EGL Genetics Blog

6 Points to Consider About Expanded Carrier Screening

Posted by Eleina Cox on Mar 10, 2016 12:00:00 PM

Carrier screening is becoming increasingly popular within the medical field. Ideally, integrated in obstetric care and preconception, carrier screening is an extremely useful tool for any couple considering having children. Keep reading for 6 points to consider about expanded carrier screening.


6 Points to Consider About Expanded Carrier Screening:

  • Carrier screening is not diagnostic. Screening is used to determine if someone has an increased risk of developing a disease.
  • Regardless of ethnicity, couples should be offered screening for the same set of disorders. Although there are inherited disorders that are most often found in specific ethnic populations, there's still a chance an individual of any ethnic group can inherit any genetic disorder. To address this concern, expanded carrier screening was developed, and some panels cover more than 100 inherited disorders.
  • Carrier screening looks for common pathogenic variants (mutations) that are known to cause autosomal recessive disorders and X-linked disorders. An autosomal recessive disorder develops when an individual inherits two abnormal copies of a gene; one abnormal copy from each carrier parent. X-linked disorders describe conditions caused by an abnormal gene located on the X chromosome.AR.png
  • If a pathogenic variant is found in one parent, then the other parent should be tested for the same disorder to determine the risk of their offspring inheriting that genetic disorder.
  • Though screening is not diagnostic, in some cases it may be. For example, a patient has screening and his or her results show two pathogenic variants or mutations within the same gene, which may cause a late-onset type of genetic disorder.
  • Lastly, carrier screening is voluntary and a patient has the right to refuse screening. Also, patients' screening and genetic testing results are protected by the Genetic Information Non-Discrimination Act. This law protects individuals from any form of discrimination by insurance companies and places of employment due to their genetic complement.


Was this list helpful?

If you're a clinician, consider providing these quick pointers to your patients interested in expanded carrier screening as an easy-digestible guide. ACMG, ACOG, NSGC, SMFM, and the Perinatal Quality Foundation released a joint statement to provide education for clinicians and laboratories regarding the use of expanded genetic carrier screening in reproductive medicine, which can be accessed here. 

If you're a patient considering carrier screening, you may want to review these 6 tips with your physician so you're prepared to make an informed decision.


For more information about carrier screening, join us for our next webinar.

 Register for Pan-Ethnic Carrier Screening Webinar



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