Scientists develop a new genetic testing method to diagnose high cholesterol

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high cholesterol

In a recent study conducted by the University of Western Ontario, researchers develop a new genetic testing method called LipidSeq.

This method can identify a genetic basis for high-cholesterol in almost 70% of a targeted patient population.

High cholesterol can markedly increase risk for heart attack and stroke, and previous studies showed little yield in doing genetic testing.

Now using next-generation sequencing (NGS) technology, researchers can find specific areas of a person’s DNA to diagnose genetic forms of high cholesterol.

In the study, researchers used the LipidSeq method on 313 patients with LDL cholesterol levels above 5.0 mmol/L who had been referred to the lipid clinic at LHSC.

From those patients, LipidSeq was able to identify a genetic mutation in 67%. 54% were single gene mutations, and the other 13% were polygenic DNA variants, meaning they were a combination of multiple bad genes inherited together.

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

Researchers suggest that 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 is able to find a genetic mutation in 67% of those tested.

This new method shows there is a benefit, especially when researchers can add the extra step of medically selecting those with a familial history of the disease.

* LipidSeq has already been licensed for use in the U.S. to help clinicians identify patients with genetically-based high-cholesterol in order to guide drug prescriptions.

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News source: University of Western Ontario.
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