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For the first quarter 2017, Invitae reported a net loss of $26.9 million, or a $0.64 loss per share, compared to a net loss of $25.6 million in the first quarter of 2016, or a $0.80 loss per share. Total operating expenses for the first quarter of 2017, excluding the cost of goods sold, were $28.3 million compared to $23.5 million in the first quarter of 2016. First quarter operating expenses included $5.3 million in non-cash expenses, including depreciation and equity compensation. Cash used in operating activities in the first quarter 2017 amounted to $22.0 million, as compared to $24.0 million in 2016. At March 31, 2017, cash, cash equivalents, restricted cash, and marketable securities totaled $101.5 million, $4.2 million more than the comparable amount as of December 31, 2016, reflecting net proceeds of approximately $39.7 million, resulting from a loan agreement secured in March 2017 and the subsequent extinguishment of $12.1 million in previously outstanding debt. "We are winning the race to scale in our industry," said Sean George, chief executive officer of Invitae. "By providing more affordable genetic testing, we are opening up access for patients to address a wide spectrum of health issues, from rare diseases to common cancers, fueling increased utilization of our expanding platform. Now in-network with a majority of major payers, we expect the rise in demand for Invitae's services in the first quarter will translate into significant revenue growth throughout the remainder of the year." Webinar and Conference Call Details: Management will host a webinar and conference call today at 4:30 p.m. Eastern / 1:30 p.m. Pacific to discuss financial results and recent developments. The dial-in numbers for the conference call are (877) 201-0168 for domestic callers and (647) 788-4901 for international callers, and the reservation number for both is 11040513. The live webinar and conference call may be accessed by visiting the investors section of the company's website at ir.invitae.com. A replay of the webinar will be available shortly after the conclusion of the call and will be archived on the company's website. About Invitae Invitae Corporation's (NYSE: NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Invitae's goal is to aggregate most of the world's genetic tests into a single service with higher quality, faster turnaround time, and lower price than many single-gene and panel tests today. The company currently provides a diagnostic service comprising approximately 1,500 genes for a variety of genetic disorders associated with oncology, cardiology, neurology, pediatrics, and other rare disease areas, as well as a clinical whole exome analysis service. Additionally, the company has created a Genome Network to connect patients, clinicians, advocacy organizations, researchers, and therapeutic developers to accelerate the understanding, diagnosis, and treatment of hereditary disease. For more information, visit our website at invitae.com. Safe Harbor Statements This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the company's expectations regarding full-year 2017 revenue; the company's belief that it is winning the race to scale in its industry and opening up access for patients to address a wide spectrum of health issues, which is leading to increased utilization of its expanding platform; that being in-network with a majority of major payors and the rise in demand for its services in the first quarter will lead to significant revenue grow throughout the remainder of 2017; that additional payer contracts will be executed during the remainder of 2017; that exome testing can help clinicians make or confirm a diagnosis and develop an appropriate medical management plan; and that research continues to point to the broader utility of genetic information and precision of the company's services. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to develop and commercialize new tests and expand into new markets; the risk that the company may not obtain or maintain sufficient levels of reimbursement for its tests; the company's inability to raise additional capital on acceptable terms; risks associated with the company's ability to use rapidly changing genetic data to interpret test results accurately, consistently, and quickly; risks associated with the company's limited experience with respect to acquisitions; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Annual Report on Form 10-K for the year ended December 31, 2016. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements. NOTE: Invitae and the Invitae logo are trademarks of Invitae Corporation. All other trademarks and service marks are the property of their respective owners. The condensed, consolidated balance sheet at December 31, 2016 has been derived from the audited consolidated financial statements at that date included in the company's annual report on Form 10-K for the year ended December 31, 2016. To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/invitae-exceeds-26000-samples-accessioned-reports-revenue-of-103-million-and-net-loss-of-064-per-share-in-first-quarter-2017-300453463.html


News Article | May 12, 2017
Site: www.prnewswire.com

SAN FRANCISCO, May 12, 2017 /PRNewswire/ -- Invitae Corporation (NYSE: NVTA), one of the fastest growing genetic information companies, today announced that Sean George, chief executive officer of Invitae, will present at the UBS Global Healthcare Conference on Monday, May 22, 2017 at 11:00 a.m. Eastern / 8:00 a.m. Pacific in New York City. The live, listen-only webcast of the presentation may be accessed by visiting the Investors section of the company's website at ir.invitae.com. A replay of the webcast will be available shortly after the conclusion of the presentation and will be archived on the company's website.


