Expanded Carrier Screening (ECS)

Expanded carrier screening (ECS) is a genetic testing method that screens for a range of inherited genetic conditions in prospective and soon-to-be parents. The National Society of Genetic Counselors recently published an evidence-based practice guideline for ECS as a tool for reproductive risk assessment.

What is Expanded Carrier Screening?

Expanded carrier screening allows couples to understand their risk of passing on genetic conditions to their children, and enables them to make informed decisions about their family planning options. The guidelines emphasize the importance of ECS as a comprehensive screening tool, which includes a wide range of genetic conditions that can be passed down from parents/donors to offspring. This is in contrast to traditional carrier screening, which typically only screens for a limited number of conditions, usually based on a family history and ethnic background.

The guidelines highlights the need for genetic counseling before and after ECS testing. This is because ECS results can have a significant impact on an individual's reproductive decision making and family life, and a genetic counselor can help individuals understand their results and make informed decisions. The guidelines also recommend that ECS be offered as a routine part of preconception care and be made available to all individuals, regardless of their ethnicity or family history.

The guidelines emphasize the need for genetic counseling before and after ECS testing to ensure that individuals receive the support and information they need to make informed decisions about their health and their future.

Why should I do Expanded Carrier Screening?

One of the key benefits of ECS is that it can detect a wider range of genetic conditions, including those that are more common in certain ethnic populations. This can help identify couples who are at higher risk of having a child with a genetic condition and enable them to take appropriate measures to reduce that risk.

Overall, ECS is a valuable tool that can help individuals understand their risk of passing on genetic conditions to their children and make informed decisions about their family planning options.