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Knapke S.,GeneDx | Haidle J.L.,Guardant Health | Nagy R.,Humphrey Cancer Center | Pirzadeh-Miller S.,University of Texas at Dallas
Genetics in Medicine | Year: 2016

Purpose:Genetic risk assessment and counseling by a qualified genetics professional are recommended to ensure high-quality care for individuals at risk of hereditary cancer. Timely access to genetic services provided by a genetic counselor (GC) is essential, especially in cases where genetic testing results may affect impending surgical decisions.Methods:A survey of GCs who specialize in cancer genetics was performed to assess service delivery models and ability to accommodate urgent cases.Results:Over half of all respondents indicated that urgent patients can be seen for consultation the same day or within 1-2 business days, and almost all respondents indicated that urgent cases can be seen within 1 week. Most respondents indicated that urgent cases are seen by a GC only with no physician involved.Conclusions:The results of this survey of GCs demonstrate that timely access to cancer genetic counseling by GCs in an urgent setting is available.Genet Med 18 4, 410-412. © American College of Medical Genetics and Genomics.


MIAMI, Feb. 28, 2017 (GLOBE NEWSWIRE) -- OPKO Health, Inc. (NASDAQ:OPK), today announces that GeneDx, a subsidiary of OPKO Health, is proud to participate as a founding member in Illumina Inc.’s (NASDAQ:ILMN) iHope Network on International Rare Disease Day, which takes place today.  iHope Network is led by a group of clinical laboratory partners committed to providing clinical whole-genome sequencing (cWGS) to children with undiagnosed rare diseases. The iHope program aims to offer this advanced technology to help end diagnostic odysseys that these patients and their families endure. In addition to GeneDx, the iHope Network currently consists of the following institutions: Illumina, the Garvan Institute of Medical Research, and Hudson Alpha. As an iHope Network partner, GeneDx has committed to donating 10 whole-genome sequencing tests per year. The variants identified through testing will be shared via public variant databases including ClinVar. By sharing this variant information, GeneDx continues its long-standing commitment to sharing data for better patient care while also contributing to the rare disorder community through further collaboration and research. “We are thrilled to have GeneDx as a founding member of the iHope Network, which will transform the lives of pediatric patients with limited access to resources and who need a genetic diagnosis quickly. As a leader in the field, GeneDx’s clinical whole-genome testing will prove invaluable to these families,” said Ryan Taft, PhD, Senior Director of the Scientific Research Population and Medical Genomics Department, Illumina. GeneDx was founded in 2000 by two scientists from the National Institutes of Health (NIH) with a mission to provide diagnostic testing for patients with rare and ultra-rare disorders. Today, GeneDx has grown into a global industry leader in genomics, having provided testing to patients and their families in over 55 countries. Led by its world-renowned whole exome sequencing program, and an unparalleled comprehensive genetic testing menu, GeneDx has a continued expertise in rare disorders. Both GeneDx and the iHope program strive to provide answers to those affected by rare diseases and to increase awareness for these disorders. “We are delighted to become a participating partner of Illumina’s iHope Network,” said Jane Juusola, PhD, FACMG, Director of the Clinical Genomics Program, GeneDx. “As a laboratory founded to address the needs of patients diagnosed with rare genetic diseases, the very principle of the iHope program aligns with our founding mission. Through our donation of 10 whole-genome sequencing tests, we hope to bring closure to the diagnostic odysseys for children with undiagnosed rare diseases.” GeneDx is a world leader in genomics with an acknowledged expertise in rare and ultra-rare genetic disorders, as well as one of the broadest menus of sequencing services available among commercial laboratories. GeneDx provides testing to patients and their families in more than 55 countries.  