Genetic Testing for Couples

Couples wanting children in the 21st century have more options available and decisions to make, due to the science of gene identification and testing. For couples, genetic testing is available to rule out or discover any gene abnormalities that may possibly be passed on to their future children and pose serious health problems. It's important to note that gene testing is not an exact science; the results are predictions and probabilities.

Definition

• Genetic testing is the scientific method for examining the DNA, or genetic makeup, of an individual to identify known genes related to disease and disability.

Function

• Many situations lead couples toward genetic testing: the woman's age, family history of inherited disease, unexplained miscarriages and previous children born with a gene-identified disease or disability. These conditions are all indicators for the possibility of genetic abnormalities.

Pre-Pregnancy Testing

• Carrier testing is performed with a relatively painless blood sample that is examined for specific inherited gene mutations that may be carried from a parent to the child. The role of carrier testing is to rule out or confirm the presence of a dominant gene or a recessive gene. If the couple has created embryos from their sperm and eggs, they can have them tested for genetic disorders--preimplantation genetic diagnosis (PGD)--before the embryos are implanted in the female.

Significance

• Information received from genetic testing can be life-altering for couples. Depending on the test results, the couple may decide to change their plans to conceive children or they may be faced with a prenatal life-or-death decision to carry the baby to term.

  For example, the future mom may discover that she carries the BRACHA genes--BRCA1 and BRCA2--the type of dominant genes commonly associated with breast and ovarian cancer. This discovery is surely a scare for the woman but may also play a role in the couples' decision to bear children with the fear that a future daughter may inherit the mom's mutated gene. In one other example, the couple may discover that they both carry the recessive gene that is associated with cystic fibrosis. A recessive gene requires two carriers-- mom and dad--to pass it along to the child. In this case, the couple may choose to conceive children despite the risk, find a donor embryo, or adopt.

Testing During Pregnancy

• Genetic testing can also be performed during pregnancy. It is most commonly done by taking a sample from the amniotic fluid or a tissue sample from the placenta. Two examples of gene abnormalities searched for during pregnancy are Down syndrome and spina bifida. Although risky, corrective procedures can be performed on the fetus in some cases if genetic testing reveals an abnormality.

Genetic Counseling

• With life-altering decisions at stake, genetic counseling is always suggested and usually required. A genetic counselor is trained to help the couple understand the pros and cons of genetic testing, its results, and the choices available to them.

Cost

• As of 2010, the estimated cost of genetic testing ranged from $200 to $3,000 or more, depending on the given tests. Most insurance companies will not cover genetic testing unless they are ordered to by a physician.