NEW YORK (GenomeWeb News) — In a 1989 piece in Rolling Stone about "the Net" and its future impact on everyday lives, science fiction writer William Gibson avoided making any sweeping predictions. "As to what … [the Internet] will actually be able to do for you one day, my best bet is that the words for it haven't been invented yet," he offered. Today, this is as much as can be wagered about the influence genomics might have on medical advancements, the ability to predict and prevent disease, and the capability to live healthier lives.
"A lot of people in the early days thought [the Internet] was just going to be an educational tool or a basic tool for research and maybe [for sending] emails," said Matt Posard, senior VP and general manager of Illumina's translational and consumer genomics business. Yet, as of June 2012, two billion people out of seven billion in the world are connected to the Internet, marking growth of more than 500 percent between 2000 and 2012. Illumina, one of the top manufacturers of sequencing and genotyping technologies used by labs around the world, is betting that genomic advances will follow a similar trajectory, leading to the development of products that will one day become indispensable to consumers' lives. Illumina and other companies eyeing the consumer genomics market believe that just as the average person today doesn't interface with the Internet in programming language, people will start benefitting from genomic advances when their DNA code is presented more simply and in the context of useful applications, for example, through the equivalent of an Amazon or a Facebook.
23andMe is one of the front runners in the race to develop a killer app for genomics by moving scientific advances into the consumer market. The privately held company sells "spit kits" through a website, genotypes consumers, and returns online reports about their ancestry, risk for diseases, and likely drug responses. Last year, after raising $50 million in financing, 23andMe dropped the price of its service from $299 to less than $100 and announced its goal to genotype one million customers. The lower price point is bringing in "a much broader range of people," said Brian Naughton, a 23andMe founding scientist. After 23andMe launched in 2007, its customers were mostly academics and people with the means to afford the $1,000 price tag for the service, but the "demographic has shifted a lot since the very beginning," Naughton said. "Now, we're seeing people of all ages, sexes, and interests."
Over the years, 23andMe has fine-tuned the way it presents customers' genomic information, making it more accessible to the average person who may come to the service without any prior knowledge of the science. Karen Durrett, a stay-at-home mom of three from Georgia, bought a 23andMe test in 2008 after seeing the company featured on Oprah. Knowing that her mother suffered a cerebral aneurysm in her 30s and several heart attacks, and that her grandmother died from heart disease at the age of 57, Durrett thought she could possibly benefit from getting tested and learning what disease risks she had.
When Durrett purchased the 23andMe test, which was $499 at the time, "it was pretty basic," she recalled. For example, 23andMe didn't offer the Relative Finder tool that customers can use today to connect with distant family members based on genetic information. When the test results came back, "it was a little bit gibberish for me at first," she admitted. "It was a whole new concept. There wasn't that much information about how to decipher what the results meant or the genomic studies." Although intellectually curious, Durrett doesn't have any formal science training and she didn't finish college. She stuck with it, though, and found distant cousins, through whom she would eventually discover that the man she called "Dad" wasn't her biological father. In the next few months, after 23andMe updated its research findings and disease risk information, Durrett would also learn about her heightened risk for breast cancer. This information — coupled with the knowledge from her biological father that his oldest sister had died from bone, brain, and breast cancer — would help Durrett make decisions that would lead to the early identification and treatment of her own breast cancer.
23andMe not only gave Durrett potentially critical information related to her health, but the firm has also helped her learn about genomics concepts and find the vocabulary to articulate her own experience with her DNA data. In an interview, she spoke about looking at haplogroups in exploring her ancestry. She couldn't recall the specific mutations, but she knew she had a higher risk of breast cancer than the normal population, and that result, at one point, was at the top of her disease risk report. She recounted with certainty that she didn't harbor any of the BRCA mutations associated with heightened risk for hereditary breast and ovarian cancer that 23andMe tested for. She understood that her family history of cancer plus her genetic risk could be meaningful for her health. Although her husband initially ridiculed her for spending $500 on a genomic test, after Durrett's experience getting tested, no one's laughing at her. She has even purchased 23andMe's tests for several members of her family, including her children.
