Genetics and sports medicine: this cardio-genetic test may save your life.

This genetic test for inherited cardiac diseases may actually save your life.

This genetic test for inherited cardiac diseases may actually save your life.

Learn how the PhosphorusONE test can identify athletes at higher risk for Sudden Unexpected Death and help you take actions that may save your life.

What is Sudden Unexpected Death?

Sudden Unexpected Death (SUD) is characterized by just that: an otherwise healthy individual suddenly dies, due to an undiagnosed or often undiscovered medical issue. In the United States, more than 400,000 people die each year of SUD. 

As it turns out, data from the Office of the Chief Medical Examiner (OCME) from New York have suggested that nearly 30 – 40% of undiagnosed SUD is due to genetic conditions such as cardiomyopathies, arrhythmias, and dyslipidemias. Collectively these ‘rare’ genetic diseases impact >1% of the population, yet we don’t usually detect them until after an event. Our goal at Phosphorus is to help detect and prevent these events before they happen!

For athletes, attention to SUD and your personal risk for SUD is very important: athletes are in a higher category of risk for SUD due to the extra strain they place on their cardiovascular system during intense training and performance. 

Keep in mind that a positive mutation increases risk, but it is not a death sentence. Much like carrying a BRCA1/2 mutation for inherited breast cancer does not guarantee you will get breast cancer, carrying a mutation in any of the genes that predispose you to SUD does not mean you will have an event. However, knowing your status is of pivotal in understanding what preventative action to take.

What do I do if I test positive for a mutation that predisposes me for any of these conditions?

A positive result on the PhosphorusONE test is a good warning signal that you might want to pay attention here. Be sure to remember though: just because you carry a mutation that might be associated with one of these conditions, does not mean you will necessarily experience an event at any point in your life. 

  • Speak with a Genetic Counselor: The first thing to do with a positive result is to speak with a Board Certified Genetic Counselor. At Phosphorus, we provide this complimentary as part of the PhosphorusONE test. Your Genetic Counselor can help you to further understand your risk by examining your family history and finding out if you or your family members may have experienced any SUD events in the past.

  • Work with a Specialist: At the end of the day, the results of the PhosphorusONE test can help guide you to a specialist to aid in proactive, preventative care. For example, a mutation in the LDLR gene predisposes you to high cholesterol, and a high likelihood of a heart attack before age 50. A lipidologist can help you to monitor your levels, find the right pharmaceutical interventions, and come up with periodic monitoring to make sure your symptoms do not get worse over time. 

Ultimately, the goal of genetic testing is to make sure you’re getting the right type of care before any severe incident occurs. Being proactive about your genomic health can literally save your life.