News Article | May 16, 2017
Site: www.prweb.com

After receiving an overwhelming response to last year’s call for entries, Genome magazine’s Code Talker Award honoring genetic counselors is back for 2017. This unique award spotlights the impact of genetic counselors on the health and lives of their patients. Nominations are made via essay, with finalists and winner to be presented at the 2017 National Society of Genetic Counselors (NSGC) Annual Conference on September 15, 2017, in Columbus, Ohio, at a gala ceremony hosted by emcee Julia Sweeney. The Code Talker Award is the first of its kind for the field of genetic counseling and is sponsored by Invitae, one of the fastest growing genetic information companies. The magazine is now seeking nomination essays from patients, caregivers, and peers detailing the compassion, expertise, and support a genetic counselor has demonstrated and the resulting impact that their care and guidance had on a patient or his or her family. Essays will be accepted through June 1, 2017. Nomination essays can be submitted at http://genomemag.com/codetalker/. “After struggling for a diagnosis [for] so many years, and Allison putting up with me and my case for so long, it felt amazing to publicly 'yell from the rooftops' about how thankful I was for her,” says Melissa Bruebach, who wrote a moving essay nominating her genetic counselor for the 2016 Code Talker. “The whole moment was magic,” says Bruebach. “She got the recognition she deserved, I got to tell her how grateful I was for her and the genetics team at Lurie Children’s Hospital, and I got the chance to hopefully inspire hundreds of current and prospective genetic counselors.” After reviewing the submitted essays, the Genome team will assemble a collection of the most impactful stories into the Code Talkers book as well as announce three finalists for the award itself. Finalists, their essayists, and their guests will receive round-trip airfare and a two-night stay in Columbus, where they will be honored at an awards ceremony at the conference. The essays will be read aloud, and one genetic counselor will be named Genome’s Code Talker of the Year. “I’m hopeful this award and the many powerful stories it spotlights will continue to highlight the exciting, challenging, and meaningful career of genetic counseling,” says Allison Goetsch, MS, CGC, the winner of the 2016 Code Talker Award. “It is an honor to be in the same profession, working towards the same goals, with so many like-minded, passionate, and dedicated individuals.” At the end of the ceremony each attendee will receive a copy of the Code Talkers book. The book serves as an enduring testament to the important role genetic counselors play in people’s lives and helps patients, genetic counselors, and families all understand the importance of genetic counseling in healthcare today. “I was really struck by the emotions conveyed in each story. Each patient was so genuinely thankful for his or her genetic counselor and the genetic counseling journey,” says Anna Victorine, MS, CGC, a 2016 Code Talker Award finalist. “It was clear from reading the stories that genetic counselors, as a whole, really and truly care about their patients. The Code Talkers book is such an amazing tribute to the profession and our value to our patients.” For more information about Genome’s Code Talker Award, visit genomemag.com/codetalker About Genome magazine Genome is a national consumer magazine (300,000+ circulation) that explores the complexity of genomics and personalized medicine along with the associated ethical, social, and legal issues — in a relevant and easy-to-understand manner for a lay audience. Its quarterly publication is for the public at large: patients, family, caregivers, and healthcare professionals on the education frontlines. Genome’s mission is to empower readers to make informed health decisions that will help them live better and longer. For more information visit genomemag.com. About Invitae Invitae Corporation's mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Invitae's goal is to aggregate most of the world's genetic tests into a single service with higher quality, faster turnaround time, and lower price than many single-gene and panel tests today. The company currently provides a diagnostic service comprising approximately 1,500 genes for a variety of genetic disorders associated with oncology, cardiology, neurology, pediatrics, and other rare disease areas, as well as a clinical whole exome analysis service. Additionally, the company has created a Genome Network to connect patients, clinicians, advocacy organizations, researchers, and therapeutic developers to accelerate the understanding, diagnosis, and treatment of hereditary disease. For more information, visit our website at invitae.com. About the National Society of Genetic Counselors (NSGC) NSGC is the leading voice, authority and advocate for the genetic counseling profession, representing more than 3,500 health care professionals. The organization is committed to ensuring that the public has access to genetic services. For more information visit NSGC.org.