According to Illumina's Posard, at the rate 23andMe is improving its service and expanding its customer base, the company can reach its goal to genotype a million people by year's end. "In 1985, when the mainstream consumer [cellphone] products were being introduced, there were 300,000 phone subscriptions in the US," Posard noted. "It took five years for there to be one million subscriptions. We're at a point now where there are 100 million more subscriptions every five years. There were 300 million just last year."
He is optimistic that this type of growth is possible in the consumer genomics market. "As the technology matures, it's not unreasonable to think that there are tens of millions, possibly hundreds of millions of people who will be dependent on this information to feel connected to one another and to live healthy lives," he said.
Illumina believes so firmly that genomic testing will take off in the consumer market that the company has launched an entire division, led by Posard, dedicated to supporting efforts in this regard. Consumer-focused genomics firms, such as 23andMe, Ancestry.com, and FamilyTreeDNA.com, as well as National Geographic's anthropological ancestry project, use Illumina's platforms to genetically test customers. To date, 23andMe has genotyped more than 200,000 people. National Geographic's Genographic Project, which sells a $200 genetic test to track ancestry, boasts more than 500,000 customers, while FamilyTreeDNA has tested more than 600,000 people globally since launching in 2000. And Ancestry.com, the largest genealogy company that tracks family history using public records, boasts 2 million paying customers for its various services, although the majority may not have purchased DNA testing.
As more people become interested in what their DNA can tell them, some players in the life sciences space are developing products with a vision of the future in which everyone has their whole genome sequenced at birth and the raw data are stored as part of their medical records. For example, this year, the Coriell Institute for Medical Research teamed up with IBM to launch a for-profit company that will store consumers' whole-genome sequencing data in a gene vault. Once securely stored, consumers can give their doctors access to the information, and they, in turn, can run certain medical interpretations on the data as the need arises. In addition, Illumina last year launched the MyGenome application, which allows consumers to explore a human genome and learn about genetic variations on an iPad. In the future, Illumina hopes to develop new versions of the app, so people who have had their genome sequenced can explore their own data on their mobile devices. Meanwhile, the National Institutes of Standards and Technology has formed a consortium of experts, called "Genome in a Bottle," to establish reference materials and standards for advanced sequencing technologies.
Despite these nascent efforts to integrate genomic data into mainstream care, the level of consumer-driven adoption that Posard and others are hoping for is unlikely to occur in the short term. The consumer genomics industry is currently hampered by regulatory, technological, and scientific uncertainty, making most market observers cautious. "The investment community is frustrated that DTC genomics does not have a clear path forward," said Avi Kulkarni, partner at Booz & Company and a member of the management consulting firm's global health practice. From a scientific standpoint, "it feels like we have a long way to go before we'll be able to draw a true map" of the interplay of genes and diseases, he added.
Regulation: Enthusiasm Killer
When a number of health-focused DTC genetic testing companies entered the market six years ago, state health regulators in New York and California kicked up a fuss because these firms were selling tests online, without requiring that consumers consult their doctors. After genomic testing firm Pathway Genomics announced plans to sell saliva collection kits at pharmacies for its DTC service in 2010, FDA sent letters to Pathway and several other companies in the consumer genomics space, including 23andMe, Decode Genetics, Navigenics, Knome, and Illumina, asking them to garner approval for their tests. The same year, the US Congress held a hearing about the burgeoning DTC genomics industry, after the Government Accountability Office secretly investigated a number of these firms and concluded that the tests they sold were "misleading and of little or no practical use to consumers" (PGx Reporter 7/28/2010).
Since then, most companies that were selling genetic tests straight to consumers are either no longer in business or have begun marketing their services to physicians instead. Icelandic firm Decode Genetics was acquired in December by drug developer Amgen for its genomic expertise and its large database of genotype-phenotype associations. Similarly, Navigenics was purchased last year by Life Technologies for its clinical lab. Amgen and Life have said, though, that they will not continue the consumer-focused genetic testing side of these businesses.
