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NIH Seeks Proposals to Study Genomic Sequencing in Newborn Period

Published: Tuesday, August 14, 2012
Last Updated: Tuesday, August 14, 2012
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Funding intended to spur information on implications, potential of new technology.

The National Institutes of Health is seeking proposals for research projects on the implications of information obtained from sequencing the genome to identify diseases in newborns.

The intent of funding such projects is to further the understanding of disorders that appear during the newborn period and to improve treatments for these diseases.

Whole genome sequencing is a laboratory method that can determine the entire DNA sequence of a person's genetic material, or genome, from a DNA sample.

In recent years, genomic technologies have advanced sufficiently so that it may be possible to use individuals' whole genome information to enhance medical care, including the care and treatment of newborns.

According to the funding announcement (,the NIH is seeking proposals "to explore the implications, challenges, and opportunities associated with the possible use of genomic sequence information in the newborn period."

"The use of expanded genomic information has the potential to significantly impact newborn screening in both the clinical and public health setting and benefit numerous infants and children. However, it is vital that the use of genomic technology in newborns is explored in a thoughtful manner by teams of scientists who develop technology, treat children, and examine the ethical, legal and societal implications of implementing such programs." said Tiina Urv, Ph.D., of the Intellectual and Developmental Disabilities Branch of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

DNA-based testing is currently used to confirm diagnoses for some newborn conditions," said Anastasia Wise, Ph.D., Epidemiologist, Office of Population Genomics, NHGRI.

Wise continued, "Pilot studies funded under this program will be useful to determine whether or not having genome sequence information contributes to improved clinical care of newborns."

The five-year program will be co-funded by the NICHD and the National Human Genome Research Institute (NHGRI), both part of NIH.

This program will sponsor research projects that bring together teams of researchers with expertise in the following areas:

• Genomic sequencing and analysis of genomic sequence information. Applying knowledge gained from genomic sequencing to patient care.
• Exploring the ethical, legal, and social implications of genomic information.

Researchers will be asked to answer one or more of the following research questions:

• For disorders currently screened for in newborns, how can genomic sequencing replicate or add to known newborn screening testing?
• What knowledge could genomic sequencing of newborns provide about conditions not currently screened for in newborns?
• What additional information could be learned from genomic sequencing that is relevant to the clinical care of newborns?

Officials at the NICHD and the NHGRI developed this initiative based on the advice of experts who attended a workshop to develop a research agenda on the potential application of genomic technology to newborn screening.

(A summary of the workshop can be found here: ( The institutes currently plan to commit an estimated total of $25 million to the program over 5 years.

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