Germline full genome + Tumor full genome / transcriptome sequencing

Germline full genome + Tumor full genome / transcriptome sequencing

  • $15,999.00
    Unit price per 

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A germline full genome + Tumor full genome / transcriptome sequencing DNA/RNA test assesses the entire DNA within the cancer patient’s inherited and tumor genomes, plus all of the RNA captured from tumor sample and uses the assessment towards the identification of cancer treatment.

In order to obtain the DNA testing kit under medical supervision (required), the purchased test includes a bill to be presented at your selected clinic. Test prices can vary between different medical clinics. PATHOGENIC RESULTS WILL REQUIRE A GENETIC COUNSELING SESSION PRIOR TO MEDICAL MANAGEMENT.

Clients will also be given a checklist of topics to facilitate informed consent. Test purchase should take place after consultation with a Merogenomics representative in order for the client to be best prepared for informed consent. Informed consent and education towards its understanding will be required by the clinic. IF YOU HAVE NOT CONSULTED MEROGENOMICS ABOUT YOUR DNA TEST PLEASE BOOK A FREE APPOINTMENT USING THE LINK BELOW PRIOR TO TEST PURCHASE!

All international or Canadian clients in a region without a supported medical clinic, please book a meeting with Merogenomics to discuss the use of your preferred local doctor.

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In attempting to capture the entire human DNA sequence information, full genome sequencing is the most comprehensive method of screening for DNA alterations that could be involved in cancer development predisposition, which is information that can be influential for cancer treatment purposes. In addition, the tumor genome is also fully sequenced to uncover the potential causative mutations of disease development. Transcriptome sequencing is the process of decoding the order of nucleotide bases in the entire population of RNA that is captured from tumor cells. RNA is the intermediary blueprint generated from using the DNA code, and is used for the production of all of the proteins in the cell. The study of RNA products in tumor cells adds an additional layer of information about the cancer development process. Test prices can vary between different medical clinics. Volume discounts available.

 

  • Whole genome sequencing (including nuclear and mitochondrial DNA), provides the most comprehensive view of alterations in an individual’s DNA code. This process can be applied for normal cells as well as cancer cells. Transcriptome sequencing provides the most comprehensive view of RNA products captured from tumor cells. RNA is the precursor blueprint for the production of proteins, and thus informs which genes in the genome DNA are being used by the cells. Apart from confirming the alterations that have taken place in the DNA, it can also reveal alterations at the RNA level that would not be captured with DNA sequencing only
  • This test is used for clinical purposes and should not be regarded as investigational or for research
  • The test must be ordered by a medical doctor who will oversee the clinical report based on the germline DNA (that is the DNA inherited from one’s parents), as well as tumor DNA and RNA sequence interpretation
  • The test is for individuals diagnosed with cancer who are interested in proactively screening tumor biopsy molecular information (including both DNA and RNA), along with their own genome in order to determine if a genetic diagnosis of cancer development can be uncovered, leading to potential medical management changes
  • This test is not for presumed healthy individuals looking to screen themselves for cancer predispositions. Please to refer to the “Hereditary predisposition to cancer” section
  • Anonymized patient/client clinically-relevant information will be included in public databases to help with the future medical analysis of human genomes. Databases contain cumulative results from around the world and do not include information that can personally identify the patient/client
  • This test only provides diagnosis results relevant to the cancer condition being analyzed. The test does not provide secondary findings or pharmacogenomic findings except for those related to cancer treatment. This test does not provide information on traits that are not medically relevant, such as eye color, fitness performance, and tasting. The test does not analyze ancestry. The patient/client will always have an option of analyzing their DNA for any additional purposes by an independent third-party. Merogenomics recommends checking the quality of any company prior to submitting DNA results for such additional analysis, and determining whether there is scientific validity behind the information being investigated
  • The test might not provide a diagnosis if the causative variant is not identified. Even with a successful DNA diagnosis, it is possible that the information might not help in predicting the prognosis or change medical management or the treatment of the disease
  • Tests can be paid for directly by the patient/client. Insurance billing is available and can be investigated up-front to determine out-of-pocket expenses. Institutional billing is also available for organizations that prefer to bill patients/clients directly. Financial assistance options are also available

