Researchers study value of DNA analysis in screening newborns

The National Institutes of Health is launching an initiative to determine whether sequencing an infant's DNA can improve on the well-established "heel stick" blood test to screen newborns for potentially life-threatening diseases.

The five-year, $25 million project reflects the declining costs of mapping an individual's genetic code and anticipates the day when, if enthusiasts' predictions are borne out, a baby's DNA could be routinely sequenced and stored in a medical record.

But the value of the technology in newborn screening isn't certain, and experts are eager to examine a host of ethical and other questions about the use of genetic information to improve infant care.

Currently, nearly all 4 million infants born in the U.S. each year are tested for up to 31 life-threatening or debilitating conditions through heel-stick programs, in which a drop of blood is taken via a pin-prick in the heel. The programs, administered in each state, detect potentially treatable problems in about 12,500 cases, enabling interventions that can save lives or prevent millions of dollars in lifetime health-care costs, said Alan Guttmacher, director of the National Institute of Child Health and Human Development, which along with the National Human Genome Research Institute is funding the initiative.

One of the big successes of such screening, Dr. Guttmacher said, is for a condition called phenylketonuria, or PKU, an enzyme disorder that leads to the buildup of an amino acid. If the condition is detected before symptoms arise, changes in diet can prevent it, but once symptoms emerge, the disease, marked by serious neurological problems, is irreversible.

But the 31 conditions make up a fraction of as many as 8,000 inheritable disorders that can affect children. States vary in the maladies they test.The hope is that the new effort can "shed light on other disorders and see how genomic data might inform care for newborns generally," Dr. Guttmacher said.

Under the program, the DNA of some 2,000 newborns will be sequenced at five institutions: Brigham and Women's Hospital and Boston Children's Hospital in Boston, which are working jointly; Children's Mercy Hospital in Kansas City, Mo.; University of California, San Francisco; and University of North Carolina at Chapel Hill.

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Researchers study value of DNA analysis in screening newborns