Genetic test detects hereditary diseases in babies

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New genetic test determines hereditary diseases in babies in 50 hours

Hereditary diseases can apparently be detected in babies with a new genetic test in just two days. As the US research team led by Carol Jean Saunders from Children's’s Mercy Hospital in Kansas City reports in the journal “Science Translational Medicine”, the new procedure can be used to examine the baby’s complete DNA using a drop of blood.

Genetic diseases are often difficult to identify in newborns. Since the progression of these diseases is also “extremely fast”, a diagnosis as prompt as possible is required, according to the US scientists at the children's hospital in Kansas City. However, for many of the more than 3,500 monogenetic diseases known to date, there is no reliable, fast diagnostic procedure. Due to the "immense unmet need for improved molecular diagnostics in toddlers", US scientists have now developed a genetic test that enables a differential diagnosis of genetic diseases in "50 hours".

Genetic test provides results on hereditary diseases after 50 hours The novel genetic test for determining hereditary diseases in babies, like previous methods, is based on a sequencing of the genes using a blood sample. What is special, according to the US scientists, is the speed with which the new method delivers results. While previous methods require several weeks to test a single gene, the new genetic test delivers results after 50 hours, reports Saunders and colleagues in the journal Science Translational Medicine. In the process developed, the baby's complete DNA is sequenced from a drop of blood and examined for changes using new software. In three out of four cases, the new genetic test in critically ill babies delivered a correct diagnosis within two days, write the US scientists.

Rapid diagnosis improves treatment in babies with inherited diseases The research team led by Carol Jean Saunders comes to the conclusion that the new genetic test is well suited for use in newborn intensive care units to clarify possible genetic causes of existing non-specific symptoms. In any case, special haste is required to initiate the appropriate treatment as early as possible based on a reliable diagnosis. Using the new method, around 500 hereditary diseases could be detected much earlier than before, according to the US scientists. The director of the Institute of Human Genetics at the University Hospital Aachen, Klaus Zerres, rated the development of the new genetic test for the news agency "dpa" as "the result of new technical possibilities" and added that it "would be extremely helpful in the cases mentioned". Because a quick diagnosis always offers advantages. However, it should be borne in mind that even with the new test, not all hereditary diseases can be determined exactly.

Further acceleration of the diagnostic procedure planned Another disadvantage of the genetic test for the analysis of hereditary diseases in babies is the relatively high cost. At around $ 7,600, the procedure is relatively expensive and is certainly not a standard test for all newborns. Initially, the US researchers now want to test their method on at least 100 other children, with a possible reduction in the diagnosis period to 36 hours, Saunders and colleagues write. Because early diagnosis is particularly important in the interest of small patients. Around three percent of children in the United States suffer from genetically caused diseases, 20 percent of child deaths in the United States are due to these diseases, according to the researchers. To date, many of the babies affected die before a diagnosis is even available, Saunders and colleagues report. The new genetic test could bring about a significant improvement here. However, it also offers financial advantages, since the early diagnosis means that there is no need for further examinations and the hospital stay may be significantly shortened due to the immediate start of treatment, the US scientists report. (fp)

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