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

Chart: Benefits of working with Progenity

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.

References
1. Expanded Carrier Screening in Reproductive Medicine – Points to Consider. A Joint Statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine. Obstet Gynecol 2015, 0(0): 1-10.
2. Carrier Screening in Individuals of Ashkenazi Jewish Descent. ACMG Practice Guidelines. College of Medical American College of Medical Genetics and Genomics. Genet Med 2008, 10:1:54-56.
3. Preconception and Prenatal Carrier Screening for Genetic Diseases in Individuals of Eastern European Jewish Descent. ACOG Committee Opinion No. 442. American College of Obstetricians and Gynecologists. Obstet Gynecol 2009, 114:950-3.