myNewborn myNewborn Genetic screening test for actionable childhood-onset diseases myNewborn offers early screening for genetic diseases that appear during the first stages of life, providing key information for preventive management, diet or early treatment. The test complements the conventional heel prick test, improving clinical utility. The test is indicated for newborns and children in the first years of life who do not present symptoms of genetic disease and is performed on blood or by buccal scraping with a specific device provided by Veritas. myNewborn is key to personalise medical management from day one. Significantly ampliiies newborn screening procedures, such as the required heel prick test Allows to prevent the development of many diseases Based on findings from the BabySeq project For healthy babies Selection of diseases The test performs whole exome sequencing and subsequent analysis of more than 400 genes related to more than 390 metabolic and genetic diseases of early childhood onset. The diseases have been included based on the following criteria: Highly actionable with onset during infancy.Included in the biochemical newborn screening test.With adult onset, but where intervention is possible during childhood.With a carrier frequency greater than 1/100 even if untreated, with the aim of knowing the prognosis and making informed decisions for future pregnancies. The diseases are classified into different groups including: MetabolicSyndromicPulmonaryMusculoskeletal HematologicEndocrineNeurologicalCardiovascular DeafnessImmunologicalCancerUrogenital The intervention to these diseases can be performed through the following types of management: Preventive management Early management Dietary management Other types of intervention Are you interested in myNewborn 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 myNewborn myNewborn is an extension of routine neonatal biochemical screening, increasing the number of metabolic and genetic diseases analysed for intervention through nutrition or other procedures during early infancy, improving the health of the newborn. Requires a routine blood sample, cord blood or buccal swab collected with a kit provided by Veritas. Analyses the newborn’s DNA using advanced sequencing technology which provides reliable results. myNewborn is for any baby without disease symptoms as part of the medical care. BabySeq project provided key data on genetic diseases in newborns, revealing that around 10% of the babies tested had genetic alterations that increased the risk of developing a childhood-onset disease. This project, based on newborn genome sequencing, and funded by the U.S. government, aims to integrate genomics into clinical practice for both healthy and ill neonates. myNewborn clinical application examples Pathology Symptomatology Patient Management Result G6PD DeficiencyGlucose-6-Phosphate Dehydrogenase. Hemolytic anemia when beans, sulfites, specific drugs or food colorings are consumed. Dietary modification avoiding specific foods and drugs. Child without symptomatology. Familial hypercholesterolemia (LDLR). People with mutations in this gene can present early cardiovascular diseases since infancy. Dietary modification and medication. Prevention of cardiovascular disease. Supravalvular aortic stenosis(ELN gene). Aortic narrowing that can lead to the collapse of the patient. Patient monitoring and when need, perform surgical procedure to widen aortic lumen. Prevention of patient collapse. Alport syndrome(COL4A5, COL4A3, COL4A4 genes). Increased risk of kidney failure due to collagen alteration. Monitoring and pharmacological treatment when kidney function is reduced. Maintenance of kidney function. Are you interested in offering myNewborn from Veritas? Contact us and find out how we can work together. CONTACT US MEDICAL BROCHURE Advice to the specialist Veritas offers a differential service by providing advice to the specialist for the interpretation of your patient’s results, whenever you need it. Frequently asked questions about myNewborn How does the myNewborn test work? myNewborn is a genetic sequencing test that is performed from a simple saliva sample. We sequence the entire exome (Whole Exome Sequencing) and issue a results report, the impact of which must be assessed by a specialist. All our tests must be prescribed by a doctor, and include pre and post test genetic counseling. Is myNewborn suitable for all ages? myNewborn is a test that is designed for children from the moment of birth, to know the risk of early-onset genetic diseases. The sooner the test is performed, the sooner the child can benefit from the findings. 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.health. Interpretation of genetic reports should always be done during a consultation with a genetic counselor to help you understand the information. 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 benefit No, 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.