News Article | December 14, 2016
Research and Markets has announced the addition of the "Global In-vitro Diagnostics Instruments Market 2016-2020" report to their offering. The global in-vitro diagnostics instruments market to grow at a CAGR of 9.73% during the period 2016-2020. Global In-vitro Diagnostics Instruments Market 2016-2020, has been prepared based on an in-depth market analysis with inputs from industry experts. The report covers the market landscape and its growth prospects over the coming years. The report also includes a discussion of the key vendors operating in this market. The POL test segments are related to actionable infectious disease markers, cardiovascular diseases, and diabetes care. Most common infectious disease testing has enabled the usage of molecular diagnostic instruments in the POL practice. Many instruments that are usually used for testing in the central labs, now support the testing in POL. While CLIA testing for such molecular assays would increase its market growth, certain regulatory aspects over CLIA-waived test would likely delay its market growth. According to the report, POCT testing for cardiovascular biomarkers is a strategic IVD focus area even for non-traditional healthcare companies. In 2011, Samsung Electronics acquired Nexus Dx, a developer of rapid POC tests for diagnosing cardiovascular disease. Loss of employer sponsored health plans due to unemployment drove many Americans to seek other ways of receiving routine healthcare. Retail clinics, pharmacies, and home care settings have gained popularity because of added conveniences. Further, the report states that IVD industry consolidation intensified since 2012. Crucial deals in 2012 include Hologic's acquisition of Gen-Probe and Life Technologies' acquisition of Navigenics, a genetic testing laboratory. The other notable consolidation includes larger company like Agilent) with considerable resources and has increased the ability for the acquiring company to compete and control market dynamics in its favor. This is threatening the market entry of small companies. Part 01: Executive summary Part 02: Scope of the report Part 03: Market research methodology Part 04: Introduction Part 05: Market landscape Part 06: Market segmentation by product Part 07: Market segmentation by end-user Part 08: Geographical segmentation Part 09: Focus on emerging markets Part 10: Market drivers Part 11: Impact of drivers Part 12: Market challenges Part 13: Impact of drivers and challenges Part 14: Market trends Part 15: Vendor landscape Part 16: Key vendor analysis Part 17: Appendix For more information about this report visit http://www.researchandmarkets.com/research/6h7bfv/global_invitro
Navigenics | Date: 2013-12-13
The present disclosure provides methods and systems for personal action plans based on an individuals genomic profile. Methods include assessing the association between an individuals genotype and at least one disease or condition and providing rating systems for an individuals action plan. Incentives to motivate and encourage people to improve their health and well-being are also disclosed herein.
Navigenics | Date: 2012-09-12
The present disclosure provides methods and systems for assessing an individuals genotype correlations to a phenotype by analyzing the individuals genomic profile and using ancestral data to determine the correlations between genotypes and phenotypes.