News Article | May 22, 2017
Site: www.prweb.com

Food Allergy Research & Education (FARE) today announced the launch of the FARE Patient Registry, a vital tool that will harness the power of patient data to accelerate research toward revealing the causes of food allergy, uncovering why food allergy rates have increased in recent years and identifying which treatments might be most effective for individual food allergy patients. Patients with food allergies or relatives of children with food allergies are encouraged to participate in the registry and help advance scientific discoveries by anonymously sharing their medical histories with scientists and others. This is a simple step that will provide critically important data to assist researchers in a number of ways and help individuals track their own clinical histories. FARE’s Patient Registry will collect and store detailed, de-identified information about people with diagnosed food allergies. Among its many uses, the registry database will be a valuable source of data on food allergy prevalence, demography, management and outcomes that can be accessed by researchers, clinicians, caregivers, pharmaceutical companies and others. In addition to data provided by patients, the registry will house information from doctors and hospitals, including the FARE Clinical Network, a collaborative network of 27 research and clinical care institutions across the country. “Food allergies are a life-threatening medical condition for which we have no FDA-approved therapies,” said James R. Baker, Jr., M.D., CEO and chief medical officer of FARE. “The lack of accurate, large scale data for patients with food allergies is a problem that we aim to solve with FARE’s Patient Registry, a valuable new tool that will help us advance research on several fronts to develop and test new treatments and improve patient care. The 15-20 minutes that it takes for each individual to participate has the potential to make a big impact.” Food allergy is a serious and growing public health issue that affects approximately 15 million Americans, including 1 in 13 children, or roughly 2 children per classroom. Allergic reactions to food can be severe or even deadly. There is currently no cure for food allergies; strict avoidance of the problem food(s) is the only way to prevent reactions. The FARE Patient Registry leverages the Invitae Genome Network’s platform to enable permission-based sharing of patient data to advance the understanding and treatment of inherited health conditions. “We're pleased FARE chose our platform for its food allergy patient registry to create a safe and secure way for patients to share their health experiences and be connected to the latest research, treatments, and education,” said Kyle Brown, of the Genome Network at Invitae. “The information gathered through the registry may help contribute to the understanding of these life-threatening allergies and the development of much-needed treatments for patients.” FARE’s future plans for the Patient Registry include a repository of biological samples collected from food allergy patients at participating centers in the FARE Clinical Network. DNA, RNA, biopsy and serum samples will speed the discovery of serum biomarkers, genetic risk factors and environmental triggers of food allergy. Data will be collected in a fully FDA-compliant manner, which will assist FARE in its advocacy efforts for regulatory approval of treatments. Participating patients will be able to use the registry as a food allergy management tool to help them keep records of their allergic reactions, track the progression of their disease, and connect with clinical trials in their area. A patient would have the option of sharing this data with his or her healthcare providers. To sign up and learn more, visit foodallergypatientregistry.org. ABOUT FARE Food Allergy Research & Education (FARE) works on behalf of the 15 million Americans with food allergies, including all those at risk for life-threatening anaphylaxis. This potentially deadly disease affects 1 in every 13 children in the U.S. – or roughly two in every classroom. FARE’s mission is to find a cure for food allergies, and to keep individuals safe and included. We do this by investing in world-class research that advances treatment and understanding of the disease, providing evidence-based education and resources, undertaking advocacy at all levels of government and increasing awareness of food allergy as a serious public health issue. For more information, please visit http://www.foodallergy.org and find us on Twitter @FoodAllergy, Facebook, YouTube and Pinterest.


