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In a recent episode of the “Healthful Woman” podcast “Carrier Screening Revisited: The case for universal, expanded carrier screening,” hosted by Dr. Nathan Fox, geneticist Dr. Tamar Goldwaser provided an enlightening discussion on the importance and evolution of carrier screening in genetics. This conversation sheds light on how carrier screening has transformed over time to a more comprehensive and accessible approach.

What is Carrier Screening?

Carrier screening is a genetic test used to determine whether an individual carries a genetic change in certain genes that could lead to  genetic disorders. Traditionally, these tests were offered based on self-reported ethnicity, which can be inaccurate. Dr. Goldwaser stated, “It used to be, and it probably still is in a lot of places, that depending on your reported ethnicity or reported background, you were offered different tests.” Dr. Goldwaser and a team from the American College of Medical Genetics and Genomics (ACMGG) advocate for a universal approach, recommending that every patient be screened for 113 specific genes when preparing for a pregnancy.  This aims to provide equitable healthcare by eliminating ethnic biases and ensuring that all potential genetic carriers are identified, regardless of background.

Benefits of Carrier Screening

The primary benefit of universal carrier screening, as discussed by Dr. Goldwaser, is the equitable access to information which can avail future parents of the current available reproductive options.  Economically, advances in genetic testing technology have significantly reduced costs, making these important tests more affordable to a broader audience. Moving away from ethnicity-based testing minimizes the risk of overlooking carriers due to inaccurate or incomplete ethnic information. This inclusivity ensures that more individuals know their genetic carrier status before starting a family. ,

The Role of Carrier Screening in Modern Healthcare

Carrier screening is crucial in modern healthcare by providing critical information that can influence family planning decisions. For couples considering children, understanding their carrier status for specific genetic conditions allows them to make informed decisions about their reproductive options. For example, if both partners are carriers of the same genetic condition, they have a 25% chance with each pregnancy of having a child affected by that condition. This knowledge empowers them to consider alternatives such as IVF with preimplantation genetic testing (PGT)  to reduce the risk of having an affected child.

The Importance of Carrier Screening

The new carrier screening guidelines, published by the ACMGG with Dr. Tamar Goldwaser as a co-author,recommend a population-neutral approach to carrier screening by recommending that all patients be offered testing for the same 113 conditions. The guidelines were written to expand access to genetic testing to all populationsand underscore the importance of universal carrier screening in providing equitable and comprehensive healthcare. As genetic testing becomes more integrated into routine healthcare, preconception and prenatal care, it promises to enhance the well-being of future generations by allowing for better-informed health decisions and proactive management of genetic risks. When expecting parents know that their child might have a certain medical condition, it allows them time to meet with experts and plan for the safest delivery and immediate postnatal care. This information is also useful in planning for a future pregnancy.

Schedule an Appointment

For those interested in learning more about their genetic carrier status  and considering family planning, scheduling an appointment at Carnegie Imaging for Women can provide valuable insights and guidance. Fill out our online contact form to schedule an appointment today.

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!