myGenome myGenome The most complete preventive genetic test for healthy people myGenome is the whole genome sequencing and interpretation service to prevent disease and improve the health of your patients. The test is designed for healthy individuals who are proactive in their health care. What is included with myGenome? The report includes actionable information in the below categories, always managed through pre and post test genetic counselling. +650 Clinical outcomesInterpretation of genes related to actionable conditions that have an impact on an individual´s health. +225 Carrier statusAnalysis of more than 200 conditions that can be passed on to children. +150 PharmacogenomicsStudy of the metabolism of more than 150 drugs. +15 Multifactorial diseasesConditions where both genetic and environmental risk factors are involved. +50 Genetic traitsIndividual characteristics influenced by genes and environment. AncestryAnalysis of variants in the DNA to establish the ancestry background. What kinds of diseases are tested? The test has a special focus on cardiovascular diseases and cancer risk. Diseases within the following categories are reported as part of the analysis: We analyse information recommended by leading genetics societies as well as information related to actionable diseases that can be prevented or better managed through early detection. What does the report include? We provide a comprehensive report with the following sections: Clinical outcomes.Interpretation of 566 genes related to more than 650 conditions that may have a major impact on the patient’s health.Carrier status.Analysis of more than 200 conditions for which the patient may be an asymptomatic carrier.Multifactorial diseases.Complex pathologies that depend on genes and environment.Pharmacogenomics.Study of genes related to metabolism, secondary targets and transporters to understand the effect of more than 150 drugs on the patient.Genetic traits.Individual characteristics influenced by genes and environment.Ancestry.Analysis of DNA variants to establish the genetic origin of the patient’s ancestors. Are you interested in myGenome but you do not have a doctor that provides the service? Our medical professionals can help you. Please click on the below button to learn more. FIND OUT MORE DOWNLOAD THE BROCHURE Advantages of myGenome SEQUENCING + GENOMIC DATA STORAGE The data used for the myGenome analysis is sequenced once and can be utilized for future updates as scientific knowledge advances, becoming a resource for life. Diseases that can be prevented or better managed through early detection, selected by a medical team from the Personal Genome Project and Harvard University. Test with clinical utility that can be utilized by the specialist to adapt and personalize healthcare management. Expert geneticists in variant analysis who perform the interpretation based on the most current scientific knowledge with public, private and the Veritas proprietary database. Comprehensive report with detailed information that is easy to understand for the patient. Differential service of expert genetic counseling in various medical areas. Support to specialists and patients. Why is whole genome sequencing important? Whole genome sequencing not only gives a more complete picture, but also provides you with a resource that you can refer to again and again. 17% 17% of people have genetic variants that increase the risk of diseases.1 20% Up to 20% of cancer cases are related to hereditary factors.2 20% Around 20% of sudden cardiac deaths are due to genetic abnormalities.3 5% 5% of patients are hospitalised for adverse drug reactions.4 86% 86% of people are asymptomatic carriers of a monogenic disease that can be transmitted to their offspring if the partner is a carrier of the same disease.5 6% 6% of the population has an increased risk of hereditary thrombosis.6 Bibliographic references 1Hou YC et al. Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging. Proc Natl Acad Sci U S A 2020 Feb 11;117(6):3053-3062.2https://seom.org/informacion-sobre-el-cancer/consejo-genetico.3Orland KM et al. Molecular Autopsy for Sudden Cardiac Death: Current State and Considerations. Curr Genet Med Rep 2019;7:145–152. https://doi.org/10.1007/s40142-019-00170-x.4Bouvy JC et al. Epidemiology of Adverse Drug Reactions in Europe: A Review of Recent Observational Studies. Drug Saf 2015;38:437–453.5Hou YC et al. Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging. Proc Natl Acad Sci U S A 2020 Feb 11;117(6):3053-3062.6MacCallum P, et al. Diagnosis and management of heritable thrombophilias. BMJ 2014;349:g4387. Technical information Genome sequencing with Illumina Nova Seq 6000 platform with an average depth of 30X (gold standard for genome sequencing).Analytic sensitivity is 99% for SNVs* and 97.6% for small insertions/deletions (6 bases).Analysis and variant classification based on internal and external databases (ClinVar and HGMD**).Variant curation performed by our dedicated expert team with proprietary software developed for detailed variant classification. Do you want to learn more about the myGenome service through real life clinical cases? Our stories are provided through patient and doctor experiences. LEARN MORE Are you interested in offering myGenome from Veritas? Contact us and find out how we can work together. CONTACT US DOWNLOAD THE BROCHURE Frequently asked questions about myGenome? How does the myGenome test work? myGenome is a genetic sequencing test that is performed from a simple saliva sample. We sequence the entire genome (Whole Genome Sequencing) and issue a complete report of the results. All our tests must be prescribed by a doctor, and include pre and post test genetic counseling. How long does it take to receive my results? The entire process from receiving your sample, analyzing the information, and producing your results takes between 12 and 14 weeks. The estimated delivery time varies because every person’s genomic information is unique and may require different degrees of analysis. Is myGenome suitable for all ages? myGenome is a test that is designed for healthy people of legal age. For a genetic analysis in minors you have myNewborn, a genetic screening test focused on the most frequent genetic pathologies that appear during childhood. Are all genetic tests the same? There are tests that analyze specific positions of your DNA, but they do not study complete genes or the