Imagine, being diagnosed with Stage IV metastatic breast cancer. Imagine being 41 years old with this diagnosis. Devastating to say the least, especially since even the latest recommendations for breast cancer screening aren’t until 40 years of age. Interesting. But wait, there may be hope for others! 

The CDC identifies 3 “Tier 1” conditions that are “genetic syndromes” with a significant impact on life expectancy that also have definitive, effective therapies. What are the 3 conditions? BRCA1/2 (increased risk for breast/ovarian cancer), Lynch syndrome (increased risk for colon cancer), and familial hypercholesterolemia (increased risk for heart attack, stroke). In each of these cases, there is clear evidence that early intervention can save lives.  

What does this “screening” involve? Well, I am not a scientist, however, having a blood test to perform a process called “genome sequencing” may identify certain mutations that allow for therapy earlier in the disease process. In a video recorded in the Annals of Internal Medicine, the cost and benefit of hypothetical nationwide, universal screening for CDC Tier 1 conditions is discussed and, in the end, it may actually be worth it. Imagine, it is your 30th birthday and your doctor recommends genetic screening, almost as much fun as the 50-year-old colonoscopy – welcome to adulthood! Stay informed and stay well!