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NIH program explores the use of genomic sequencing in newborn healthcare
Date:9/4/2013

athan Berg, M.D., Ph.D.

In this pilot project, researchers will identify, confront and overcome the challenges that must be met in order to implement genomic sequencing technology to a diverse newborn population. The researchers will sequence the exomes of healthy infants and infants with known conditions such as phenylketonuria, cystic fibrosis or other disorders involving metabolism. Their goal is to help identify the best ways to return results to doctors and parents. The investigators will the explore the ethical, legal and social issues involved in helping doctors and parents make informed decisions, and develop best practices for returning results to parents after testing. The researchers will also develop a tool to help parents understand what the results mean and examine extra challenges that doctors may face as this new technology is used. This study will place a special emphasis on including multicultural families.

"These pilot studies build upon the nation's very successful public health newborn screening programs that reach almost all infants born in the United States," said Dr. Guttmacher. "We will carefully evaluate the use of genomic data in newborns, including how best to deliver genomic information to parents and healthcare providers, to see how we can improve our care of children, who are, of course, our future."

The following numbers represent the newly funded grants: 1U19HD077693-01; 1U19HD077632-01; 1U19HD077627-01; and 1U19HD077671-01.


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Contact: Steven Benowitz
steven.benowitz@nih.gov
301-451-8325
NIH/National Human Genome Research Institute
Source:Eurekalert

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