Health Experiences of Patients with RUNX1 Familial Platelet Disorder Compared to a General Population Dataset
Faculty Mentor
Monika Zak
Area of Research
Genetics
Major
Master of Science in Genetic Counseling
Description
INTRODUCTION: RUNX1 Familial Platelet Disorder (RUNX1-FPD) is classically associated with thrombocytopenia, prolonged bleeding, and increased risk for myeloid malignancy. There is a gap in the literature regarding non-hematologic health experiences that may affect patients with RUNX1-FPD. This study evaluated the prevalence of non-hematologic outcomes reported in individuals with RUNX1-FPD compared to a general population cohort with the goal of including them as a part of the risk profile presented to patients in a genetic counseling session.
METHOD: A cross-sectional secondary analysis was performed using self-reported, de-identified data from the RUNX1 Research Program Patient Data Hub, utilizing the All of Us dataset as a general population reference cohort. A domain first two step analysis was performed first comparing broader symptom domains within the two cohorts. For the domains which showed evidence of enrichment, related subfeatures were analyzed. The analysis was performed using Fisher’s exact test and Benjamini-Hochberg’s false discovery rate control. Effect sizes were summarized using odds ratios with 95% confidence intervals. Several broad domains demonstrated evidence of enrichment in the RUNX1 cohort compared to the All of Us reference cohort. A follow up analysis identified subfeatures which contributed to these domain level signals. However, the confidence intervals were wide, reflecting the small cell counts and denominators in the RUNX1 cohort.
DISCUSSION/CONCLUSION: The findings of this study support a broader risk profile of RUNX1- FPD, beyond hematologic outcomes. The results highlight domains which, if included in genetic counseling sessions, may be useful in anticipatory guidance and supporting more appropriate surveillance. Larger studies with standardized phenotyping and longitudinal follow-up are needed to clarify the natural history of the non-hematologic manifestations of RUNX1-FPD.
Health Experiences of Patients with RUNX1 Familial Platelet Disorder Compared to a General Population Dataset
INTRODUCTION: RUNX1 Familial Platelet Disorder (RUNX1-FPD) is classically associated with thrombocytopenia, prolonged bleeding, and increased risk for myeloid malignancy. There is a gap in the literature regarding non-hematologic health experiences that may affect patients with RUNX1-FPD. This study evaluated the prevalence of non-hematologic outcomes reported in individuals with RUNX1-FPD compared to a general population cohort with the goal of including them as a part of the risk profile presented to patients in a genetic counseling session.
METHOD: A cross-sectional secondary analysis was performed using self-reported, de-identified data from the RUNX1 Research Program Patient Data Hub, utilizing the All of Us dataset as a general population reference cohort. A domain first two step analysis was performed first comparing broader symptom domains within the two cohorts. For the domains which showed evidence of enrichment, related subfeatures were analyzed. The analysis was performed using Fisher’s exact test and Benjamini-Hochberg’s false discovery rate control. Effect sizes were summarized using odds ratios with 95% confidence intervals. Several broad domains demonstrated evidence of enrichment in the RUNX1 cohort compared to the All of Us reference cohort. A follow up analysis identified subfeatures which contributed to these domain level signals. However, the confidence intervals were wide, reflecting the small cell counts and denominators in the RUNX1 cohort.
DISCUSSION/CONCLUSION: The findings of this study support a broader risk profile of RUNX1- FPD, beyond hematologic outcomes. The results highlight domains which, if included in genetic counseling sessions, may be useful in anticipatory guidance and supporting more appropriate surveillance. Larger studies with standardized phenotyping and longitudinal follow-up are needed to clarify the natural history of the non-hematologic manifestations of RUNX1-FPD.