You may have heard of sickle cell disease, but do you know your personal carrier status? This life-threatening disease changes the shape of red blood cells so they don’t travel appropriately in the bloodstreamand can't deliver oxygen properly, causing pain and, over time, organ damage. Here’s the part that surprises people: you can carry the gene change (called sickle cell trait) and have no idea you could pass it to a child. It is most common to be a carrier if you’re of African American or Hispanic/Latino background, and it also turns up more often in Mediterranean, Middle Eastern, and South Asian families.^2,3 

SMA slowly weakens the nerves that tell the muscles to move, breathe, and swallow. In its most serious form, it is one of the leading genetic causes of death in babies; in milder forms, signs may not present until adulthood. The tricky part is that carriers typically do not have any symptoms themselves, so most people have no idea they carry it until a test reveals it. And this one really is for everybody — about 1 in 40 people is a carrier, regardless of their background.⁴

Cystic fibrosis is another disease you’ve likely heard of, but may not know your risk of passing on to your biological children. It causes the body to produce thick, sticky mucus that clogs up the lungs and digestive system, leading to repeat upper respiratory infections, lung scarring, and a shorter life expectancy. CF is one of the most common inherited conditions (approximately 1 in 25 Americans of European descent is a carrier⁵ ), which is why carrier screening for this condition is recommended for anyone thinking about starting a family. While it’s most common in people of Northern European background, cases are present in every ethnic group.⁵

Tay-Sachs is a devastating disease that gradually damages the nerve cells in the brain and spinal cord. It is usually fatal in early childhood. If you are a carrier, you would likely have no way of knowing this without a genetic test. Many people associate Tay-Sachs with Ashkenazi Jewish ancestry, but it’s also more common in those with French-Canadian, Cajun/Louisiana, or Irish roots, which is why screening shouldn’t be limited to just one community.⁶

With thalassemias, the body doesn’t make enough healthy hemoglobin (the part of your blood that carries oxygen), so those affected by the condition struggle with feeling tired and run-down, and over time, this condition can affect the bones and heart. A simple carrier screen can catch the risk to offspring before you start a family. It is most common in people of Mediterranean, Middle Eastern, Asian, and African backgrounds.⁷

Lynch syndrome is the most common inherited cause of colon cancer, and it also raises the chances of uterine, ovarian, stomach, and other cancers. It’s more common than most people realize (affecting around 1 in 300 people), yet the majority of those who have Lynch syndrome do not know.⁸ Testing is especially valuable for those for whom cancer (especially colon or uterine) tends to run in the family, was diagnosed prior to or at age 50, or appears across multiple relatives and generations on the same side of the family.

You’ve probably heard of the BRCA1 and BRCA2 genes, but there are many more genes associated with increased risk of cancer that are also worth knowing about. Changes in the BRCA genes, and other genes like PALB2, CHEK2, MLH1, MSH2, and ATM, can significantly increase the lifetime odds of breast, ovarian, prostate, colorectal, renal, endometrial, endocrine, pancreatic, and other cancers. These gene changes affect both men and women.^9,10 Learning you carry one of these gene mutations gives you and your doctor the chance to screen earlier or take additional steps to lower your lifetime risk. It’s especially worth getting screened if these cancers run in your family, or if there’s a known increased risk for inherited gene changes in your racial or ethnic community.