BabySeq: One in Ten Newborns Carry Genetic Risks – Health

When analyzing the complete genome of newborns, American doctors discovered gene variants in around ten percent of the babies examined that can lead to diseases. This offers the possibility of early treatment or monitoring, writes the group led by Robert Green from Harvard Medical School in Boston in the specialist magazine The American Journal of Human Genetics. In addition, the result of the gene sequencing could also provide conclusions about potential health problems in the parents.

The “BabySeq” project, in which the genome of sick and healthy newborns is decoded and examined for specific gene variants at Boston clinics, has been running for ten years. The scientists involved have already published a number of specialist articles on the subject. In the current study, Green and colleagues examined what followed the analysis results. “By screening apparently healthy newborns, entire families were alerted for the first time to the presence of dangerous but treatable genetic variants,” said Green.

Of the 159 infants whose genomes were first sequenced as part of the project, 127 appeared healthy and the remainder were being treated in intensive care. With the consent of the parents, they were examined for 954 genes in which variants or mutations often lead to a disease in childhood or adolescence. In addition, the researchers recorded some genetic changes that mean an increased risk of developing the disease in adulthood. As a result, the researchers found gene variants in 17 newborns (10.7 percent) that increase the risk of disease or indicate existing anomalies.

In several cases, the researchers also found risks in the parents

Such abnormalities include aortic stenosis – a narrowing of the left ventricle outflow tract and a potentially dangerous heart disease. After genetic analysis, such a narrowing, but not very pronounced, was discovered in an infant. As a result, the child and the father, in whom the gene was then also detected, were monitored by cardiac medicine.

Overall, the screening of eight newborns led to the discovery of genetic risks in their family members. In three cases, mothers responded to the analysis result by undergoing surgical procedures designed to reduce the risk of the disease. Two cases involved a gene variant that increases the risk of breast and ovarian cancer, and one case involved a hereditary form of colon cancer. However, it is not possible to deduce from the results whether the women would actually have fallen ill at some point.

The doctors also discovered potentially dangerous gene variants in the sick children that had nothing to do with their intensive care treatment. “The results of this study show that performing thorough genetic sequencing of newborns has the potential to significantly improve health outcomes for infants and their families,” said Alan Beggs of Boston Children’s Hospital, a study co-author.

In Germany, such analyzes have so far only been available for relevant diseases

“From an ethical point of view, genome screenings that lead to the early detection of hereditary diseases or disease risks are fundamentally to be welcomed,” said the theologian and ethicist Peter Dabrock from the Friedrich-Alexander University in Erlangen-Nuremberg about the results. However, he also sees risks: such screenings could be driven by the interests of the pharmaceutical industry and cause high costs in the healthcare system. He also sees the risk of data misuse if employers or insurance companies learn about health risks. It is also very important for him that professional, intensive discussions are held with those affected about their genetic risks.

The result of the study comes as no surprise to human geneticist Christian Schaaf from Heidelberg University Hospital: “We all have to get used to the fact that there is no such thing as a ‘perfect genetic code’ and that each of us carries numerous genetic variants that carry disease risks.” It should be borne in mind that not every risk variant necessarily leads to the onset of a disease. In Germany, a genome examination is currently only carried out on newborns in the case of clinically relevant diseases. Schaaf points to an ongoing Heidelberg study exploring the ethical, legal and psychological implications of general genomic newborn screening.

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