World Bulletin / News Desk
U.S. scientists have sequenced the entire genetic code of four gravely ill newborns and identified genetic diseases in three of them in two days, quick enough to help doctors make treatment decisions.
Doctors behind the preliminary study released on Wednesday say it demonstrates a practical use for whole genome sequencing, in which researchers analyze all 3.2 billion chemical "bases" or "letters" that make up the human genetic code.
"It is now feasible to decode an entire genome and provide interim results back to the physician in two days," said Dr. Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children's Mercy medical center in Kansas City, Missouri, whose study was published in the journal Science Translational Medicine.
The study tested two software programs developed at Children's Mercy that were used in conjunction with a high-speed gene sequencer from Illumina called HiSeq 2500, which can sequence an entire genome in about 25 hours.
The company helped pay for the study and company researchers took part in it.
Next-generation gene sequencing machines have driven down the cost of whole genome sequencing, but making practical use of the data has been more challenging, largely because of the time it takes to analyze all of the data.
As many as a third of babies admitted to a neonatal intensive care unit in the United States have some form of genetic disease. Treatments are currently available for more than 500 diseases, but identifying them quickly has been a problem.
Typically, genetic testing on newborns using conventional methods takes four to six weeks, long enough that the infant has either died or been sent home.
"Up until now, they have really had to practice medicine blindfolded," Kingsmore said in a telephone briefing with reporters.
Dr. Neil Miller, director of informatics at Children's Mercy, said the software programs help doctors identify which genes to test, and analyze the data quickly.
One of these programs, called SSAGA, allows doctors to order this test based on the child's symptoms, without having to know in advance which genes to test for.
The software only maps genes associated with the child's symptoms. SSAGA does this for nearly 600 diseases, but the team is expanding this to include all 3,500 known disease genes, Miller told the briefing.
The team developed a second software program called Runes that helps determine which of the suspected genes was most likely to be the cause of the child's illness.
In the study, the team tested the system on four seriously ill babies whose conditions were suspected of having a genetic cause. Only one of the infants is still alive, a boy born with a rare heart defect that the team discovered is also shared by the child's 6-year-old brother. The infant underwent heart surgery.
The testing also was able to diagnose a rare form of epilepsy in a baby girl, and identify the likely cause of a rare and lethal skin condition in a baby boy, which arose from a new genetic mutation that was not passed down from either parent. The team was unable to find out what caused another boy's heart defect.
"We basically struck out completely, for now anyway," said Dr. Carol Saunders, clinical lab director at the hospital who helped interpreted the study results.
Even though the study did not provide cures for the babies, she said, it could give parents more information about the cause of their child's illness and allow them to make decisions about what kinds of treatments they wanted to pursue.
The test is projected to cost $13,500, but the team believes that may be worth it given the high cost of care in a neonatal intensive care unit, which runs roughly $8,000 per night.
The next move is to broaden the test to include 100 or more babies to determine the benefits, costs and potential problems linked with the testing.
Because the Illumina machine was not available in the United States, the team had to discount the time it took to ship the blood samples to Britain, where the actual sequencing was done.
But Kingsmore said the hospital expects to receive its own HiSeq 2500 machine next month. Eventually, the hospital hopes to have its testing validated, so the researchers can do genetic testing on newborns in hospitals across the United States.
Device can be used in the field without special equipment, according to developers
The technique involved transplanting what are known as olfactory ensheathing cells into the patient's spinal cord and constructing a "nerve bridge" between two stumps of the damaged spinal column.
The meeting in Cuba is aimed at keeping Ebola at bay and it brings together senior officials from the ALBA bloc of nations
Wildlife conservationists have struggled to reverse a decline in numbers of several African species, undermined by ferocious poaching by gangs which mostly ship the ivory to Asia.
Jerald Dennis is feeling stigmatized by his neighbors and has been shunned by his friends
Peru's 2,679 glaciers, spread over 19 snow-capped mountain ranges, are the source of the vast majority of the country's drinking water.
Some 85 percent of people said they thought the disease spread through sneezing or coughing, despite the fact that the World Health Organization regards that type of transmission as unlikely
No approved specific drug or treatment available for battling fatal pandemic virus hitting many West African countries
The death toll so far in the outbreak, first reported in Guinea in March, has reached 4,447 from a total of 8,914 cases, said WHO Assistant Director General Bruce Aylward.
The world's fifth-largest user of nuclear power has around 70 percent, or nearly 9,000 tonnes, of its used fuel stacked in temporary storage pools
The Supreme Council of Health said the infected was a 71-year-old Qatari national who suffered diabetes mellitus, according to the official Qatari news agency
Several airlines have cut flights to the region and there are reports of countries not allowing air ambulances to make refueling stops
A top U.N. official said response to a $1 billion funding appeal had been slow and that a surge in trained healthcare personnel was needed to tackle the crisis
The findings show the pressing need to detect lung cancer before it has shape-shifted into multiple malignant clones.
Second most severe warning issued for extremely heavy smog, air pollution enveloping capital Beijing, Hebei province.
One Ugandan has already died of the virus, which last appeared in the country two years ago killing six people