The National Institutes of Health plans to fund projects that study the impact of whole-genome sequencing as a screening tool in newborns.
In a request for proposals, the NIH's National Human Genome Research Institute and the Eunice Kennedy Shriver National Institute of Child Health and Human Development said they would provide $25 million for five years.
The NIH is looking for proposals designed "to explore the implications, challenges, and opportunities associated with the possible use of genomic sequence information in the newborn period," according to the funding announcement.
Tiina Urv, coordinator for the research program in newborn screening in the Intellectual and Developmental Disabilities branch of NICHD, told Clinical Sequencing News that the goal is to fund several different projects that involve different stakeholders such as technology developers, clinicians, patient groups, and academic groups.
To receive funding, each proposal should include research in three main areas: the analysis of genomic data from newborns; clinical research to advance the understanding of identifiable disorders from newborn sequencing; and research related to the ethical, legal, and social implications of newborn sequencing.
"This technology is going to move forward whether the community is ready or not. What we need to do is look at the issues and be ready to answer these questions in a thoughtful way," Urv said.
The goals of the project include evaluating sequencing for its use in the clinic. "What is the benefit of adding this genomic information, and can it really help treat the children?" Urv said.
Currently, newborns are screened for around 30 different conditions, although the exact conditions vary state-by-state, said Anastasia Wise, an epidemiologist with NHGRI. Research groups that apply for funding will be required to do either whole-genome or whole-exome sequencing and compare the results of the sequencing to the clinical data that is currently collected to see whether the genomic data can provide clinically relevant findings that wouldn't have otherwise been uncovered.
Additionally, the proposals should address practical issues, like where and how to store newborn whole-genome sequence data, who will have access to the data, and how privacy and legal issues will be handled, she said.
"We're interested in the legal status of the newborns undergoing sequencing," said Wise. While consent for the sequencing would initially be given by the parents, whether the individual would have to re-consent when he or she turns 18 is unclear. Additionally, "what are the potential lifelong implications of having [a whole genome sequence] and how do you need to tailor informed consent?" she added.
Interested parties should submit a letter of intent by Oct. 19 and a full application by Nov. 19. The earliest start date for the grants is July 2013.