Pathway, however, has maintained its business by marketing to doctors genetic testing services for cardiac health, fitness, drug response, health conditions, and pre-pregnancy planning. Illumina received a letter from the FDA three years ago, because its research-use genotyping arrays were being used for clinical diagnostic testing by DTC firms 23andMe and Decode. However, the firm's individual genome sequencing services, launched in 2009 with a $48,000 price tag, have always required a physician's prescription (current prices start at around $7,000). Meanwhile, Knome offers genome sequencing and interpretation tools only to researchers.
This leaves 23andMe as the only company still operating its entire genomic testing business under a DTC model. The company submitted tests from its Personal Genome Service for FDA clearance last year, but it's unclear whether an agency decision will come with the condition that 23andMe market health-related genetic testing information through physicians. The FDA has said it plans to issue regulatory guidance on the DTC sale and marketing of genetic tests, but hasn't issued anything formally. 23andMe declined to comment on its ongoing discussions with the agency, and, as such, it remains somewhat of a mystery as to how the company has been able to maintain its consumer-centric model while its competitors have succumbed to regulatory pressure.
Russ Altman, professor of bioengineering, genetics, and medicine at Stanford University and previously a scientific advisor to 23andMe, said that the company has been able to keep its DTC business by remaining "unapologetically not medical" ─ despite the fact that the company provides health-related information in its reports with the caveat that the genomic findings are based on up-to-date, but evolving research. The company markets its genetic testing service as "fun," has hosted "spit parties" with celebrities, and, before Congress and the FDA, has stood firm behind the ethos that people have a fundamental right to the information contained in their DNA. With Google as one of its financial backers, 23andMe has also had more success in raising private funding than its former competitors had, bringing in more than $100 million to date.
In contrast to 23andMe's approach, the DTC genomics firms "that fell by the wayside were the ones that were trying to be medical," Altman noted. While the FDA has indicated it considers tests marketed by DTC firms to be medical devices that require its approval, the agency does not seem to have a problem with consumers having direct access to genetic data related to ancestry or to their raw genomic data.
After interactions with the FDA, Gene by Gene launched a DTC sequencing service earlier this year that only provides consumers with raw data from whole-genome sequencing and exome sequencing analysis, meant to be used for research purposes. It also provides, as a DTC service, ancestry and genealogy testing through its FamilyTreeDNA subsidiary.
"What we learned [through discussion with the agency] is that the FDA doesn't want companies saying anything about a likely medical condition, unless the company is a doctor," said Bennett Greenspan, Gene by Gene managing partner and FamilyTreeDNA CEO. "The agency wants all that information explained by an MD. We found that the only caveat was that if you didn't explain anything, then they recognized that it's your personal DNA and if you want to look at it for your own personal research purpose, that's not within the FDA's purview."
Illumina last year hosted an event called "Understand Your Genome," where 48 attendees, who had gotten their whole genome sequenced, received interpretation of 344 genes associated with more than a hundred diseases. For $5,000, participants could attend the two-day event, get their genomes sequenced and interpreted for the specific genes, and view their results on the MyGenome App. In order to get sequenced as part of the event, however, participants needed a doctor's prescription and provided a sample to be analyzed ahead of time. The next UYG event, slated for May, will provide participants interpretation of 1,000 genes, according to Posard.
"Because the test that we provide is whole-genome sequencing … our decision, based on advice we've received from our ethics advisory panel and our scientific advisory panel, is that at least for now, we want to provide it in a medically responsible way, so that consumers understand up front the information that they'll be getting, and that they're counseled and coached on that information," Posard said. He added, however, that Illumina's strategy "may change over time" as the research advances and the company gains more experience working with consumers and doctors.
Family Trees: Low-Hanging Fruit
While regulation may have dampened commercial efforts to sell medically related genetic tests directly to consumers, genomic analysis for ancestry and genealogy are not only operating DTC, but expanding rapidly to satisfy people's growing desire to explore and discover their origins.