entire genome, these tests are usually cheaper and are known as genotyping tests. If we compare them with a book it would be something like this: In both cases, the data is real! But the information obtained is totally different. In the first case, if we know what to look at exactly, we will probably get interesting information, although we will leave a lot of information unanalyzed, so the clinical utility is very limited. This may not be visible to the naked eye in the report, but your entire genes are not being analyzed. On other occasions, the tests sequence the entire genome but do not have teams of professionals in the interpretation of variants, so they include in the report everything that appears in public databases without review and therefore without a final classification. Many of these variants have no clinical utility, so the doctor cannot adapt the medical management and cause unnecessary alarm in the healthy patient. Do I need a doctor’s prescription to have the analysis? myGenome is a genetic test that provides clinically important information. For this reason, the test requires a prescription. If you cannot obtain the prescription from your doctor Veritas can provide a genetic counseling consultation (included with the test) and a geneticist will evaluate your case and provide the prescription. What is Whole Genome Sequencing (WGS)? Whole genome sequencing is reading the billions of letters in your DNA, a long chain made up of As, Ts, Cs, and Gs. All your genes are encoded with this 4-letter code, so we analyze your sequence and subsequently look for changes or variants in the genes. What is the NGS? NGS comes from the English term, Next Generation Sequencing, and is used to refer to the set of technologies used to sequence millions of DNA fragments in parallel, improving response times and the cost of genetic tests. Before the implementation of NGS sequencing, sequencing a genome cost millions of dollars. What is DNA? DNA is the genetic blueprint of life. It is a complex molecule that is found within every cell of our body and contains all the necessary instructions to create and maintain life. It is an information storage system, a code written with four letters that represent four molecules: adenine, thymine, guanine and cytosine. The complete sequence of these chemicals makes up our genetic code, our genome. A single DNA molecule contains around 6 billion A’s, T’s, C’s and G’s, in fact, if you could unfold a DNA molecule it would measure almost 2 meters. Why sequence the entire genome? Whole genome sequencing allows all your genetic material to be read by creating a library about you. In this way you will be able to know the relevant information today to prevent and have access to updates in the future, accessing your library again. This trip makes it possible that from now on you can personalize, with the help of your specialist, your health care based on what makes you unique: your DNA. What does it mean to have a genetic variant? All people have thousands of genetic variants in their DNA, but it doesn’t mean that they will develop a genetic disease. There are variants that simply make us unique, others that slightly increase our probability of developing a disease, and others that require medical attention because they pose a risk to our health. Interpretation of genetic reports should always be done during a consultation with a genetic counselor to help you understand the information. Is it bad to be a carrier of a genetic mutation? Each person can present alterations and variations in their DNA that give them characteristics that make them unique. Detecting these variations is a benefit since it will help to establish guidelines and opportune measures to reduce the possibility of developing the disease and / or treat it in an anticipated and more effective way. Will I suffer from a certain disease because I am a carrier of a disease of genetic origin? Each person can present alterations and variations in their DNA that give them characteristics that make them unique. Detecting these variations is a bNo, being a carrier of a genetic disease is common. Humans have two copies of each gene. Being a carrier means that you have a genetic variant in one of the copies of a gene associated with a recessive disease. In other words, it has one copy of the gene that works and one copy that does not work. Recessive diseases require that an individual have two variants (the two copies of the gene that do not work) to develop the disease, therefore, you are a “carrier” of a variant, but are not at risk of developing this disease. However, knowing this information is very important since you are at risk of having children affected by this disease if your reproductive partner is also a carrier of the same pathology. Can my genome change over time? No. The genetic information of a person does not change, what advances is scientific knowledge for which fortunately we know more every day. For this reason, the genome is a resource for life and that can be consulted over time to find out new findings that have been produced thanks to the advancement of scientific knowledge. Why does pricing for genetic tests vary so much? The cost of a genetic testing service is related to the technology utilized and the amount genetic expertise is required to provide the result. There is a direct correlation between the amount of DNA information analyzed and the more clinically impactful and reliable the result will be. At Veritas we use whole genome sequencing that allows for the capture and analyzing of all of a person’s DNA. Because the information is so valuable and can significantly impact a person’s future healthcare, we believe it should be managed by a medical professional. We support either directly or in collaboration with the prescribing physician the pre and post-test genetic counseling process where the results are explained and an action plan is established to fully benefit from the information provided. What are chromosomes? DNA is not dispersed in our cells, it is carefully packed into structures called chromosomes. We have 46 chromosomes in total, half inherited from our mother and half from our father. Located on these chromosomes are segments of DNA called genes, many of them contain instructions for making proteins, and it is these proteins that determine everything about us, from the color of our eyes to our susceptibility to disease.