News Article | April 21, 2012
The cost of sequencing the human genome continues to fall, reaching a low of $1,000 this year due to a new microchip and machine designed by genetics company Life Technologies Corp. And unleashed by those lower costs, a small cadre of entrepreneurs in Silicon Valley is exploring ways to harness this data to enable us to live longer and healthier lives. Dr. Dietrich Stephan, a human geneticist, has spent the better part of a decade trying to achieve that goal. Until recently, it has been costly and time-consuming to map the 3 billion units of DNA, known as base-pairs, which make up the human genetic code. But now, he said, with the low cost of gene sequencing technologies, we are on the brink of banishing a one-size-fits-all approach to medicine. “Every disease has a genetic component, and yet largely none of the available genetic information is being used today to treat patients,” he said. Genome sequencing had been limited to a select few. Biographer Walter Isaacson claims the late Steve Jobs had his DNA sequenced for $100,000 after being diagnosed with pancreatic cancer. To biotech entrepreneurs, bringing gene sequencing to a mass market is the most exciting development since the completion of The Human Genome Project. According to Joe Betts-Lecroix, a biophysicist and entrepreneur, that major international undertaking was expected to yield a map of the mutations that cause disease. Instead, genetics researchers found that the genes only seem to account for a tiny percentage of inherited traits and differences between a healthy and sick person. “The Human Genome Project was a monumental achievement, but also a huge disappointment,” said Betts-Lacroix, who recently delivered a rousing TEDx SF talk on using genetics to cure aging. “It’s not about the human genome, but more the human gene pool. To really understand what’s going on, we’ve found that we have to sequence the DNA of millions of people. This work is only beginning, and will require much lower-cost sequencing. Fortunately, that seems to be upon us,” said Betts-Lacroix. At a select few hospitals across the country, the work has already begun. In 2010, the Children’s Hospital in Boston recruited Dr. Dietrich Stephan – a biotech entrepreneur fresh from the success of Sequoia-funded genetics startup Navigenics – to join the Gene Partnership Initiative, one of the first efforts to gather genetic information about disease. Relying on his experience as a biotech entrepreneur, Stephan developed the hospital’s first sustainable program to sequence the genomes of 100,000 young patients. The program is still ongoing, and researchers are finding links between genes, the environment, and complex genetic disease. Already, the flood of genetic information is being used to produce drugs that are better targeted to patients. Not everyone processes medicine in the same way; by understanding patients’ genomic make-up, doctors can provide a therapy they’ll respond to best. That’s an important capability considering that this year alone, close to 800,000 people were injured or died due to adverse reactions to drugs. “With the knowledge we have now about your genes, we are finding ways to diagnose sick people earlier and develop medicines to zap the core defect,” said Stephan of the Gene Partnership Initiative. Biotech entrepreneurs predict that the low-cost of gene sequencing technologies will yield new approaches to the treatment of cancer and other diseases by 2015. With this in mind, Stephan has delved into clinical diagnostics with a new startup, Silicon Valley Biosystems. With his latest venture, he said the goal is to “get fancy IT into the hands of physicians so patients can benefit from it.” “It’s no longer business as usual in medicine,” he said. Patients will be “touched and informed by genetics” in the next 2-5 years, meaning that hospitals will increasingly adopt gene-sequencing technologies to better treat and diagnose disease. Sabah Oney, business development lead at SVBio, said we’ll see common diseases being re-branded as we better understand their root cause. “Instead of diagnosing breast or lung cancer, physicians will refer to the disease by its genetic abnormality.” The major challenge facing genetics entrepreneurs is to take the concept from the lab and turn it into a commercial product. “The rate of failure discourages many investors,” said Mohsen Moazami, founder and general partner of Seif Capital, an early stage venture capital firm focused on health and bio-sciences. “But there’s no question in my mind that for a subset of companies that crack the code on this effort, the opportunity is immense,” he added. The startup that firmly put the spotlight on genetics is 23andme, which provides insights on your future and ancestral past based on a DNA sample. This month, the company hit a new milestone: 150,000 users. 23andme does not sequence the entire genome. Instead, it determines through genotyping whether users are at risk of developing particular diseases. Genomic sequencing is the future, but 23andme boasts a vast database of genetic information. “This data is driving a whole new wave of discovery in terms of genes and environment. The real meaning will become clear in the next few years,” said Dr. Uta Francke, senior medical researcher for 23andme. This year, 23andme has participated in research to understand how the body will react to certain medications. Francke recalls a recent study of how a female user in Australia discovered through the test that she was highly averse to anesthesia. “She may not have woken up. Some of these people say 23andme has saved their life,” said Francke. “We think there is evidence that when people know their genes they take their health more seriously,” Francke added, although she did not point to supporting research. She suggests that users should print out their information and take it to their personal physician for advice about taking actionable steps to improve their