Researchers have miraculously managed to sequence and analyze the entire genome of a baby in only 50 hours.
After analyzing the data of seven babies that unfortunately died near birth, doctors were able to retrospectively diagnose five of them, demonstrating how quick the turnaround is for potentially saving a lot of young lives with this new information.
More than 3,500 diseases are known to be caused by single gene mutation, many of which manifest during the first month of life. Since only one gene is affected, a simple genetic screening can detect them. However, screening newborns can take 4 to 6 weeks, meaning the results may not arrive until it’s too late for treatment.
It took about 4.5 hours to prepare the samples, 25.5 hours to sequence the genomes, and the remaining 20 to analyze the 3.2 billion base pairs of the genomes, as well as pinpoint mutations.
Various modifications were made to the software to speed up the process, such as having the machines detect mutations and match them to diseases rather than the usual way of doing it manually. The fact that five out of seven babies were diagnosed through this process means that the quality and accuracy of this method could prove to be huge in clinical settings.
“Up to one third of babies admitted to a [neonatal intensive care unit] in the U.S. have genetic diseases,” said Stephen Kingsmore, study leader and director of the Center for Pediatric Genomic Medicine. “By obtaining an interpreted genome in about two days, physicians can make practical use of diagnostic results to tailor treatments to individual infants and children.”
Other benefits to accessing infant genomes include limiting the number of tests run by doctors, saving on time and cost, and shortening hospital stays.
There is still very limited information out there for genetic bases for diseases, but as sequencing continues to get faster, cheaper, and more accurate, it won’t be long before researchers have the ability to understand the entire human genome and we are well into the era of genetics-based medicine. The fact that this study is measuring results in terms of potential lives saved shows that we are close to making this a reality.
Image CC licensed by Micah Baldwin