Implementation of Genetic Carrier Screening at Gynecologic-Related Visits

To increase patients' knowledge and access to genetic carrier screening (GCS) in a gynecologic setting by implementing a protocol to universally offer GCS education and screening to reproductive-age women during the preconception period at gynecologic-related visits.

The model for improvement quality improvement process model was used to guide this initiative.

Screening for genetic disease has been a part of preconception and genetic care for the past 50 years. Despite its longstanding presence and better accessibility and affordability of testing, there are no established protocols to universally offer screening to reproductive-age women during preconception care in the United States. The project was implemented at an outpatient gynecology clinic in Phoenix, Arizona.

Fifty-one women ages 18 to 51 years.

A protocol was implemented to universally offer expanded GCS and health education to reproductive-age women during the preconception period at gynecologic-related visits. Women's responses to being offered GCS and the rationale for their response was documented on a spreadsheet.

All 51 participants were offered GCS during their visit. None of those 51 participants had any previous knowledge of GCS. All 51 participants declined GCS; reasons included the following: would consider it once closer to childbearing (53%), did not have any childbearing plans (31.3%), did not have any further childbearing plans (9.8%), or were not worried about the possibility of genetic disease (5.8%). None cited cost as a reason for declining GCS. After project completion, 3 of the 51 participants returned to the clinic to undergo GCS, and the clinic has adopted the intervention described here as its standard of care for patients who meet criteria for GCS.

It is imperative to provide health education about GCS to women during preconception care so that they can make informed choices about family planning.