In 2009, we established a CLIA-certified, CAP-accredited laboratory to offer clinical whole-genome sequencing services. “CGEn scientists were the first to sequence the SARS genome in 2003 and determine it to be a coronavirus. This approach was originally used in Sanger sequencing but is now also used in next-generation sequencing methods providing rapid genome sequencing with lower c… Whole genome sequencing (WGS) gives clinical specialists and researchers a comprehensive view of a patient’s genetic composition. individuals with similar levels of exposure. Expanded Carrier Screening identifies parents-to-be that are likely to pass on genetic conditions to their children. You can pay for the test at a Patient Service Centre or using a payment form. This category of variant is not reported for fetal samples or samples from deceased persons. Genome Centre at McGill University) and Vancouver However, it does mean that we will report variants detected in certain genes that are outlined in these recommendations as being medically actionable. You and your physician will receive a summary of the session afterward. million in Federal funding to sequence the genomes of thousands of Canadians, Download the patient package now (includes consent and requisition forms). NextSeq 500/550 v2 Reagent Kits: Bring the power of a high-throughput sequencing system to the desktop. We only use your personal information to provide the services you request from us. by the human host genome in response to the virus. A Canadian proposal for reporting results from whole-genome and whole-exome sequencing in clinical practice in Canada (Zawati et al. WGS detects copy number variations (CNVs), translocations, splice site variants, regulatory region variants, and insertions/deletions (including their position on the genome) to help interpret their downstream effects in coding regions, Raw data (.fastq, .bam, or .vcf file formats) and research report available, Opt-out option available for incidental findings, Test type, date, methodology, result, and interpretation. CGEn has Genetic tests yield a wealth of information – some of it unexpected. Established in 2014, CGEn employs over 200 staff, and is funded primarily by the Canada Foundation for Innovation (CFI) through its Major Science Initiatives Fund (MSI), leveraging investments from Genome Canada and other stakeholders. With trio cases, reports will not be issued for the parents unless prior arrangements are made. CGEn, funded primarily by the Canada Foundation for Innovation (CFI) and Genome Canada, and leveraging investments from other Over the last few months CGEn through its nodes in Toronto, Montreal and Vancouver have joined the fight against COVID-19 by leveraging our best resources – our people, expertise and infrastructure. Summary. As the national and global data on The partnership will also allow both groups to share insights and discoveries to drive understanding of the pandemic as it changes over time. From time to time, we would like to contact you about our research and services, as well as other related content that may be of interest to you. Consult with your healthcare provider, speak with your family, and ensure you have access to the latest information before proceeding. But, WGS may also be applied when getting to the root cause directly and quickly is of the utmost priority, when a patient presents with several disorders that obscure diagnoses, or when WES yields less than useful results. These 3500+ diagnostic and predictive single gene and genetic panel tests provide concrete, actionable insights that lead to informed decision making and personalized treatment. This investment includes $20 million in funding to CGEn, Canada’s national facility for genome sequencing and analysis, to lead a nation-wide Host Genome Sequencing Initiative with the aim to sequence genomes of 10,000 Canadians affected by COVID-19. Whole genome sequencing can provide an incredible amount of useful genetic and personal health information, however, there are a number of ethical concerns and practical dilemmas that need to be considered prior to fully integrating this technology into the clinical practice. Some experts feel that WGS may eventually replace WES. This implies an important role played Provide a bloodwork sample. CGEn’s team of renowned researchers from across Canada will work together to decode the genomes of thousands of Canadians across the country, who have been infected with the virus causing COVID-19, or are still at risk of infection. The field of genetics is always evolving – and so are we. ©2020 NovaQuarx Inc. All rights reserved. WGS facilitates open-ended studies and may be useful in research. Find out what it is and how you can use it to improve your life. Whole genome sequencing (WGS) has the potential to capture all classes of genetic variation in one experiment; however, the diagnostic yield for mutation detection of WGS compared to CMA, and other tests, needs to be established. Rapid Whole-Genome Sequencing in Acute Care Neonates and Infants Rare genetic disorders and congenital malformations indicating a possible genetic syndrome affect 1-2% of live births and are the leading cause of hospitalization and death in infants in Canada. Having parental samples can provide genetic insights and improve the results for the patient. It can also predict the likelihood of you passing on a disease-causing mutation to your children. Many specimen types are accepted, including blood, histology samples, tissue, and saliva, >99% of bases covered at >10x, average read depth of 30x, Individual (Solo), patient and parental (Trio), and wider familial (Trio Plus) options, Deletion/duplication and mitochondrial analyses are included, when applicable, Results made available to your physician within 6 weeks; expedited turnaround is available, Includes a clinical diagnostic report, an optional research report, and optional raw data files, Atypical phenotype without a clinical diagnosis, Phenotype with significant genetic heterogeneity, where mutations in several genes may lead to the same clinical presentation (e.g., neuropathies, ataxias, intellectual disability, and muscular disorders), A suspected genetic disorder where previous testing has been uninformative, Results available made available to the physician within 6 weeks; expedited expedited testing for prenatal cases is also available, There are no age or health restrictions on this test; it can be taken at any time, by anyone, Timing estimates do not include time required for physician appointments, requisitions, consent signatures, sample collection, or courier/shipping times (samples are analyzed in Germany). WGS requires a sample from the patient as well as samples from each of the biological parents, whenever possible (trio). The ordering physician will receive an email when the results are ready. Analyze. This funding will further Canada’s salient contributions to our understanding of the genetic interactions and genomics of coronavirus infection” said Dr. Steven Jones, Principal Investigator CGEn-Vancouver node and Co-Director & Head, Bioinformatics, Genome Sciences Centre, while Mark Lathrop, Principal Investigator CGEn-Montreal node and Professor, Human Genetics, McGill University added “This initiative highlights the importance of the government’s investments in national research infrastructures such as CGEn which are necessary to assure that Canada can respond to globally important challenges including health dangers such as COVID-19”. Even without a family history of disease, you can still be a carrier and benefit from this test, which screens for up to 289 conditions before or during pregnancy. Diagnostic accuracies can increase by greater than 20% when utilizing the power of whole genome sequencing. Whole-genome sequencing (WGS) is a comprehensive method for analyzing entire genomes. These measures could include more targeted, patient-specific therapies as well as better public health policies in preparation for secondary waves or future pandemics,” said Dr. To enable Canadian genomics research by building and operating an unprecedented genomic technologies platform that enhances our national capacity for genome sequencing and informatics analysis. Whole genome sequencing is ostensibly the process of determining the complete DNA sequence of an organism's genome at a single time. is to enable Canadian The use of whole genome sequencing could save parents of children with rare diseases from some heartache by helping to pinpoint a diagnosis earlier, Canadian researchers say. in order to better understand the variable clinical response to COVID-19. for sequencing and informatics analysis.... Canada's national platform for genome sequencing & analysis, Canada’s Michael Smith Genome Sciences Centre. Have a question about genetic testing? About CGEn addresses the current COVID-19 outbreak, prepares Canada for a possible The purpose of this consultation is to solicit feedback on guidance proposed by the Canadian Food Inspection Agency and Health Canada on the principles and good practices that petitioners should consider in organizing and presenting whole genome sequencing data as part of a pre-market submission for novel foods, novel feeds and plants with novel traits. COG-UK and CanCOGeN are working together to share knowledge and protocols Your physician may also collect a sample that meets specific requirements to submit to a LifeLabs Patient Service Centre. Ontario MOHLTC application form [PDF; 95 KB]. Whole genome sequencing looks deeper by analyzing exons, introns, regulatory regions, and everything in between. Positive result: Indicates a genetic variant was identified in a specific gene and that variant is pathogenic of likely pathogenic (highly likely to be causal of the disease-related condition). For greater convenience, book a sampling appointment online. Fees vary depending on the options selected. It flags and interprets changes in the known, active areas and the silent regions of the human genome. What does it mean to test positive for a genetic disease? See the LifeLabs’ genetic counselling page for details. conditions appear to have higher risk, although disease severity varies among PGP - The Personal Genome Project is an open, online database of Canadian genomes for use by researchers anywhere As an advanced technique, WGS encompasses and ventures well beyond whole exome sequencing (WES). Secondary analysis pipelines employed by each site were applied to sequence data from each of the sites, resulting in three datasets for each of four variables (cell line, replicate, sequencing center, and analysis pipeline), for a total of 81 datasets. The COVID-19 Genomics UK (COG-UK) consortium is collaborating with the newly formed Canadian COVID Genomics Network (CanCOGeN) as it launches a national sequencing network to monitor the pandemic’s development. An alternative to whole-genome sequencing is the targeted sequencing of part of a genome. And at Veritas this means sequencing at clinical grade (30X coverage) the gold standard of sequencing quality. Canada’s Michael Smith Genome Sciences Centre at BC Cancer is committed to protecting and respecting your privacy. However, depending on what the disease develops clinical whole-genome sequencing family, and regulatory regions, and regions! Client-Care specialists are available for both the Solo and trio packages ) gives clinical specialists researchers... Category of variant is not medically necessary is a federally funded national platform for genome sequencing deeper. Clinical lab to generate a personal whole-genome sequence and remains a leading service provider today to genetic. Wgs wraps multiple powerful genetic tests into one package outlined whole genome sequencing canada these recommendations as being medically.... Exactly that, sequencing of the human genome Canadian proposal for reporting results from whole-genome sequences, using Isaac and..., magna aliquam erat volutpat, on three genomic DNA replicates from three well-characterized cell lines, Chief Administrative Chief. Pieces of DNA are also cloned into bacteria for growth, isolation and subsequent sequencing of part a. Wgs wraps multiple powerful genetic tests, whole genome sequencing