News Article | May 25, 2017
Site: news.yahoo.com

Date Published: 2017-05-25 Written by Ophir Gottlieb * This is a snippet from a CML Pro dossier originally published on 5-25-2017. LEDE Spotlight Top Pick InVitae Corp (NYSE:NVTA) has seen its stock decline and one culprit was a recently published article “How a cancer test maker started by former Twitter, Google execs hopes to change the world” that has caught the market off guard. We encourage everyone, in all aspects of life, to recognize the difference between news and knowledge. STORY This is it. This is why you subscribe to CML Pro. The main stream media doesn’t have the vocabulary to understand breaking technology. Even further, the top analysts that represent the wealthiest 0.1% of Americans have no interest in sharing the data they are keenly aware of. In fact, it’s the information asymmetry they created that has generated immense wealth to the benefit of the top 0.1% at the expense of the many. Friends, what has happened with Invitae relative to this news story is a wonderful example of all of this. FIRST In the story “ How a cancer test maker started by former Twitter, Google execs hopes to change the world”, we get these snippets: With its $249 test to screen for 30 genes linked to eight hereditary cancers, Color Genomics Inc. has pushed to detect cancer earlier but also take price away as a barrier. Out-of-pocket payments are relatively painless in Color’s case because of its test’s $249 price tag. Other genetic disease tests can cost more: Ones from San Francisco-based Invitae Corp. (NYSE: NVTA), which covers a wide range of diseases including and beyond cancers, can cost upwards of $475 if solely paid for by an individual; its list price is $1,500 per clinical area. This sounds like a direct competitor but for less, and faster. But it isn’t. SECOND We have a great relationship with Invitae. We have published one-on-one discussions with both the CFO and CEO in separate dossiers. We also speak with the investor relations team. Here is the email exchange we shared, and I warn you, when you read this you may feel a little cheated by the article we referenced above. First, our email to Invitae: “Hi Kate, Wall Street appears shaken by the recent Color Genomics coverage by large insurers as well as large corporate accounts. Can you help me navigate this news as it pertains to Invitae? My very best, Ophir” And now, their full response, with analysis to follow. We have added our own bolding to the email which was not included in the original. Hi Ophir, The news is a bit misleading. As you know, Color shares our goal of removing cost as a barrier to access to genetic information. We can all applaud that. However, we have remained committed to quality in that quest, specifically diagnostic grade quality to ensure patients are accessing the most meaningful and actionable information to make informed choices regarding their health and care. Color offers a much more limited cancer testing panel (30 genes to our >20,000). So far, they haven’t invested the capital required to produce a true diagnostic grade result. Their test lacks the technological advancements needed to capture difficult variants and we have certainly heard accounts of missed variants or misclassified variants. So, while the price point is splashy from a news perspective and ideologically aligned, it isn’t really a competitor amongst clinicians and genetic counseling seeking high quality testing for diagnostic purposes. On recent coverage from large insurers, my understanding this is limited to specific geographical regions and limited test codes. So while they stated they are in network for some of the largest providers, it appears to be only on a single state or limited state basis for BRCA1&2. They don’t have any preferred status over Invitae at any network. In the end, as with much other new in the area, we are encouraged in interest and any additional visibility that is brought to bear on accessibility and utility of genetic testing, but we really don’t see Color as a competitive threat. Happy to discuss further if that would be helpful. Thank you and kind regards, Kate Kate McNeil Communications and Investor Relations www.invitae.com Yep, that was real. That article about Color Genomics was in reference to a company that maps 30 genes. This is where Invitae is: Yes, the comparison here is 30 to that 20,000 number. Or if you prefer to take out the exome, then the company is at over 1,500 genes. But even further, the idea that a company mapping 30 genes presents a feasible diagnostic tool for serious clinicians and genetic counseling is a little hard to believe. Invitae is trying to bring genetic testing, the kind that will actually change the world, to the everyone. In pursuit of that goal, the company is succeeding, though it is very early. Here are a few more charts for context, before we continue: First, the number of covered lives (insured): Next we turn to volume by billable report: And the economies of scale in specific can be seen in the dipping cost of goods sold (COGS) per sample: MORE INFORMATION Invitae’s genetic tests are not designed to be printed on colorful paper and framed on the wall, rather, this is the company’s goal. The