News / Health

Rapid Genome Sequencing Potentially Saves Newborns' Lives

In genetic diseases for which treatments exist, rapid diagnosis is critical for neonatal interventionsIn genetic diseases for which treatments exist, rapid diagnosis is critical for neonatal interventions
x
In genetic diseases for which treatments exist, rapid diagnosis is critical for neonatal interventions
In genetic diseases for which treatments exist, rapid diagnosis is critical for neonatal interventions
TEXT SIZE - +
Jessica Berman
Researchers have developed a powerful DNA-reading computer program that can diagnose potentially fatal genetic disorders in newborns in only two days, instead of the several weeks now required.  The technology means that infants born with these disorders can receive immediate, life-saving treatment.

Doctors know of at least 3,500 diseases caused by a single defective gene.  Most of the newborns who wind up in neonatal intensive care units are critically ill with one of these genetic disorders.
 
Treatments are available for about 500 of the diseases.  But physicians often work against the clock.  Some of these genetic disorders are not easy to diagnose on the basis of symptoms alone.  Whole-genome sequencing -- scanning the newborn's DNA for suspect genes -- usually takes between four and six weeks, and many babies die before the test results are returned.

But Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital in Kansas City, Missouri, says new sequencing software developed by researchers casts a wide net over the entire human genome.  That genome consists of 3 billion base pairs of DNA molecules.  Only about 20,000 to 25,000 genes in every DNA strand code for particular physical traits and diseases.

The new software, Kingsmore says, makes a powerful DNA screening technology available for the first time to neonatal doctors.

“That goes from taking a drop of blood from the baby, receiving an order from a physician, all the way back to reporting the results back to that physician.  We report [on] seven acutely ill babies in whom we performed this," he said. "And in six, we were able to provide a rapid molecular diagnosis.”

The software focuses on parts of the genome that are relevant to a particular symptom or symptoms, helping doctors to search for the possible cause of a baby's congenital disorder.

"We think this is going to transform the world of neonatology by allowing neonatologies practice medicine that [is] influenced by genomes.  Until now, they have really had to practice medicine blindfolded," Kingsmore explained.

The so-called HIGH-Seq system, developed by the British company, Illumina, is not yet available outside Britain.  For the study, researchers at Mercy Hospital sent DNA samples across the Atlantic for sequencing, and researchers in Britain sent the results back as digital files on CDs.  Kingsmore says his center will receive a HIGH-Seq sequencing machine next month.

In addition to newborns, Kingsmore says investigators have begun running genetic tests on parents to help narrow the search for inherited disorders.

Researchers at Mercy Hospital hope eventually to make the DNA decoding tool available to doctors across the country.

An article by Stephen Kingsmore and his colleagues describing the use of rapid DNA sequencing to diagnose sick newborns is published in the journal Science Translational Medicine.

You May Like

Multimedia Relatives of South Korean Ferry Victims Fire at Authorities

46 people are confirmed dead, but some 250 remain trapped inside sunken ferry More

War Legacy Haunts Vietnam, US Relations

$84 million project aims to clean up soil contaminated by Agent Orange More

Wikipedia Proves Useful for Tracking Flu

Technique gave better results than Center for Disease Control (CDC) and Google’s Flu Trends More

Featured Videos

Your JavaScript is turned off or you have an old version of Adobe's Flash Player. Get the latest Flash player.
Ukraine, Russia, United in Faith, Divided in Politicsi
X
Michael Eckels
April 19, 2014
There is a strong historical religious connection between Russia and Ukraine. But what role is religion playing in the current conflict? In the run-up to Easter, Michael Eckels in Moscow reports for VOA.
Video

Video Ukraine, Russia, United in Faith, Divided in Politics

There is a strong historical religious connection between Russia and Ukraine. But what role is religion playing in the current conflict? In the run-up to Easter, Michael Eckels in Moscow reports for VOA.
Video

Video Face of American Farmer is Changing

The average American farmer is now 58 years old, and farmers 65 and older are the fastest growing segment of the population. It’s a troubling trend signaling big changes ahead for American agriculture as aging farmers retire. Reporter Mike Osborne says a new report from the U.S. Census Bureau is suggesting what some of those changes might look like... and why they might not be so troubling.
Video

Video Donetsk Governor: Ukraine Military Assault 'Delicate But Necessary'

Around a dozen state buildings in eastern Ukraine remain in the hands of pro-Russian protesters who are demanding a referendum on self-rule. The governor of the whole Donetsk region is among those forced out by the protesters. He spoke to VOA's Henry Ridgwell from his temporary new office in Donetsk city.
Video

Video Drones May Soon Send Data From High Seas

Drones are usually associated with unmanned flying vehicles, but autonomous watercraft are also becoming useful tools for jobs ranging from scientific exploration to law enforcement to searching for a missing airliner in the Indian Ocean. VOA’s George Putic reports on sea-faring drones.
Video

Video New Earth-Size Planet Found

Not too big, not too small. Not too hot, not too cold. A newly discovered planet looks just right for life as we know it, according to an international group of astronomers. VOA’s Steve Baragona has more.
Video

Video Copts in Diaspora Worry About Future in Egypt

Around 10 percent of Egypt’s population belong to the Coptic faith, making them the largest Christian minority in the Middle East. But they have become targets of violence since the revolution three years ago. With elections scheduled for May and the struggle between the Egyptian military and Islamists continuing, many Copts abroad are deeply worried about the future of their ancient church. VOA religion correspondent Jerome Socolovsky visited a Coptic church outside Washington DC.
Video

Video Critics Say Venezuelan Protests Test Limits of Military's Support

During the two months of deadly anti-government protests that have rocked the oil-rich nation of Venezuela, President Nicolas Maduro has accused the opposition of trying to initiate a coup. Though a small number of military officers have been arrested for allegedly plotting against the government, VOA’s Brian Padden reports the leadership of the armed forces continues to support the president, at least for now.
Video

Video More Millenials Unplug to Embrace Board Games

A big new trend in the U.S. toy industry has more consumers switching off their high-tech gadgets to play with classic toys, like board games. This is especially true among the so-called millenial generation - those born in the 1980's and 90's. Elizabeth Lee has more from an unusual café in Los Angeles, where the new trend is popular and business is booming.
Video

Video Google Buys Drone Company

In its latest purchase of high-tech companies, Google has acquired a manufacturer of solar-powered drones that can stay in the air almost indefinitely, relaying broadband Internet connection to remote areas. It is seen as yet another step in the U.S. based Web giant’s bid to bring Internet to the whole world. VOA’s George Putic reports.
AppleAndroid