Sharon Misdea, deputy director at The Wolfsonian – Florida International University, is an avid genealogist and a participant in National Geographic's Genographic Project. Misdea's investigations into her paternal roots took her to New Caledonia in the South Pacific three years ago. There, she met her biological grandfather, Henri Stumph, who was suffering from the advanced stages of Alzheimer's disease. While in New Caledonia, she learned through distant relations that her great-great-grandmother was a Javanese immigrant worker who had four children with a Vietnamese political exile, known only as "Tao." Because neither were citizens of New Caledonia, they paid a man named Joseph Stumph to "legitimize" their children, so they would have the benefits of citizenship. Through this common practice, Henri's mother Alice got the German last name, Stumph, and passed it on to her son.
The family trail went cold after that for Misdea. There was no information about the man who fathered Henri with Alice. Frustrated by the lack of documentation to back up the oral history, Misdea got tested through National Geographic last year and learned that she had 35 percent Asian ancestry. Although her sister has some Asian features, "you would never know it by looking at me," said Misdea, who has training as an anthropologist. For Misdea, the oral history and the genomic data came together and validated each other. "DNA in isolation wouldn't have told me too much, but the DNA results give more weight to the oral history," she said.
Misdea plans to get her father genetically tested so she can use results on the Y-DNA to explore deeper into past generations. However, she is on the fence about whether she would want to learn about her predisposition for diseases through a 23andMe-type of service. "It's just not that important to me. There is no familial medical history that's cause for concern, except [my grandfather's] Alzheimer's. I'm torn about it," Misdea said. "Part of me feels I don't need to live with worry that something that shows up in my genetic results will come to pass. At the same time, I see that it has some utility in that if a result comes up that's [associated with a] treatable [condition], then it would be good to have that information. So, I haven't decided." She admitted that at this point, if she does get tested through 23andMe, it would be because of the ancestry offerings.
"I think there are concerns on the part of a lot of people around some of the disease risks that are returned from 23andMe," said Spencer Wells, director of National Geographic's Genographic Project. "Some people just don't want to know about that, whereas there is a broad interest in genealogy and family history."
According to a January 2012 report by Global Industry Analysts, amateur genealogists spend between $1,000 and $18,000 a year to find out about their ancestors, and genealogy is one of the top hobbies for Americans. If genomic testing firms are currently restricted by FDA in the way they market health-related tests to consumers, then the increasing interest in genomics among genealogy enthusiasts offers a more stable market for growth. National Geographic, with more than half a million customers for the Genographic Project, last year migrated to a new chip that it developed in collaboration with Illumina, FamilyTreeDNA, and John Hopkins. With this chip researchers can delve more deeply into anthropological ancestry patterns by testing for markers in the Y-DNA, mitochondrial DNA, and autosomal DNA.
Gene by Gene's Greenspan acknowledged that genealogy and ancestry testing through FamilyTreeDNA is bringing in the bulk of the company's revenues. FamilyTreeDNA earlier this month dropped the price of its Y-DNA test to $39, likely with a strategy to woo more customers.
"Our entire history and medical book is written into our cells and only now are we beginning to learn how to read the book," Greenspan said. "From a complete standpoint, we may know a little bit more about human migrations and our great leap out of Africa over the last 60,000 or 70,000 years than we know about our medical book."
Besides regulation, the consumer market for health-related genomics is also hindered by the lack of scientific certainty. In particular, there is much that is unknown about the interplay of genomic and environmental factors that cause chronic ailments, such as diabetes and heart disease.
In a study by the Scripps Research Institute of more than 3,000 people who received DTC genetic testing through Navigenics for 15 conditions, including the autoimmune illness Graves' disease and diabetes, researchers found that genetic tests are as effective — but not more effective — as a person's family and personal medical history in assessing their risk for disease. Based on these findings, the researchers recommended that DTC testing services may be medically useful to consumers only when information about their traditional risk factors, such as family history, aren't available (PGx Reporter 12/7/2011).
Mike Alcorn, senior administrative director at Scripps Translational Science Institute, and his identical twin brother Murrie were adopted by a California couple in the early 1950s. As a result, he didn't know his biological relatives' genetic background. When Scripps began studying the impact of DTC genetic testing a few years ago, employees were offered the chance to get tested. "I thought it was the perfect opportunity to get that background the best I can," he recalled.
