hardware or chemistry problem,” that will also be increasingly more affordable to consumers.

“In fact, developers don’t need to ever understand the complexity of sequencing itself because that’s what Helix spends all of its time on,” he wrote. “On the Helix platform, we anticipate that there will be DNA-powered applications available for less than $20.”

The partnership with the Icahn School of Medicine at Mount Sinai marks the company’s entrée into healthcare in ways that put it on a new level unlike competitors like 23andMe. The first Mount Sinai application on the Helix platform will be only be available with a clinician’s approval, and will allow prospective parents to learn about their risks of potentially passing on certain inheritable genetic disorders to their children. Additionally, genetic counseling will be offered.

“There is definitely an awareness of where all of this is going – consumer genomics is one of the next frontiers,” Dr. Yvonne Chan, director of digital health and personalized medicine at Icahn told MobiHealthNews in an interview. “There’s one thing about practicing clinical care, but really using digital technology to reach the masses is something that is really awesome.”

 Chan explained how the partnership with Helix will enable Mount Sinai to offer a whole genetic sequencing and counseling experience to a much wider range of people.

“We recognize there is a subset of the population that is not being served,” Chan said. “They might be interested in learning about genomics, divining some insights with the absolute medical need or urgent applications. With the Helix partnership, we can launch, on their main platform, a product that will be all-inclusive and offer everything genetic counseling has to offer, and by expanding this to more people, we will learn more about what patients want to hear, how they need to hear it."

While the Icahn-Helix partnership will have the benefit of genetic counseling, one of the hitches in expanding consumer genomics is the relative dearth of qualified experts to talk with patients.

“There is a relative lack of genetic counselors for this essentially booming new area,” Chan said. “This is where I really embrace digital health and advocate where it could really help fill that void. Any time there is a real supply and demand for a resource like genetic counselors, we could start looking at things like telemedicine and unlocking workforces that would not be available and also automating more mundane processes so we can leave the human touch in place.”

Chan embraces the enthusiasm over consumer genomics, but tempered that by acknowledging the field is ripe for misuse or misinformation.

“Think of it this way. I recently became addicted to Twitter. You are just bombarded with a whole spectrum from truly reliable information to garbage,” she said. “And there’s that same spectrum on what we call the strength of scientific evidence. There are some that have been truly studied, replicated and trusted, and those that are just hearsay.”

Another issue with all that genetic information is what to do with it, Topol said. As consumer genomics matures, it will be critical to develop the right tools and programs to make all that data actually usable on a daily basis.

“No human being, no doctor could ever process all that data. It’s speeding continuously, and it’s perfect for machines to do, and I think that is where you’ll see this thing take off in a really big way,” he said. “If you’ve ever used a virtual assistant, it takes getting used to, but then you realize, oh my gosh, this is actually pretty remarkable and its just scratching the surface of where it’s going to go, especially when you talk about each person’s health and medical side of life. That’s why you have computing. Good algorithmic software processing preempts TMI.”

Speaking of knowing more: another company looking to give consumers even more information about their DNA is Boston-based Veritas. While entire gene sequencing is normally only done in clinical setting for specific conditions, Veritas wants to democratize the entire gene sequencing experience to anyone and everyoneThe company recently announced the availability of myGenome a $999 service that includes whole genome sequencing, interpretation and pre- and post-test genetic counseling. Consumers can use an app to explore their results. 

The company initially launched last year with a $199 test to identify specific gene mutations, then expanded to a $299, 26-gene test in January that could assess certain genes associated with a heightened predisposition to certain cancers. But myGenome tops all of that by offering the whole sequencing, plus on-demand video counseling, and the company believes the $999 tag is the price point that will drive mainstream adoption of the technology. 

Consumer genomics tackles wellness

Using a genetic sequencing test as a jumping-off point, several so-called wellness companies have risen up to offer what others aren’t quite yet: actionable insight, albeit based on some very basic genetic data and offering no medical claims.

In September, Seattle-based Arivale began selling a saliva kit and companion app to create tailored plans they bill as the “scientific path to wellness.” Arivale offers people a package that includes a Fitbit, collection containers for saliva, urine, cheek swabs, and a prescribed order of blood tests to do on their own time, plus a companion app. Users download the app and complete an online assessment to share goals, health history and lifestyle, stress levels, personality and happiness. Once the data results are in (analyzed by independent, external clinical partner, LabCorp) users are paired with an Arivale coach. The goal is to create a personalized data cloud for each user based on their genetics, clinical lab results, gut microbiome, sleep and activity level.

While individuals are forking over quite a bit of themselves, Arivale isn’t looking for information on any sort of diseases or disorders, and they aren’t offering up anything as involved as genetic counseling, although that is a long-term goal.
Toronto-based Newtopia offers a health management and coaching plan based on genetic testing and behavioral science.
Through testing, personalized coaching, and a connected scale and activity tracker with a companion app, Newtopia’s goal is to reduce preventable, chronic diseases like obesity, type 2 diabetes, heart disease and stroke. The platform works in four steps: Employees complete an online profile to assess their current health and lifestyle choices, then mail in a saliva sample, and, once the genetic test results are in, they are matched with a personal coach. Together, they then work to take actionable steps towards better health.

Habit, a personalized nutrition startup backed by $32 million from Campbell’s Soup, announced plans in October to launch in 2017. Consumers will form a new Habit when they purchase a test kit and collect data about their genetics, their vitals, and their metabolism, which is sent to a lab. They also input data about their health goals. Then the company uses that data and machine learning algorithms to determine the user’s ideal diet. The user receives online guidance from a diet coach and specially-prepared meals delivered to their door. The company will also have an app that allows users to track progress and connect with one another socially.

”Look around you. We are all different shapes, sizes, ages, genders and we all have different lifestyles. It’s just common sense to reject the idea that we all need the same food, in the same amounts, at the same time,” Habit CEO Neil Grimmer wrote in a blog post. “Science now backs up this common sense. Our bodies need different things. Our biology, our DNA, the blood running through our veins tells us that. We just need the tools to tune into our bodies and listen to what foods it’s asking for.”

So, even though consumer genomics is still in its infancy, we’ve seen a number of companies coming into the space and leveraging the innate curiosity people have about themselves and working to transform that information into a guide for living based on their genes. But the science lighting those paths is still fuzzy.

“Genomics is really mind-boggling,” said Chan. “We’ve come so far, but at the same time, we need to remain really humble. It’s a process and evolution, and some stages are still really early. We have not solved all of the problems. It’s going to be tricky if people are not careful, responsible and critical.”