entire Top Pick dossier is available here: The Company Trying to Become the Amazon of Genomics. We’ll start backwards, with patients that do not meet a diagnostic criterion for genetic testing, rather they are curious to learn about their health: The Invitae Genetic Health Screen tests are intended for use by patients who do not meet diagnostic criteria for genetic testing but who wish to use genetic information to help guide their health decisions. The tests can only be ordered by a physician and provide diagnostic-grade genetic analysis from board-certified medical geneticists in a proactive test. The program has been available at select clinical pilot test sites for more than a year, with the addition of further sites underway throughout 2017. In English, you and I, if we so desire, can now go ahead and get genetic tests done on ourselves, even if for curiosity or prevention, for the same price as Invitae’s normal tests. And then of course, there is genetic testing by a specific diagnostic criterion. While the company has a pretty large focus in oncology right now, here’s one for Spinal Muscular Atrophy (SMA): SMA is an autosomal recessive disorder and the second leading genetic disease in infancy behind cystic fibrosis affects. SMA affects approximately one in every 10,000 infants, while one in 50 people is a carrier for the disorder. The majority of SMA cases are caused by loss of the gene SMN1, with variation in the number of copies of related gene, SMN2, playing a role in mitigating the severity of the disease. Loss of SMN1 results in the absence of a protein necessary for the normal function of nerves governing movement. Without adequate nerve function, patients with SMA experience progressive muscle weakness and atrophy, impacting the ability to crawl, sit, or stand and eventually to breathe or swallow. Accurate testing of both genes is critical for the diagnosis and treatment of SMA. Testing for the absence of functional SMN1 is the basis of diagnosis and can distinguish the condition from other neuromuscular diseases such as muscular dystrophy. Understanding the number of copies of the SMN2 gene can provide prognostic information and help guide therapeutic choices and clinical trial participation. However, due to the similarities between the two genes, testing is technically challenging and reliably accurate tests have not previously been widely available. Invitae’s unique approach leverages advanced next generation sequencing and a customized bioinformatics solution to accurately identify sequence changes and copy number changes in both genes from a single test. Analysis of SMN1 and SMN2 is now available from Invitae as a stand-alone test, and it has been added to a number of the company’s comprehensive neuromuscular and neuropathy panels, allowing physicians the ability to test for SMA alongside a number of other neurological disorders for no additional cost. While Invitae is building out its menu of tests, a lot is already available. Here is another snippet, with our emphasis added. Based on feedback from pilot sites and evaluation of new data, the original menu offered in the program has been expanded to include additional genes linked to cancer, cardiovascular conditions and other genetic disorders. The panel now provides information on 139 medically actionable genes, and the company also offers sub-panels focused only on cardiovascular conditions or cancer to give patients options for gathering genetic information that can inform health decisions, such as increased screenings or treatment choices. But, for now, this company is finding a market with a need and an appetite within oncology. Here is total revenue (TTM) through time: Revenue (TTM) for Invitae is now $31.4 million. Last year it was $11.1 million, which is a 183% one-year change. But there’s more. PROJECTIONS Invitae Corp has forecasted revenue at the $55M-$60M by year end and then another double for 2018, putting them at ~$115M by the end of that year. Further, the company has forecast that Q4 2018 will be its first cash flow positive quarter. If those projections are hit, and it’s just an if, we will be looking at a company with $115M in revenue, cash flow positive operations, revenue growing at 100% in back-to-back years. The current market cap is about $380 million. We’re not in the business of making outright valuation calls, but whatever the number, this company should be well above the $380M market cap if those hurdles are met and we see the market cap much closer to the $1 billion level (8x sales). That would be a stock price in the neighborhood of $22-$23. That’s all predicated on an if, so we’re not saying, “hey the stock market is wrong,” not at all, we’re just pointing out what the company’s projections are and what that could mean to valuation. THE FUTURE The company is commercializing its exome product with a focus on the undiagnosed disease market. That is, those people who have had to suffer numerous tests and no specific diagnosis - the goal is get them off that awful path and onto a path for a cure and a proper diagnosis. There is a pediatric focus with the exome as well, but broadly for complex disorders that cannot be diagnosed, whole exomes find the diagnosis ~25-40% of