After getting the test results back, Alcorn learned that he had a three-fold greater risk than the normal population of developing macular degeneration, so he got his eyes checked out by an ophthalmologist. Alcorn knew, of course, that just because he had a genetic risk for a condition didn't mean that he was destined to get it. Still, "I wanted to make sure that at age 56, I wasn't going to be looking at that down the road," he said. The ophthalmologist said he didn't have anything to worry about. Since Alcorn had gotten tested, his brother knew he had the same genetic risks and did not get tested.
"I think the broader population is curious and ready to find out, but unfortunately medicine isn't quite ready," Alcorn said. "The average practicing physician doesn't know what to do with this information. So, it becomes trivial. It's information you know, but so what? What do you do with it now?"
There are still too many gaps in genomics knowledge for broad consumer adoption, according to Booz's Kulkarni. "If DTC genomics … could answer questions like, 'Do I have a very high risk for an addiction syndrome? Does my genetic profile indicate a high likelihood of progression of Alzheimer's …? Does my cardio-metabolic score suggest that I need to be extra cautious about environmental factors?' then the demand from consumers would create [a] sort of groundswell," he said over email. This, in turn, "would force either legislative or regulatory action to support the development of clear, actionable guidelines" for the industry.
Investors are also watching for improvements in the newer genomic technologies that DTC firms are starting to use to analyze customers' samples.
Gabe Rudy, VP of product development at bioinformatics firm Golden Helix, got his own, his wife's, and his son's exome sequenced via a 23andMe pilot program, and, upon interpreting the data, found several "buggy" results. Under its regular DTC service, 23andMe uses a microarray to test for 1 million SNPs. Through the pilot, offered to a limited set of existing customers in late 2011, 23andMe sequenced existing customers' exomes — 50 million DNA bases in the coding region of the genome. Pilot participants received from 23andMe a summary report of the data findings, a list of potentially interesting rare variants, a file containing detailed information on 100,000 variants called on their exome, and another larger file that allows people to conduct their own bioinformatics analysis and look for false negatives. However, through this pilot, 23andMe didn't provide any information as to what, if any, significance the called variants have to customers' health. As such, the pilot was meant for people like Rudy, who were comfortable making sense of this information.
23andMe used the Agilent SureSelect platform to enrich samples for the exome sequencing effort. However, an off-the-shelf capture kit like the one 23andMe used may not analyze all regions of the exome at a high enough depth for the results to be comprehensive. Rudy estimated that approximately 10 percent of his exome data reported by 23andMe fell into this category. "The clinical folks are very concerned about that because they can't really have tests where 10 percent of the stuff we're looking for we might miss each time and it might be a different 10 percent for each person," he said.
In addition, upon investigating the findings in an updated report that 23andMe later provided, Rudy identified 8,000 "phantom variants," which look like "high quality" variants but which just don't exist in his exome. It turned out that this was due to a glitch in the software 23andMe was using, the Broad Institute's GATK, which the company later resolved. Nevertheless, it highlights the fact that the tools used to analyze such data are intended for research use and are rapidly evolving.
Rudy pointed out that although 23andMe made an effort to follow best practices and industry guidelines, the firm's exome analysis is still "research grade" and not meant for clinical use. "23andMe is essentially trying to test the waters … so it's understandable that things are still rough," he said. "But if you're setting this up in the context of deliverables to customers, or really in any context, every single change you make [to the analysis technology] will require you to re-validate it."
Getting the variant calls right, however, is only part of the challenge of genomic analysis. Interpreting what these variants mean in terms of diseases – for example, figuring out whether certain alterations are linked to an illness at all – gets even more complicated. "For people without symptoms, you can find lots of things [with genome sequencing] that look like they've been implicated directly … with these extreme Mendelian disorders," Rudy said. "But we just don't have a lot of exomes for healthy people to counterbalance that and say, 'Yes, a lot of people seem to have the same mutations and they are perfectly fine.'"
