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Gene Sequencing Helps Twins With Rare Disorder
Date:6/15/2011

ovement in his fine-motor skills and focus at school, something he'd been struggling with.

Experts say the findings are among the first time that whole-genome sequencing has revealed information that physicians could immediately use to improve treatment -- something that may herald a new era of medicine.

"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 figu
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