"Up until this point, a lot of gene sequencing is basic science. We can determine which gene is involved, but the next step, developing the drug, isn't there yet," Bainbridge said. "This is what makes this study fairly unique in that it was medically actionable."
Other experts agree there is more to come. It was only in 2003 that the first whole-genome sequencing was completed -- the Human Genome Project, which was enormously expensive, according to Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospital in Kansas City.
Subsequent sequencings cost between $1 million and $2 million. Today, the cost is about $10,000, said Kingsmore, who wrote an accompanying editorial.
Even newer, more targeted and less expensive technologies have the potential to bring down the cost to $5,000 or even lower, Kingsmore said, although as of now, those are not available outside of research institutions.
But if such lower-cost sequencing became available, it could lead to more accurate, faster diagnosis of the nearly 3,000 Mendelian diseases, or diseases caused by a mutation on a single gene, such as sickle cell anemia or cystic fibrosis, for which research has identified a known genetic cause.
Today, families often spend many stressful months and years visiting doctors and undergoing tests to figure out what's going on with their child.
Kingsmore said that for some of these diseases, whole-gene sequencing might help solve the "bottleneck" in terms of the inability to make a diagnosis -- or a diagnosis that takes so long that the child is very late in the disease before physicians figure out what is wrong. "If we can make an early diagnosis, that will breathe fresh life into looking for new treatments," Kingsmore said.
Today, Retta Beery is like many other moms. She spends afternoons shuttling her now 13-year-old twins to soccer, volleyball and track practice. But she may have a different take on that role.
"Every time they do anything, we continue to be in awe," she said. We don't take it for granted. We know how incredible it is they are able to function and to do the things that they are doing. We want them to know this is their testimony, and what has really shaped our whole family in so many ways."
We Move has more on dopa-responsive dystonia.
Copyright © 2011 HealthDay. All rights reserved.