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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. .


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.


Provided herein, in some embodiments, are novel compositions and improved methods for nucleic acid manipulation and analysis that can be applied to multiplex nucleic acid sequencing. In certain embodiments, the novel compositions and methods presented herein are more cost effective, more conducive to automation, and faster than traditional approaches. Also provided herein are novel blocking nucleic acids.


Provided herein, in some embodiments, are novel compositions and improved methods for nucleic acid manipulation and analysis that can be applied to multiplex nucleic acid sequencing. In certain embodiments, the novel compositions and methods presented herein are more cost effective, more conducive to automation, and faster than traditional approaches. Also provided herein are novel blocking nucleic acids.


Provided herein are novel methods, systems and processes of mapping and assembling sequence reads. Also provided herein are methods, systems and processes of identifying the presence or absence of a genetic variation in a genome of a subject.


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.


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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