health. Critics of 23andme say that when this information is placed directly into the hands of consumers, very few choose to adjust their lifestyle accordingly. It took several years for 23andme to attract 100,000 users. WellnessFX, a San Francisco-based health and wellness startup, is among the first to leverage human health data to prevent the onset of disease. The company’s target market are people who want to remain in peak physical health for longer. These users can access a visual spectrum of both genetic and biological data. The idea is that data is only meaningful when it’s used to make recommendations to improve general health. Users are re-tested at regular intervals to chart improvement. “We show users that if they change their lifestyle and nutrition, they will see measurable results in a finite period,” said Jim Kean, chief executive officer of WellnessFX. Individuals can log in to explore a colorful display of their data at any time; Kean calls it a “personalized health dashboard.” Innovation on the genetics data front has moved at a glacial pace and has yet to hit a mainstream market. But startups like SVBio, Knome, Illumina, and Navigenics have succeeded in raising awareness about how data can improve public health. This March, the Obama administration showed its support with a $200 million grant for industries that can benefit from “Big Data.” With the increased availability of human data, it’s no surprise that the National Institute of Health (NIH) received the lion’s share. As part of this initiative, the world’s largest set of data on human genetic variation was uploaded on Amazon Web Services cloud (AWS) and is available to all researchers. Betts-Lacroix, a serial entrepreneur working with startups like Halcyon Molecular to develop advanced DNA-sequencing technologies, said this open data will precipitate a gold rush for genetics research. As he puts it: “There are discoveries just waiting for people to find them, no lab work required.” Christina Farr is a Bay Area-based writer with a graduate degree from the Stanford School of Journalism. She covers entrepreneurship, technology, and investment trends. Christina works for, but does not speak for, Eastwick, an agency in Silicon Valley.
News Article | April 15, 2013
Should human genes be patented? The Supreme Court is weighing in today in a landmark case, Association for Molecular Pathology v. Myriad Genetics, Inc., 12-398., that will have an enormous impact on the future of science, technology, and medicine. At the center of the debate is Utah-based Myriad Genetics. Scientists at the biotech company discovered two genes — BRCA 1 and BRCA2 — that are associated with hereditary breast and ovarian cancer. Since then, it claims its tests have been used by more than one million women to determine if they have an increased risk of developing these cancers. The company patented these discoveries — the “synthetic molecules we isolated and created in the lab to provide life-saving tests,” the company’s CEO explained in an op-ed in USAToday. But Nobel Prize-winning geneticists argue that the patent will stifle research and medical diagnostic testing. Because of its patents, Myriad can prevent other researchers from testing, studying, or even looking at these genes, and it also holds the exclusive rights to any mutations along those genes, according to the American Civil Liberties Union (ACLU). The U.S. patent system’s rules stipulate that you can’t patent a product of nature or a law of nature, even if research took years and proved costly. For this reason, Albert Einstein did not patent the law of relativity. A parallel can be made with a rare East African plant, which has a variety of medicinal uses. It might be plausible to patent a drug that comes from the plant, but it would be unreasonable to patent the plant. “Over the past 20 years, at least 41 percent of our genes have become the intellectual property of corporations,” genomics professors Christopher E. Mason and Jeffrey Rosenfeld argue on the ACLU’s blog. “These patent claims contradict an intuitive sense that our DNA is no less ours than our lungs or kidneys,” they continue. The ACLU also claims that the patent has allowed Myriad to charge patients exorbitant rates for its test. Until recently, the medical profession largely shunned patents. A favorite quote that has been liberally used by Myriad’s opponents is from Dr. Jonas Salk, who invented the polio vaccine. Rather than file a patent on the vaccine, he reportedly said, “There is no patent … could you patent the sun?” Human geneticist Dietrich Stephan says he’s been following this debate closely since 2006. Stephan is the cofounder of Navigenics, a genetics diagnostics company acquired by Life Technologies Corp. in 2012. Stephan agrees with the ACLU, and is concerned that patenting genes will be detrimental to patients. “You should be able to give patients gene sequencing information that will benefit their health,” he said in an interview. “Patents may prevent that.” According to Stephan, the likelihood of the Supreme Court siding with Myriad Genetics is low. Myriad will still own the brand and have the highest-precision test in the market. So even if three competitors emerged tomorrow, Myriad will still out-perform in sales. “Even so — competition is a good thing,” he asid. Collaboration is another issue as many of these genes will be used together to form the basis of a test — “more and more it’s not a single gene that is diagnostic,” said Stephan. Efrat Kasznik, an intellectual property lecturer at Stanford University, said the patent system offers inventors a limited monopoly (20 years from filing) in return for public disclosure for their innovation. But not every finding can be patented. Similarly to a mathematical equation, the Supreme Court may rule that our human genes can never be owned. Dietrich Stephan will speak at HealthBeat, VentureBeat’s upcoming healthcare and innovation conference in San Francisco on May 20-21.
