Using Electronic Medical Records to Enhance Genetic Research and Public Health

By Kim McCarten, contributor

May 11, 2011 - The growing focus on collecting and connecting personal health information from electronic medical records (EMRs)—or electronic health records (EHRs), as they are often called—has expanded the number of applications of this critical data in its aggregate form. Medical researchers and public health officials are already starting to tap this rich data mine and discovering how real-time access can advance efforts in their respective areas.

Enhancing genetic research

Northwestern University, as part of a consortium comprised of several leading universities and the Mayo Clinic, has been working for the past four years on how EMRs might be used to track genetic patterns linked to disease.

The project, eMERGE (electronic Medical Records and Genomics), has been producing consistent, positive results.

"Genetic studies often required very large sample sizes to achieve statistical significance," said Abel, Kho, M.D., MS, lead investigator for the team at Northwestern. By working together and culling data from multiple sites, "we can pool together [data] to get the larger sample size," allowing teams to have access to greater amounts of data more quickly. This can shorten the time needed to get results and help researchers move more quickly toward clinical trials.

The researchers have already been able to pinpoint some genetic patterns that would have been almost impossible with written paper records.

Northwestern's focus has been on diabetes and asthma, but "each site [looked at] different conditions," said Kho. The list also included peripheral arterial disease, cataracts and dementia. Collectively, they've completed 14 algorithms describing different conditions using the information gathered from the electronic medical records.

Patients agreed to allow their information to be included in the study, and the data has provided information to correctly identify known disease phenotypes with enough positive and negative predictive value for use in genome-wide association studies.

The EMRs captured key information about diagnoses, medications and lab tests, which the team used to define the phenotypes. But information about race/ethnicity, smoking and family history was sporadically collected, which Kho said will need to be improved as they forward in order to use the electronic records "more meaningfully."

Kho also noted, "Despite differences in how [EMRs] were implemented, we could still accurately identify cases and controls for genetic studies."

The next steps are to apply the approach to an expanded list of diseases and to make the information easily accessible to others.

Mayo Clinic is already realizing success from their cancer center/EMR projects, which is enabling detailed analyses and optimizing information about patient options for clinical trials.

Responding to public health crises

As the trend to digitize health information continues to gain momentum, EMRs and health information exchanges (HIEs) could further promote medication safety, efficacy and usage, and document patient side effects—all of which could be useful in emergencies. And arming public health departments with electronic health records gives them a jump on outbreaks and potential epidemics, speeding up the process of issuing media alerts and saving more lives.

The value of off-site information that can be accessed no matter what has happened to the physical structure of a community could be seen last year in Rhode Island, when electronic health records provided quick information about acute illnesses being caused by contaminated water and food in their flooded state, and recently in Japan, where their relatively unformed health information records provided some critical back-up for healthcare staff and early responders.

Even during the slow and inconsistent emergency response in New Orleans after Katrina, the American Journal of Public Health found that Veteran's Administration patients received better, more appropriate and uninterrupted care than non-VA evacuees because of nationwide access to EMRs.

Having lost documentation, medications and other essentials, the access to electronic medical information proved invaluable.

Regional and state efforts

In late April 2011, it was announced that the Metropolitan Chicago Healthcare Council (MCHC) will be constructing the largest urban health information exchange in the country. The MCHC's HIE will allow clinicians to share the digitized medical records of more than 9.4 million patients, linking them with hospital labs at more than 66 Chicago-area hospitals and major outpatient care organizations.

"The HIE will allow our region's health care market to improve efficiency," said Mary Anne Kelly, vice president of MCHC, in a written statement, "by creating a network where health information flows with the patient, no matter where care is received."

Authorized users will be able to see a consolidated view of a patient's medical history, test results and medication information from other providers throughout the region.

A similar system was set up last month in Hawaii, which will serve more than 1,000 physicians.

Federal priorities

Among a number of national priorities, the Health Resources and Services Administration (HRSA) has been particularly concerned about the shortage of personnel available to promote prevention and quality care for chronic and infectious diseases. Having greater access to EMRs will support often short-handed departments with quicker feedback about affected populations.

The Centers for Disease Control and Prevention (CDC) has played an active role in this endeavor, promoting healthcare information technology with training programs, resources for state and local health departments, and project grants.

One pilot project, launched in 2009, has been offering at-service health alerts to providers, focusing specifically on foodborne illnesses, which cause 48 million incidents each year in the United States.

Physicians, nurses and administrative staff enter patient information as usual, and an alert is issued if it matches any current symptom and treatment trends in their area.

The pilot, which is based on more than 17 million patient records, has so far produced enough positive results that the CDC has announced it will expand the program substantially for a next-step, six-month effort, leading ultimately to a nationwide rollout.

This next stage will analyze if the alerts are being triggered appropriately, as “alarm fatigue” has become a problem in some facilities and has been connected to 15 recent patient deaths in northeastern hospitals. This phase will also keep track of how providers are acting on the health alert feedback.

The CDC is tasked with helping U.S. healthcare providers implement EMRs with a phased approach, achieving universal compliance by 2015.