Most Common Genetic Diseases Tested

brad schaeffer medcomp

When we look in a mirror, we can see our genes in action. Perhaps you got your hair texture from your mom or eye color from your dad. Just about everything you see is a visual representation of your genes in action. 

But Brad Schaeffer of Medcomp Sciences explains that genes also determine much of what happens that goes much deeper than skin. Learn more about how genetic testing could benefit you or your child’s health and why you should ask your doctor about testing your genes and possible mutations you’ve inherited. 

Prenatal Testing

Suppose you plan to become a parent, or you or your partner are currently pregnant. In that case, prenatal testing is an excellent way to help you make the best decisions about conceiving and what additional care might be required after a child’s born. 

Parents’ Screening Test

Rather than testing the child directly, parents can be screened for genetic traits that might contribute to a risk for the child. Here are disease markers that doctors look for in future parents:

  • Cystic Fibrosis. If both parents have this gene, the inheritance rate is 25% and means a much lower life expectancy for children.
  • Tay-Sachs. Children who inherit the disease from their parents often don’t live past five years old. If a screening shows a higher likelihood of producing a child with Tay-Sachs, intervention can be done so a couple can reproduce without passing on the gene.
brad schaeffer medcomp

Presymptomatic Testing

Genetic testing may be done to determine what treatment is recommended if you’re beginning to show unexplained symptoms. However, you don’t always need to wait for symptoms to appear to learn more about your genes. 

With Presymptomatic testing, you can see if you’re predisposed to disease and see what actions you can take to prevent symptoms or prepare for when they appear. Testing is particularly imperative if your family has a history of a specific disease, especially a close family member. 

Here is a list of some genetic diseases you should test for preemptively: 

  • Breast and Ovarian Cancers. If a woman has a harmful variant of BRCA genes, they are five times more likely to develop one of these cancers.
  • Parkinson’s Disease. You may be able to enroll early in clinical trials and lower the severity of symptoms later on or get early, life-improving treatment if you test positive for this gene mutation.
  • Hereditary Hemochromatosis. If a close relative has ever suffered from high iron levels or hemochromatosis, you should be tested as well. The disease can lead to severe organ failure, but early testing can help prevent serious cases.

Stay Informed About Your Health

We don’t want to leave our health up to chance. If you’re in a position to run genetic tests to better understand your body or the potential risks for your child, use it as an opportunity to get ahead of potential problems. 

However, don’t let results get in the way of you enjoying life. Use the information you gain to simply make better decisions or feel more prepared for the future. Your genetic makeup could provide valuable insights, so follow your doctor’s recommendations and get tested for common genetic diseases. 

Brad Schaeffer MedComp
Brad Schaeffer of MedComp Sciences blogs about news in the medical research field.

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