What is Genetic Carrier Screening?

Posted On: November 24, 2020 By Tamar Goldwaser, MD

Before they choose to have children, more and more couples are deciding to pursue genetic carrier screening. These tests determine their risk for passing on a genetic condition to their future children. On Healthful Woman, Dr. Goldwaser explained carrier screening and why “we’re all mutated.” You can listen to that episode on Apple podcasts, Spotify, Soundcloud, or healthfulwoman.com, or learn more about carrier screening below.  

How are Genetic Conditions Passed on to Children? 

Dr. Goldwaser explains that in general we each inherit two copies of a gene, one from each of our parents. In children with recessive” genetic conditions, typically there are mutations present in each of their copies of a gene. Mutations in genes can be passed along for many generations without anyone being affected, because this group of mutated genes are recessive. That means that having half the normal amount of that gene-product is still good enoughSo, it’s possible and common for people to carry gene mutations without knowing.  

What Does it Mean to be a Genetic Carrier? 

To be considered a genetic carrier, an individual would have a mutation in one of their two copies of a gene related to a health condition. This is likely for most individuals due to the recessive quality of mutated genes and the extremely high number of genes that can be affected; Dr. Goldwaser explains that almost everyone is a genetic carrier for something.  

However, couples can have an affected child if each parent is a carrier for the same recessive condition. . This occurs in only about 1% of all couples who have carrier screenings. Even if a couple learns that they are both carriers, this is not a guarantee that their child(ren) will be affected by a condition; there is a 25% chance that their child will be affected  by the  disease their parents are carriers for. If you and your partner are found to be carriers for the same disease, a genetic counselor can help you explore your options and determine the best plan for your family.  

Who Should Have Genetic Carrier Screenings? 

Genetic carrier screenings can determine whether you are a carrier for over 200 conditions. Dr. Goldwaser explains that traditionally, screening for only a couple of conditions is offered to all patients, such as cystic fibrosis. In addition, some couples who fell into certain ethnic groups with higher risks for conditions like Tay-Sachs disease or sickle cell anemia  had carrier screening for these conditions as well.  However, as many people have mixed or unknown ethnic backgrounds, and as more and more conditions can be screened for, the number of couples choosing to pursue carrier screening is growing as well. In particular, patients who have siblings or other close family members who discover they are a carrier may consider carrier screening; this is referred to as “cascade testing.”  

Schedule an Appointment  

To learn more about genetic carrier screening, schedule an appointment by contacting us online or calling our New York, NY office.  

Carnegie Imaging for Women blogs are intended for educational purposes only and do not replace certified professional care. Medical conditions vary and change frequently. Please ask your doctor any questions you may have regarding your condition to receive a proper diagnosis or risk analysis. Thank you!

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