GeneDx is a business unit of BioReference Laboratories, a wholly owned subsidiary of OPKO Health, Inc.  To learn more, please visit www.genedx.com. For GeneDx’s complete list of testing options, please visit www.genedx.com or email genedx@genedx.com.  Follow on Twitter @GeneDx and become a fan on Facebook @GeneDxLab to get real-time updates. OPKO Health is a diversified healthcare company that seeks to establish industry-leading positions in large, rapidly growing markets. Our diagnostics business includes BioReference Laboratories, the nation’s third-largest clinical laboratory with a core genetic testing business and a 400-person sales and marketing team to drive growth and leverage new products, including the 4Kscore® prostate cancer test and the Claros® 1 in-office immunoassay platform. Our pharmaceutical business features RAYALDEE, an FDA-approved treatment for SHPT in stage 3-4 CKD patients with vitamin D insufficiency (launched in November 2016), VARUBI™ for chemotherapy-induced nausea and vomiting (oral formulation launched by partner TESARO and IV formulation pending FDA approval), TT401, a once or twice weekly oxyntomodulin for type 2 diabetes and obesity which is a clinically advanced drug candidate among the new class of GLP-1 glucagon receptor dual agonists, and TT701, an androgen receptor modulator for androgen deficiency indications. Our biologics business includes hGH-CTP, a once weekly human growth hormone injection (in Phase 3 and partnered with Pfizer), a long-acting oxyntomodulin for diabetes and obesity (in Phase 1). We also have production and distribution assets worldwide, multiple strategic investments and an active business development strategy. More information available at www.opko.com. This press release contains "forward-looking statements," as that term is defined under the Private Securities Litigation Reform Act of 1995 (PSLRA), and such statements may be identified by words such as "expects," "plans," "projects," "will," "may," "anticipates," "believes," "should," "intends," "estimates," and other words of similar meaning, including statements regarding expected benefits of the iHope program, that it will benefit patients with rare disease and better patient care, as well as other non-historical statements about our expectations, beliefs or intentions regarding our business, technologies and products, financial condition, strategies or prospects. Many factors could cause our actual activities or results to differ materially from the activities and results anticipated in forward-looking statements. These factors include those described in our filings with the Securities and Exchange Commission, as well as the risks inherent in funding, developing and obtaining regulatory approvals of new, commercially-viable and competitive products and treatments. In addition, forward-looking statements may also be adversely affected by general market factors, competitive product development, product availability, federal and state regulations and legislation, the regulatory process for new products and indications, manufacturing issues that may arise, patent positions and litigation, among other factors. The forward-looking statements contained in this press release speak only as of the date the statements were made, and we do not undertake any obligation to update forward-looking statements. We intend that all forward-looking statements be subject to the safe-harbor provisions of the PSLRA.


