You can’t change your genes, but you can change your behavior. You can take steps to prevent disease, lower your risk, or find problems early when treatments work best.
Considering Carrier Screening
Family health history is important when considering your own health and the conditions you will want to be aware of and discuss with your doctor. It’s also important to consider family health history when you are thinking about having a child.
Ask your family.
Even if you think you know about the health risks that run in your family, there are some questions that you will want to ask specifically when you are thinking about having a child or are already pregnant. You should ask your family members directly if there is any history of miscarriage or of early fatalities in the family. This might not be something that they think to mention when you ask about health history, so be sure to ask these questions specifically. However, think beforehand about to whom you will ask these questions, as these subjects can be very sensitive.
Know your heritage and your partner’s too.
Some genetic conditions are more prevalent in some ethnicities or cultural communities than in others. Especially if you and your partner have a similar ethnic background, it’s a good idea to consider if you are at greater risk of passing down any disease-causing mutations. Those of Ashkenazi Jewish descent, for example, are more likely than the general population to “carry” the recessive gene for Tay-Sachs disease, a life threatening and incredibly severe disease of the nervous system. And European Americans overall are at greater risk for being carriers of the gene that causes cystic fibrosis, a life threatening disease that affects the lungs and the digestive tract.
To “carry” a gene or to be a “carrier” means that one of your copies of this gene actually has a rare disease causing mutation. However, because you have two copies of this gene and one is perfectly normal, you will not have any disease symptoms. Having this mutation yourself, in most cases, will have no effect on your personal health, but you will want to consider the possibility that you could pass this mutation down to your children. If a child inherits two copies of a gene with a disease-causing mutation, one from each parent, then the child will have the disease. For more information on autosomal recessive inheritance, visit our page on Main Inheritance Patterns.
It’s a good idea to include information about your heritage in your family health history and to ask your doctor if you might be at risk for being a carrier for any serious conditions. If your primary care doctor is not familiar with carrier screening specific to your ethnic background, you might want to ask your OB/GYN or a genetic counselor if you and your partner are at risk for passing any serious conditions on to your children.
Think about getting screened.
Even if you don’t find any evidence of rare diseases in your family health history, it’s still a good idea to consider the possibility that you and your partner could be carriers for a rare genetic disease. Many of these diseases that are linked to certain ethnicities are inherited “recessively,” meaning that, while you and your partner show absolutely no symptoms of a disease, you could carry one copy of a gene mutation that causes a rare genetic disease. If both you and your partner are found to be carriers of such a disease, there is a 25% chance that any child you have together will have the disease, even though you both are perfectly healthy.
What can you do?
Getting screened might seem frightening, but even if you do find out that you and your partner are carriers for a certain disease, there are plenty of options that can help you have a healthy child. You should talk with your healthcare provider and OB/GYN about your concerns and the available options should you discover that you at risk for passing on a disease to your children.
If you are already pregnant, CVS or amniocentesis can help you find out if your child has inherited a genetic condition. If your child has inherited a rare condition, there are still several options to consider, including taking the time to prepare for a child with special healthcare needs or choosing to end the pregnancy. Knowing about conditions as early as possible can sometimes help improve overall outcomes, so discuss your options with your doctor.