Why expanded carrier screening?

Making an informed decision

Because any patient, regardless of ethnicity, can be a carrier of a severe genetic disorder, you play a critical role in helping them understand risks that could impact their future.

Genetic carrier screening provides a better understanding of the likelihood and potential impact of inherited genetic disorders. Traditionally, it has been used with at-risk populations based on ethnicity, focusing on only one or two of the most likely disorders.

However, carrier screening defined by ethnicity can overlook important insights that you and your patients need. Today, advances in NGS have led to expanded carrier screening, making it easier to screen for a greater number of disorders.

“...particular disorders are less likely to be confined only to a specific high-
risk ethnic group because of the increasing frequency of ethnic admixture
of reproductive partners.”1 — The American College of Obstetricians and Gynecologists

 

ACOG, ACMG, and Jewish advocacy groups have highlighted the many advantages of providing expanded carrier screening to all patients, including:

  • Overcoming inaccurate knowledge of ancestry in our increasingly multi-ethnic society2
  • Identifying the genetic conditions that do not occur solely in specific ethnic groups2
  • Ensuring universal coverage for all patients of all ethnicities2

Despite the benefits of expanded carrier screening, the volume of results it can yield and knowing how they apply in a clinical setting can become overwhelming.

To help patients understand their risks, they need screening that starts with knowing where to look and ends with a clear, concise, actionable interpretation of their results.

 

Please visit QHerit.com/ClinicalInfo for additional clinical information and references.

References:
1. American College of Obstetricians and Gynecologists’ Committee on Genetics. Committee Opinion No. 690. Carrier screening in the age of genomic medicine. Obstet Gynecol. 2017:129:e35–40.
2. Edwards JG, Feldman G, Goldberg J, et al. 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. 2015:125(3):653-662.