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NHGRI, NICHD Plan $25M Newborn Sequencing Screening Grants Program

NEW YORK (GenomeWeb News) – The National Human Genome Research Institute and the Eunice Kennedy Shriver National Institute of Child Health and Human Development are preparing a new grant program that will provide $25 million to fund studies that look at how genome sequencing may be used in newborn screening.

The five-year grant program, which was cleared for development early this week by the National Advisory Council on Human Genome Research and may be released as an RFA this summer, seeks to fuel research into the challenges and opportunities associated with applying whole genome or whole exome data in newborn care.

These projects will have three central aims: to expand the scale of genomic data on newborns that is available for analysis; to conduct clinical, DNA-based analyses into specific disorders that are identified through newborn screening; and to study the ethical, legal, and social implications that may arise when genome sequencing is applied to newborns.

Although DNA-based testing has not been a primary newborn screening tool, it has been used primarily for confirming the diagnosis of disorders such as cystic fibrosis.

The plummeting cost of DNA sequencing and analysis may enable genome-based newborn screening to expand more widely into clinical care. Recognizing that, NHGRI and NICHD held a workshop in late 2010 to discuss a trans-NIH research agenda that could help encourage studies into the ways genomics could be used in newborn screening. This program was developed as a result of that inter-institute workshop, Anastasia Wise, an epidemiologist at NHGRI's Office of Population Genomics, told GenomeWeb Daily News on Thursday.

"One of the things that came out of that workshop was a feeling among the participants that there would be a lot of value in having pilot studies to evaluate using genomic data in newborns," Wise said.

The group felt that the enhanced availability and cost-effectiveness of sophisticated genome sequencing technologies would soon make it possible to apply sequencing to newborn screening in the clinic, Wise said. The arrival of sequencing in clinical practice for newborns may offer many opportunities and challenges, she explained, so the group thought it wold be useful to start addressing the question of what genome sequencing adds to newborn screening.

"Would you potentially learn additional information that could be important for later clinical care and treatment by doing some of these newborn screening tests in a genomic sequencing fashion? We really don't know if genome sequencing is going to be able to replicate, or potentially augment, the types of results that we get back from the current newborn screening tests," Wise said.

This RFA will fund up to five pilot projects that will collect comprehensive genomic sequence datasets from newborns with known screening results and will seek to demonstrate how genomic information compares with data from the common newborn screening methods.

Because newborn sequencing provides a snapshot of the genome before many environmental factors have been able to affect an individual genome, and because around 99 percent of newborns in this country are screened, genomic information captured from newborns "potentially may be important to the longer term care of these individuals and to the future of genomic medicine applications," Wise explained.

The researchers will assess how genomic sequencing can either replicate or augment known newborn results, the potential use of genomic sequencing for conditions for which screening is not currently conducted, and other clinical information that could be delivered by genome sequencing.

As an example of the types of projects that could be supported by these grants, Wise said, would be to take a known screening test, such as the test for Phenylketonuria, or PKU, an autosomal recessive metabolic genetic disorder, and try to find out if genomic sequencing can replicate those results. They also may try to find out if sequencing can be used to discover other information. "Especially with PKU, there is information based on genotype that could be relevant to whether a drug will function or not," she said.

Another component of these projects will be to delve into the ethical, social, or legal implications of conducting genomic sequencing on newborns.

Wise said that the researchers will try to address the challenges newborn screening poses for policies on informed consent and the return of results, such as what kind of genomic information should be returned to the families or physicians, in what context should it be returned, and to whom. All of the applicants also will be required to detail their plans for obtaining consent in advance, because there are obvious problems associated with consent in newborns who cannot consent for themselves.

NHGRI and NICHD each plan to commit $2.5 million per year over the five year period to fund the projects.