News Article | October 7, 2013
We share everything on Facebook: our family photos, intimate thoughts, relationship woes. Some of us even post our DNA. Thousands of Americans are sharing results of genealogy tests on social media sites like Facebook, even posting their entire genome on GitHub and GenomesUnzipped. But is it safe for patients to share DNA with a private company and then post test results on the Internet? That’s not so clear. Genealogy companies like 23andMe that analyze your genetic data encourage this kind of sharing, and they say that it is safe. For just $99, you can send 23andMe a sample of your DNA, and it will send you a full report, replete with information about your health and ancestry, and give you options to share the data online and connect with people you might be distantly related to. It can also be used by prospective parents to determine the risk that their future offspring will inherit a genetic condition. 23andMe’s goal, according to its marketing materials, is to grow to one million customers by the end of the year. The company is compiling the world’s largest “genetic data resource,” its chief executive Anne Wojcicki recently said, to “address unanswered questions related to the contributions of genes, the environment, and your health.” Collecting your data and analyzing it en masse with others’ data is part of the company’s fundamental mission. 23andMe spokespeople and former employees I spoke with did not seem all that concerned about the possible privacy risks of sharing DNA data online. “There are always risks, but people have to make their own decisions,” said 23andMe spokesperson Catherine Afarian in a phone interview. “People post all sorts of things without regard to consequences — it’s not an issue specific to genetics.” 23andMe’s basic premise, and its go-to response to privacy questions, is that people should have control over their own health data. “It’s not entirely risk-free [to share test results on Facebook],” Afarian admitted. “But again, our mission is to give individuals choice over how their information is shared.” But Dr. Dietrich Stephan, a human geneticist, and the founder of Silicon Valley Biosciences, is concerned that people aren’t making informed decisions. Stephan lists several “unforeseen consequences” of sharing genetic information on the Web. “If you were malicious, you could deny people health insurance or life insurance,” he said. But when you share your DNA online, it’s not just your own information you are sharing. Because you share many genes with members of your family, you are potentially sharing their information too. Even if you buy the argument that everyone should have control over their data, how about your brother’s data? Or your future offspring’s? Dr. Stephan has been embroiled in this debate for years. He started Navigenics in 2007, a 23andMe rival that was acquired by Life Technologies Corp in 2012 (the final sum for this acquisition was never disclosed, but sources tell me that Navigenics struggled with its revenues.) “It’s one thing to post your DNA on Facebook,” said Missy Krasner, executive in residence at Morgenthaler Ventures, who formerly worked at Google Health (Google Ventures and Google Corporate are investors in 23andMe) and consults at Box. “But you’re also invading the privacy of people you’re related to.”