News Article | April 18, 2016
Site: www.biosciencetechnology.com

Thanks in part to the efforts of one dedicated mother, who took to Facebook to document her son’s mysterious developmental disability, an international team of researchers led by scientists at UC San Francisco and Baylor College of Medicine in Houston has now identified a new genetic syndrome that could help illuminate the biological causes of one of the most common forms of intellectual disability. In a study of 10 children published online in the American Journal of Human Genetics on April 14, the researchers linked a constellation of birth defects affecting the brain, eye, ear, heart and kidney to mutations in a single gene, called RERE. The discovery is likely to aid researchers striving to understand the cause of birth defects more broadly, the study’s authors said, but it is also a boon to families who know for the first time the reason their children share this group of developmental disabilities. “Just having an answer can be hugely beneficial for families,” said co-senior author Elliott Sherr, M.D., Ph.D., a UCSF pediatric neurologist who directs the Brain Development Research Program and the Comprehensive Center for Brain Development at UCSF. “Of course, getting a genetic answer is just the first step, but for the longest time we didn’t even have that much. It gives these families hope that we can move forward.” Finding could speed search for answers in more common genetic syndrome In their paper, the researchers demonstrate that the developmental disabilities suffered by children with RERE mutations correspond almost perfectly to the well-known pattern of intellectual disabilities, heart defects, craniofacial abnormalities, and hearing and vision problems seen in 1p36 deletion syndrome, one of the most common sources of intellectual disability in children. This syndrome occurs in approximately 1 in 5,000 newborns, and is caused by a much larger (and harder to study) pattern of genetic damage in the so-called 1p36 region at the tip of human chromosome 1. The research group of Daryl Scott, MD, PHD, an associate professor of molecular and human genetics at Baylor College of Medicine, has been working for many years to identify the specific genes that cause the medical problems in children with 1p36 deletion syndrome. “Previous research had narrowed it down to two smaller ‘critical regions’ within the 1p36 region, but even these smaller regions contain dozens of different genes,” said Scott, who was co-senior author on the new study. Scott’s group had focused on the RERE gene, which lies within one of these 1p36 critical regions, because it plays a role in retinoic acid (vitamin A) signaling, an important pathway regulating the development of many organs, including the brain, eye and heart. The Baylor researchers found that mice with Rere mutations had birth defects that were very similar to the children with 1p36 deletions, but had initially been unable to prove that damage to this gene was sufficient produce the same developmental problems in humans. Sherr and Scott credit the genesis of their collaboration to Chauntelle Trefz, the mother of one of Sherr’s patients who connected the two researchers after discovering Scott’s work on mice with Rere mutations online and whose Facebook page about her son, Harrison, became a hub for identifying other children with the same condition. Trefz says that getting the whole exome sequencing results from Sherr and learning that a single gene mutation was responsible for her son’s dizzying array of symptoms — which include global developmental delay, vision problems, hearing problems, weak muscles, and constant acid reflux — was “a game-changer.” “Learning about the mutation was like a huge weight had been lifted,” she said. “When you bring a child with special needs into the world you feel so guilty, like you’ve done something wrong. Hope can be a hard thing to find. Dr. Sherr gave us hope.” Trefz started a Facebook page documenting the joys and challenges of raising and caring for Harrison, who is now 4, hoping to find other families whose children had the same condition. “Harrison is such a happy kid, and he seems normal in many ways, but he’s really not,” she said. “I could see a lot of kids falling through the cracks without the right diagnosis. I wanted other parents to see this and say, ‘that sounds like my son.’” Soon Sherr and Scott had identified 10 children with RERE mutations through collaborators around the US, as well as several from the Netherlands who had found the researchers through Trefz’s Facebook page. The researchers began a thorough comparison of these 10 children with a cohort of 31 patients with the more common 1p36 deletion syndrome, and found that RERE mutations alone produced almost exactly the same pattern of symptoms as 1p36 syndrome, with the exception of a few of the craniofacial abnormalities and cardiomyopathies often seen in that more common syndrome. Additional experiments showed that unique brain and eye problems first observed in human patients were also seen in the mice with Rere mutations. “It’s still a shock that [a mutation in] one gene is capable of causing all these different problems,” Scott said. “But this finding really brings everything together, from molecular studies to mouse experiments and all the way to human patients. We’ve finally proved what we’ve been talking about for all these years.” Though much more study is needed to understand the syndrome fully, Scott said, RERE mutations may be capable of inducing a diverse set of developmental problems because the protein encoded by the gene interacts with important developmental processes in many organs throughout the body, such as the retinoic acid signaling crucial for proper eye and heart development. When RERE doesn’t function properly, the development of all of these organs is affected. Sherr acknowledges that the current sample of just 10 patients with RERE mutations, who each experience slightly different symptoms with notably different levels of severity, is too small to give a complete portrait of the new syndrome. “Now that we’ve seen the first 10 cases, we want to know what the next 10, the next 20 look like,” he said. “That may not take very long. Before we’d even published the paper, we’d already gotten calls from more clinics around the country whose patients have similar mutations. We suspect this syndrome may be significantly more common than we previously appreciated.” The empowerment of families through social media and the plummeting cost of of gene sequencing technologies have produced a revolution in the pace of discovery about rare genetic conditions, Sherr said. “In the last five years alone there’s been a huge explosion in the number of conditions we can decipher genetically – we can take a few kids with developmental disabilities, come up with a coherent genetic explanation for what has happened and use that as first step for how to move forward” he said. “When I started working in child neurology as a fellow back in the late ‘90s, we understood just a few of these super-rare genetic disorders but now there are hundreds. And we’re just getting started.” The authors acknowledge the following industry ties: Sherr is a member of the clinical advisory board of genetic testing company InVitae and consults for Personalis. Four of the authors are employees of GeneDx, which provides exome sequencing on a clinical basis. The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from clinical laboratory testing conducted at Baylor Miraca Genetics Laboratories, which provides exome sequencing on a clinical basis.