the time. This was an image in their slide show: And here is more from the company: The Invitae Boosted Exome offers high-quality testing tailored to each patient’s unique clinical situation. Exome testing can help clinicians make or confirm a diagnosis and develop an appropriate medical management plan, which is especially important in pediatric and rare disorders for which early diagnosis is essential. Invitae’s high-quality exome testing uses next-generation sequencing (NGS) technology to analyze the coding regions, called exons, of up to 20,000 genes. The vast majority of known disease-causing DNA changes are located within exons or in the DNA immediately flanking the exons; Invitae’s Boosted Exome assesses such changes with customized bioinformatics and rigorous interpretation in order to pinpoint a genetic diagnosis. As we noted in our Top Pick dossier and our conversations with CFO and CEO, the company also noted that Cardiology, Neurology, and the treatment of rare diseases – via large biotechs – are still untapped markets while also noting that their current markets in oncology and hereditary breast cancer-related disorder tests, is still growing very rapidly. RISK While all of this is amazing, we have and continue to note the risks to Invitae, both as a going concern and as an investment. This company is unlike any other Top Pick and certainly unlike any Spotlight Top Pick - it actually has existential risk. The company could fail - not in the sense that the stock drops and it’s a lousy investment, but in the sense that it could go away - as in, zero. However, if Invitae fails, it will not be due to companies that map 30 genes, make splashy headlines from irresponsible journalists that make false comparisons. These are not competitors to Invitae’s business – which is focused on (1) a serious diagnosis of often times life threatening rare diseases and (2) a larger view of the world that sees nearly every person on Earth using genetic testing from birth to death. This is a world where pre-emptive care saves lives before diseases take shape. A world where risks are identified early and treatments are pinpointed, down to the individual person. Where people no longer suffer through years of agonizingly imperfect diagnoses, where doctors are finally empowered with the information they need to heal and prevent, rather than to react and to guess. This is not a world threatened by a fun website. CONCLUSION The media is a for profit business. That’s perfectly fine, we are too. But, when the media covers stories in finance, technology, medicine, politics or any other realm, be careful about what you read – the intentions can be very good, but the result can be very bad. In the world of health technology, we highly recommend reading Christina Farr, formerly of Fast Company and now of CNBC. We reiterate the risks associated with Invitae but maintain our bullish thesis and our Spotlight status on the company. We encourage everyone, in all aspects of life, to recognize the difference between news and knowledge. The author is long shares of InVitae Corp (NYSE:NVTA) and may add shares within the next 72 hours. Thanks for reading, friends. WHY THIS MATTERS It’s finding the gems like Invitae that will turn into the ‘next Amazon,’ or 'next Apple,’ where we have to get ahead of the curve. This is what CML Pro does. Each company in our 'Top Picks’ has been selected as a future crown jewel of technology. Market correction or not, recession or not, the growth in these areas is a near certainty. The precious few thematic top picks for 2017, research dossiers, and alerts are available for a limited time at a 80% discount for $19/mo. Join Us: Discover the undiscovered companies that will power technology’s future. Thanks for reading, friends. Legal The information contained on this site is provided for general informational purposes, as a convenience to the readers. The materials are not a substitute for obtaining professional advice from a qualified person, firm or corporation. Consult the appropriate professional advisor for more complete and current information. Capital Market Laboratories (“The Company”) does not engage in rendering any legal or professional services by placing these general informational materials on this website. The Company specifically disclaims any liability, whether based in contract, tort, strict liability or otherwise, for any direct, indirect, incidental, consequential, or special damages arising out of or in any way connected with access to or use of the site, even if we have been advised of the possibility of such damages, including liability in connection with mistakes or omissions in, or delays in transmission of, information to or from the user, interruptions in telecommunications connections to the site or viruses. The Company makes no representations or warranties about the accuracy or completeness of the information contained on this website. Any links provided to other server sites are offered as a matter of convenience and in no way are meant to imply that The Company endorses, sponsors, promotes or is affiliated with the owners of or participants in those sites, or endorse any information contained on those sites, unless expressly stated.


