Genome analysis of babies reveals possible diseases 

Do you remember the 1997 dystopian thriller Gattaca with then-rising Hollywood stars Uma Thurman, Jude Law and Ethan Hawke? This film became a blockbuster not only because of the actors, but also due to the plot about DNA identification and analysis of potential diseases in a newborn. In the film, after the birth of a child, one drop of blood within a few minutes was used to determine the child’s possible future diseases – a projected medical chart, including life expectancy. 

A quarter of a century has passed, and now we can safely say that the plot of the film was prophetic. Preventive medicine has turned science fiction into reality. 

Genome sequencing is a powerful instrument in preventive medicine, which makes it possible to find disease-causing genetic variants and, if necessary, start treatment even before any symptoms of a disorder become apparent. 

BabySeq Project is a research initiative based in Massachusetts and provided by Brigham and Women’s Hospital, Boston Children’s Hospital, and Harvard Medical School. The project conducts research in this field, creating the first comprehensive sequencing program for newborns, which allows scientists to identify hundreds of genetic disorders and predispositions to certain diseases. 

Recently, BabySeq published the results of yet another stage of their research, during which scientists screened 325 infants and their families. The results were surprising even for the scientists themselves: the technique proved to be a highly efficient instrument that can detect not only disease-causing mutations but also hidden conditions in newborn organisms. 

Why is it important?

The BabySeq Project research team is working on a novel newborn screening program, which theoretically may become a new medical standard in the US. The existing newborn laboratory screening can identify risk factors of up to 60 treatable conditions; however, thousands of genetic mutations that may lead to disease development in the future remain under the radar. 

Scientists know that early detection and treatment of severe genetic disorders may help avoid serious long-term consequences, given that modern medicine has a wide range of powerful precision tools, not least gene and cell therapies. 

Moreover, newborn genome sequencing has a considerable economic impact, because this procedure is more cost-effective than late-stage disease treatment. 

What’s already accomplished?

The first completed stage of the research project showed promising results: among all enrolled babies, 11%, as it turned out, had an unanticipated disease risk, and about 5% had atypical pharmacogenomic variants, which means that these individuals need special treatment in childhood. 

Also, this type of screening can detect hidden disorders and anatomical abnormalities already present in organisms. For instance, in one healthy baby genome, scientists found a dangerous genetic mutation that, in the future, may lead to supravalvular aortic stenosis, a condition that may cause a heart attack. Further testing revealed a previously undetected aorta narrowing in the baby’s organism. 

“The results of this study indicate that conducting thorough genetic sequencing of newborns has the potential to significantly improve health outcomes for infants and their families,” – concluded Alan Beggs, co-leader of BabySeq Project and Director of The Manton Center for Orphan Disease Research at Boston Children’s Hospital.

What’s next?

As the researchers noted in their report, the results of a survey conducted among the babies’ parents showed that genome screening does not increase the risks of anxiety, depression, or family disruption in adults. Currently, the scientists are preparing for the next stage – the BabySeq2 Project, where they plan to enroll about 500 new infants from Boston, New York City, and Birmingham, Alabama, prioritizing the inclusion of a diverse, nationally representative cohort of families. 

An authentic article of our partner, Henome.com, a media project about human genome.