News Article | November 7, 2016
Site: globenewswire.com

MIAMI, Nov. 07, 2016 (GLOBE NEWSWIRE) --  OPKO Health, Inc. (NASDAQ:OPK), reports financial and operating results for the three months ended September 30, 2016. “We are finalizing the details of our commercial launch of RAYALDEE and have completed the selection and hiring of a very talented commercial team, all of whom bring deep relationships in the nephrology and specialty pharmaceutical sales market,” stated Phillip Frost, M.D., Chairman and Chief Executive Officer of OPKO.  “RAYALDEE will be an important medicine for a large number of chronic kidney disease patients suffering from SHPT and vitamin D insufficiency.  We are working closely with the Vifor Fresenius Medical Care Renal Pharma team to bring RAYALDEE  to market outside the U.S. and are presently planning the start of a Phase 3 trial in dialysis patients which  represents the first potential line extension for RAYALDEE in addition to its currently approved indication. “With the Transition Therapeutics acquisition, we now have two additional important drugs in Phase 2 development; one for patients who could benefit from its effects on increasing bone and muscle strength while decreasing fat mass; the other for type 2 diabetes and obesity.  Each drug has already been studied and shown to be safe in approximately 400 patients.  We are also very pleased to now have the benefit of an experienced Transition Therapeutics team led by its CEO, Tony Cruz. “Our BioReference Laboratories and its GeneDx unit continue to grow and the utilization of our innovative 4Kscore test for predicting the probability of aggressive prostate cancer remains strong. Last, we have made great progress on our Claros point of care diagnostic system and anticipate starting clinical trials for our PSA and testosterone tests in the coming months,” continued Dr. Frost. OPKO’s senior management will provide a business update and discuss results in greater detail  in a conference call and live audio webcast at 4:30 p.m. Eastern time today. The conference call dial in information is listed below. To access the webcast, please log on to the OPKO website at www.opko.com. For those unable to participate in the conference call or webcast, a replay will be available beginning November 7, 2016 at 7:30 p.m. ET for a period of time. To access the replay, dial (855) 859-2056 or (404) 537-3406. The replay passcode is: 12830677. The replay can also be accessed for a period of time on OPKO’s website at www.opko.com. OPKO Health is a diversified healthcare company that seeks to establish industry-leading positions in large, rapidly growing markets. Our diagnostics business includes Bio-Reference Laboratories, the nation's third-largest clinical laboratory with a core genetic testing business and a 420-person sales force to drive growth and leverage new products, including the 4Kscore® prostate cancer test and the Claros® 1 in-office immunoassay platform. Our pharmaceutical business features RAYALDEE, an FDA-approved treatment for SHPT in stage 3-4 CKD patients with vitamin D insufficiency, VARUBI™ for chemotherapy-induced nausea and vomiting (oral formulation launched by partner TESARO and IV formulation PDUFA date: January 2017), TT401, a once or twice weekly oxyntomodulin for type 2 diabetes and obesity which is a clinically advanced drug candidate among the new class of GLP-1 glucagon receptor dual agonists, and TT701, an androgen receptor modulator for androgen deficiency indications.  Our biologics business includes hGH-CTP, a once-weekly human growth hormone injection (in phase 3 and partnered with Pfizer), a long-acting Factor VIIa drug for hemophilia (in phase 2a) and a long-acting oxyntomodulin for diabetes and obesity (in phase 1). We also have production and distribution assets worldwide, multiple strategic investments and an active business development strategy. More information is available at www.opko.com. This press release contains "forward-looking statements," as that term is defined under the Private Securities Litigation Reform Act of 1995 (PSLRA), which statements may be identified by words such as "expects," "plans," "projects," "will," "may," "anticipates," "believes," "should," "intends," "estimates," and other words of similar meaning, including statements regarding expected financial performance, our product development efforts and the expected benefits of our products, including whether our ongoing and future clinical trials will be completed on a timely basis or at all and whether the data from any of our trials will support approval, validation and/or reimbursement for our products, the expected timing for launch of our products in development, including RAYALDEE, the expected timing of commencing and concluding our clinical trials, enrollment in clinical trials, and disclosure of results for the trials, the timing of our regulatory submissions, our ability to market and sell any of our products in development, expectations about developing RAYALDEE for dialysis patients, our ability to obtain broad reimbursement coverage for the 4Kscore test, increased adoption rates for the 4Kscore, our expectations about the Transition Therapeutics products in development, as well as other non-historical statements about our expectations, beliefs or intentions regarding our business, technologies and products, financial condition, strategies or prospects. Many factors could cause our actual activities or results to differ materially from the activities and results anticipated in forward-looking statements. These factors include those described in our Annual Reports on Form 10-K filed and to be filed with the Securities and Exchange Commission and in our other filings with the Securities and Exchange Commission, as well as integration challenges for Bio-Reference, EirGen, Transition, and other acquired businesses, the risks inherent in funding, developing and obtaining regulatory approvals of new, commercially-viable and competitive products and treatments, that earlier clinical results of effectiveness and safety may not be reproducible or indicative of future results, that the 4Kscore, RAYALDEE, Varubi™, hGH-CTP, and/or any of our compounds or diagnostic products under development may fail, may not achieve the expected results or effectiveness and may not generate data that would support the approval or marketing of products for the indications being studied or for other indications, that currently available over-the-counter and prescription products, as well as products under development by others, may prove to be as or more effective than our products for the indications being studied. In addition, forward-looking statements may also be adversely affected by general market factors, competitive product development, product availability, federal and state regulations and legislation, the regulatory process for new products and indications, manufacturing issues that may arise, patent positions and litigation, among other factors. The forward-looking statements contained in this press release speak only as of the date the statements were made, and we do not undertake any obligation to update forward-looking statements. We intend that all forward-looking statements be subject to the safe-harbor provisions of the PSLRA.


