The Human Genome Project was completed in April 2003. Among other goals, approximately 3 billion DNA base pairs were successfully mapped. While useful, that is a lot of data to sift through when making a diagnosis. In an effort to expedite the process of identifying markers for high cholesterol, researchers have identified specific areas of a person’s DNA to more effectively diagnose an increased risk for heart attack and stroke.

Researchers at Western University have developed a genetic testing method called LipidSeq to identify a genetic basis for high-cholesterol in almost 70 percent of targeted patient populations.

Rob Hegele, MD, a Distinguished University Professor at Western University's Schulich School of Medicine & Dentistry and a scientist at Robarts Research Institute, said this new method provides a more cost-effective way to find these genetic links rather than sequencing the entire genome. By pre-identifying patients who have a personal and familial history of high-cholesterol, LipidSeq was able to find a genetic mutation in 67 per cent of those tested.

The results—published in the journal Arteriosclerosis, Thrombosis and Vascular Biology—tracked 313 patients with LDL cholesterol levels above 5.0 mmol/L. LipidSeq was able to identify a genetic mutation in 67 percent of participants. Single gene mutations occurred in 54 percent of the population and 13 percent had polygenic DNA variants.

The percentage of individuals with an identified genetic component increased as cholesterol levels in the patient increased.

LipidSeq is liscensed for use in the U.S. to help clinicians identify patients with genetically-based high-cholesterol in order to safely prescribe drugs.

While statins work well in the majority of the population, they don't bring cholesterol down to target levels in those with severe genetic-forms of the disease, said Hegele. A new class of biologic drugs came onto the market in Canada last year, and while more effective for treating high-cholesterol, they are also more expensive.