Genetic tests are designed to help sick newborns

Genetic tests are designed to help sick babies

03/12/2014

Every year thousands of terminally ill children are born in the USA. The National Health Institute is now supporting projects to assess the opportunities and risks of neonatal gene sequencing. 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 she was always hungry. The pediatrician diagnosed a dangerously low blood sugar level, which in the long run could lead to brain damage. When all therapies failed, the doctor advised the parents to have the girl genetically examined. They did and two days later, the test result of the entire genome was available. According to this, the girl had inherited a mutation from his father that interfered with insulin production. However, not all cells carried this change. The result was that half of her pancreas was removed and half a year after the procedure, the girl was healthy.

Some children might have been able to help genetic testing
Thousands of terminally ill children are born each year in the USA. Many die before doctors can tell what they are suffering from. Some might have been able to help a genetic test. Loud „The world“ Now, the National Health Institute of the United States has provided four projects at two universities and two hospitals, including the Children's Hospital, which Kira treated, with five million dollars (about 3.6 million euros) to understand the opportunities and risks of neonatal gene sequencing estimate. In a Boston hospital, for example, 400 babies are to be genetically examined, who are apparently born completely healthy. Researchers at the age of five want to see if knowledge of genetic predisposition has influenced the development and treatment of children compared to children undergoing routine screening.

Universities want to deal with ethical and legal issues
First and foremost, universities want to deal with ethical and legal issues. For example, what should parents' comprehensive genetic counseling look like, who should have access to highly sensitive data, or what parents can do with the knowledge that their children have gene mutations? Do you know about defects that can not be treated by everyone or that nobody knows today about which diseases they might cause? A problem here is that often a knowledge arises, which psychologically loaded, but does not open a meaningful action.

Human geneticists warn against too much hope
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 a real step: „As a child is born with malformations, some of which are surgically corrected. But then it comes to extreme failure to thrive, you do everything possible to keep the child alive, but eventually fails the liver.“ In such a case, a genetic analysis might have helped to find a quicker answer. Although the human geneticist sees good reasons for genetic testing, he warns against too much hope: „The percentage of treatable genetic defects is still low.“

Use of genetic testing in recent years significantly expanded
In recent years, the use of genetic testing has been significantly expanded. The German Ethics Council explained in a press release last year: „With lower costs and faster analysis, as well as diagnostic services that reach out to customers directly via the Internet, more and more people have access to genetic diagnostics.“ The German Council of Economic Experts has issued a total of 23 recommendations on gene diagnostics, including „Improvements in informing the population, as well as training, education and training of health professionals on available genetic tests, their relevance and validity“ calls. In addition, amendments to the Genetic Diagnostics Act are required, „to ensure high standards of education and advice in the face of new developments.“ (Sb)

Image: Gabi Schoenemann