Given the current scientific uncertainties in the market, particularly for emerging genomic technologies, Kulkarni doesn't have a good gauge on the types of consumer-focused genomics companies that investors are willing to bet on. "The majority of pitches today are coming from companies with very narrow clinical indications (e.g., fetal trisomy) and even the life sciences angel investor community, which is such a good barometer of interest in the space, is actually not making significant investments," he said via email. "I believe everyone is waiting for the next step function change (in regulation, technology and disease correlation) and until then, we are going to see neither heat nor noise."
In Partnership with Doctors
Consumers, as long as they understand the limitation of the analysis provided by DTC firms, should have direct access to their genomic data, Rudy believes. While 23andMe's web page describing the exome pilot did include the caveat that the service was meant for "customers who are comfortable managing and understanding raw genetic data," Rudy thinks the company didn't do enough to explain what participants would and wouldn't receive within the exome sequencing pilot. As a result, quite a few people who got their exome sequenced "had no idea what to do with it," he said.
"Because 23andMe's primary [genotyping] service is so well polished — they deliver this great level of pharmacogenomics, traits, and lifetime risks of complex diseases … they run the risk of people assuming that the exome sequencing is the same type of service, when it's completely different.
"It's like getting something from the core lab versus getting something from your doctor," he continued. "The core lab is just delivering you data whereas the doctor is making it more meaningful to yourself."
Consumers, particularly families affected by undiagnosed illnesses, may have increased expectations about what genetic and genomic testing can do for them after hearing about several high-profile success stories, such as that of Nicholas Volker. Back in 2010, six-year old Nicholas was suffering from a severe type of inflammatory bowel disease. He had undergone more than 100 surgeries and was non-responsive to treatment. His physicians suspected Nicholas had an immune disorder, but weren't certain enough to perform risky treatment procedures on the already sick child. A team of researchers at the Medical College of Wisconsin sequenced his exome and found a mutation in the XIAP gene associated with an inherited immune disorder. Following this diagnosis, Nicholas' doctors were able to perform a cord-blood transplant and as a result, he is doing well today.
While the Volker case highlights the power of genome sequencing, it also illustrates that interpreting data from such testing requires an army of experts. Cinnamon Bloss, director of social sciences and bioethics at the Scripps Translational Science Institute, believes that people should have direct access to their genomic data, but sees the role of doctors and the need for expert interpretation growing as genomic analysis technologies get more complex.
"Especially with sequencing as a follow-on to DTC testing, most people feel like perhaps there is more potential [to affect behaviors] in partnership with a physician," Bloss said. Particularly if genetic testing is being used as a part of a diagnostic strategy to treat patients with rare diseases, she said it would be "hard to imagine doing that without involving a healthcare team."
Unfortunately, most doctors today are poorly educated in genomics, leaving consumers on their own to follow up on their test results. In the fall of 2010, some time after Karen Durrett found out she was at heightened risk for breast cancer through 23andMe and learned that she had a paternal aunt who died of cancer, she got a mammogram. It came back abnormal. After repeating the mammogram, her radiologist identified two "micro-calcifications" in her breasts, but told Durrett they were "probably nothing" and that she should come back in six months.
Durrett requested a biopsy, but her radiologist refused. "I told him that … I recently had a DNA test that indicated that I am at high risk for breast cancer and I've uncovered the fact that I had an aunt who died of breast, bone, and brain cancer, but we don't know where it started. And I just really, really would like to be tested," Durrett recounted. "He had no clue what I was talking about — DNA, genetics, blah, blah … but I am tenacious." Durrett eventually convinced the radiologist to let her get a biopsy, which revealed she had ductal carcinoma in situ, a type of breast cancer that starts in the milk ducts. After getting two lumpectomies, 33 radiation treatments, and multiple reconstructive surgeries, Durrett is doing well today. If she had waited six months to get that biopsy, it may have been too late, she said.
Stanford's Altman has been working to integrate genomic information into mainstream healthcare for the past 15 years. In his view, the most near-term opportunity is in pharmacogenomics — the discipline of using genomic data to personalize drug-prescribing decisions for a particular patient. Helping docs understand disease risk information from genetic tests and use it to inform patient care is a more complicated prospect, and will take a lot of education. But it doesn't require much for a physician to pick up the concept "that the genome can influence drug response," and even consumers realize the value of this type of information, Altman noted.
