For parents of a child born with a genetic disorder or an intellectual disability, the search for a cause and useful therapies can be both emotionally and financially draining. But 2 research studies published in October suggest that emerging genome sequencing and gene mutation analysis techniques may speed identification of a genetic cause and provide useful information to guide treatment decisions.
Until recently, sequencing technologies were too slow and too expensive—and the results too complex—to be useful in many clinical settings, said Stephen F. Kingsmore, MB, ChB, BAO, DSc, director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospital in Kansas City, Missouri. Now, however, advances in sequencing and new techniques to zero in on candidate genetic variants are making it feasible to use sequencing in the clinic. Kingsmore and colleagues recently described a technique that they say can help identify the genetic cause of disease in neonates with monogenic diseases in as little as 50 hours. Another group, from the Netherlands, has described how sequencing only the exome, the gene-encoding portions of the genome, has enabled them to identify the genetic cause of intellectual disabilities in some patients.
Kuehn BM. Sequencing Inches Closer to the Clinic: Neonatal, Intellectual Disorders Identified. JAMA. 2012;308(19):1961-1962. doi:10.1001/jama.2012.14629