Genetic test detects hereditary diseases in babies

New genetic test determines hereditary diseases in babies in 50 hours

04.10.2012

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

Genetic disorders are often difficult to detect in newborns. As the progression of these diseases also often „is extremely fast“, According to the US scientists at the Children's Hospital in Kansas City, a timely diagnosis is needed. But for many of the more than 3,500 previously known monogenic diseases, there is no reliable, rapid diagnostic procedure. Due to the „immense unmet need for improved molecular diagnostics in infants“ US scientists have now developed a genetic test in „50 hours a differential diagnosis of genetic diseases“ allows.

Gentest gives results on hereditary diseases after 50 hours
The novel genetic test for the determination of hereditary diseases in babies, as well as earlier methods, based on a sequencing of genes using a blood sample. What's special, according to the US scientists, is the speed at which the new method delivers results. While previous methods already take several weeks to test a single gene, the new gene test delivers results after 50 hours, Saunders and colleagues report in the journal „Science Translational Medicine“. In the developed procedure, the complete DNA of the baby is sequenced from a drop of blood and examined for changes with the aid of new software. In three out of four cases, the new genetic test for critically ill babies has delivered a correct diagnosis within two days, the US scientists write.

Fast diagnosis improves the treatment of babies with hereditary diseases
The research team led by Carol Jean Saunders concludes that the new gene test for use in neonatal intensive care units is well-suited to clarify possible genetic causes of existing nonspecific symptoms. In any case, there is a particular need to be in a hurry to initiate appropriate treatment as early as possible on the basis of a reliable diagnosis. About 500 hereditary diseases could be detected much earlier with the help of the new method than before, so the statement of the US scientists. The director of the Institute of Human Genetics of the University of Aachen, Klaus Zerres, assesses the development of the new genetic test against the news agency „dpa“ when „Result of new technical possibilities“ and added that this „certainly extremely helpful in these cases“ be. Because a quick diagnosis always offers advantages. But it should be remembered that even with the new test, not all hereditary diseases can be accurately determined.

Further acceleration of the diagnostic procedure planned
Another disadvantage of genetic testing for the analysis of hereditary diseases in babies are the relatively high costs. The procedure is relatively expensive at around $ 7,600 and is certainly not the standard test for all newborns. First, the US researchers now want to test their procedure in at least 100 other children, and if possible, a shortening of the diagnostic period should be achieved to 36 hours, write Saunders and colleagues. According to the researchers, about three percent of children in the United States suffer from genetic diseases, and 20 percent of child deaths in the United States are caused by these diseases. To date, many of the affected babies die before any diagnosis is made, Saunders and colleagues report. The new genetic test could bring about a significant improvement here. However, he also offers financial benefits, since the early diagnosis eliminates further investigations and the hospital stay may shorten significantly due to the immediate start of treatment, the US scientists report. (Fp)

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Image: Martin Gapa