Genetic Carrier Screening: Is It Right for Me?

By: Jennifer Saucier

If you are pregnant, or are considering becoming pregnant, there are many tests available to you that can help determine your chances of having a healthy child. One such test is known as genetic carrier screening, which determines whether both you and your partner have mutations in the same gene or genes. Having mutations in the same gene would put you at risk of having children with a specific recessively inherited genetic disorder. Common recessive genetic disorders include cystic fibrosis, Tay-Sachs disease, sickle cell anemia and spinal muscular atrophy. Genetic carrier screening is not a mandatory test. If you choose to undergo genetic carrier screening, it is important that you understand both the risks and benefits of this kind of testing before having your blood drawn. Here are some points to consider when making your decision:

•     What is genetic carrier screening?
•     What does this mean to you?
•     Who should consider genetic carrier screening?
•     When should genetic carrier screening be performed?
•     What are your options if you are found to be a carrier?
•     How can you decide if genetic carrier screening is right for you?

Genetic carrier screening (GCS) is a test performed on a blood or saliva sample that determines whether a healthy person is a carrier for one or more genetic disorders. A carrier is someone who has a mutation in one gene of a pair. Carriers are typically healthy, because the other copy of that gene works normally. A person who has two non-working copies of a gene (i.e. mutations in both copies) will be affected by a recessive genetic disorder.

What does this mean to you?

If both you and your partner are carriers for the same genetic disorder, you have a 25% chance (with each pregnancy) of having an affected child. While all people carry a small number of recessive gene mutations, it is only when both parents carry a mutation in the same gene that they are at risk for the disorder to occur in their children. Most people only become aware that they are carriers after having a child with a genetic disorder - or by having GCS. Recent advances in technology now allow for GCS to be performed for many genetic disorders at one time for a relatively low cost. This testing may be called by any number of names, including 'multi-disease genetic carrier screening panel', 'universal genetic carrier screening', or 'all-in-one genetic carrier screening'.

Who should consider GCS?

Anyone planning a pregnancy can choose to have GCS. In the past, genetic carrier screening was only offered to individuals with a family history of a genetic disorder or to people at risk for specific genetic conditions based on their race or ethnicity. Most racial/ethnic groups have one or two conditions that occur more commonly within their populations. For example, cystic fibrosis is relatively common in the Caucasian population, and Tay-Sachs occurs more frequently in the Ashkenazi Jewish population. Now, with the advent of the multi-disease GCS panels mentioned in the section above, anyone who wants additional information about their reproductive risks can request carrier testing, regardless of family history or racial/ethnic background. The information you learn from genetic carrier screening can help guide your reproductive decisions, but the test cannot change your carrier status.

Gene Security Network offers preimplantation genetic diagnosis (PGD) for couples at risk to have children with specific genetic disorders. For more information about genetic carrier screening or PGD, please visit our website at Genetic Carrier Screening at GSN.

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