(359) Expanding Obstetric Carrier Screening: Patient knowledge of genes tested and interest in adding cancer-associated genes

The American College of Obstetricians and Gynecologists recommends that all pregnant women receive information regarding expanded carrier screening (ECS), with up to 40% of patients completing ECS. ECS can include hundreds of genes but has, traditionally, excluded genes implicated in hereditary cancer. Our objective is to assess patient knowledge of ECS and interest in concurrent cancer multigene panel testing (CMPT).

Study Design:

In a mixed-methods, quality improvement study, patients were called 2-6 following ECS results. Patients were queried about their understanding of ECS and interest in CMPT. Descriptive statistics were used for quantitative data and grounded theory to perform thematic analysis for qualitative data.

Results:

155 patients were called and 73 reached, among who 67 (43%) agreed to complete the survey (Table 1, demographics). When asked if a provider had explained ECS during a prenatal visit, 63 (94%) said yes, 2 (3%) no, and 2 (3%) unsure. When asked if patients know what ECS evaluates, 34 (50%) said yes, 23 (34%) no, and 10 (15%) unsure. When asked if they believed testing for cancer-related genes was included in ECS, 13 (19%) said yes, 31 (46%) said no, and 23 (34%) were unsure. When asked if they would have opted for testing for cancer-associated genes with ECS if offered, 50 (75%) said yes, 13 (19%) no, and 4 (6%) were unsure. 48 participants provided additional comments, with the themes of increased knowledge, increased anxiety, and cost concerns being the most common (Table 2).

Conclusion:

More than half of patients were unsure or believed that cancer-related genes were included on ECS panels, suggesting a potentially dangerous misunderstanding of the scope of this test and meaning of “negative” results. Furthermore, 75% of patients stated that if offered, they would accept CMPT at time of ECS. As the majority of individuals with hereditary cancer syndromes remain unidentified, pregnancy and ECS may offer a unique window of opportunity for women to engage in discussions around genetic testing and complete potentially lifesaving CMPT.