Genome Scan For Genetic Disease In Infants
October 4, 2012

New Screening System Diagnoses Genetic Diseases In Two Days

Connie K. Ho for — Your Universe Online

Technology is changing faster than ever. With the click of a button you can send messages to friends, share photos and watch videos. This rapid speed is also being seen in medical technology. A new study found that doctors can quickly diagnose genetic diseases in babies with a simple blood test, allowing doctors to decode the baby´s complete genome in two days as opposed to the current time frame of at least six weeks.

According to ABC News, researchers were able to decode the genomes of babies who had been placed in neonatal intensive care units. Of the six babies, two were already identified as having genetic diseases. Scientists believe that the new genetic test will be useful for doctors in diagnosing babies and determining treatment early on.

"We think that we have come up with a solution for the tragic families who have a baby who's born and the doctors are not sure of what the cause of the baby's illness is," the study's senior author Dr. Stephen F. Kingsmore, who serves as the director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospitals and Clinics in Kansas City, told ABC News.

The team of investigators noted in the academic paper that any of the 3,500 genetic diseases currently studied could affect children. They utilized a new computer software program to help quicken the decoding process. According to The Telegraph, the technology is able to screen the entire genome from a drop of blood. The doctors then inputted a set of abnormities that could affect the infant and the computer would can the blood drop for any genetic mutations.

"Up to one third of babies admitted to a neonatal intensive care unit in the United States have genetic diseases," remarked Kingsmore in the story by ABC News.

The test was found to be accurate in four cases of five children and could prove to be helpful for families who have ill newborns.

"The family doesn't know what's going on," continued Kingsmore in the ABC News article. "The doctors are working heroically to figure out what's wrong. That can go on for weeks."

Physicians can also utilize the test to communicate with families on the status of the sick infant within a 50-hour period.

"Families know what's going on. It's not a mystery," stated Kingsmore in the ABC News article. "When there isn't a treatment, we know the prognosis“¦ Parents are empowered to make decisions.”

Others involved in genetic research believe that the new test is a step forward.

"Prior to this study, whole genome sequencing did not offer the turnaround time required for many of the rapidly advancing conditions addressed in the neonatal intensive care unit," commented Joel T. Dudley, an assistant professor of genetics and genomic sciences at the Mount Sinai School of Medicine in New York City, in the ABC News report.

The testing comes at a hefty cost, approximately $13,500 to decode a whole human genome, but is thought to be worth the price.

"It´s now feasible to decode an entire genome and provide interim results back to the physician in two days,” Stephen Kingsmore, director of Children's Mercy Hospitals in Kansas City, told The Telegraph. "We think this is going to transform the world of neonatology, by allowing neonatologists to practice medicine that´s influenced by genomes. Up until now, they´ve really had to practice medicine blindfolded."

The findings of the study were recently published in the journal Science Translational Medicine.