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WES/CES/PANEL Patient Information and Consent Form

  • Ana Sayfa
  • WES/CES/PANEL Patient Information and Consent Form

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Consent Form

Definition and Purpose of Whole Exome Sequencing (WES), Clinical Exome Sequencing (CES) and Panel Testing Whole Exome Sequencing (WES) involves extracting the DNA sequence of approximately 180,000 exons, which are parts of the approximately 20,000 genes found in the human genome. Clinical Exome Sequencing (CES) is a process that sequences about only 5,000 genes in the human genome that have been proven to cause diseases. Panel Sequencing focuses on sequencing specific groups of genes associated with a patient's indication. The number of genes in these panels varies depending on the clinical condition. In WES, CES, and panel tests, the DNA sequence obtained using Next Generation Sequencing technology is compared with the reference human genome. The molecular genetic changes that are suspected to be the cause of a disease through informatics analyses are evaluated. Mitochondrial DNA (mtDNA) is a double-stranded structure that is 16,569 base pairs long and contains 37 genes, and is located in an organelle other than the nucleus in the cell. MtDNA is inherited from the mother. Mitochondrial diseases show clinical and genetic heterogeneity due to homoplasmy and heteroplasmy. Only point mutation analysis is performed in the mitochondrial DNA disease panel.
The whole process of testing is specific to the genetic situation of interest and does not give information about the whole genetic structure of the individual. The Whole Exome Sequencing Test cannot analyze all exons in the human genome because of various technical reasons. This test does not guarantee that the test takers, other family members and/or children to be born will be completely healthy. Other genetic or non-genetic diseases cannot be excluded in cases where the test results cannot explain the disease-forming change and are interpreted as normal. The accuracy of this test can be influenced by previous bone marrow transplantation, recent blood infusion, or other therapies that may add external DNA to the blood sample. The DNA used in this test is extracted from the blood instead of germ cells, and therefore there is a possibility of a change in outcomes due to chimerism (at least two different sets of DNA) , which may rarely be observed. While this test can detect point mutation and small deletion/duplications (<20bp) at exon and exon-intron junctions, it cannot detect changes in unexamined regions (regulator, promoter, deep intronic, etc.), major deletions/duplications and complex rearrangements, balanced translocations, repetitive sequence regions, copy number changes, mosaicism, mitochondrial DNA mutations, epigenetic changes such as methylation disorders. The coverage and reading depths at the exon-intron junction may vary. Almost all of the bioinformatic analyzes of this DNA-based test are based on foreignbased databases, and in most of these diseases, there are few or no defined mutation profiles and/or polymorphic characteristics for the population of our country. In the test reports, Pathogenic, Likely Pathogenic, or Uncertain Significance Variants, variants that are considered to be related to the phenotype according to the ACMG (American College of Medical Genetics and Genomics) criteria are listed. Additionally, Variants of Uncertain Significance (VUS) are further classified as "Strong Variants of Uncertain Significance" and "Weak Variants of Uncertain Significance." Variants that may potentially be proven to cause disease with additional studies are classified as "Strong Variants of Uncertain Clinical Significance." While Strong Uncertain Significance Variants are reported, Weak Uncertain Significance Variants are not. These variants should be evaluated with current data in terms of their association with the disease being tested. A variant whose pathogenesis is not understood at the time of the report and not listed in the report can be classified as pathogenic by scientific studies over time. Rare polymorphisms may lead to false positive/ negative. Therefore, the positive/negative results should be evaluated by the physician in accordance with the clinical findings and if necessary, confirmed by other diagnostic methods.
To perform these tests a blood sample of at least 2ml at EDTA tube should be taken from the individual undergoing the test. This blood sample is usually taken from the veins of the arm. In cases where the sample is insufficient, or the acquired DNA is at a level that cannot be analyzed, the sample can be requested again and the test can be repeated. In addition, additional testing can be recommended for the mother, father and other family members in the presence of any suspicious findings after first analyses or when a genetic carrier analysis is required.
Results The turnaround time for this tests may vary due to technical or analytical factors. It is appropriate to give results with genetic counseling. All genetic data are personel; results will only be shared with the signatory person(s) and the signatory physician. Genetic test results also have findings for family members. If it is found that it carries a mutation/variant in any of the genes analyzed, it may be necessary to test only those mutations/variants with the DNA from the blood taken from the mother and father to determine the clinical significance of these mutations/variants. For this reason, the consents of the parents are taken in this consent form. These results may also cause effects for other family members. This situation should be discussed with the clinician; there may be different opinions about the management options among health service providers, these results cannot be shared with other family members without permission. Genoks Genetics Center is not responsible for any anxiety or psychological problems that may arise during the test or from knowing the results. Genoks Genetics Center may use the remaining blood sample and data for research purposes with personal information concealed to explore biological mechanisms that may contribute to a better understanding of diseases.
In WES/CES testing, the detection of variants in certain genes that are associated with predisposition to serious conditions such as cancer or heart disease, and listed in the ACMG guidelines, is defined as "Secondary Findings," regardless of the indication. The reporting of these results is made according to the request of the person in the consent form. It should be kept in mind that these results may pose a risk to other family members. Genoks Genetics Center is not responsible for the psychological conditions that these results may cause.
The consent form must be obtained from the patient or a legally authorized parent/caretaker to be able to perform this test. This form should also be signed by the physician and delivered to Genoks Genetics Center. 1) I have read the test information form for the genetic screening test applied to me or my child and received the necessary explanations. I saw, read and understood the written explanation of genetic analysis. Learned about genetic basis, probabilities, prevention and treatment of diseases tested. I received information about the risks that I might face during the test process and the limits of the test. I got answered all my questions and I know how much time I need to get the results. I have been informed about the person to contact in case of any questions or concerns. 2) I agree my test results to be shared with my signatory physician. Because of the complexity of DNA-based tests and the importance of test results, I agree that the outcomes will be reported through physicians and that I should contact with the physicians for test results. 3) By signing this form, I consent to Genoks Genetics Center for genetic testing with my blood sample. At any time without specifying the reason I can withdraw my approval completely or partially, and I have the right to not to know the test results. 4) I know that I can request the destruction of the test material with name and the results so far at any time. 5) I consent to the storage and use of unused test material in the laboratory for other genetic tests, provided that my personal information is confidential. 6) I consent to the storage and use of my test results in a statistical database for scientific purposes. I allow my data analyses to be used by Genoks Genetics Center in any report or publication by concealing my personal information. 7) I consent to Genoks to conduct genetic analysis of my blood sample either in its own laboratory or in a domestic or foreign laboratory if necessary.
I consent to the reporting of Secondary Findings in genes listed in the ACMG secondary findings guidelines that are unrelated to my indication (Applicable only to patients undergoing WES/CES).
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