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Clinical Sequencing Studies Land up to $27M from NIH

NEW YORK (GenomeWeb News) – The National Human Genome Research Institute and the National Cancer Institute have awarded four new grants totaling up to $27 million to fund projects that will study the use of genome sequencing in clinical care. The projects will also examine how patients and doctors engage with each other and use such genomic information.

The new studies, funded under the Clinical Sequencing Exploratory Research, or CSER, program, will investigate the use of genome sequencing to inform couples about reproductive risks, to determine the causes of development delays in childhood and share those findings with parents, and to find genetic alterations that increase cancer risk.

A fourth grant will support a coordinating center at the University of Washington that will assist the other projects based at the Kaiser Research Foundation and Seattle Children's Research Institute, Hudson-Alpha Institute for Biotechnology, and the University of Michigan.

In their first year these projects will receive around $6.7 million, and the eventual total funding will depend on the availability of funds, NHGRI said.

"Since the first round of CSER program awards were announced in 2011, the use of clinical genome sequencing has seen tremendous growth," said Bradley Ozenberger, CSER program director and deputy director of NHGRI's Division of Genomic Medicine, said in a statement.

"Genome sequencing has vast potential to uncover new targets for therapy. We're continuing to learn how best to use genome sequence data to understand disease susceptibility and causation and to advance treatment," he added.

NHGRI created the CSER initiative to address some of the unknown aspects of how the clinical medicine community will use genome sequencing, what kinds of information patients will want to know, and how those interactions will play out.

Ozenberger said that some physicians do not have the experience or education needed to discuss genomic information with their patients and that many patients lack a solid understanding of what such genomic information can and cannot tell them about themselves and their children.

"It's not enough to understand the scientific issues related to the medical applications of genomics. Researchers must also examine how best to discuss genome sequencing results and their potential implications with doctors, patients and caregivers," added Jean McEwen, program director for NHGRI's Ethical, Legal and Social Implications program.

The first round of CSER funding was awarded in late 2011, when NHGRI handed out $40 million to fund five projects, marking its first effort to use, and study the use of, genome sequencing in clinical medicine.

Investigators at Kaiser and Seattle Children's will receive up to $8.1 million to examine the use of whole-genome sequencing to inform prospective parents about their genetic disease status. They plan to compare women and their partners who receive preconception genetic testing to those that receive whole-genome sequencing in addition to the genetic tests. Couples that have mutations that increase risk for genetic disorders will work with a genetic counselor and complete surveys that the researchers will then use to develop approaches to best present this information to patients.

The Hudson-Alpha researchers will receive up to $7.7 million to sequence the genomes of nearly 500 children with developmental delays and their parents, with the aim of finding genomic alterations involved in the diseases. They further plan to provide information on genetic differences to participants and their families and to use questionnaires and interviews to determine the effect that sequencing and genomics tests have on families.

The University of Michigan team may be awarded up to $8 million to sequence the genomes of 500 patients with advanced sarcoma and other rare cancers to find genomic alterations and to develop tailored therapies. They also plan to evaluate the patient consent process, as well as the delivery and use of sequencing results.

Finally, the team at the University of Washington will help organize the studies, interpret results, develop common goals, and provide expertise in clinical genetics, genome sequencing, bioinformatics, and ethics.

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