The influence of genetics extends well beyond traditionally rare disorders and affects every aspect of medicine, according to Marsha Fearing, MD, MPH, MMSc. The Harvard-trained geneticist explained a wide range of use cases for medical genomics in a recent MEDITECH Doctors’ Hours session.
The hour-long educational event, titled “Genomics in the Era of the Electronic Medical Record,” was co-sponsored by the Boston University Medical Center Office of Continuing Medical Education, and physician attendees earned one continuing medical education (CME) credit for participating.
During the session, Dr. Fearing reviewed the impact of the three fields of genetics on medicine — clinical, molecular, and biochemical — and explained how a patient’s unique genetic profile significantly impacts their overall health and responsiveness to treatment. She specifically highlighted differences in drug metabolism and efficacy.
Fearing illustrated how dosing needs can vary dramatically based on a patient’s genetics, showing how the standard dose of a medication can be unexpectedly toxic, or have no therapeutic benefit, depending on the drug's composition, patient's genes and ability to metabolize. These groups together represent roughly 20 to 30 percent of the general population.
“Given the implications of an individual’s genes on their responsiveness to drugs, it’s very important that we begin to alert physicians to potential drug-gene interactions,” said Fearing.
The antiplatelet medication clopidogrel (also known by the brand name Plavix) was presented as a prime example. Rapid metabolizers are at increased risk of bleeding, while poor metabolizers can experience blood clots. This means that a fifth of the population can have serious adverse effects when physicians follow standard dosing guidance in the absence of genetic information. Moreover, 50 percent of drugs prescribed to patients have no therapeutic benefit.
Fearing was joined during the session by MEDITECH Product Manager Jennifer Ford, who discussed the challenges physicians have historically faced accessing and using genetic data for medical decision making. Ford identified the lack of consistent data standards and the inability of most lab information systems to store complex genetic data as two of the chief reasons it has remained largely locked away from physicians in difficult-to-use reports.
“On top of all of those challenges,” Ford said, “it’s simply not realistic to expect most physicians to keep up with the rapidly changing science, with new genetic mutations and discoveries being reported every month.”
Ford believes that all of these challenges can and will be overcome through effective EHR-based applications that import genetic results directly from labs, parse and store results as discrete data, and present the information to physicians in intuitive ways at the point of care — right inside their EHR workflows. She adds that interpretation and guidance should be offered to help providers understand the data and use it to make informed decisions.
Ford has spent the past four years helping develop Expanse Genomics, MEDITECH’s new genomic medicine solution. Both Fearing and Ford believe that new approaches like Expanse Genomics will allow a wide range of physicians from across specialties to leverage important genetic insights.
