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NHGRI Funds New Clinical Genomics Consortium

NEW YORK (GenomeWeb News) – As part of its plans to help move the human genomic research discoveries out of the lab and into clinical care, the National Human Genome Research Institute has awarded up to $12.8 million to fund new projects to address the challenges that these medical innovations face and the ones they pose.

These four four-year grants, totaling $2.6 million this year, will fund three research projects that tackle certain problems and questions about the use of genomic information in the clinic and a coordinating center that will help support and organize these projects so that they function as a consortium.

The institutions receiving funding include Duke University, the University of Florida, the Icahn School of Medicine at Mount Sinai, and the University of Pennsylvania. The full dollar amounts over the length of the projects may depend on the availability of funds, NHGRI said.

"Groups around the country have begun to explore the use of genomic medicine, and many have been studying new ways to take genomic results and implement them into electronic medical records and clinical care," Heather Junkins, an NHGRI health science analyst, said in a statement. "We're still learning the best ways to do this and putting together a funded consortium of investigators allows people to network, develop best practices and disseminate information."

"A physician may have a pop-up in the patient's electronic record saying that a certain drug should not be used if the patient has a particular condition because of a variant preventing him from metabolizing the medication," added Ebony Bookman, an NHGRI epidemiologist. "A major goal of the projects is the development of clinical decision-support tools to provide physicians useful information so they can make decisions on the spot. We hope these projects will show how genomic medicine will work and will eventually be used in patients."

One of the awards will fund a project at Duke University that will focus on the implementation and use of family health histories in an electronic format.

This project will be led by Geoffrey Ginsburg, director of genomic medicine at the Duke Institute for Genome Sciences and Policy, who helped to develop a family-history software that helps patients provide their information and which could be used in decision-making by physicians and patients.

This project will enable Ginsburg and his partners to apply this software in five healthcare settings, including academic, rural, underserved, and community and family medicine clinics in six states. The investigators will test out the best ways to implement the system where patients provide family histories for certain diseases. Once the patient data is collected, a decision-making program will provide an assessment report to the doctor and patient with recommendations about testing, counseling, and prevention measures.

"We want to show the value of taking accurate and adequate family histories that are patient-driven and develop an instruction book of how to do it universally," Ginsburg said.

"Our aim is to show whether it is feasible and valuable — and translatable — in a number of different environments, and to understand if the use of and outcomes of family history information are different in academic settings compared to practices with rural or underserved patient populations," he added.

Researchers at the Icahn School of Medicine at Mount Sinai, meanwhile, plan to conduct a trial to study the effects of using genomic risk information in the care of African-American patients with high blood pressure and increased risk for chronic kidney disease.

Led by Erwin Bottinger, director of the Charles Bronfman Institute for Personalized Medicine, and Carol Horowitz, an associate professor of health evidence and policy, the project will involve a network of community health centers and primary care physician offices in Harlem, the Bronx, and at Mount Sinai.

According to Bottinger, many African Americans with high blood pressure are at two to three times higher risk for chronic kidney disease, but many do not get proper care, including diagnostic tests or medication to treat both disorders.

This effort will aim to find out if the use of genomic information coupled with electronic medical records can improve care and will focus on a genetic marker called APOL1, which has been strongly linked to high blood pressure and chronic kidney disease in African Americans.

"We are just learning how to use genomic information to benefit patients. We hope our research will create new insights on how to share genomic information with patients, and will show us whether this information can improve primary care and overall health of patients from diverse, underserved communities with common, chronic diseases," Bottinger said.

At the University of Florida, Professors Julie Johnson and Ravi Chandran will use one of the grants to expand an ongoing pharmacogenomic program that so far has focused on the use of a genotype-guided treatment paired with clopidogrel.

They aim to expand the use of clopidogrel, currently used in cardiac patients, in different patients with other disorders, to study the use of different drugs, and to expand the program beyond the UF Health department at the University of Florida.

They plan to implement this genotyping program in a large private health system in Orlando and to engage community centers affiliated with Florida State University. In addition, they will develop training and education courses on pharmacogenomics for students and health professionals.

And the University of Pennsylvania landed a grant to create the coordinating center to support the consortium and to ensure that they collaborate, share data, and work together to develop broad insights and results that could be applied to clinical genomics elsewhere.

"We'll work together with each of the centers and collect information that the sites need to answer broader questions about the implementation of genomic medicine," said Stephen Kimmel, a professor of medicine and epidemiology at Penn. "We want to help establish a framework that can apply to the use of genomics more broadly."

Kimmel said the coordinating center also will focus its attention on the ethical, social, and legal implications of implementing genomics into clinical medicine.

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