(532) It takes two: An initiative to increase partner carrier screening rates

Objective:
Expanded carrier screening (ECS) has increased due to its performance in diverse populations. However, there are low rates of partner screening in publicly insured patients. We implemented multiple interventions to increase partner follow up. We compared rates of partner screening before and after these interventions.

Study Design:
This was an IRB approved retrospective cohort study at an academic hospital clinic. From 1/1/2024-2/28/2024, interventions were implemented, specifically, ECS panel was standardized to 113 genes recommended by American College of Medical Genetics, providers were educated, and free concurrent partner screening was offered via blood draw or prepaid saliva kit. The primary outcome was the rate of partner screening in patients who were heterozygous for autosomal recessive (AR) pathogenic variants six months before (7/1/2023 – 12/31/2023) and six months after (3/1/2024 – 8/31/2024) the intervention period. Secondary outcomes included percentage of patients who were heterozygous for AR or X-linked pathogenic variants with standardized ECS, time from patient to partner result, and percentage of couples that carried the same AR pathogenic variant. Descriptive and comparative statistics were used.

Results:
There were 444 patients; 156 pre-intervention and 288 post-intervention (demographics are in Table 1, results are in Table 2). In patients who were heterozygous for AR variants, partner screening rates significantly increased post-intervention (49% vs 71%, p< 0.01). With standardized ECS, 50.0% (144/288) of patients were heterozygous for pathogenic variants. The median time from patient to partner result significantly decreased post-intervention (32 vs 7 days, p< 0.01). Detection of carrier couples increased post-intervention (0% vs 2.43%, p=0.04).

Conclusion:
Standardizing ECS panels, educating providers, and offering free concurrent partner screening increased partner screening rates to 71%, reduced time to partner results by 25 days, and detected more carrier couples. These interventions support equitable access to genetic screening in publicly insured populations.