Skip to comments.Rapid test pinpoints newborns' genetic diseases in days
Posted on 10/04/2012 8:09:31 PM PDT by neverdem
Method raises hopes for routine whole-genome sequencing in neonatal intensive care.
A faster DNA sequencing machine and streamlined analysis of the results can diagnose genetic disorders in days rather than weeks, as reported today in Science Translational Medicine1.
Up to a third of the babies admitted to neonatal intensive care units have a genetic disease. Although symptoms may be severe, the genetic cause can be hard to pin down. Thousands of genetic diseases have been described, but relatively few tests are available, and even these may detect only the most common mutations.
Whole-genome sequencing could test for many diseases at once, but its cost, the complexity of the results and the turnaround time are prohibitive. In what they hope will be a prototype for other hospitals, a research team led by Stephen Kingsmore at Childrens Mercy Hospital in Kansas City, Missouri, has implemented a much faster, simpler system for finding relevant mutations in whole-genome sequences that is designed for physicians without specialized genetic training.
These kinds of innovation will help more hospitals bring sequencing into clinical care, says Richard Gibbs, director of the human genome sequencing centre at Baylor College of Medicine in Houston, Texas. A lot of people are going to realize from this that the future is now.
Sequencing for disease Sequencing has been used before to pinpoint the cause of mysterious diseases. In 2011, Gibbs led a team that sequenced 14-year-old twins with a neurological movement disorder and found a way to improve their treatment2. In another instance, whole-genome sequencing suggested that a mysterious case of severe inflammatory bowel disease had a genetic cause and could be relieved through a bone marrow transplant3. But both these examples required several weeks and a team of experts to resolve. The Childrens Mercy Hospital plans to offer routine sequencing in...
(Excerpt) Read more at nature.com ...
My first thoughts as well
I have to disagree.
My daughter has MULTIPLE birth defects. For 20 years, we’ve dealt with each, one by one.
Today, while prepping for her TENTH surgery, they discovered another defect.
And we don’t know why. We don’t know what other hidden defects we haven’t discovered yet.
We’re devastated. We’ve been fighting for two decades. We’re in pain and we just want answers so we can help her.
An easy, cheap, quick genetic test that may be able to direct us to proper care for her would be Heaven-sent.
Yes. Diagnostic tests are a GOOD thing.
I'm sorry for your daughter, but she is Heaven-sent as well.
FReepmail me if you want on or off my health and science ping list.
These kids are born already!
ANYTHING can be misused for evil purpose. A hammer can build a house or smash in someone’s brains.
We desperately NEED more diagnostic tests. There are thousands of ‘orphan diseases’ and tens of millions suffering without even understanding why.
Both of my children are missing part of their immune systems. My son has type one diabetes. Both of my children have foot and ligament deformities.
They’re both intelligent, good people.
But we can’t get on top of the problems because we don’t understand the root.
Saying that this can be misused is no more valid than women who want genetic tests to better understand their risks for breast cancer.
We need to understand so we can treat and cure.
I completely understand your sentiments, having worked in NICU for so many years. Sadly, we have an evil, out of control government that will use this information for their benefit. I was horrified to discover in the early 90s that they were running and cataloging a new test with the standard, required newborn PKU test. It was for HIV. They weren’t reporting to, or following up with the parents. I thought it obscenely unethical. That was when I got a real X-Files slap in the face. Extrapolate from there.