News Article | May 13, 2014
Counsyl, a Silicon Valley company that screens prospective parents for their risk of passing on rare inherited diseases, has expanded its genetic testing service to assess your inherited risks for breast, ovarian, prostate, and pancreatic cancers. The expanded testing, which arrived on the heels of $28 million in new funding raised from Goldman Sachs and others, comes in the midst of a national discussion over the proper role of genetic testing in preventative medicine. Counsyl’s take is summed up by its new tagline — "It’s good to know." But is it? As the price of mapping an individual human genome has rapidly declined, companies have sought to profit by offering low-cost genetic tests to consumers through the mail and retail outlets. Last fall the Food and Drug Administration ordered 23AndMe to stop selling its DNA test kit out of concern that the company had marketed its products without necessary regulatory approvals. The crackdown spooked the industry, and the FDA followed up with similar letters to companies including Illumina, Decode Genetics, Navigenics, and Knome Inc. An industry that is changing quickly Founded in 2008, Counsyl has sought to differentiate itself from companies that scan your entire genome by offering people medical information they can take action on. Its tests require physician approval, and they’ve been designed to help patients make decisions about reproduction and mastectomies that could preempt breast cancer. The company has screened more than 250,000 people to date, mostly prospective parents who want to learn about their risk of passing on rare inherited diseases to a child. Now the company is offering patients the chance to learn about their inherited cancer risk in hopes of helping them detect any abnormalities early and take appropriate action. Some users of the service who are at high risk of breast cancer, for example, have elected to undergo double mastectomies. With insurance, the test costs between $150 and $300 — it’s $999 without — putting this form of screening within reach of more Americans than ever before. (In recent years, getting your genome scanned has cost $3,000 to $4,000.) Ramji Srinivasan, Counsyl’s co-founder and CEO, says the company’s focus on involving doctors both before and after the test mark an improvement over some of its rivals. After receiving test results through the company’s website, patients are given the option to talk to a licensed counselor. "We think it’s important for anybody to understand this kind of vital information," Srinivasan says. "But we want them to have the appropriate context and care during the process." The question is what constitutes appropriate context and care. There’s still no real consensus about which populations should submit themselves for genetic screening, how those results should be presented, and what actions patients should take as a result. "This is one of the biggest issues in thinking through how we’re going to translate all of the information coming from the mapping of the human genome into clinical and public health practice," says Barbara Koenig, a professor of medical anthropology and bioethics at the University of California at San Francisco. "How to avoid doing it prematurely. How to do it thoughtfully. How to enable people’s real choices. How not to cause harm." Those issues were up for debate in San Francisco last week in a series of lectures at UCSF with leading bioethicists. Wylie Burke, who leads the Department of Bioethics and Humanities at the University Of Washington, outlined a number of concerns that the medical community is working through when it comes to genetic testing. "The question is begged whether it’s okay for consumers to just buy whatever they want," she said. "I think it’s first of all a safety issue, and it’s perhaps a truth-in-advertising issue." Margaret Lock, a medical anthropolgist at McGill University, described a study of people who had undergone genetic screening for their likelihood of developing Alzheimer’s disease. It found that many patients expressed confusion about what their results meant, and that few of them made changes to their lifestyle that could reduce their risk of developing the disease. Counsyl’s results are delivered via a secure website with a clean, modern design heavy on white space. The full report on your genetic screening contains a list of diseases and the relative risk that either you or your child will contract it, expressed as a fraction of the population: "less than 1 in 210,000," for example. Clicking on a disease will offer you more information on the disease’s symptoms and how they are treated. It can be difficult, looking at the table of results, to know what to make of the fact that you have (say) a 1 in 3,600 chance of passing cystic fibrosis on to your child. Counsyl says that’s where its genetic counselors come into play. But that raises questions of its own. Taking up doctors’ time to review test results when the patient has no basis for concern could create what Burke calls "a raiding the commons problem." Surely, a large number of patients will benefit from learning the results of their genetic makeup. But doctors will have to learn how to balance their existing responsibilities with the need to review the results of patients’ genetic screening tests. Most sensitively, there are the issues around how genetic information is used in reproduction. Counsyl’s genetic counselors walk patients at high risk of passing on inherited diseases through a range of options: in-vitro fertilization, so-called "watchful waiting," adoption, and abortion. But as the power of genetic screening to predict other traits and conditions improves, issues around eugenics are primed to explode in the public discourse. "I don’t think we have a societal consensus about that," Burke said. "That’s clearly something where we need public deliberation." Counsyl isn’t what the FDA calls a "direct to consumer" product — it requires a doctor’s note to purchase the test. And the founders say their sole focus is to develop tests that improve patient outcomes. "Our love is for useful clinical information — the things that can actually impact patients’ decisions," Srinivasan says. That’s one reason the company tests for specific risks instead of scanning the patient’s entire genome. "We would not want to offer a test like that — that has no clinical utility," he says. But as testing improves, our opinions about which tests have "clinical utility" may change rapidly. Tests like the ones Counsyl provides are proving a boon to thousands of people looking for information about potentially fatal conditions. But they’re also raising questions that remain very much unanswered.