News Article | April 17, 2017
Site: www.eurekalert.org

A recent survey of over 2,000 women newly diagnosed with breast cancer found that half of those who undergo bilateral mastectomy after genetic testing don't actually have mutations known to confer increased risk of additional cancers, according to a study by researchers at the Stanford University School of Medicine and four other U.S. medical centers. Instead the women had what are known as variants of uncertain significance, or VUS, that are often eventually found to be harmless. A bilateral mastectomy is a surgical procedure in which both of a woman's breasts are removed after a diagnosis of cancer in one breast. The finding highlights the need for genetic counselors to help both patients and physicians better understand the results of genetic testing intended to determine a woman's risk for cancer recurrence or for developing a separate cancer in her ovaries or unaffected breast. "Our findings suggest a limited understanding among physicians and patients of the meaning of genetic testing results," said Allison Kurian, MD, associate professor of medicine and of health research and policy at Stanford. "Clinical practice guidelines state that variants of uncertain significance should not be considered to confer high cancer risk, and that patients with these variants should be counseled similarly to a patient whose genetic test is normal. However, many of the physicians surveyed in our study stated that they manage these patients in the same way as they do patients with mutations known to increase a woman's risk." Only about half of the surveyed women who received genetic testing ever discussed their test results with a genetic counselor, and between one-quarter and one-half of the surveyed breast cancer surgeons indicated they treat women with VUS no differently than women with known cancer-associated mutations, the researchers found. Furthermore, some women undergo surgery prior to receiving genetic testing or seeing the results. Kurian is the lead author of the study, which will be published online April 12 in the Journal of Clinical Oncology. University of Michigan researchers Reshma Jagsi, MD, DPhil, and Steven Katz, MD, MPH, share senior authorship. The findings come on the heels of a February study by many of the same researchers showing that physicians often fail to recommend genetic testing for breast cancer patients at high risk for mutations in the BRCA1 or BRCA2 genes, which are strongly associated with ovarian and other cancers. In this study, the researchers asked 2,502 women newly diagnosed with breast cancer whether they had received genetic testing, and if so, whether the testing and any discussion of results occurred before or after breast surgery. They found that of the 666 women who had received testing, 59 percent were considered to have a high risk of a dangerous mutation in a cancer-associated gene. About one-quarter of these women had genetic testing only after surgery -- meaning critical decisions were made about their care before information about their mutation status was available. Delays in testing were particularly pronounced in women who lacked private health insurance. The researchers then polled the surgeons who treated the women in the survey. They found that, when compared with doctors who had treated 51 or more newly diagnosed breast cancer patients during the previous year, doctors who had treated fewer than 21 breast cancer patients were: less confident in discussing the results of genetic testing with patients, more likely to order the genetic test without referring women to a genetic counselor, less likely to delay surgery in order to have test results available for surgical decision-making and more likely to manage a patient with variants of uncertain significance in the same way they would manage patients with proven high-risk mutations in cancer-associated genes. "Our findings suggest that we are not maximizing the benefit of genetic testing for our patients with breast cancer because of barriers related to timeliness of testing and lack of expertise necessary to incorporate results into treatment decisions," said Katz, who is a professor of medicine and of health management and policy at the University of Michigan. Although genetic testing has become more common and less costly, it's also become more confusing. The advent of multiplex gene panels that simultaneously test for mutations or variations in many different genes can render results that are difficult to interpret without the help of a trained genetic counselor. Uncertainties as to the meaning of test results may lead less-experienced surgeons to recommend aggressive treatment in the form of bilateral mastectomies, or cause women to opt for what they may feel is the safest option to manage their cancer. Conversely, high-risk women who do carry dangerous mutations need this information to make informed decisions about their health care choices. "The gaps identified in this study are striking," said Jagsi, professor and deputy chair of radiation oncology at the University of Michigan. "It is critical to ensure that patients at high risk for known cancer-associated mutations are fully informed of the potential benefits of genetic testing, and counseled accurately about the meaning of test results." "We're learning that clinicians' knowledge of breast cancer genetics can be highly variable," said Kurian, who is a member of the Stanford Cancer Institute. "It's important for women at high risk of carrying a dangerous mutation to see someone with expertise in cancer genetics when planning their care. Unfortunately, in many cases genetic counselors may not be optimally integrated into the care of newly diagnosed cancer patients, making it difficult to rapidly triage these patients. Our study highlights the urgent need for improved patient access to cancer genetics experts, particularly genetic counselors, and for educating physicians about the appropriate use of genetic testing and interpretation of test results." Researchers from the University of Southern California, Emory University and the Memorial Sloan-Kettering Cancer Center also contributed to the study. The study was supported by the National Institutes of Health (grant P01CA163233), the California Department of Public Health and the Centers for Disease Control and Prevention. Kurian has received research funding from Invitae, Myriad Genetics, Ambry Genetics, GenDx and Genomic Health. Stanford's departments of Medicine and of Health Research and Policy also supported the work. The Stanford University School of Medicine consistently ranks among the nation's top medical schools, integrating research, medical education, patient care and community service. For more news about the school, please visit http://med. . The medical school is part of Stanford Medicine, which includes Stanford Health Care and Stanford Children's Health. For information about all three, please visit http://med. .


