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    Home > Biochemistry News > Biotechnology News > Next-generation sequencing technology: can improve the efficiency of diagnosis of rare diseases in newborns.

    Next-generation sequencing technology: can improve the efficiency of diagnosis of rare diseases in newborns.

    • Last Update: 2020-08-06
    • Source: Internet
    • Author: User
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    Earlier this year, the UK's 100,000 People Genome Project announced the first confirmed two rare cases of childhood disease.
    researchers have confirmed two cases that have not been diagnosed for years through genome-wide sequencing, which has undoubtedly been a boon for the treatment of rare diseases.
    a new study in the Journal of the Canadian Medical Association, using next-generation sequencing can improve the efficiency of diagnosis of rare diseases in newborns and inform parents of results more quickly. "Next-generation sequencing has the potential to change clinical genetic synopsis practice, especially in newborns with rare or complex diseases," said Dr. David Dyment of Eastern Ontario Children's Hospital,
    co-author of the paper.
    "Typically, children suspected of having a rare genetic disease undergo a set of molecular diagnostic tests, currently tested for specific genes or gene panels, which, given the limited nature of the technology in Canada, are often performed in other countries, meaning that a molecular diagnosis of a rare disease in Canada can take months or even years."
    However, there are currently few reports on the feasibility and diagnostic success rate of next-generation sequencing in neonatal intensive care units.
    in the study, researchers in Canada conducted an experimental study of 20 newborns to test the effectiveness of gene sequencing of 4,813 genes associated with rare diseases.
    all 20 newborns suffer from complex conditions, about half of which have neurological symptoms such as epilepsy or dystonia.
    results showed a diagnostic rate of 40% for next-generation sequencing, in which molecular diagnosis directly affected the medical management of two infants. "This technology can be done in hospitals in Canada, and we no longer need to send samples to countries outside Of canada for testing, which will greatly reduce the time it takes to learn the results," said Dr.
    . "Letting parents know the cause of their child can help reduce some unnecessary guilt, and it can also reveal the likely risk of other family members getting sick and predicting the risk of future pregnancies," Sarah Bowdin, Ph.D., Clinical and Metabolic Genetics at Toronto Children's Hospital, wrote in a commentary.

    " Source: Decoding Medicine.
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