News Article | April 18, 2013
The business of DNA is undergoing a revolution. We can already get our genes scanned for the bargain-basement price of $99. Soon we’ll be able to have entire genomes sequenced for less than the cost of a MacBook Air. That’s huge considering that not so long ago it cost billions of dollars to map a single genome. But the ability of scientists, doctors and companies to tell us how our genes might impact our health now hinges on a case being debated by the U.S. Supreme Court, the infamously drawn-out Association for Molecular Pathology v. Myriad Genetics. The case dates back to a 2009 lawsuit filed by the American Civil Liberties Union and centers on the question of whether genes — those snippets of DNA that encode the proteins inside cells — can be patented. The ACLU and the scientists, advocacy organizations and patients it represents say no because a gene is something that exists in nature, just like a leaf, an oxygen molecule or gold. Myriad Genetics told the Court its inventors had created a new, never-before-seen molecule. Some of the justices don’t seem to buy Myriad’s argument, sparking some hope in the genomics and personalized medicine communities that when the Court finally decides the case — probably in late June — they’d have reason to celebrate. “What we’re arguing about is really the future of medicine and either accelerating it or slowing it down,” says Dietrich Stephan, the CEO of SV Bio and founder of Navigenics. “[Gene patenting] turned into this quagmire that was holding the field back. “We need to be able to instantaneously deliver that information to [patients] and their doctors and not go through all these crazy hoops of paying the license holder.” The real value and potential for innovation, experts say, comes after genes or gene mutations are identified, and that genetic insight is then applied to a new process, method or algorithm. In most cases, those new processes, methods or algorithms would still be patentable, but not the underlying genetic code. Diagnostic and therapeutic companies would compete on the quality and price of their tests instead of having a monopoly on the entire pipeline, as Myriad does now with its patents on BRCA1 and BRCA2, two genes associated with early-onset breast and ovarian cancers. Women who want to be tested for these genes have to take Myriad’s test, which can cost several thousand dollars. As it stands now, the patent-happy U.S. Patent and Trademark Office has doled out thousands of gene patents since the early 1980s, many of which cover human genes. Myriad Genetics is not the only organization that holds these kinds of patents. 23andMe, Incyte Genomics, Genentech, Harvard, MIT and the University of California are but a few of the institutions that have held or continue to hold gene patents. Some of the patents don’t require licensing fees and are pretty open. Others are locked up tight. Run afoul of the wrong gene patent, and you can expect a lawyer to get involved. Myriad has sent researchers cease-and-desist orders and Harvard and MIT have filed lawsuits. All of which hampers the progress of scientific research, says Rochelle Dreyfuss, a professor at the New York University School of Law who specializes in intellectual property law and science. “In order to do a full sequence for a person, you might have to get permission from all of them,” says Dreyfuss.”That’s a lot of different people, and any one person could just say no.” That defeats the purpose — and potential — of whole-genome sequencing, and in a way, robs patients of their right to know their own genetics, a point the Association for Molecular Pathology has made in the past, says Dreyfuss. Their argument is that people have a First Amendment right to know the information inside their own bodies, but “the courts have never ruled on that issue,” she said. Like the pharmaceutical industry, Myriad and others argue that without the ability to patent genes, patients might be worse off. Lacking financial incentives, companies might not be willing to put in the years and millions of dollars it can take to make these kinds of advances, a point some of the Justices seemed to recognize this week. Whether that’s true or not is debatable. “In the drug space, people have very clearly figured out that the most airtight patents are around the molecules themselves,” says SV Bio’s Stephan. “Even if that molecule targets a gene, no one would argue that you’d need to have the gene patented in order for that patent to stand on its own.” We should take that model and apply it to diagnostics, he says, where the patentable discoveries are not genes, but new test kits that probe for genetic conditions or predispositions to certain diseases better and faster than previous technologies. That’s how you foster innovation and how you assuage the field that the market is going to be okay, Stephan argues. Whatever the Court decides this summer, one thing is clear: this case is only the beginning of the debate around who owns what genetic information, says Stanford’s Drew Endy, a bioengineer and an advocate of open-source biotechnology. In the future, scientists, doctors, companies and lawyers will have to grapple not only with gene sequences, but “what you can use the sequence to do.” That, he says, takes us into the brave new world of genetic copyright law, and if the music and software industries have taught us anything, it’s going to be a very long, uncomfortable ride.
