Test for hundreds of diseases
Experts warn against private providers of baby screenings
Updated on December 19, 2024Reading time: 2 min.
Screening, in which babies are tested for serious illnesses, is set to become more efficient from mid-January. According to experts, tests carried out by private providers pose serious risks.
“According to studies, newborn screening is the most successful measure for identifying predisposition to diseases and thereby positively influencing the course of the disease,” says Christian Schaaf, Director of the Institute for Human Genetics at Heidelberg University Hospital.
However, doctors warn against commercial providers of newborn tests to detect serious illnesses. The companies advertise comprehensive testing options, but “do not offer parents a link to specialized pediatric facilities if their child becomes ill,” as the German Society for Child and Adolescent Medicine (DGKJ) criticizes.
In Germany, nationwide, free, expanded newborn screening could currently detect 19 rare but serious diseases just a few hours after birth – including cystic fibrosis and spinal muscular atrophy (muscle loss due to the death of certain nerve cells). A blood sample from the newborn’s heel is sufficient. The program also ensures direct connection to vital therapy programs, according to a DGKJ statement.
From January 13, 2025, the procedure will be improved and the time between sample collection and parental information will be limited to a maximum of 72 hours. “The aim is to make therapeutic care even faster and more efficient,” said the DGKJ.
According to them, however, private providers are pushing into this area. “The paid tests have no connection to the highly specialized treatment networks,” says a DGKJ statement. “As a result, valuable hours and days can be lost. There is also a lack of transparency regarding the test quality and results of these privately offered procedures.”
However, the question of time is crucial for newborn screening. “For some illnesses, the survival of the child is a matter of just a few hours,” said Georg F. Hoffmann from the DGKJ screening commission. “Any delay in treatment increases the risk of serious harm.”
Since the late 1960s, clinics in Germany have been offering newborn screening shortly after birth. Scientists in Heidelberg and Mannheim are currently working on a comprehensive concept for genomic newborn screening that can test for hundreds of genetic diseases. At Heidelberg University Hospital, researchers want to offer genomic newborn screening as part of a study from 2026.