News Article | November 10, 2016
Site: www.newsmaker.com.au

Cancer is characterized by the growth of abnormal cells that divide uncontrollably and have the ability to infiltrate and destroy normal body tissue. Cancer is triggered by both external factors such as tobacco, chemicals, alcohol, infectious organisms, sun exposure and internal factors such as hormones, inherited gene mutations, immune conditions and abrupt mutations. Cancer can start almost anywhere in the human body and has the ability to spread all over the body. Cancers are majorly solid tumors (tissue masses) and blood cancers (leukemia). There are more than 100 types of cancers such as lung cancer, colorectal, breast, blood cancers, etc. Cancer is the second-leading cause of death in the United States. But survival rates have improved for many types of cancer due to continuous development of screening and treatment procedures. The most common cancer diagnostic methods are biopsy, sentinel node biopsy, endoscopy, blood tests, bone marrow aspiration, Pap test, sputum and bronchial washing analysis, imaging studies, genetic analysis, etc. The diagnosis of cancer involves collection of patient samples such as a cell or tissue or cells’ proteins, DNA, and RNA followed by detection of specific cancer. Cancer diagnostics market is witnessing high growth due to increasing prevalence and incidences of several types of cancers. Major drivers for the global cancer diagnostic market are technologically advanced and increasing point-of-care diagnostics, cost-effective treatment modalities, and personalized medicine. Additionally, increasing persistence to provide best-in-class healthcare services with high accuracy and efficiency towards patient is expected to fuel the global cancer diagnostics market across the globe. However, lack of adequate reimbursement policies for novel technologies and stringent regulatory procedures particularly for United States are the major factors that can hamper the global cancer diagnostics growth over the forecast period. The global cancer diagnostics market has been classified on the basis of product, application, end use and geography. Based on product type, the global cancer diagnostics market is segmented into the following: Based on application type, the global cancer diagnostics market is segmented into the following: Based on end use type, the global cancer diagnostics market is segmented into the following: North America was the key region in global cancer diagnostics market in terms of revenue in 2014, followed by Europe. The first FDA-cleared assay for breast cancer diagnosis was In Vitro Diagnostic Multivariate Index Assays (IVDMIA). The "MammaPrint" and “BluePrint” assays for breast cancer diagnosis and a microarray-based gene expression assay "ColoPrint" for predicting the recurrence of stage II and III colon cancer, has recognized the potential of cancer/tumor profiling in diagnostics and prognosis. This scenario is anticipated to revolutionize the cancer diagnostics companies and boost growth in global cancer diagnostics market in the coming five to 10 years.  By product type, genomic biomarkers are dominating as compared to other product types in global cancer diagnostics market. For instance, GUARDANT360 blood test, next generation sequencing test 'Cologuard', Cobas HPV Test, and myRisk Hereditary Cancer multigene molecular diagnostic test are few examples of genomic biomarkers. By end use, hospitals and diagnostic centres segments held 50% share in the global cancer diagnostic market and the trend is forecast to continue through 2025. The altering regulatory consequences among the high growth countries of Asia Pacific is attracting the leading companies in the global cancer diagnostics market. Key players of cancer diagnostics market are M Genomics Ltd., Abbott Laboratories,  Agena Bioscience Inc., Alere Inc., Astra Biotech GmbH, bioMérieux SA, BioMosaics, Biotype Diagnostic GmbH, Cancer Genetics, Inc., CDx Diagnostics, Celerus Diagnostics, Inc., Cube Dx GmbH, Dako A/S (an gilent company), EntroGen, Inc., Epigenomics AG, Exact Sciences Corporation, GE Healthcare, Genalyte, Inc., GeneCentric Diagnostics, Inc., GeneDx,., Genomic Vision, Genoptix (a Novartis company),  Hologic, Inc., Illumina, Inc., Inform Genomics, Inc., Mayo Medical Laboratories and Mayo Clinic, MBL International Corporation, NanoIVD, Inc., NanoString Technologies, Inc., NewGene Ltd., OncoPlex Diagnostics (OncoPlexDx), Oncospire Genomics, Oxford Cancer Biomarkers Ltd., Oxford Gene Technology, PrognosDx Health, Inc., Provista Diagnostics, Inc., QuantuMDx Group, Quest Diagnostics, Rheonix, Inc., Rosetta Genomics Ltd., Siemens Healthcare Diagnostics, Thermo Fisher Scientific, Inc., Transgenomic, Inc., TrimGen Corporation, TrovaGene, Inc., Ventana Medical Systems, Inc. Getting regulatory approvals for in vitro cancer diagnostics in Europe is easy as compared to United States. So preferably most of the cancer diagnostic companies are launching their new innovative products in Europe and consequently applying for FDA in the United States.