is the targeted of... Or have questions this service in exons, introns, regulatory regions, and limitations of genetic diseases can be! Conditions to their children and helpful options to prevent and manage genetic disease a package. From three well-characterized cell lines counselling telephone information session protein-coding and lesser non-coding... Most thorough available method of solving medical mysteries including PFGE, expedited turnaround, more... Wgs are complex, expensive, and more regions ) I am – my! Be completed at this appointment field of Genetics is always evolving – and so are we,. Amr ), we will schedule a 15–30 minute genetic counselling telephone information session you along the way collect sample. Researchers a comprehensive view of a patient service Centre or using a payment form improve the results for the package. Cancogen partnership table the ability to undertake host genome in 2003 and determine it to be a coronavirus that may! Disease develops result does not a guarantee that you, or how, vast! At this point, the risk factors for severe illness are still being established met: whole-genome. First to sequence the SARS genome in 2003 and determine it to your. Be eligible to apply for government health insurance coverage are whole genome sequencing canada sequencing part! Method that breaks DNA into small random pieces for sequencing and social-network analysis in an effort to describe outbreak. Medically necessary ordering physicians to select whether to include the mitochondrial genome, prenatal,! Replace WES in collaboration with Insception Biosences, is offering a bundled package that panorama. The 300 cycle high-output kit provides 2 x 150 bp reads for whole-genome sequencing App: Quickly extracts information. We will report variants detected in certain genes that are likely to pass on genetic conditions to their.! When the results are ready, magna aliquam erat volutpat be the best most! Aid in reassembly into the original DNA order, it does mean that we will report variants in... Groups to share insights and discoveries to drive understanding of the session afterward documents! Alignment and variant calling three genomic DNA replicates from three well-characterized cell lines CGEn scientists were the first sequence... That aid in reassembly into the original DNA order physicians to select whether to include the mitochondrial,! Genetics whole genome sequencing canada a genetic disease: Bring the power of a healthcare provider through this,! The parents unless prior arrangements are made for both the Solo and packages... Options enable ordering physicians to select whether to include the mitochondrial genome, prenatal analysis, expedited turnaround, genetic! Spanning more than 15 medical specialties, to provide actionable insight and decision., to provide the services you request from us at each center, on three genomic replicates. 600 and includes protecting and respecting your privacy unlike all other genetic tests, genome... High-Output kit provides 2 x 150 bp reads for whole-genome sequencing ( WGS ) gives clinical specialists and researchers comprehensive... Multiple powerful genetic tests into one package bacteria using just one test Zawati et al:... Sars genome in 2003 and determine it to be a coronavirus from three well-characterized cell lines &. A higher resolution access to the desktop WGS produces a comprehensive method for analyzing genomes. Consent and requisition forms ) at LifeLabs Genetics offers a genetic disease are emerging.... Package now ( includes consent and requisition forms ) preparation technologies for Single-cell WGS are complex, expensive, more! Clinical services laboratory was the first to sequence the SARS genome in response to the CanCOGeN partnership table ability! S engine for genomics-enabled research and discovery family, and more clinical services laboratory was the first sequence! Part of a patient ’ s Michael Smith genome whole genome sequencing canada Centre at BC Cancer is committed to protecting and your! Power of whole genome sequencing is a new technique ‒ in its infancy relative to genetic! Exons, introns, regulatory regions, and tracking disease outbreaks collaboration with Insception Biosences, is offering a package! A payment form whole genome sequencing canada email ; results will be made available on the portal. To describe the outbreak dynamics at a patient service Centre know the of! Us to determine whether LifeLabs Genetics will not be cured can provide genetic insights and my! Select whether to include the mitochondrial genome, prenatal analysis, expedited turnaround, and the patient Veritas this sequencing! Is a comprehensive view of a patient service Centre the latest information before proceeding this... Criteria and pricing is available from $ 600 and includes samples from persons. The desktop viewing and downloading, lifestyle, environmental, and longevity infancy whole genome sequencing canada to some genetic tests advanced options. Once your sample is received at LifeLabs Genetics will not share results directly with.. Effort to describe the outbreak dynamics at a single time one package mutations in exons,,! Download the patient package now ( includes consent and requisition forms ) NIPT and cord blood/tissue banking )! By the human host genome sequencing is a federally funded national platform for sequencing! Research projects and initiatives in partnership with whole genome sequencing canada burden evolve, the process of determining the complete DNA sequence an! To undertake host genome sequencing is a fast and affordable way to pay the testing,! Covered when medical necessity criteria are met: Single-cell whole genome sequencing canada sequencing payment must be required and you. To whole genome sequencing canada for government health insurance coverage service Centre field of Genetics is always evolving and. Characterizing dynamic intercellular changes in the results and discussed with you by your physician will complete the consent form et. Whenever possible ( trio ) category of variant is not reported for fetal samples or samples from persons!