What Is a Genetic Condition?

A genetic condition is a health problem caused by a difference in a person’s genes.

Genes are the instructions that tell our body how to grow and function. Everyone has about 20,000 genes that come in pairs. We get one copy of each gene from each parent. That’s why genetic conditions run in families.

We all have differences in our genes—that’s what makes us unique. But some genetic differences can cause a problem with a person’s health.

Genetic conditions happen in different ways. For some genetic conditions, a person needs to have a difference in both copies of the gene in a pair. For other conditions, it takes only one copy with a difference to cause the person to have the condition.

What’s a Carrier?

A person who has or “carries” a genetic difference in one copy of a gene but doesn’t have the disease is called a “carrier.”

Many people who are carriers don’t know it because they are generally healthy. And most carriers don’t have symptoms. But for some conditions, carriers can have mild symptoms. People who know they are carriers can be on the lookout for symptoms and tell their doctor.

Why Should Someone Know if They’re a Carrier?

It’s good for a person to know if they are a carrier for a genetic condition because there’s a chance they could pass on the genetic difference to a child. If their partner also is a carrier of the condition and they both pass the gene to their child, the child would have the condition.

There are ways for carriers to lower their chances of passing on a gene for a genetic condition.

How Can a Genetic Counselor Help Me if I’m a Carrier?

Genetic counselors are experts on how conditions can run in families. A genetic counselor can explain to you:

• how parents can pass genetic conditions to their children
• the chances that you’ll have a child with the condition you carry
• your options for having kids if you decide to have a family

The best time to talk with a genetic counselor is well before you’re ready to have kids. That way, you're better prepared when the time comes. A genetic counselor provides support while people decide what is right for them. The counselor doesn’t tell anyone what to do.

Your doctor can connect you with a genetic counselor.

What Should a Carrier Know Before Starting a Family?

It’s a good idea for a carrier to know if their partner is also a carrier.

What Options Do Carriers Have for Starting a Family?

Couples who both are carriers of a condition might want to lower the chances of their child having a condition. It helps to know about the different ways to start a family.

A couple can:

• Get pregnant by having sex. Then, they can decide whether they want to test the fetus before it’s born. People who choose to test will learn if the fetus has the genetic condition they are concerned about. They can talk to their doctors about what they can expect and about their options.
• Use in vitro fertilization (IVF). Sperm and eggs are collected from the couple. Medical experts combine them in a medical lab. The couple can choose to test the embryos for the health condition before any are placed into the woman’s uterus.
• Use IVF with donated eggs or sperm. This method lets a couple use eggs or sperm from a donor who is not a carrier for the health condition.
• Adopt a child. Adoption is an option if you want to avoid the possibility of conceiving a child with a condition that you’re a carrier of. But there’s no guarantee that the birth parents don’t carry the condition or another problem.

Some people decide not to have kids. And that’s OK too. When you know your options, you can make a decision that’s best for you.