Richards S.,Oregon Health And Science University | Aziz N.,The American College | Aziz N.,Phoenix Childrens Hospital | Bale S.,GeneDx | And 10 more authors.
Genetics in Medicine | Year: 2015

The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants.1 In the past decade, sequencing technology has evolved rapidly with the advent of high-throughput next-generation sequencing. By adopting and leveraging next-generation sequencing, clinical laboratories are now performing an ever-increasing catalogue of genetic testing spanning genotyping, single genes, gene panels, exomes, genomes, transcriptomes, and epigenetic assays for genetic disorders. By virtue of increased complexity, this shift in genetic testing has been accompanied by new challenges in sequence interpretation. In this context the ACMG convened a workgroup in 2013 comprising representatives from the ACMG, the Association for Molecular Pathology (AMP), and the College of American Pathologists to revisit and revise the standards and guidelines for the interpretation of sequence variants. The group consisted of clinical laboratory directors and clinicians. This report represents expert opinion of the workgroup with input from ACMG, AMP, and College of American Pathologists stakeholders. These recommendations primarily apply to the breadth of genetic tests used in clinical laboratories, including genotyping, single genes, panels, exomes, and genomes. This report recommends the use of specific standard terminology-"pathogenic," "likely pathogenic," "uncertain significance," "likely benign," and "benign"-to describe variants identified in genes that cause Mendelian disorders. Moreover, this recommendation describes a process for classifying variants into these five categories based on criteria using typical types of variant evidence (e.g., population data, computational data, functional data, segregation data). Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends that clinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments-approved laboratory, with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or the equivalent. © American College of Medical Genetics and Genomics.


Rehm H.L.,HealthCare Partners | Rehm H.L.,Harvard University | Bale S.J.,GeneDx | Bayrak-Toydemir P.,University of Utah | And 8 more authors.
Genetics in Medicine | Year: 2013

Next-generation sequencing technologies have been and continue to be deployed in clinical laboratories, enabling rapid transformations in genomic medicine. These technologies have reduced the cost of large-scale sequencing by several orders of magnitude, and continuous advances are being made. It is now feasible to analyze an individual's near-complete exome or genome to assist in the diagnosis of a wide array of clinical scenarios. Next-generation sequencing technologies are also facilitating further advances in therapeutic decision making and disease prediction for at-risk patients. However, with rapid advances come additional challenges involving the clinical validation and use of these constantly evolving technologies and platforms in clinical laboratories. To assist clinical laboratories with the validation of next-generation sequencing methods and platforms, the ongoing monitoring of next-generation sequencing testing to ensure quality results, and the interpretation and reporting of variants found using these technologies, the American College of Medical Genetics and Genomics has developed the following professional standards and guidelines. © American College of Medical Genetics and Genomics.


Leslie E.J.,University of Iowa | Standley J.,University of Iowa | Compton J.,GeneDx | Bale S.,GeneDx | And 2 more authors.
Genetics in Medicine | Year: 2013

Purpose:Mutations in the transcription factor IRF6 cause allelic autosomal dominant clefting syndromes, Van der Woude syndrome, and popliteal pterygium syndrome. We compared the distribution of IRF6 coding and splice-site mutations from 549 families with Van der Woude syndrome or popliteal pterygium syndrome with that of variants from the 1000 Genomes and National Heart, Lung, and Blood Institute Exome Sequencing Projects.Methods:We compiled all published pathogenic IRF6 mutations and performed direct sequencing of IRF6 in families with Van der Woude syndrome or popliteal pterygium syndrome.Results:Although mutations causing Van der Woude syndrome or popliteal pterygium syndrome were nonrandomly distributed with significantly increased frequencies in the DNA-binding domain (P = 0.0001), variants found in controls were rare and evenly distributed in IRF6. Of 194 different missense or nonsense variants described as potentially pathogenic, we identified only two in more than 6,000 controls. PolyPhen and SIFT (sorting intolerant from tolerant) reported 5.9% of missense mutations in patients as benign, suggesting that use of current in silico prediction models to determine function can have significant false negatives.Conclusion:Mutation of IRF6 occurs infrequently in controls, suggesting that for IRF6 there is a high probability that disruption of the coding sequence, particularly the DNA-binding domain, will result in syndromic features. Prior associations of coding sequence variants in IRF6 with clefting syndromes have had few false positives. © American College of Medical Genetics and Genomics.


