Dummies of infants in a simulation laboratory of the midwifery course at the Osnabrück University of Applied Sciences
Photo: dpa/Friso Gentsch
It is common in many European countries that newborns are tested for various genetically determined diseases. However, complete DNA analyzes have not yet been carried out regularly. Great Britain has now announced that they want to introduce a genomic newborn screening within the next ten years. However, such a practice would raise a number of ethical problems.
In mid -July, the New Lives project at Heidelberg University invited to a final symposium. The joint project funded by the Federal Ministry of Education and Research had designed framework conditions since 2022, under which a genomic newborn screening could be carried out in Germany. This would include examining the entire genome of all babies born in Germany for congenital diseases, with the aim of treating newborns affected as early as possible and preventing serious symptoms. The international conference on the sequencing of newborns (International Conference on Newborn Sequencing-icons) names fourteen projects worldwide that, driven by developments in DNA sequencing technology, want to raise the early diagnosis of illnesses in babies to a new level. Eight of them are already carrying out pilot studies in which thousands of babies are examined. A pilot study with 100,000 newborns also started in 2022 in Great Britain. Although this has not been completed, the government announced its plans for the expansion of the genomical screening in June.
Due to the peculiarity of genetic data and the amount of sensitive information that is about, such projects raise completely new medical -ethical questions compared to the previous studies after birth. In addition, the huge amounts of data that would be collected by an entire population arouse various desires – with potentially considerable consequences for affected individuals and society.
The glass baby
The conversion of regular newborn screening (see box) to an overall genome sequence would not only create a rich medical information. There would also be completely new possibilities of abuse and unwanted consequences. Especially if the DNA data, as is currently being discussed in Germany, are stored in the long term for further use in research or later health care. A national DNA database would indirectly create that can also be accessed from abroad if the data flow as part of the electronic patient file in the planned European health data space (EHDS).
Privatization of gendaten
Genomic data contain a variety of personal information, such as biological relationships, disabilities, health status and other characteristics; They are also highly individual, not anonymous and unchangeable. Because of these characteristics, gend data in the EU and Germany are protected as a particularly sensitive data category. But genomic data that has been created and saved for an analysis can be used relatively easily for other purposes.
Genomic data are highly individual, not anonymous and unchangeable.
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The current scandal about the genomic newborn screening project in Greece shows what desires of newborns arouse. In April unveiled Journalists that the Greek government had agreed to grant two private companies without any access to the DNA information from newborns in Greece. In January 2025, a pilot study was to begin in which the genomic data of 100,000 babies should be collected. A universal DNA screening for all newborns in Greece should be introduced by 2029. According to the agreement between the companies Realgenix and the beginning and the Greek Minister of Health Adonis Georgiadis, the genome data would have become the property of Realgenix. For this purpose, the companies would have borne the cost of sequencing 100,000 genomes of 56 million euros. The agreement does not provide any security precautions for the protection of highly sensitive data, no requirements for parental consent or right of withdrawal. In their report, the journalists also point out that half of the projects listed by icons were not examined and approved by Ethics Committees.
From biochemistry to genomics
In contrast to other health investigations by midwives or doctors, newborn screening is about identifying sick babies and treating them before symptoms occur and leave consequential damage. The first screening test started in 1969 in Germany on Phenylketonuria (PKU). Here a rare variant of the PAH Gens causes problems with the metabolism of the amino acid phenylalanine. Untreated, those affected can develop a number of symptoms from learning difficulties to seizures. PKU is an ideal goal for a newborn screening, since at early diagnosis the otherwise irreversible consequences can be avoided by a strict diet. The child concerned can thus achieve average health and life expectancy.
The screening usually happens through the biochemical analysis of heel blood, which is obtained in the first days after the birth by a small pinprick, dripped on a paper carrier, dried and sent to a laboratory. In the event of striking findings, further examinations are carried out to confirm the initial suspicion and intervene therapeutically. In Germany, babies are currently being tested for 16 diseases after the parents’ consent. Although all diseases have genetic causes, so far only a few examinations have been carried out by genetic test. Tests based on DNA analyzes instead of the analysis of metabolic products have the advantage that they can take place earlier and not only after one to three days when diseases can be determined at a biochemical level. In this way, however, newborns could also be identified as “sick” who never get sick – which is currently prevented by the strict inclusion criteria for diseases in the screening. However, due to the technological upgrade to total genome sequencing, a limitless expansion of the screening is theoretically possible. The number of well -known monogenetic diseases and properties is constantly growing – currently the effects of more than 4,600 genes are known. Not all of these relationships are life -threatening or worthy of treatment. Studies repeatedly show that many healthy subjects have supposedly pathological gene variants.Isabelle Bartram
At New Lives, the ethical evaluation is an integral pillar of the project. The considerations mainly revolve around the individual – according to which criteria is the selection of the target diseases? How can parents be sufficiently informed, how can they be advised on negative findings? A one emerged from the project Recommendation paper describes criteria for the selection of target diseases and the quality of the informed consent of the custody.
Wasolation of responsibility
With a separate informed consent, according to the recommendations of New Lives, secondary use of the data should also be possible. The legislator had “to ensure protection of discrimination” to employers or insurance companies. However, protection by the Gendiagnostik Act before government access to gendaten no longer applies if they are leaving the medical context and used for research. And if the data flow into the electronic patient files of the newborns, they can also be researched by pharmaceutical companies – supposedly anonymously, but genetic data are never really anonymous. It remains unclear whether a clarification of the custodians can cover all possible consequences of this data use. And if the informed consent is brought to the fore as a condition, this also means passing the responsibility to the individual. In this case, not even on the person concerned himself – the newborn cannot consent.
Possibilities of abuse
In times of a political background – worldwide and in Germany – not only individual consequences, but also far -reaching social consequences Be part of a consideration. In the United States, the police use both commercial gendaten banks that were created for other purposes, as well as medical heel blood bisions created as part of the newborn screening for their investigation. In authoritarian regimes like in China, population -wide gendataten banks are used to monitor ethnic minorities. From German Nazi history there are more than enough examples of misuse of data records for the more efficient persecution of minorities. For potentially affected and those interested in data protection, it is high time to interfere with the complex medical -ethical debate.
Dr. Isabelle Bartram is a molecular biologist and employee at Gen-Ethical Network e. V.
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