New Technology to Save Lives?

Genome sequencing is rapidly changing modern medicine and a new study shows its potential impact on very ill newborn babies. New research published in the journal Science Translational Medicine helps prove a  two-day whole-genome sequencing for newborns in a neonatal intensive care unit (NICU) to help find out what’s wrong with them(the babies).
“After 50 hours, the test delivers to doctors a wealth of information about what could be causing newborns’ life-threatening illnesses. This would allow them to more efficiently and quickly tailor therapies to the babies, when possible, and identify problematic genetic variants that multiple family members may share.” ““We think this is going to transform the world of neonatology, by allowing neonatologists to practice medicine that’s influenced by genomes,” said Stephen Kingsmore, the study's senior author and director.” “There are more than 3,500 diseases caused by a mutation in a single gene, Kingsmore said, and only about 500 have treatments. About one in 20 babies born in the United States annually gets admitted to a neonatal intensive care unit” he said. This study shows how two software programs, called SAGA and RUNE, work together to help physicians pinpoint the genes that could be causing problems in the babies. The company Illumina developed this rapid genome sequencing device that incorporates the programs.

The test extends beyond the ill baby; genome sequencing can also identify genetic traits in multiple family members, the researchers said.
While some children will still die from incurable genetic disorders after being tested for them, the knowledge about diagnosis and likely outcomes for future children is beneficial for parents, experts say. “Knowing the marker or defect may provide some information regarding the prognosis so the family knows what to expect,” Saunders said. "Importantly, it also allows them to have accurate genetic counseling regarding their risk to have another affected baby, and to make informed decisions about their reproductive future.” The test costs roughly $13,500, but experts believe a $1,000 test is not far away.

This is simply remarkable. I cannot believe that the have the technology to this. How many lives could this save? This is just amazing. This benefits everyone, and I mean everyone. This would especially help any parents who think that they did something wrong in their pregnancy. Even if the doctors wouldn't be able to fix the problem, it would still give parents the time to prepare for the worst.

http://thechart.blogs.cnn.com/2012/10/04/newborns-may-benefit-from-fast-genetic-test/