(847) Evaluation of renewed emphasis on carrier screening at an outpatient obstetrics practice

Genetic carrier screening should be offered to all patients who are pregnant or considering pregnancy. Utilization of this testing was noted to be low at an obstetrics office with an underserved population of approximately 2,700 patients per year. In April 2022, an initiative was enacted to increase the number of patients receiving carrier screening with a standard pan-ethnic 27 mutation panel. This initiative consisted of staff education, updates to the ordering and resulting process, and addition of a program that utilized genetic counselors for positive results. We hypothesized that this quality improvement initiative would significantly increase the proportion of obstetric patients receiving screening and would significantly increase the number of patients identified as carriers.

Study Design:

This is a retrospective cohort study; patients who presented for a new obstetric visit in the 12 weeks following initiative completion were compared to a historical control of patients who received a new obstetric visit in the 3 months prior to the intervention. Within each cohort, charts were reviewed to determine if genetic carrier screening was performed and what the result was. Those with prior carrier screening results were excluded.

Results:

490 patients presented for an initial prenatal visit in the three months prior to the initiative, and 397 have presented in the 12 weeks since the initiative. Logistic regression revealed a significant increase (p < 0.0001) in the percentage of patients who had carrier screening performed post-initiative compared to pre-initiative (44.1% vs 2.9%; OR 26.8, 95% Cl 15.2 – 47.3). There was a five-fold increase in the number of genetic carriers identified after the initiative.

Conclusion:

This quality improvement initiative was successful in increasing the frequency of carrier screening in an underserved population. A significantly higher proportion of patients received screening, leading to an increase in identification of genetic carriers. This study highlights the potential and importance of continued quality improvement work in an obstetrics practice.