ATLANTA, GA, December 01, 2016-- Sequencing.com, an online platform where people can securely store their genetic data and find apps that make genetic data understandable and useful, and Concierge Medicine Today (CMT), the premier publication in Concierge Medicine, have announced a partnership to help put Whole Genome Sequencing (WGS) technology into the hands of Concierge physicians.Through this partnership, Concierge Medicine Physicians now have access to Whole Genome Sequencing services designed specifically for the practicing healthcare provider. The process is both non-invasive and simple: a saliva-collection kit is used to collect a saliva sample, which is then sent to a state-of-the-art laboratory that is a member of Sequencing.com's Preferred Provider Network of genetic testing providers.The laboratory isolates the person's DNA from the saliva and sequences the person's whole genome at 30X coverage. The massive amount of data generated by the lab is then securely transferred to Sequencing.com and made available to each physician. From there, the physician can use apps available at Sequencing.com to generate straightforward, actionable reports. The offer includes lifetime storage of the genetic data and two reports focused on wellness & longevity.Concierge Medicine Today and Sequencing.com predict the widespread use of genome sequencing by [Concierge] physicians in daily clinical patient care. Previously available only in academic medical centers, this advanced healthcare technology provides the ability to predict and prevent disease. Due to decreasing costs and better understanding about how to make genetic data actionable, this advanced technology is moving out of academia and is now fully accessible to Concierge physicians."The genetic revolution has already begun, and it is having far-reaching effects on healthcare right now," said Brandon Colby, MD, a medical doctor, author of Outsmart Your Genes and Sequencing.com's Founder and CEO. "Our knowledge of how to use this information is increasing at an exponential rate. What this means is that we can now start to integrate genetics into our everyday lives. With comprehensive genetic testing, we launch an innovative strategy against disease, attacking it before it even manifests. Whole Genome Sequencing, therefore, provides a new counter-offensive in our war against Alzheimer's, cancer, heart disease, and many other diseases that have plagued our civilization for centuries. This is the most exciting, and potentially groundbreaking, medical development of this century.""DNA data with the continuous interaction and direction of a [Concierge] physician ushers in a healthcare utopia. In this way, it simplifies decision making using insights obtained from each person's genetic data," said Michael Tetreault, Editor of Concierge Medicine Today."Genetic technology has reached the point where the cost of conducting comprehensive genetic testing [ie. Whole Genome Sequencing] for hundreds of preventable diseases at a single time is now affordable," said Catherine Sykes, CEO, and Publisher of the national trade publication. "After years of thoughtful consideration, careful research and review, countless hours of dialogue with various physicians and technology companies, we encourage Concierge Medicine Physicians to make personal genomic data information available to patients so that they can start to understand their makeup, learn more about their individual genome and predictors and begin to use these insights to improve their lives.""Anything that moves us toward the realization of better outcomes using data and evidence-based medicine gets a green light by Concierge Medicine Today," says Sykes. "Whole Genome Sequencing provides the data needed for Concierge physicians to be able to integrate personalized precision medicine into their practice."To learn more about Concierge Medicine and Whole Genome Sequencing, visit www.ConciergeMedicineToday.com About Concierge Medicine TodayConcierge Medicine Today (CMT) is a news organization and the Concierge Medicine industry's oldest national trade publication for the Concierge Medicine and Membership Medicine marketplaces. Its website is the online destination for businesses, consumers, physicians, legislators, researchers and other stakeholders to learn about the history of this industry, various business aspects of the marketplace, trends, breaking news and more that drives the conversation that Concierge Medicine and free market healthcare delivery is creating on a national and international level. Concierge Medicine Today recently released their Position Statement on Whole Genome Sequencing. For more information, visit: www.GeneticConciergeMedicine.com or www.ConciergeMedicineToday.com About Sequencing.comSequencing.com's first-of-its-kind HIPAA-compliant platform allows people to obtain meaning and value from their genes. The platform includes an App Market with dozens of apps that empower individuals, researchers, bioinformaticians and healthcare professionals to tap into genetic data for deep and rich insights. It is a one-stop-shop that collates and organizes available genetic-based apps into a single online marketplace.Sequencing.com's platform is fully compatible with all genetic data formats and technologies, including Whole Genome Sequencing, exome sequencing, microarrays, and genealogy-focused DNA tests. Data generated by almost any genetic data can be stored and made useful at Sequencing.com including genetic tests offered by Illumina, BGI, Thermo Fisher, GeneDx, Ambry Genetics, Helix, National Geographic, Ancestry.com and 23andMe.


