Genetic testing is said to help sick newborns

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Genetic testing is said to help sick babies

Thousands of terminally ill children are born in the United States each year. The National Health Institute is now supporting projects to assess the opportunities and risks of gene sequencing in newborns. Genetic testing could help some sick children.

Dangerously low blood sugar levels According to various press reports, Kira Walker was just three weeks old when her mother discovered that something was wrong with her baby because it was always hungry. The pediatrician diagnosed a dangerously low blood sugar level that could lead to brain damage in the long run. When all therapies failed, the doctor advised the parents to have the girl genetically examined. They did so and two days later the test result of the entire genome was available. The girl had inherited a mutation from her father that affected insulin production. However, not all cells bore this change. As a result, half of her pancreas was removed and half a year after the procedure, the girl was healthy.

Genetic testing could have helped some children In the United States, thousands of terminally ill children are born every year. Many die before doctors can determine what they are suffering from. A genetic test could have helped some people. According to “Die Welt”, the US National Health Institute has now funded four projects at two universities and two hospitals, including the children's clinic that Kira treated, with five million US dollars (around 3.6 million euros) to take the chances and Assess risks of gene sequencing in newborns. In a Boston hospital, about 400 babies are to be genetically examined, who appear to be born completely healthy. The researchers then want to see at the age of five whether knowledge of the genetic disposition has influenced the development and treatment of children compared to children who have only undergone routine examinations.

Universities want to deal with ethical and legal questions Primarily, universities want to deal with ethical and legal questions. For example, what comprehensive genetic counseling for parents should look like, who can have access to highly sensitive data, or what do parents do with the knowledge that their children carry gene mutations? Knowledge of defects, not all of which can be treated or of which no one knows today what diseases they may result in? A problem with this is that knowledge often arises that is psychologically stressful but does not open up meaningful action.

Human geneticists warn of too high hopes According to press reports, the director at the Max Planck Institute for Molecular Genetics in Berlin, Hans-Hilger Ropers, nevertheless believes that genome sequencing, especially of newborns, is the right step: "A child with malformations is born there, which are partially corrected surgically. But then there is extreme failure to thrive, you do everything possible to keep the child alive, but ultimately the liver fails. ”In such a case, a genetic analysis might have helped to find an answer more quickly. Even if the human geneticist sees good reasons for genetic tests, he warns against too high hopes: "The percentage of treatable genetic defects is still low to this day."

Use of genetic tests significantly expanded in recent years The use of genetic tests has increased significantly in recent years. The German Ethics Council said in a press release last year: "Due to falling costs and faster analyzes, as well as diagnostic offers that are directed to customers via the Internet, more and more people have access to genetic diagnostics." The Expert Council has a total of 23 He made recommendations on genetic diagnostics, in which he called for, among other things, "Improvements in the information provided to the population as well as the education, training and further education of those working in the health care sector about available genetic tests, their significance and significance". In addition, changes to the Genetic Diagnostics Act are necessary "in order to guarantee high standards in information and counseling given the new developments." (Sb)

Image: Gabi Schoenemann /

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