With this in mind, Altman co-founded Personalis, a genome sequencing and interpretation company that will market its services to physicians. Personalis is currently providing its services only for research purposes, but will eventually launch direct-to-physician sequencing and interpretation offerings. Before that, however, the firm plans to conduct implementation studies to gauge whether doctors are using pharmacogenomics data in treating their patients and, if so, whether such information leads to improved patient outcomes. "Those kinds of things are what we really have to do to make sure this is ready for clinical deployment," said Altman, an attending physician at the Willow Clinic – San Mateo Medical Center in Menlo Park, Calif., and the principal investigator of PharmGKB, a curated database of genetic variations and their association to drug response.
Moreover, when Personalis does launch its PGx testing service for doctors, it will take a bold leap directly into exome- or whole-genome sequencing, but will present the information in a format that physicians in busy practices and hospitals can use confidently in patient care. "If it's just about common variations, you can measure a couple of SNPs for a hundred dollars," Altman noted. "But we think that's not the long-term solution. So, we're going to skip to the whole-genome sequencing." Personalis did not provide a price point for the firms' services.
Pathway Genomics, which is now marketing all its genetic testing services to physicians, is also seeing growth in its pharmacogenetics testing service, which characterizes patients' responses to 10 drugs. Unlike Personalis, however, Pathway CEO James Plante doesn't plan to tackle genome sequencing anytime soon. "Whole-genome sequencing will evolve. It's still very expensive and not accurate enough to be used in the clinic yet," Plante said. "It's a very nice research tool. And we see specialty focused, targeted next-generation sequencing being introduced first. But a clinical whole genome is still very far into the future."
Finding the Words
More than two decades after Gibson's Rolling Stone piece, the world is bursting with the vernacular of the Net: "google,"blog," and "tweet" are now common verbs while "like" and "unlike" have taken on new significance; "posting" likely has nothing to do with the postal service; and people use three letters to laugh out loud.
In genomics, meanwhile, the letters — the A, C, T, and G — have been laid out, but "the words … haven't been invented yet," as Gibson wrote. Researchers are still in the process of figuring out the genomics puzzle for many major diseases, and, as a result, the model by which to present this evolving science to consumers is also in flux.
Still, in maintaining its DTC service, 23andMe has undoubtedly helped educate its customers about genomics, particularly by engaging them in research. Using a crowd-sourced approach, 23andMe mines the genotypic and phenotypic data of customers who have agreed to partake in research. According to 23andMe, approximately 90 percent of its more than 200,000 customers opt in to participate in its studies. The company has gathered more than 90 million phenotypic data points from customers' survey responses, at the rate of 2 million new phenotypic data points each week.
With the help of its customers, 23andMe published a paper in 2010 in PLOS Genetics where researchers identified markers associated with a number of traits, such as hair curliness, eye color, and freckling. The following year in the same journal, 23andMe published data on two new genetic associations linked to Parkinson's disease and confirmed 20 previously reported gene links with the illness.
"Never having met these people, a million things could have gone wrong, and yet [23andMe was] still able to make very good discoveries," said Altman, who has gotten himself and his whole family tested via 23andMe.
After receiving their 23andMe genotyping reports, Altman's children each had very different reactions. His eldest son, who was a history major, was fascinated by the ancestry and migration information. Altman's second-oldest child looked at the various health risks in her report and wondered if she had anything to worry about medically. After Altman's youngest daughter, a senior in high school, looked at her report, she pointed to her eyes and said, "Dad, my eyes are blue. Why did you pay a hundred dollars for somebody to tell us that my eyes are blue?"
"It was these three totally different responses, and this really captures what 23andMe offers," Altman reflected. "It gets genetics into the conversation. It brings genomics to the people and it makes it less mysterious."
After publication of this story, Scripps' Mike Alcorn clarified remarks about his family background. This story has been updated to reflect that.