News Article | December 7, 2013
In late November, Google-backed genetics-testing company 23andMe received a warning letter from the U.S. Food and Drug Administration. The agency demanded in very public manner that the company stop selling and marketing its $99 testing kit due to concerns about the clinical and analytical validity of 23andMe’s product. After much internal debate, 23andMe appears to have given in to federal regulators. The company agreed Friday to stop issuing health results to consumers who purchased the test after Nov. 22, although these customers can still receive ancestry information and raw data. That’s a significant concession, as the “health reports on 254 diseases and conditions,” which 23andMe claims to provide, sets it apart from dozens of genealogy providers. Many of these customers will have the option to request a full refund. In the first in-depth interview with the press since the FDA’s letter, 23andMe spokesperson Catherine Afarian told VentureBeat that the company’s decision will shape the entire genetics industry, which she believes is the “future of medicine.” Fans had hoped that 23andMe intentionally dropped the ball with the feds, perhaps to spark a national debate and a court case. However, Friday’s decision to comply with the FDA indicates that this wasn’t some sort of strategic ploy for attention. In fact, the company is eager to work with the FDA to clear any hurdles and start selling its test as quickly as possible. “Our mission is unchanged,” said Afarian. “We are not going anywhere, although we recognize that the FDA process will take time.” 23andMe founder and chief executive Anne Wojcicki recently echoed this sentiment in a blog post, where she claimed to “stand behind the data.” It’s impossible to predict how long it will take for 23andMe to resume its full service, as this case is unprecedented. Afarian seems confident that it’s inevitable, although some experts are skeptical that 23andMe can bounce back. She also implied that the company might start reintroducing aspects of its health test in stages. Some aspects can be addressed quickly; others will require more thorough discussion. Afarian hinted at a silver lining, while recognizing that a strained relationship with the FDA is far from ideal. 23andMe appears to be reaching a kind of detente with the agency, and may soon market itself as the “only FDA approved” direct-to-consumer genetic company. The company may eventually benefit from all the press attention and interest in genetics, even the negative kind. 23andMe hit the headlines for a number of reasons. First and foremost, it’s the best-known remaining direct-to-consumer company in the genetics field, which makes it a high-level target for the feds. When the company failed to communicate effectively with regulators, the FDA issued its severe warning. I would argue that the company shot itself in the foot with its aggressive advertising campaigns on television networks and social media sites. 23andMe appears to have invested too much of its time and efforts on marketing — and too little on its dealings with policymakers and regulators. The company has plenty of cash at its disposal. In the past five years, 23andMe has raised repeat rounds of funding from billionaire investors like Yuri Milner and Sergey Brin, as well as a number of high-profile venture firms (Brin is the soon to be ex-husband of 23andMe founder Wojcicki). 23andMe has not been secretive about its intention to gain more customers. After fundraising events, spokespeople often reiterate the goal to reach “one million souls” and gather a massive database of genetic information, which it will use for the purposes of science and research. From the FDA’s vantage, that is one million people who might receive inaccurate information about their health. Moreover, 23andMe has expanded its services in the past few years, presumably without clearing these changes with the FDA. 23andme recently begun testing various mutations of genes that indicate a woman might have a high risk of getting breast or ovarian cancer. A false positive on that test could cause a woman to undergo a needless mastectomy, the FDA claims. The FDA is particularly concerned that 23andMe’s results could be misinterpreted by consumers, who fail to realize that it has a probability or degree of risk. The company can’t definitely tell you if you’ll develop Parkinson’s in the next 10 years; it can only suggest that the likelihood is high, relative to other people. 