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Updated: May 28, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Improving Access to Expanded Genetic Carrier Screening Through Multimodal Interventions
Lauren N Meiss1, Shefali Pathy1, Sarah E Baxley1
1Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University, New Haven, Connecticut, USA.
None:
Objective: The American College of Obstetricians and Gynecologists recommends offering genetic carrier screening (GCS) to all patients desiring pregnancy or who currently are pregnant. At our urban academic center, we observed that not all appropriate patients were offered GCS. This study aimed to target identified barriers, including health care provider comfort in offering GCS and lack of standardized resources, ultimately increasing the number of patients offered this testing. Methods: This project was implemented in an urban academic medical center's obstetrics and gynecology (OBGYN) clinic. A needs assessment was performed to determine the baseline comfort level of OBGYN providers regarding expanded GCS and identify barriers. Interventions, including a didactic educational session and template changes in the electronic medical record, were tailored to address the identified concerns. The impact of these interventions was evaluated using a postdidactic evaluation, statistical analyses, and tracked documentation of GCS counseling. Results: The average mean number of visits with documentation of GCS preference in the initial obstetric visit in the preintervention period (August to November 2020) was 38%. Preintervention needs assessment revealed limited provider comfort with offering expanded GCS. Evaluations following the didactic session demonstrated a significant increase in providers' comfort levels, particularly regarding pre- and post-GCS test counseling. The average number of visits documenting carrier screening preference substantially increased during and after the study period. Statistical analyses confirmed the significance of these improvements. Conclusions: Despite identified challenges and limitations, targeted educational interventions proved effective in improving provider confidence and increasing the number of visits with documentation of GCS preference.
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