Core Tips for Electronic Enthusiasts : The research team led by Stephen Kingsmore of the Children's Hospital of Missouri in the United States has developed a faster, simpler way to find related genetic mutations in the entire gene sequence. This device, which enables rapid DNA detection and the latest analytical methods for the results, can diagnose neonatal genetic defects in a relatively short period of time and is published in a new study in Science-Transformation Medicine.
New method for rapid diagnosis of neonatal genetic diseases within 50 hours
A device that can quickly detect DNA and the latest analytical methods for the results can diagnose genetic defects in newborns in a relatively short period of time, a new study published in Science-Transformation Medicine.
Currently, as many as one-third of newborns are required to enter the neonatal intensive care unit due to hereditary diseases. Although the symptoms may be very serious, the genetic cause of the symptoms is difficult to determine. Numerous genetic diseases have been discovered, but effective complementary detection methods are very limited, and even these detection methods can only diagnose the most common genetic mutations.
Whole-genome sequencing can quickly detect many diseases, but it is very expensive, the results are very complicated, and it takes too long. A team led by Stephen Kingsmore of the Children's Hospital of Missouri, USA, used a faster, simpler method to find related genetic mutations in a full-gene sequence. The method is designed for general physicians who have not received specialized genetic training to facilitate their clinical use.
The researchers say that the new genome-wide sequencing technology will diagnose the genetic disease of newborns in intensive care units in just a few days. The main revolutionary feature of the technology is speed – genetic testing results are available in a 50-hour turnaround time, and the current method takes several weeks to obtain these results.
This genetic test can shorten the time to diagnosis, quickly initiate any appropriate treatment, and reduce the time that anxious parents get genetic counseling. Kingsmore said that although the diagnostic report in the study did not affect the treatment plan, it would be a great comfort to conduct a simple test, and the physician could stop those expensive, aggressive tests and the family could plan for a future pregnancy. Get genetic counseling.
New method for rapid diagnosis of neonatal genetic diseases
It is reported that this technology called SSAGA allows any doctor to open a complex genome test with a few clicks. After taking a drop of blood and extracting the baby's DNA, doctors can press buttons that represent the characteristics of a disease they see in a patient. The computer then plots those into a complete collection of approximately 7,500 genetic and hereditary diseases. The system then looks for changes in the DNA code that can explain the baby's disease.
Scientists participating in the study said that the entire process can be completed in about two days, so it is ideal for use in neonatal intensive care units.
Using this new technology, the researchers were able to make a definitive diagnosis of three out of the four babies they tested. This rapid diagnosis can have a huge impact on your baby's health. About 500 hereditary diseases can be treated. For example, phenylketonuria is a genetic disease that affects newborns and causes mental retardation and seizures. However, proper early diagnosis and follow-up treatment can result in normal mental development and longevity.
The research team next plans to expand the test to 100 or more babies to accurately understand the exact benefits, costs, and issues (if any) of the test method. The researchers also believe they can cut the total inspection time from 50 hours to 36 hours by the end of the year.
These innovations will help more hospitals perform gene sequencing in clinical care, said Richard Gibbs, director of the Human Genome Sequencing Center at Baylor College of Medicine, "From here, many people are beginning to realize that the future is the present."
Time is of the utmost importance to help children with severe illnesses, says Wisconsin Medical School geneticist Elizabeth Worthey. She also hopes that large medical institutions can develop information sharing policies and technologies to treat sick children.
However, rapid detection does not diagnose all genetic diseases, Kingsmore said, and current sequencing technologies often ignore gene mutations such as repetitive genes. Still, he predicts that future sequencing methods will provide timely and effective diagnosis in many cases, otherwise these are still painful secrets.
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