Who should have carrier screening, and when should it be done?

[Anonymous]

Who should have carrier screening, and when should it be done?

[Genetic Counselor]

Current guidelines, from the American College of Medical Genetics and Genomics (2021), recommend offering this screening to everyone who is pregnant or planning a pregnancy — not just people with a family history or a specific ethnic background.
• Everyone who is pregnant or planning a pregnancy Should be offered a standard panel of tests, called Tier 3 screening. It covers 97 genes linked to recessive conditions and 16 genes linked to X-chromosome conditions. These genes were chosen because they cause moderate-to-severe conditions and are common enough to be worth checking. This applies to everyone, no matter their background.
• Partners The partner of a pregnant person can also be tested with the same panel, ideally at the same time. Testing both partners together makes the results easier to understand and act on.
• Best timing Testing before pregnancy gives the most time to think things through and consider every option. Testing during an existing pregnancy is still useful, but leaves fewer choices available.
• When more testing might be needed A doctor may suggest extra or wider testing if there’s a known genetic condition in the family, a family history that raises concern, or if the couple are blood relatives, such as second cousins or closer.
This approach of testing everyone regardless of their ancestry is fairly newer than older methods that only tested people from certain backgrounds. It’s meant to make sure everyone gets fair access to the same information.

[Author]

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