myNewbornDNA sequence the newborn’s exome to detect early-onset diseases before first symptoms appear 21 de March de 2019 by admin2104 Leave a Comment Veritas Intercontinental, subsidiary of Veritas Genetics, “The Genome Company”, has launched in Spain myNewbornDNA, a genetic test of the newborn, based on Whole Exome Sequencing (WES), which allows to determine the presence of some pathogenic variant related to actionable diseases of early onset. But not only, diseases that could appear in adulthood and are actionable, preventable, during childhood, are also analysed. myNewbornDNA analyzes 407 genes related to genetic and metabolic diseases that appear in the first years of life. The test, which is performed from a sample of cord blood or saliva, includes a complete report of results, with detailed information on the variants detected and their implication for the newborn, as well as genetic counseling to the specialist, for a better management and therapeutic approach to the information obtained. myNewbornDNA and heel prick test Currently, after the birth of a baby, he/she undergoes a biochemical screening – heel prick test – of the most frequent metabolic diseases or genetic diseases. Its early detection allows to initiate the treatment to avoid or minimize the severity of the disease. This test, depending on its scope, can detect between 3 and 20 metabolic diseases. “myNewbornDNA -explains Dr. Luis Izquierdo, medical director of Veritas Int.- is a perfect complement to conventional biochemical screening, since it offers a much more exhaustive and accurate information, which allows defining effective health strategies that will accompany the newborn as throughout his life.” According to Dr. Izquierdo, pioneer of clinical genetics in Spain, “advances in the sequencing and interpretation of the genome and exome allow to expand the number of diseases detectable in the newborn, improving its clinical utility in the prevention of diseases and promotion of the health” BabySEQ Project Funded by the US Health Institute and led by Dr. Robert Green, Veritas counselor, the BabySEQ Project is the world’s first clinical study of systematic sequencing of newborn babies. The project has sequenced and interpreted the genome of 127 healthy newborns and 32 in ICUs of hospitals, in order to assess the opportunity to implement this type of analysis in clinical practice, both in healthy children and in those with some disease. In the total of 159 children whose genome was sequenced, early-onset diseases were detected in 9.4% of the newborns. In its conclusions, the study indicates that knowing this risk is key to the follow-up and personalized treatment of the child even before the onset of symptoms. Its application in neonatal ICUs has already shown its usefulness. A significant number of infants in ICUs have an ailment with a genetic component. Normally, one or several genetic tests are carried out until a diagnosis is reached, which implies an important investment of time and resources. Sequencing the newborn is much more agile and exhaustive, not to mention the savings in hospitalization costs, and the improvement in clinical outcomes. Typology of myNewbornDNA diseases Typology of myNewbornDNA diseasesmyNewebornDNA allows to identify pathogenic variants and associated diseases in different angles. Diseases are categorized into different groups: Highly actionable diseases that appear during childhood.Operable diseases of appearance during childhood with high penetrance.Adult-onset diseases that can be triggered during childhood that must be treated during the first years of life because the risk increases with age.Well defined diseases included in the heel test, as a way of additional confirmation. The Exome The exome is the most important functional part of the genome and the one that contributes most to the final phenotype of an organism. Most of the mutations causing diseases that have been identified so far are located in the exons. While most of the genetic tests focus on a single gene or a set of predetermined genes, the exome sequencing test completes thousands of genes simultaneously (+19,000 genes). “myNewbornDNA – says Dr. Luis Izquierdo – allows to address in a single test a high number of diseases that can affect the health of the newborn and offers a hugely valuable information to prevent the development of the disease or address its treatment much more efficient“. State of the art technology and Big Data Veritas Int. performs whole exome sequencing on Illumina HiSeq X10 and NovaSeq 6000 platforms, with an average coverage of 110x, reaching an average coverage of 300x in the genes of myNewbornDNA. All the reports that the patients receive are reviewed by an expert medical team with more than 10 years of experience in the complete genome sequencing, which includes members of the Personal Genome Project of the Harvard Medical School. The report of results and the genetic advice are based on one of the most complete and updated genomic databases in the world, which allows a much more accurate and effective interpretation. About Veritas Intercontinental Veritas Intercontinental is the international subsidiary of Veritas Genetics, The Genome Company, which operates in Europe, Latin America, Japan and UAE. Its mission is to promote whole genome and offer people information that empowers them to maximize the quality and duration of their lives and their families, changing the way in which the world conceives genetics. Veritas was the first company to offer whole genome sequencing and interpretation to consumers and their physicians and leads the field of genetics, expanding the limits of science and technology and reducing the cost of the genome. Veritas was founded in 2014 by leaders in genomics at the Harvard Medical School and operates worldwide from its offices in the United States, Europe and China. The company has been recognized by MIT Technology Review as one of the 50 Smartest Companies in 2016 and 2017, by Fast Company as one of the most innovative healthcare companies in the world in 2018, and by CNBC as one of the Disruptor 50 companies in 2018. For more information about NewbornDNA our genetic tests or any questions you may have, contact us.