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NIH Grants $10M to Newborn Genome Sequencing Project

The $10-million grant will support research on ways whole genome sequencing can help diagnose birth defects and genetic disorders in newborns.

NIH grants $10 million to a newborn whole genome sequencing project

Source: Thinkstock

By Jessica Kent

- The National Institutes of Health (NIH) has awarded a $10 million, four-year grant to HudsonAlpha Institute of Biotechnology in support of their newborn whole genome sequencing project, which will help with the diagnosis and care of newborns with birth defects and genetic disorders.

HudsonAlpha Institute will collaborate with University of Alabama at Birmingham (UAB) School of Medicine and the University of Mississippi Medical Center for this endeavor.  

“These regional partnerships improve our ability to help children and their families by providing a genetic diagnosis as early as possible,” said HudsonAlpha Faculty Investigator Greg Barsh, MD, PhD.

The project is part of a network of nationwide sites called the Clinical Sequencing Evidence-Generating Research Consortium (CSER2) and will enroll infants in neonatal nurseries with birth defects or other signs of a genetic disorder.

CSER2 builds on HudsonAlpha’s existing large-scale DNA sequencing research project, the Clinical Sequencing Exploratory Research Consortium (CSER).

CSER provided diagnoses for children with intellectual disabilities and developmental delays. To date, the team has sequenced the genomes of almost 500 children and provided more precise diagnoses to nearly 30 percent of participants.  

CSER2 will expand beyond North Alabama to include infants in hospitals in other regions of the Deep South, such as Birmingham, Alabama and Jackson, Mississippi.

“The previous CSER project allowed HudsonAlpha to develop the infrastructure, knowledge, and partnerships needed for genomic medicine, and this new phase of work will build directly upon that foundation, particularly in underserved and diverse populations for whom genomics and genetics have not been accessible,” said HudsonAlpha Faculty Investigator Greg Cooper, PhD.

The National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI) have partnered with the National Institute of Minority Health and Health Disparities (NIMHD) to improve the current processes of recruiting patients to be part of the research.

These organizations are also working to enhance the testing and follow-up of study participants from diverse racial and ethnic groups, as well as participants from previously understudied clinical settings where genomic medicine might be put into practice.

“A major goal of CSER2 is to see if we can empower non-genetics trained health professionals to accurately and thoroughly explain the results of genomic testing to families,” said professor and chair of the UAB Department of Genetics Bruce Korf, MD, PhD.

“Because of a shortage of trained medical geneticists and genetic counselors, we need new paradigms in order to provide the benefits of genomic testing to more patients and families. The need is especially acute in our underserved populations, where new models of return of genomic results could be very valuable in community hospital settings.”

In the fiscal year 2017, CSER2 is awarding four-year grants to six clinical sites, including HudsonAlpha and one coordinating center. The coordinating center will provide the logistical support needed to identify new collaborations that will increase the scientific value of the six individual projects.

All the clinical sites aim to recruit at least 60 percent of participants from diverse or underserved settings. Together, the sites have covered geographical areas from the racially diverse populations in Houston, Texas, to the underrepresented minority populations in Harlem and the Bronx.

Whole genome sequencing has increasingly expanded into the realm of pediatrics, with organizations using the technique to improve care for children with cancer or to accelerate diagnoses in children with unexplained diseases.

CSER2 will add to this existing work and further improve care for ill newborns in all clinical settings. With the help of the coordinating center, CSER2 will continue to develop and enhance the evidence base required to bring genome sequencing to non-academic centers, as well as to diverse patient groups.


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