Genome Test Could Reduce Death in Critically Ill Babies

In the United States, up to one in three babies that enter the NICU have a genetic disease. As of right now it could take weeks to test for just one gene, but there is a new prototype where whole genome testing would only take 50 hours from a blood sample. There are around 3,500 known genetic diseases caused by mutations in DNA, and in critically ill babies these can progress rapidly. Out of these 3,500 genetic diseases, around 70 need the treatment as early as possible in order to prevent disabilities and life-threatening diseases.



 

 

 

 

 

 

 

This whole genome sequencing, STAT-Seq, allows doctors to make practical decisions without misdiagnosis, or waiting countless days that the critically ill babies may not have. The software allows symptoms and conditions to be entered which is one of the reasons why results can be given so quickly. Because this test cuts down so much time and many other tests, it has the potential to lowering costs of genetic testing in the NICU. If this testing is accurate, it could make such a difference in the NICU. Being able to find out if your child has a genetic disease in 50 hours, rather than waiting weeks, would save families so much stress and fear. This will also keep the babies from going through further pain, and hopefully bring up the survival rate of premature babies. I am very excited to see the possibilities and results that this testing can bring.