Electronic medical records may accelerate genome-driven diagnoses and treatments

April 1, 2010, Cell Press

A new study reveals an exciting potential benefit of the rapidly accumulating databases of health care information, the ability to make unprecedented links between genomic data and clinical medicine. The research, published by Cell Press in the April issue of the American Journal of Human Genetics, supports the idea that large scale DNA databanks linked to electronic medical record (EMR) systems provide a valuable platform for discovering, assessing and validating associations between genes and diseases.

"The deployment of EMRs offers the hope of improving routine care, not only by enhancing individual practitioner access to patient information but also by aggregating information for clinical research," explains senior study author Dr. Dan M. Roden from Vanderbilt University School of Medicine in Nashville Tennessee. "EMRs contain large populations with diverse diseases and have the potential to act as platforms for rapid and inexpensive creation of large inclusive patient sets."

Dr. Roden and colleagues in informatics and in genome science were interested in examining whether large biorepositories containing DNA samples linked to EMRs might be useful for discovering and incorporating new genotype-phenotype associations. "Implementing such a vision requires that major obstacles be overcome, including technological, computational, ethical, and financial issues and determining whether genomic information will meaningfully inform clinical decision making and health care outcomes," says Dr. Roden.

The researchers used BioVU, the Vanderbilt DNA databank, to detect known common genetic variants associated with five diseases: atrial fibrillation, , multiple sclerosis, and . It took only four months to generate a set of nearly 10,000 records from which the cases and controls were identified. Although the process of accessing and defining the samples was technically complex, for each of the five phenotypes, at least one previously reported genetic association was replicated.

These results support the use DNA resources coupled to EMR systems as a valuable tool for clinical research. "Our data demonstrate that phenotypes representing clinical diagnoses can be extracted from EMR systems, and support the use of DNA resources coupled to EMR systems as tools for rapid generation of large datasets required for replication of associations found in research and for discovery in genome science," concludes Dr. Roden.

More information: Ritchie et al.: “Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record.” Publishing in the American Journal of Human Genetics, April 9, 2010.

Related Stories

Recommended for you

Add broken DNA repair to the list of inherited colorectal cancer risk factors

February 23, 2018
An analysis of nearly 3,800 colorectal cancer patients—the largest germline risk study for this cancer to date—reveals opportunities for improved risk screening and, possibly, treatment.

Team identifies genetic defect that may cause rare movement disorder

February 22, 2018
A Massachusetts General Hospital (MGH)-led research team has found that a defect in transcription of the TAF1 gene may be the cause of X-linked dystonia parkinsonism (XDP), a rare and severe neurodegenerative disease. The ...

Defects on regulators of disease-causing proteins can cause neurological disease

February 22, 2018
When the protein Ataxin1 accumulates in neurons it causes a neurological condition called spinocerebellar ataxia type 1 (SCA1), a disease characterized by progressive problems with balance. Ataxin1 accumulates because of ...

15 new genes identified that shape human faces

February 20, 2018
Researchers from KU Leuven (Belgium) and the universities of Pittsburgh, Stanford, and Penn State have identified 15 genes that determine facial features. The findings were published in Nature Genetics.

New algorithm can pinpoint mutations favored by natural selection in large sections of the human genome

February 20, 2018
A team of scientists has developed an algorithm that can accurately pinpoint, in large regions of the human genome, mutations favored by natural selection. The finding provides deeper insight into how evolution works, and ...

New software helps detect adaptive genetic mutations

February 20, 2018
Researchers from Brown University have developed a new method for sifting through genomic data in search of genetic variants that have helped populations adapt to their environments. The technique, dubbed SWIF(r), could be ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.