A company says its can deliver a $1,000 genome, but common use of genomic sequencing to diagnose inherited disorders in newborns isn't anywhere near imminent.

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According to Dr. Valle, questions remain about whether large-scale genomic sequencing gives information with clinical use in infants.

A spokesman from Ion Torrent, the San Francisco, California-based company that created the Benchtop Ion Proton Sequencer, says the product will be available by the end of September. It can sequence an entire human genome in one day for an estimated $1,000 because the machine's microchip is more powerful than anything else on the market, according to a January 2012 company news release. But the company has not released costs of the microchips and reagents necessary for whole genome or whole exome sequencing. The sequencer costs $149,000, a price that is hundreds of thousands of dollars cheaper than others on the market.

“This isn't just about technology. We want to look at what testing means to the family and the child.”

—Tina Urv, PhD

Crucial questions remain about whether large-scale genomic sequencing provides information with clinical use in infants, says David Valle, MD, Professor and Director of the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University School of Medicine in Baltimore, Maryland. “Is there clinical utility in identifying variation in genes whose protein products interact with the disease gene implicated tandem mass spectrometry newborn screening? Will this knowledge be useful in individualizing the results leading to more effective treatment?” says Dr. Valle, who is also Director of the Center for Inherited Disease Research at Johns Hopkins.

A group of experts from the National Institutes of Health (NIH), three medical institutions conducting genomic research, and a state newborn screening program formulated these questions at a December 2010 NIH meeting co-chaired by Dr. Valle. The group was charged with advising the NIH regarding future research on the use of genomic technologies in newborn screening. A resulting research proposal on the NIH web site may lead to funding for four to five pilot studies involving large genomic sequence data sets from newborns with positive screens. Along with clinical implications, the pilots would also determine legal, ethical, and societal implications of genomic screening. “We're trying to look at this as a whole package, to look at tough questions in a thoughtful manner,” says Tina Urv, PhD, Health Sciences Administrator at the National Institute of Child Health and Human Development in Bethesda, Maryland. “This isn't just about technology. We want to look at what testing means to the family and the child.”

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A recent article in the Journal of the American Medical Association by Aaron Goldenberg, PhD, MPH, of Case Western Reserve University, and Richard Sharp, PhD, of the Cleveland Clinic, raise several ethical and societal questions regarding use of genomic technology in newborn screening programs (Goldenberg Shapre, 2012).

Among the questions asked in the editorial are: Do detection and reporting of disorders that do not require immediate attention in the newborn period go beyond core goals of newborn screening? Can clinicians interpret and convey to patients the meaning of vast amounts of genetic data? What unwanted psychological and social burdens does genomic testing place on families? How will states use newborns' genetic information?

In the editorial Drs. Goldenberg and Sharp state that genomic sequencing may eventually improve newborn screening programs, but that its implementation without due diligence “could ultimately place children at risk.”

As for sequencing technology's use in both first-line newborn and prenatal screening, a March American College of Medical Genetics and Genomics policy statement recommends against it. That's because “one would have to open the window very wide” on which gene variants would identify infants who need second tier tests to eliminate false positives, says ACMG Executive Director Michael Watson, PhD. Too many babies would need these second tier tests, he adds.

According to Dr. Valle, genomic sequencing would also identify genetic variants of unknown clinical significance. “In the future, it may be the way to go, but at the present time it would be advisable only in research settings,” he says.


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