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NIH will award $25 million to projects looking at babies' health


By Jaimy Lee
Posted: September 4, 2013 - 2:15 pm ET
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The National Institutes of Health will award $25 million to four research projects that plan to look at how genomic sequencing in newborns may improve the health of babies.

In one of the projects, two researchers from Brigham and Women's Hospital and Boston Children's Hospital plan to analyze the risk and benefits of providing genome sequencing to newborns and then form clinical protocols addressing how physicians and other healthcare providers should use a baby's genomic information.

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“We're asking the question, if you have this information available, if you have the book of life, if you have every letter of your DNA to look at, how do we use it?” said Dr. Robert Green, a medical geneticist in Brigham and Women's Hospital's division of genetics.

Genome and exome sequencing is a relatively new and unexplored tool for healthcare providers and can raise a number of ethical questions about how the newly discovered genomic data will be used by the patient and the healthcare provider.

These research projects will focus on genomic sequencing and analysis, research related to patient care, and the ethical, legal and social implications for newborns.

“This initiative will help us better understand how we can appropriately use this information to improve health and prevent disease in infants and children,” Dr. Alan Guttmacher, director of the National Institute of Child Health and Human Development, said in a news release.

The BabySeq project in Boston aims to enroll 480 infants, with enrollment expected to begin in the first quarter of 2014. The researchers will sequence 240 participants, half of whom will be healthy babies from Brigham and Women's Hospital and the other half will be sick infants from Boston Children's Hospital's neonatal intensive-care unit. The randomized trial will receive $6 million in funding over the next five years.

The healthy babies will receive conventional newborn screenings, while the sick infants will undergo both the conventional screenings and genome sequencing.

States currently require newborns to be screened for 28 or more diseases or conditions. That screening includes some DNA testing for specific markers.

As part of the project, Green and Alan Beggs, a scientist in Boston Children's division of genetics, will conduct the sequencing and then develop reports that can be easily understood by a pediatrician and the baby's family, who will have the information during the course of the patient's childhood. A genetic counselor will provide the information to the family.

In addition, the researchers will decide what information should and should not be included in the medical record and gather information about how the information will impact the infant's care as well as the relationship between the parents, the baby and the pediatrician.

“We hope to create processes for deciding what information is appropriate to pass on and methods to integrate this kind of information into the practice of medicine,” Green said.

Other grantees include research projects at Children's Mercy Hospital in Kansas City, Mo.; the University of California, San Francisco; and the University of North Carolina at Chapel Hill.

Follow Jaimy Lee on Twitter: @MHjlee


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