Genetic Diseases

What Are Genetic Diseases?

Almost every family is affected by a genetic disease or condition. Genetic diseases are transmitted from parent to child through the genes. Certain diseases are caused when both genes of a pair have mutations. This is called a recessive disease. Both parents must be carriers of the same recessive gene to pass the disease on to their children. Carriers do not have the disease.

When both parents are carriers, they have a 1 in 4 chance with every pregnancy of having an affected child, a 2 in 4 chance of having a child who is an unaffected carrier, and a 1 in 4 chance of having an unaffected, non-carrier child.

If only one member of a couple is a carrier, they cannot have an affected child. However, they do have a 50% chance with every pregnancy of having a child who is a carrier. It is important, therefore, for both members of each couple to be tested prior to starting a family or as soon as a pregnancy is confirmed.

If you are found to be a non-carrier, you will know that you cannot produce a child with the disease.

If you are identified as a carrier, it is important to remember that carriers do not have the disease. They simply carry genetic information which can be passed on to their children. As a carrier, you will want to alert close family members to be tested. It is especially important for your spouse to be tested before you start a family.

If you and your partner are both found to be carriers, a genetic counselor can explain the various options open to you when you are planning your family.

Medical science has shown that for inherited genetic diseases there are common approaches for diagnosis, prevention, treatment, and future cure.