Nav: Home

New testing method allows more effective diagnosis of genetically based high cholesterol

October 20, 2016

A new genetic testing method developed at Western University called LipidSeq can identify a genetic basis for high-cholesterol in almost 70 per cent of a targeted patient population. Using next-generation sequencing (NGS) technology, researchers were able to pinpoint specific areas of a person's DNA to more effectively diagnose genetic forms of high-cholesterol, which markedly increase risk for heart attack and stroke.

Dr. Rob Hegele, a Distinguished University Professor at Western University's Schulich School of Medicine & Dentistry and a scientist at Robarts Research Institute says 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.

"Previous studies showed little yield in doing genetic testing," said Hegele, who is also an endocrinologist at London Health Sciences Centre, a Lawson Health Research Institute scientist and a world-leading expert in lipid metabolism disorders. "This new method shows there is a benefit, especially when you can add the extra step of medically selecting those with a familial history of the disease."

The study, published online today in the journal Arteriosclerosis, Thrombosis, and Vascular Biology, 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 per cent. Fifty-four per cent were single gene mutations, and the other 13 per cent 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.

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. Hegele says that while statins, a typically prescribed class of drugs for high cholesterol, 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. 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.
-end-
The study was funded by CIHR, Heart and Stroke Foundation of Canada, and Genome Canada.

MEDIA CONTACT: Crystal Mackay, Media Relations Officer, Schulich School of Medicine & Dentistry, Western University, t. 519.661.2111 ext. 80387, c. 519.933.5944, crystal.mackay@schulich.uwo.ca

@CrystalMackay

ABOUT WESTERN

Western University delivers an academic experience second to none. Since 1878, The Western Experience has combined academic excellence with life-long opportunities for intellectual, social and cultural growth in order to better serve our communities. Our research excellence expands knowledge and drives discovery with real-world application. Western attracts individuals with a broad worldview, seeking to study, influence and lead in the international community.

ABOUT THE SCHULICH SCHOOL OF MEDICINE & DENTISTRY

The Schulich School of Medicine & Dentistry at Western University is one of Canada's preeminent medical and dental schools. Established in 1881, it was one of the founding schools of Western University and is known for being the birthplace of family medicine in Canada. For more than 130 years, the School has demonstrated a commitment to academic excellence and a passion for scientific discovery.

Follow Western Media Relations online:

Website: http://communications.uwo.ca/media/

RSS: http://feeds.feedburner.com/MediaWesternU

Twitter: https://twitter.com/mediawesternu

University of Western Ontario

Related Heart Attack Articles:

Heart cells respond to heart attack and increase the chance of survival
The heart of humans and mice does not completely recover after a heart attack.
A simple method to improve heart-attack repair using stem cell-derived heart muscle cells
The heart cannot regenerate muscle after a heart attack, and this can lead to lethal heart failure.
Mount Sinai discovers placental stem cells that can regenerate heart after heart attack
Study identifies new stem cell type that can significantly improve cardiac function.
Fixing a broken heart: Exploring new ways to heal damage after a heart attack
The days immediately following a heart attack are critical for survivors' longevity and long-term healing of tissue.
Heart patch could limit muscle damage in heart attack aftermath
Guided by computer simulations, an international team of researchers has developed an adhesive patch that can provide support for damaged heart tissue, potentially reducing the stretching of heart muscle that's common after a heart attack.
How the heart sends an SOS signal to bone marrow cells after a heart attack
Exosomes are key to the SOS signal that the heart muscle sends out after a heart attack.
Heart attack patients taken directly to heart centers have better long-term survival
Heart attack patients taken directly to heart centers for lifesaving treatment have better long-term survival than those transferred from another hospital, reports a large observational study presented today at Acute Cardiovascular Care 2019, a European Society of Cardiology congress.
Among heart attack survivors, drug reduces chances of second heart attack or stroke
In a clinical trial involving 18,924 patients from 57 countries who had suffered a recent heart attack or threatened heart attack, researchers at the University of Colorado Anschutz Medical Campus and fellow scientists around the world have found that the cholesterol-lowering drug alirocumab reduced the chance of having additional heart problems or stroke.
Oxygen therapy for patients suffering from a heart attack does not prevent heart failure
Oxygen therapy does not prevent the development of heart failure.
I have had a heart attack. Do I need open heart surgery or a stent?
New advice on the choice between open heart surgery and inserting a stent via a catheter after a heart attack is launched today.
More Heart Attack News and Heart Attack Current Events

Top Science Podcasts

We have hand picked the top science podcasts of 2019.
Now Playing: TED Radio Hour

Risk
Why do we revere risk-takers, even when their actions terrify us? Why are some better at taking risks than others? This hour, TED speakers explore the alluring, dangerous, and calculated sides of risk. Guests include professional rock climber Alex Honnold, economist Mariana Mazzucato, psychology researcher Kashfia Rahman, structural engineer and bridge designer Ian Firth, and risk intelligence expert Dylan Evans.
Now Playing: Science for the People

#541 Wayfinding
These days when we want to know where we are or how to get where we want to go, most of us will pull out a smart phone with a built-in GPS and map app. Some of us old timers might still use an old school paper map from time to time. But we didn't always used to lean so heavily on maps and technology, and in some remote places of the world some people still navigate and wayfind their way without the aid of these tools... and in some cases do better without them. This week, host Rachelle Saunders...
Now Playing: Radiolab

Dolly Parton's America: Neon Moss
Today on Radiolab, we're bringing you the fourth episode of Jad's special series, Dolly Parton's America. In this episode, Jad goes back up the mountain to visit Dolly's actual Tennessee mountain home, where she tells stories about her first trips out of the holler. Back on the mountaintop, standing under the rain by the Little Pigeon River, the trip triggers memories of Jad's first visit to his father's childhood home, and opens the gateway to dizzying stories of music and migration. Support Radiolab today at Radiolab.org/donate.