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From a Small Bit of Blood, Questions Arise

Newborns in the United States are routinely tested for certain conditions including metabolic and other disorders, and with advances in whole-genome sequencing, researchers and others wonder whether that approach will soon be incorporated into newborn screening programs to detect an even greater range of diseases.

"The problem is that sequencing provides an enormous range of information, from information that is highly reliable, accurate, and actionable to information that is simply confusing," says Harvard Medical School's Robert Green in a Q&A with Elizabeth Dorfman from the University of Washington at Medscape. "The potential deluge of information that could be available through sequencing technologies would strain the culture and the fabric of the newborn screening world."

Green adds that this is "a moment of tremendous transition" as different aspects of the newborn screening debate evolve: the cost of generating gene-based risk information is declining, people's perceptions of privacy are also changing, and people are becoming less reliant on doctors and others as gatekeepers. "I think all of these forces together will change the ethical perspective about whether and when to receive genetic risk information, and the default mode for handling certain types of information, such as a pathogenic BRCA mutation, may turn out to now be disclosure rather than nondisclosure," he says.

The Scan

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