Master of Science, The Ohio State University, 2024, Genetic Counseling

Background: Multiple congenital anomalies (MCA) are often present in rare diseases and ~80% of rare diseases are of genetic etiology. Many patients must undergo a lengthy diagnostic odyssey to identify a molecular diagnosis. The availability of genetics care varies geographically as genetics healthcare providers tend to be based in larger cities or academic institutions. This study aimed to understand geographical barriers to access to genetic healthcare for children with MCA. Methods: This is a retrospective study of Nationwide Children's Hospital (NCH) patients born between January 1, 2015 to September 15, 2023 who had ICD codes indicating MCA. Geographical location (urban or rural), childhood opportunity index, sex, race, ethnicity, NICU admittance, and epoch (whether genetic testing was initiated before or after 1/1/2020) from 6,144 patients were extracted from the NCH Enterprise Data Warehouse. Survival models were developed for two intervals: 1) time from International Classification of Disease (ICD) codes for MCA appearing in the medical record to the first encounter with a clinic capable of ordering genetic testing and 2) time from the first genetic test ordered to the final result received. Models were stratified by NICU admittance. Results: We found that rurality was not associated with time to event in either model. White patients with MCA were seen in testing-capable clinics sooner and more often than non-white patients, however, once seen, white and non-white patients had similar diagnostic odysseys. Patients who had genetic testing before 2020 were less likely to return for further testing with newly available modalities. Females not in the NICU were more likely to complete their diagnostic odyssey after the first genetic test was ordered compared to otherwise similar males. Discussion: These findings highlight disparities between white and non-white individuals for both NICU and non-NICU cohorts when looking at time from ICD codes for MCA appearin (open full item for complete abstract)

Committee: Bimal Chaudhari MD, MPH (Advisor); Rose Hokanson MS, LGC (Committee Member); Kate Shane-Carson MS, LGC (Committee Member) Subjects: Genetics; Health; Health Care; Medicine; Public Health