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Genetic Disorders

Testing for Genetic Disorders

By Carma Haley

There are several types of genetic disorders: recessive, dominant, sex-linked and predisposition. With each, a specific number or type of gene needs to be passed from parent to child in order for the disorder or disease to be evident in the child.

In recessive inherited diseases, two defective genes are passed on to the child. However, in dominantly inherited diseases, only one altered gene need be present for the disorder to be passed from parent to child, and this gene can come from either parent.

Sex-linked diseases are carried on the sex chromosomes – those that determine whether a child will be a boy or a girl – and are most often passed from father to child. A predisposition does not necessarily mean that a child will have a disease, only that the gene for the disease or disorder is within their genetic makeup.

"Sometimes a person can inherit a predisposition to a disease, but then it takes a second event in order to trigger the development for that disease," says Hanson. "There are a number of diseases out there that are thought to be passed on as a result of a predisposition – such as schizophrenia – and even more that are suspected."

Two classic examples of genetic disorders are cystic fibrosis and sickle cell anemia. Cystic fibrosis is the most common genetic disease among Americans of European decent, and sickle cell anemia is the most common among Americans of African decent. In each condition, a specific gene is altered or defective, which causes various cells to malfunction. As with most genetic disorders, the defective gene is known and can be identified with the use of genetic testing.

Is the risk of an inherited disorder reason enough to undergo genetic testing when considering conceiving a child? "If you have a very specific genetic disease or family history of a enetic disorder, then genetic testing and counseling should be done," says Hanson. "Otherwise, it is not necessary for everyone who is trying to conceive to have genetic testing. Everyone has some sort of genetic problem of one sort or another – either a predisposition or an inherited genetic gene. There's always a risk of passing along 'something' when having a baby, but to many, it is a risk worth taking."

Want to see more?

• Assisted Sex Selection: High-Tech Ways to Choose Your Baby's Gender
• Low-Tech Ways to Choose Your Baby's Gender
• Infertility FAQ: Common Questions Answered
• Talk about it!

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