  • Merogenomics provides background education towards patient/client informed consent
  • The collection kit for a blood sample for germline genome analysis with prepaid shipping is included
  • Retrieval of a tumor or cancer sample from a designated pathology lab is included
  • Services are fully insured, as well as HIPAA, CLIA and CAP compliant
  • The results are available in 21 days
  • Laser capture microdissection for specific isolation of tumor cells is performed and will be identified by an in-house pathologist
  • Whole genome sequencing of a tumor or cancer sample plus whole genome sequencing of inherited (germline) genome for the potential identification of:
    • Single nucleotide alterations
    • Insertions and deletions of DNA
    • Copy number variants (number of copies of a gene)
    • Translocations (rearrangement of chromosomes)
  • RNA transcriptome sequencing, to provide information about abnormal protein pathways involved in the growth of cancer
  • Tumor mutational burden and microsatellite instability is analyzed for therapeutic decisions on cancer immunotherapies
  • The tumor or cancer sample and normal/germline sample are tested to ensure that they originate from the same person
  • A concise clinical report signed off by a medical geneticist is delivered to the ordering doctor only, and then subsequently discussed/shared with the patient/client
  • The report provides information on the patient’s best-matched FDA approved therapies and active clinical trials, and therapies to which the cancer may be resistant to
  • An incidental findings screening can be requested on 22 cancer medically relevant genes, including inherited genetic risk factors for particular types of cancers and other medical conditions. Certain conditions apply
  • Reports are made available for the ordering doctor via a secure web portal
  • Access to support for both patients and treating physicians is available
  • The databases used for genome DNA sequence interpretation are updated on a quarterly basis, and if novel findings pertaining to currently unknown variants identified in a patient/client  are available, the ordering physician will be continuously notified for the duration of the genome’s storage by the company

  • Provides an increased accuracy of identified molecular targets through the comparison of findings in a germline/normal genome versus a tumor genome and transcriptome
  • Cancer molecular diagnosis can point to specific targeted therapy treatments or medical care management, resulting in:
    • The avoidance of ineffective therapy usage
    • A decrease in treatment cycles through improved selection
    • Reduced use of traditional chemotherapy and radiation
    • Improved treatment outcomes with higher survival rates
    • Fewer, and less severe, treatment side-effects
    • The potential to increase clinical trial participation
  • The diagnosis might influence the considerations of additional family members regarding testing, or affect reproductive decisions to avoid passing the same DNA alterations to future offspring
  • Only a single whole genome sequencing test is required for an individual. The complete sequence information captured in the test allows for an unlimited number of future data reanalysis as more scientific evidence is uncovered, or as new health symptoms materialize, so it provides the best ROI for the investment made. Whole genome sequencing captures small sequence changes, structural variants, tandem repeat expansions and mitochondrial variants, both in the coding and non-coding regions, all in a single test
  • The patient/client data is securely stored on cloud for subsequent re-analysis. Data is never sold, or shared with any third-parties unless specifically requested by patient/client. Such data-sharing would require a separate consent form to be signed by the patient/client in addition to the one that is signed to obtain the test
  • The entire process closely follows the Canadian and American guidelines, therefore there is a high level of proper accountability for the clinic

  • This test is utilized for solid tumors only
  • The “entire genome sequence” refers to the current feasibility of technology, as an entire genome is actually not decoded because no technology currently exists to be able to sequence the full human reference genome. It is not known how much of the human genome remains undiscovered, but estimates range between 2-8%. In addition, the current technologies generate data that typically includes over 98.5% of the known human genome
  • Biological sample quality can influence the scope and quality of the final decoded DNA sequence data, and therefore its interpretation
  • It is never possible to guarantee that every DNA change in the genome will be found, therefore a negative result cannot rule out the possibility that the patient carries an unexamined mutation
  • Certain alterations or variants might not be identified due to the presence of highly homologous pseudogenes (which is the presence of inactive genes that are highly similar in sequence to active genes), or other confounding factors such as bone marrow transplantation, blood transfusion, or mosaicism (the presence of different variants in a subset of cells in an individual)
  • The limitations of the sequencing technology might not allow for the complete uncovering of large structural changes within the genome, and might require additional technologies in order to be achieved. Genome sequencing typically focuses on the small sequence alterations and might have a limited scope in the analysis of the gross alterations (such as a segment of a chromosome inverting or moving to a new location)
  • False positive results can occur and all clinically relevant identified alterations are recommended to be validated by separate technology
  • The incidental findings screening test does not comprehensively evaluate the selected genes for all types of alterations that may have clinical consequences, and genetic abnormalities could be present that are not tested for
  • Each patient will present their own unique read depth distribution across the assessed genomes, which might not be sufficient enough for the accurate analysis across the span of the entire genome
  • Genomic DNA and/or RNA results may be delivered with alternate technology platforms if an insufficient quantity is available for whole genome sequencing
  • The test does not detect alterations which are not caused by a change in the DNA sequence, such as gene expression, epigenetic modifications, fusion, chromosome conformational changes, or X-linked recessive mutations in females who manifest disease due to skewed X-inactivation
  • The interpretation will be limited to the current state of scientific knowledge of how DNA changes lead to a disease. This scientific knowledge can also contain mistakes
  • No prior medical records or test results are analyzed
  • Samples cannot be accepted if the patient/client has undergone an allogenic transplant such as bone marrow or a peripheral stem cell transplant. A history of hematological disease might exclude test availability in certain circumstances. Contact Merogenomics to discuss potential alternatives
  • Psychological consequences can be severe with high risk individuals and patients/clients should be screened prior to testing
  • The test has not been cleared or approved by the US Food and Drug Administration. The FDA does not require this test to go through a pre-market FDA review

