Implementation of Genetic Carrier Screening at Gynecologic-Related Visits.

Area of Science:

• Reproductive Health
• Medical Genetics
• Public Health

Background:

• Genetic carrier screening (GCS) is crucial for preconception care but lacks universal protocols in the US.
• Existing GCS is accessible and affordable, yet not routinely offered during preconception visits.
• A quality improvement initiative aimed to address this gap in an outpatient gynecology setting.

Purpose of the Study:

• To enhance patient knowledge and access to GCS within a gynecologic practice.
• To implement a protocol for universal GCS education and screening for reproductive-age women.
• To integrate GCS into routine preconception care during gynecologic visits.

Main Methods:

• A quality improvement model guided the initiative.
• A protocol was implemented to universally offer expanded GCS and health education.
• Patient responses and reasons for accepting or declining GCS were documented.

Main Results:

• All 51 participants (ages 18-51) were offered GCS; none had prior knowledge.
• All participants initially declined GCS, citing reasons such as timing, lack of childbearing plans, or low perceived risk.
• 3 participants later returned for GCS, and the clinic adopted the protocol as standard care.

Conclusions:

• Health education on GCS during preconception care is vital for informed family planning decisions.
• Despite initial declines, the implemented protocol was adopted as standard care, indicating potential for future success.
• Further research may explore optimal timing and methods for GCS education in diverse populations.