Stephen Thibodeau Ph.D., a consultant in Mayo Medical Laboratories’ Molecular Genetics Laboratory, along with Iftikhar Kullo, M.D., has received a four-year grant from the National Institutes of Health (NIH), which will support research that incorporates DNA sequence information into electronic medical records. Additional support for this grant opportunity is being provided by the Mayo Clinic Center for Individualized Medicine. The goal of research conducted by the Electronic Medical Records and Genomics (eMERGE) network is to better understand the genomic basis of disease and to tailor medical care to individual patients based on their genomic difference.
The grants, administered by the National Human Genome Research Institute (NHGRI), focus on moving genomics research closer to clinical application by identifying the potential medical effects of rare genomic variants (inherited differences in the DNA code) in about 100 clinically relevant genes. The activity of such genes can affect a person's health, and might affect treatment choices.
The Mayo Medical Laboratories' research team plans to focus on understanding the underlying genetics of two common genetic disorders, familial hypercholesterolemia and familial colorectal cancer. The team will examine the DNA sequences of disease-relevant genes along with a number of genes involved in other clinically important conditions in 3,000 participants with moderate-to-severe hypercholesterolemia or colon polyps. They will then determine which genomic variants are most likely to contribute to these disorders, and which should be discussed with patients, families, and physicians. The team will also examine the economic implications and behavioral and psychosocial consequences of providing such information.
“Next-generation sequencing is a significant advancement in clinical practice as it provides greater insight into our genome,” said Dr. Thibodeau. “By understanding which genetic variants we are born with, we will be in a better position to predict the presence of a disease before the onset of symptoms, to help establish the diagnosis for difficult diagnostic dilemma’s, to more effectively treat patients, and to provide more meaningful information to family members for important genetic conditions.”
About the National Human Genome Research Institute
The National Human Genome Research Institute (NHGRI) is one of the 27 institutes and centers at the National Institutes of Health. The NHGRI Extramural Research Program supports grants for research and training and career development at sites nationwide. For more information, visit www.genome.gov.
About the National Institutes of Health
The National Institutes of Health (NIH), the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, www.nih.gov.