  • All tests offered through Merogenomics require a physician to sign a test requisition for regulatory compliance reasons. Once the requisition form is signed by the doctor, the ordering doctor does not have to participate in the process until the receipt of the test results
  • Merogenomics can provide detailed background information to the ordering physician about the test process. In addition, Merogenomics provides background education towards patient/client informed consent
  • This test is a screening test for individuals diagnosed with cancer to determine if a solid tumor molecular diagnosis can be uncovered, leading to potential medical management changes
  • It is recommended by genome sequencing guidelines that the patient/client undergoes genetic counseling prior to clinical DNA testing
  • The DNA and RNA sequencing takes place in a CLIA/CAP certified laboratory. The interpretation of the DNA data is based on public and private databases of clinical past observations. The final results are overviewed and signed by a board-certified medical geneticist prior to delivery to the doctor. This provides one of the highest levels of regulatory oversight towards the generation of clinically meaningful genomic results for patient medical management
  • The patient data is HIPAA compliant, securely stored on cloud for continuous re-analysis, and never sold or shared with third-party companies
  • The ordering physician will obtain access to the data with an easy-to-use web console during and post genome sequencing with all of the clinically relevant results available
  • The ordering physician will be the recipient of the genome sequencing analysis clinical report. The patient/client will not obtain these results independent of the ordering physician. The patient will not gain access to the web-based portal or the final report. Therefore, the ordering physician will be providing the information contained in the report to the patient/client. Merogenomics will not have access to the patient/client’s report, but can review the report after the receipt of the data if requested by the patient/client
  • The report is designed with doctors in mind and will be divided into the following sections:
    • The first page will have a condensed summary listing all of the clinically relevant results as follows:
      • Pathogenic or likely pathogenic results – therapeutic agents targeting the identified alterations are listed
      • Incidental findings – additional findings that may have medical utility for the treating physician, including inherited genetic risk factors for particular types of cancers and other medical conditions as recommended by the American College of Medical Genetics and Genomics guidelines
      • Follow-up recommendations
    • The remaining pages will list details about each of the mutations and the corresponding condition, methods of testing, limitations of the procedure, and clinical trials potentially available to the patient
  • Automated periodic reanalysis of unsolved cases. The ordering physician is notified if any new findings related to the case arise
  • Samples cannot be accepted if the patient/client has undergone an allogenic transplant such as bone marrow or a peripheral stem cell transplant. A history of hematological disease might exclude test availability in certain circumstances.
  • For cancer patients undergoing chemotherapy treatment, DNA quality may be affected if the patient has received treatment in past 120 days, potentially requiring sample resubmission

  • DNA and RNA sample is sequenced using Illumina platform
  • There is more than 95% sensitivity and 99% specificity for the detection of somatic RNA variants
  • State of the art bioinformatics tools are used for alignment and somatic and germline variant calling
  • Proprietary methods identify and analyze the following types of variants:
    • Small sequence changes
      • Single nucleotide variants (SNVs, alterations that affect only one nucleotide at a time, also termed single nucleotide polymorphisms or SNPs)
      • Insertions and deletions (indels under 50 bp)
    • Structural variants (DNA alterations that affect large segments of DNA of more than 50 bp, and can include insertions, deletions, inversions, translocation, breakpoints or copy number variations or CNVs: the duplication of a particular DNA segment)

  • Access to a genetic counselor is available before and/or after the receipt of the test results for an additional cost. This is highly recommended, especially after the results are revealed
  • Liquid biopsy testing can be added for concurrent tissue and blood profiling, with test results available within 7 days. Contact Merogenomics for more details
  • Volume discounts are available starting with a minimum of five samples. Contact Merogenomics for more details

Purchase of the test can be refunded within 30-days of issued invoice date minus $50 processing fee to cover the costs associated with testing kit (even if the kit was not used by the customer). A refund is not available once the sample has been obtained by the laboratory and DNA testing has commenced.

Dr. Denis Vincent Clinic

138-8627 91 St NW, Edmonton AB

United Health Centres Clinic

7609 109 St NW, Edmonton AB

Please contact us if your clinic is interested in providing access to DNA testing.