Why Genetic Testing?

At least one in 30 people are a carrier of a genetic disorder. Most carriers don’t have a family history of a genetic disease. Many patients ask us why genetic testing is important to consider? Being a carrier of a genetic disorder does not usually affect one’s individual health, but being a carrier does mean that there is an increased chance for your children to have the disorder if both you and your partner are carriers of the same disorder. Carrier screening is important because if you and your partner are found to be carriers of the same genetic disorder then treatment at an IVF center can effectively minimize the risk of transmission through preimplantation genetic diagnosis or PGD.

PGD requires IVF and ICSI to create embryos that can be biopsied on Day 5 following fertilization so testing can be performed on the biopsied cells to enable transfer of an embryo that does not have the genetic disorder in question. Even if you would not have IVF with embryo biopsy to identify unaffected embryos for transfer, some people find it helpful to know their risks so they have time to prepare in case they have a child with a genetic disorder.

Genetic testing is important because it provides information about your reproductive risks and should be part of routine care in OBGYN and REI offices. Everyone should be aware that genetic testing is available so they are able to decide for themselves what is right for them. If you have more questions, please contact us.