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U.S. to study whether to use genome sequencing for newborns

By Mark Johnson of the Journal Sentinel

The U.S. government has launched a $25 million program to explore the possibility of using whole genome sequencing for newborn babies, a development with the potential to transform American health care.

The five-year research program will involve reading the entire genetic scripts of some 2,000 newborns, a step that could someday lead to vast troves of electronic medical records describing the details of every person's health from day one.

Genetics experts have long discussed this futuristic possibility, but the idea came under serious discussion at the National Institutes of Health about two years ago in the wake of Nic Volker's sequencing and treatment by the Medical College of Wisconsin and Children's Hospital of Wisconsin.

Volker was 4 years old in 2009 when doctors read his genetic script and traced the cause of his disease to a single error in the sequence of 3.2 billion chemical bases. As a result of the diagnosis, Volker received an umbilical cord blood transplant that appears to have saved his life.

"We could each see that this was something looming over the horizon," said Eric D. Green, director of the National Human Genome Research Institute, whose group is collaborating with the National Institute of Child Health and Human Development on the newborn genome sequencing program.

Under the program, researchers at four institutions around the country will examine the benefits and risks of sequencing babies, looking at the accuracy and cost of the tests and the effect they would have on parents and doctors. Their efforts represent a first step into a complex world of new medical possibilities.

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