23andMe proved reluctant to respond to questions about why exactly it did not comply with the FDA in a timely fashion. It’s a sensitive issue, given that the company is currently working closely with the agency to map out a course of action in the coming months. However, Afarian did say that the warning letter has been widely misinterpreted by the press. The FDA fears that the test results are not clinically accurate, as it has not received sufficient proof according to its standards. However, this does not necessarily mean that the proof does not exist. 23andMe claims to have good analytic accuracy. “It’s not that the data isn’t accurate,” said Afarian. “It’s that we didn’t complete the FDA’s substantiation studies on time.” This particular issue is a tricky one. Hank Greely, a professor at Stanford’s Center for Law and the Biosciences, said the term “accuracy” is highly complex. He argues that 23andMe’s analytic accuracy is good, but it lacks clinical validity, meaning that the results should not be used to diagnose patients. “I’m also confident that almost all of the health conditions they report have poor to terrible clinical validity,” he said. “One can’t really believe the health consequences will be as advertised.” It remains to be seen whether 23andMe will need to adapt its model. The company currently sends results straight to you, and bypasses a medical professional or genetic counselor. This is an important part of the company’s mission; Wojcicki has frequently stressed that it’s empowering to receive data about your health. Greely believes that interpretation is everything. His major concern with 23andMe is that consumers aren’t adequately equipped or informed to interpret this information — the space is still so nascent that even the experts are constantly learning. In the past, genetic information would typically be shared with a physician, who would walk the patient through the results. In the near-term, the FDA may insist on an approach that brings far more experts into the equation.
News Article | January 18, 2013
InVitae, Led by Randy Scott, Goes ‘All-in’ For Genomic Diagnostics You could call Randy Scott an E.F. Hutton for the genomics business. People listen when the co-founder and former CEO of Genomic Health talks. And Scott isn’t just talking. He’s gone “all-in,” putting his time, and a significant amount of his own money, into a new San Francisco company called InVitae. The plan is to develop a kind of dream diagnostic test that would have been quite unrealistic a couple years ago. “We want to aggregate all the world’s genetic tests into a single assay, for less than the cost of a single assay today,” Scott says. He adds: “It’s kind of outrageous, but it’s eminently doable.” InVitae—which is Latin for “in-life” and pronounced In-VEE-tay—has stayed stealthy in its early days. But that’s changing this year, as the company has gotten certified to run a central diagnostics lab and it’s gearing up for its initial commercial push. The company, which combined assets last year from Redwood City, CA-based Genomic Health (NASDAQ: GHDX) and Locus Development, has pulled in $37 million to date from investors that include Genomic Health, Thomas McNerney & Partners, and Scott himself. Scott started moving in this direction back in February, when Genomic Health formed InVitae as a new subsidiary with him as CEO. Six months later, in August, he jumped ship completely for the new company, resigning his Genomic Health board seat. InVitae, which took in $30 million of investment in November, has grown quickly to assemble a team of 40 employees. “Having done startups before, I’m a big believer that you’ve got to be all-in,” Scott says. “If you want to start something from scratch and compete in today’s world of healthcare, it should consume 150 percent of your time.” The goal of InVitae, in its early days, is to help geneticists to look broadly for rare, inherited genetic disorders (aka Mendelian disorders). There are thought to be about 1,500 of these rare conditions, which are often hard to diagnose. Sometimes these diseases prompt what Scott calls “medical odysseys” and are only diagnosed after physicians take stabs in the dark by running existing single-gene or multi-gene tests that can only answer narrow questions, and cost several hundred dollars apiece. InVitae’s plan is to start small, and build from there. While the usefulness of information from consumer-oriented genetics companies (23andMe, Navigenics) has long been questioned in the medical community, InVitae has instead … Next Page »