Clinical Advantages of Carrier Screening
- Identify carriers of hereditary genetic disorders
- Offer preconception reproductive planning or confirmatory prenatal testing to carriers
- Enable patients to identify resources and understand future medical management
- Help the family prepare
In a diverse and increasingly multiethnic society, carrier screening for inherited genetic disorders is quickly becoming standard of care. Historically, carrier screening was offered only to at-risk populations based on ethnic or racial background. However, while many disorders are rare among the general population, they do occur. A carrier of a hereditary genetic disorder will most likely have a negative family history and no symptoms of the disorder. There are several advantages to screening all patients, regardless of ethnicity:
- Patients in the U.S. represent a multitude of ethnic backgrounds
- Patients may not have complete knowledge of their ancestry, or may not wish to share it
- Complete ethnic background may not be requested during the office visit
- Many hereditary disorders occur outside of the common at-risk populations
Includes ACOG/ACMG Disorders
The Pan-Ethnic Carrier Screening Panel includes all disorders recommended for carrier screening in specific at-risk populations by the American Congress of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG). This allows clinicians to screen for the most common disorders in all at-risk populations, without relying on patients to accurately self-report ancestry.
For a complete listing of disorders included in the test, click here.