"Genetic information has enormous potential to transform healthcare for the better," said Sean George, chief executive officer of Invitae. "CancerGene Connect will allow us to expand the tools we offer to clinicians using genetic information as part of patient care. The CancerGene Connect platform is unmatched for ease of use and depth of analysis, and has strong endorsement from clinicians who use it. We're proud to add it to the services we offer." By encouraging family history collection by the patients prior to their genetics appointment, CancerGene Connect assembles more thorough and detailed information. Clinicians have found that providing patients with the tools needed to answer detailed questions and connect with other family members to collect specific details significantly elevated the quality of family health data. The analysis tools that build on that data provide depth and flexibility for clinicians to tailor to each individual patient. "We are extremely proud of the platform we've built with CancerGene Connect and the impact it has on improving care for patients," said Richard Burghardt, chief executive officer of Ommdom. "Although most frequently discussed in relation to cancer, family health history also has significant and growing importance in the prevention and management of heart, metabolic, neurological, and other diseases. Joining Invitae will broaden the reach of our technology, bringing its benefits to more clinicians and their patients." The technology behind CancerGene Connect was first created in the late 1990s at UT Southwestern Medical Center, which developed an initial version of the tool that enabled clinicians to quickly and digitally run complex risk assessment algorithms that previously required time-intensive research calculations for each patient. It soon became an institutional standard used throughout the academic and research world. In 2013, UT Southwestern Medical Center won the prestigious Innovator Award from the Association of Community Cancer Centers (ACCC) for its work on CancerGene Connect. Ommdom has an exclusive license from UT Southwestern Medical Center to further develop and commercialize CancerGene Connect. Under the terms of the stock exchange agreement, Invitae acquired all of Ommdom's outstanding capital stock in exchange for approximately $6 million in Invitae common stock. About Ommdom and CancerGene Connect Ommdom is a software development, commercialization, and technology sales company whose core competency is healthcare software - most specifically family history collection and utilization software solutions. CancerGene Connect was originally developed by UT Southwestern Medical Center, which runs one of the largest hereditary cancer genetic counseling practices in the country, and is a complete and modern family history cloud-based genetic counseling productivity platform. CancerGene Connect not only greatly streamlines the complex and tedious process of gathering complete patient health and family histories, it utilizes this data to draw pedigrees, family tree charts, run risk algorithms, generate reports, and populate a risk assessment database for research. For more information, please go to www.cagene.com. About Invitae Invitae (NYSE: NVTA) is one of the fastest growing genetic information companies in the U.S. Invitae Corporation's mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Invitae's goal is to aggregate most of the world's genetic tests into a single service with higher quality, faster turnaround time, and lower price than many single-gene and panel tests today. The company currently provides a diagnostic service comprising approximately 1,500 genes for a variety of genetic disorders associated with oncology, cardiology, neurology, pediatrics, and other rare disease areas, as well as clinical analysis of a 20,000-gene medical exome. Additionally, the company has created a Genome Network to connect patients, clinicians, advocacy organizations, researchers, and therapeutic developers to accelerate the understanding, diagnosis, and treatment of hereditary disease. For more information, visit our website at invitae.com. Safe Harbor Statements This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements that the acquisition expands the company's suite of genome management offerings to help patients and clinicians use genetic information as part of mainstream medical care; that genetic information has enormous potential to transform healthcare for the better; the benefits of CancerGene Connect, including the impact it has on improving care for patients; that family health history has significant and growing importance in the prevention and management of heart, metabolic, neurological, and other diseases; and that the transaction will broaden the reach of Ommdom's technology, bringing its benefits to more clinicians and their patients. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to:  risks associated with the company's limited experience with respect to acquisitions and its ability to integrate Ommdom successfully into its existing business; the company's ability to retain Ommdom employees; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business, including privacy laws; the company's history of losses; the company's ability to compete; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Annual Report on Form 10-Q for the quarter ended March 31, 2017. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements. NOTE: Invitae and the Invitae logo are trademarks of Invitae Corporation. All other trademarks and service marks are the property of their respective owners. To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/invitae-acquires-cancergene-connect-award-winning-risk-assessment-and-family-history-analysis-platform-300472102.html


Systems and methods for biological sample processing are described. A production line extracts genomic DNA from a biological sample, amplifies target components of the sample and produces sequence data for markers from the amplified components. The markers are associated with tests identified in a requisition received with the sample and some markers may be associated with unrequisitioned tests. A sample information management system (SIMS) controls and monitors the production line and subsequent analysis of the results using information in a quality control (QC) database to validate the results. A repository comprising the QC database and a research database receives and aggregates the results without identifying the source of the sample. A portal may be provided to provide access to the research database to a plurality of external contributors. Contributors can selectively provide additional research data and data can be processed using data mining and curation tools.


Provided herein are novel methods, systems and processes for mapping sequence reads to a modified reference genome and determining the presence or absence of a genetic variation, or the likelihood thereof, in a gene of interest in a subject.


Patent
Invitae | Date: 2013-12-06

Methods for multiplex ligation-dependent probe amplification include (a) providing a sample tissue to query different target nucleic acids, (b) providing different probe sets for each of the target nucleic acids, each probe set including a first locus specific probe having a first adapter sequence and a first target specific portion and a second locus specific probe having a second adapter sequence, and a second target specific portion adjacent to the first target specific portion, (c) hybridizing the probe sets to the target sequences to form hybridization complexes, (d) ligating the hybridization complexes to form ligated probes, (e) amplifying the ligated probes to form amplicons, the amplifying step being carried out with a first universal primer including a region complementary to the first adapter sequence and a second universal primer including a region complementary to the second adapter sequence, and (f) detecting the amplicons in a detection system by sequencing each of the amplicons.

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