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NIH grants examine how genomic information can affect patients' health

New projects focus on inherited forms of diabetes, use of pharmacogenomics

hysician looking at a computer screen with genomic data (illustration). Original photo by Daniel Sone, NCI New National Institutes of Health (NIH) grants aim to gauge if genomics can be used to help diagnose diabetes, keep heart disease patients out of hospitals and guide cancer clinicians and patients to the most effective drugs. These pilot demonstration awards, totaling more than $11 million, are part of the Implementing Genomics in Practice (IGNITE) program administered by the National Human Genome Research Institute (NHGRI), part of NIH.

All three projects extend beyond the academic medical center and explore the use of genomic medicine in community-based clinics and primary care practices, and include rural, minority and other underserved populations. Two grants focus on the use of pharmacogenomics, which studies how a patient's genetic make-up affects drug responses. A third grant examines the role of genomic information in diagnosing and treating inherited forms of diabetes.

This is the second round of IGNITE grants. Last year, four research teams received four-year awards totaling approximately $12.8 million.

"The latest IGNITE-supported projects seek to show how using genomic information can impact health and, in particular, how it can be applied in varied healthcare environments," said Program Director Ebony Madden, Ph.D., an epidemiologist in the NHGRI Division of Genomic Medicine. "Showing genomics can be used in broader, community-based medical settings must happen for genomic medicine to eventually gain wider use."

The four-year grants of approximately $3.7 million each, pending available funds, were awarded to:

  • Joshua Denny, M.D. and Mia Levy, M.D., Ph.D., Vanderbilt University Medical Center, Nashville, Tennessee for studies on genomically guided prescriptions of cardiovascular and cancer drugs.
  • David Flockhart, M.D., Ph.D., Indiana University-Purdue University at Indianapolis for studies on genomically guided prescriptions of 24 widely used drugs.
  • Toni Pollin, Ph.D., University of Maryland, Baltimore, for research on inherited diabetes.

Using genomics to prescribe heart and cancer drugs

At Vanderbilt University Medical Center in Nashville, researchers hope to show that adding genomic information into electronic health records can guide drug prescribing and treatment decisions, and ultimately improve health.

Investigators will build on two existing programs at Vanderbilt. The Pharmacogenomic Resource for Enhanced Decisions in Care and Treatment (PREDICT) tests potentially at-risk patients for variants that are associated with drugs for cardiovascular and other diseases, such as the blood thinning drugs, clopidogrel and warfarin, and immunosuppressants. The Personal Cancer Medicine Initiative (PCMI) tests lung cancer, breast cancer, colorectal cancer and melanoma patients for known gene mutations, which in turn, may help treatment decisions.

In a new program, the Integrated, Individualized and Intelligent Prescribing Project (I3P), researchers will expand the outreach of PREDICT and PCMI into three healthcare systems, including a community health system in Wisconsin and Illinois, and two medical centers in Nashville, one of which largely cares for underserved minority patients. The study will examine specific drug-gene associations in the three cardiovascular drugs and in two targeted cancer drugs, erlotinib and vemurafenib. The researchers plan to look for inherited mutations and variants - different versions of a gene - in 35,000 patients that could change the potential effectiveness of the drugs. They also plan to evaluate whether their results change physician attitudes toward the use of genomic medicine.

"We would like to know if adding genetic information makes a difference in doctor's prescribing habits, and if it affects their medical outcomes," said Dr. Denny.

Using genomics to guide use of common medications

Cost is an important concern in the practical implementation of genomic information in patient care. Investigators at the Indiana University School of Medicine in Indianapolis plan to study whether testing for 51 genomic variants that can affect responses to 24 widely used drugs can help clinicians make better treatment decisions. Researchers will test whether genetic testing will reduce patients' hospital stays and outpatient costs, and improve patient outcomes.

In this research project, a group of clinicians and information scientists will conduct a clinical trial of approximately 6,000 patients to measure cost effectiveness and clinical outcomes of using pharmacogenomics, examining whether clinical genotyping can help improve patients' health more than it might without such information.

Researchers at the Indiana Institute for Personalized Medicine will team up with a community-based health system of primary care and specialty clinics to examine if such testing will reduce the number of adverse drug reactions. They will also be determining whether genomic information will facilitate safer prescribing, reduce the number of doctors' visits and cut down on hospital readmissions.

Scientists will test the utility of this approach in community-based settings, and in rural, underserved and economically disadvantaged populations. "We need to figure out not only whether using genomics in the clinic can be helpful to patients, but also if it will be cost-effective," said Dr. Flockhart.

Tailoring diabetes treatments

All too often, monogenic diabetes - which accounts for more than 250,000 cases in the United States - is misdiagnosed, mistaken for the more common types of diabetes, such as type 1 and type 2 diabetes. These patients often receive inadequate treatment.  Investigators at the University of Maryland plan to use questionnaires, electronic health records and family histories, along with DNA sequencing, to identify patients and families with monogenic diabetes, which is caused by the inheritance of a single mutation, or change, in one of several genes. They will sequence DNA in roughly 700 individuals with diabetes to test for changes in 40 genes in those considered likely to have monogenic diabetes, and subsequently work with healthcare providers to implement gene-based treatment recommendations. The project expands a pilot personalized medicine program at the University of Maryland, taking genetic screening to community-based diabetes clinics and elsewhere.

The study could have broader implications, said Dr. Pollin. "Finding these genes and variants underlying monogenic diabetes, and understanding their role in disease development - as well as how to assure optimal diagnosis and treatment in today's health care system - will help us learn more about diabetes in general, and help us diagnose and treat all types of the disease."

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Last Updated: October 23, 2014