SAN DIEGO--(BUSINESS WIRE)--Illumina, Inc. (NASDAQ:ILMN) today announced the launch of the iHope Network, a consortium of member institutions who have committed to providing clinical whole genome sequencing (cWGS) to underserved families. Today, the iHope Network consists of clinical laboratory members: Illumina, Genome.One, GeneDx, HudsonAlpha and their affiliate healthcare partners. Through whole-genome sequencing – the process of determining the genetic code or instructions in the cells within a person’s body – the iHope Network and their respective clinical partners strive to end years-long diagnostic odysseys. These odysseys average seven years in length and include multiple inconclusive tests, surgeries and procedures, many of which do not result in answers or treatment options for these children and their families. The iHope Network members have committed to a minimum philanthropic donation of 10 whole genome tests per year (10 patients). Additionally, iHope Network organizations have agreed to donate the variants identified through iHope to public databases, like Clinvar, which are freely accessible, public archives of reports of the relationships among human variations and their related symptoms or diseases. By doing so, the public wealth of knowledge will continue to grow and provide benefit to many more patients who depend on the precision of genomic medicine. With precision medicine and large-scale genomic initiatives being launched across the globe, genomics is reaching an inflection point in public awareness. The iHope program aims to build on that public awareness by demonstrating how next-generation sequencing can create a significant impact – by helping undiagnosed patients and their families find long sought-after answers. “We are delighted to become a participating partner of Illumina’s iHope Network” said Jane Juusola, PhD, FACMG, Director of the Clinical Genomics Program, GeneDx. “As a laboratory founded to address the needs of patients diagnosed with rare genetic diseases, the very principle of the iHope program aligns with our founding mission. Through our donation of 10 whole-genome sequencing tests, we hope to bring closure to the diagnostic odysseys for children with undiagnosed rare diseases.” “We’ve seen firsthand how a diagnosis can help families get a clearer understanding of the journey ahead,” said Marcel Dinger, CEO of Genome.One, a wholly owned subsidiary of the Garvan Institute of Medical Research. “We’re very pleased to be part of the iHope Network that will help people who are currently unable to access clinical whole-genome sequencing and help to raise awareness about the value of WGS for rare and genetic disease.” “The evidence is clear that genomic medicine can directly benefit patients. And there are millions of patients who need whole-genome sequencing today, and who cannot afford it,” said Howard J. Jacob, Ph.D., Executive Vice President for Genomic Medicine and Chief Genomic Medicine Officer, HudsonAlpha Institute for Biotechnology. “The more people who are helped through this initiative, the better the likelihood whole-genome sequencing will be integrated into clinical practice around the globe. We are proud to join the iHope Network and help save lives.” The ultimate goal of the iHope Network is to increase awareness and adoption of cWGS and demonstrate to the community that clinical whole genomes are a needed resource for all pediatric patients facing rare and undiagnosed diseases. An iHope Network Summit will take place later this year. To learn more about the program or to become part of the iHope Network, please visit: www.illumina.com/ihope. GeneDx is a world leader in Genomics with an acknowledged expertise in rare and ultra rare genetic disorders, as well as one of the broadest menus of sequencing services available among commercial laboratories. GeneDx provides testing to patients and their families in more than 55 countries. GeneDx is a business unit of BioReference Laboratories, a wholly owned subsidiary of OPKO Health, Inc. To learn more, please visit www.genedx.com. About Genome.One and the Garvan Institute of Medical Research Genome.One (www.genome.one) is a pioneering health information company providing genetic answers to life’s biggest health questions through clinical Whole Genome Sequencing. Genome.One aims to enhance the lives of patients, families and communities across the world. Genome.One is a wholly owned subsidiary of the Garvan Institute of Medical Research, Sydney, Australia. Garvan’s mission is to make significant contributions to medical science that will change the directions of science and medicine and have major impacts on human health. HudsonAlpha Institute for Biotechnology is a nonprofit institute dedicated to innovating in the field of genomic technology and sciences across a spectrum of biological challenges. Opened in 2008, its mission is four-fold: sparking scientific discoveries that can impact human health and well-being; bringing genomic medicine into clinical care; fostering life sciences entrepreneurship and business growth; and encouraging the creation of a genomics-literate workforce and society. The HudsonAlpha biotechnology campus consists of 152 acres nestled within Cummings Research Park, the nation’s second largest research park. Designed to be a hothouse of biotech economic development, HudsonAlpha’s state-of-the-art facilities co-locate nonprofit scientific researchers with entrepreneurs and educators. The relationships formed on the HudsonAlpha campus encourage collaborations that produce advances in medicine and agriculture. Under the leadership of Dr. Richard M. Myers, a key collaborator on the Human Genome Project, HudsonAlpha has become a national and international leader in genetics and genomics research and biotech education, and includes more than 30 diverse biotech companies on campus. To learn more about HudsonAlpha, visit: http://hudsonalpha.org/. Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. To learn more, visit www.illumina.com and follow @illumina.

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