Creating synergy between the clinic and the lab

The researcher within Dr. Rob Hegele is thinking more like a doctor these days. As a clinician-scientist, he is focused on research that directly impacts patients’ lives.
“I’ve had tremendous fun in the lab,” he explained. “Now I’m looking to leave something tangible, and training the next generation of clinician-scientists.”
This focus on translational research is evident in Dr. Hegele’s recent projects and publications.
His lab participated in a global effort to define the causative genes of early heart attacks using exome sequencing. The project, recently published in Nature, was coordinated out of the Broad Institute at MIT and Harvard, and involved approximately 100 co-authors and more than 9,000 patients.
The paper mapped out two genes related to cholesterol metabolism – the LDL-receptor and the APOA5 gene. The latter gene, linked to triglycerides, was surprising to the cardiovascular community, but more familiar to Dr. Hegele – he has noted the relationship between triglyceride levels and heart attacks in his clinic patients.
“This paper definitively links that this gene, which raises triglyceride levels,” said Dr. Hegele. “Now we can look at translating the research into a simple test that doctors can use to predict a patient's future risk. The main focus is to use genetic information to help patients.”
The next step with the research is to adapt it for the clinic and patient tests. “We want to take physicians to the next level,” explained Dr. Hegele. “Rather than just asking about family history, we are looking to the genome and genetic tendency.”
Dr. Hegele has also contributed to two clinical practice guidelines.
He was asked to join a group of international experts to recommend strategies for dealing with statin-related side effects in patients.
"A small percentage of patients will develop side effects on these very useful drugs. These guidelines outline how we can effectively deal with them so the patient can still get the overall benefit of the treatment,” he said.
The second guidelines paper was a Canadian effort and raises awareness about inherited hypercholesterolemia, which is surprisingly common in Canada. If undiagnosed and not properly managed, this condition can result in early heart attacks.
“A typical family doctor will have several of these patients in their practice and may not recognize it,” explained Dr. Hegele. “The guidelines indicate what to do when you come across a patient like this.”
Clinical recommendations are an important component of Dr. Hegele’s work. “Practice guidelines are a real example of knowledge translation,” he said. “This is taking the knowledge, synthesizing it, digesting it and distilling it down to a useful document for practitioners.”