Screening to detect heart attacks in youth athletes

One-on-one with Shaun Francis: Proactive genetic screening can highlight risk for hypertrophic cardiomyopathy

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The Windsor Spitfires hockey team captain, Mickey Renaud, who collapsed and died at the age of 19. The 27-year-old Boston Celtics All-Star, Reggie Lewis, who died during an off-season practice. Or the death during a Russian professional league game of Alexei Cherepanov, a 19-year-old first-round draft pick for the New York Rangers.

I can remember reading about such incidents. In each case, a young athlete, thought to be fit and healthy, is felled by a fatal heart condition. The news is puzzling—how could such a medical incident affect someone in the so-called prime of life?

The most common cause is hypertrophic cardiomyopathy, a hereditary condition that affects about one in 500 people yet can go undetected in even the most fit of athletes. Medcan now offers a genetic test that is designed to screen for individuals who are at an increased risk of developing the condition.

Assessing your risks—and learning about those of your loved ones

A program called proactive genetic screening uses a blood sample to sequence more than 130 different genes to analyze your risk for 45 different inherited health conditions, including hereditary breast and colorectal cancer, inherited arrhythmias, and hypertrophic cardiomyopathy.

Since September 2017, when we first began offering this form of genetic screening, we’ve discovered about 15% of healthy people test positive for a genetic mutation that could affect future health.

Nearly half of them have been positive for cancer-linked mutations, which often sees a genetic counselor recommending further screening, such as an annual breast MRI or colonoscopy. About a third of clients who test positive for mutations are at higher risk of cardiovascular issues.

Another 41% of the people we’ve screened test positive as carriers of genetic mutations. In such cases, one’s DNA may not put you at risk for a condition, but a parent could pass it on to one’s children.

The most common cause of sudden cardiac death in young athletes

If you do carry a mutation for hypertrophic cardiomyopathy, don’t panic. Prognosis for people who have the disease has increased markedly in recent decades. Testing positive doesn’t make a cardiac incident inevitable. Genetics is not destiny—at least, not yet, not as our understanding of our DNA continues to evolve.

One possible course of action if one carries a mutation for hypertrophic cardiomyopathy is to undergo a regular screening echocardiogram, which uses ultrasonic waves to detect the thickening of the heart muscle before it causes a symptom. In severe cases, the treatment for hypertrophic cardiomyopathy can involve surgery, and can extend lifespan to that of an otherwise healthy person.

The future of preventive medicine

Genetic screening is improving medical care in other ways. For example, pharmacogenomics sees DNA analysis revealing how the body is likely to metabolize certain medications—and provides doctors with the ability to cater a prescription to your specific needs. In five years, as the price of genetic testing falls, we believe pharmacogenomics will become a tool employed by better physicians across the system. For now, Medcan remains a market leader in this form of testing.

Another exciting tool on the horizon is something called a liquid biopsy, a way to screen for cancer earlier than ever before. Rather than using an MRI or some other scan to visually detect a cancerous tumor, the liquid biopsy analyzes the DNA in a blood sample to seek the presence of circulating cancer cells. Using this method, we can detect cancer far earlier than we might if we had to rely on the tumor showing up on an MRI. For more on liquid biopsy, check out this month’s Johns Hopkins column and video.

There’s a lot of hype around genetic testing affecting medical care. Medcan is one of the few places where our clients are able to see the future in action. Whether you’re a parent seeking a better idea of the health risks you’re passing to your kids or an athlete looking for peace of mind, Medcan can help you incorporate genetic testing into your healthcare today.

Medcan Chair and CEO Shaun Francis is the author of Eat, Move, Think: The Path to a Healthier, Stronger, Happier You, in stores May 1, 2018, and published by Simon & Schuster.

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