Author ORCID Identifier
0009-0002-9732-8186
Date of Graduation
5-2025
Document Type
Thesis (MS)
Program Affiliation
Genetic Counseling
Degree Name
Masters of Science (MS)
Advisor/Committee Chair
Kathryn Leal, MS, CGC
Committee Member
Kathleen Shields, MS, CGC
Committee Member
Paul Hillman, MD, PhD
Committee Member
Laura Farach, MD
Committee Member
Meagan Choates, MS, CGC
Committee Member
Theresa Wittman, MS, CGC
Abstract
This study investigates the difference in diagnostic yield between patients approved for inpatient genetic testing compared to those denied inpatient testing and the effect of an earlier diagnosis on outcomes and medical/clinical care. In the literature, research has explored the impact of a diagnostic delay for patients with genetics conditions, assessed the utility of genetic testing in the inpatient setting, and described the impact to care of an earlier diagnosis. However, gaps remain on research exploring the diagnostic yields of inpatient versus outpatient settings and the potential impact to care an inpatient genetic testing request denial may pose. This is the first study to determine if denial of inpatient genetic testing leads to a diagnostic delay and delay in subsequent medical services that impact care. This study reviewed 1,052 charts of patients admitted inpatient who received a genetic consult between July 2018 and June 2023 and further reviewed charts of children that followed up at the outpatient genetics clinic after inpatient discharge. Data was collected on recommendations for genetic testing, completion of genetic testing, results of genetic testing, and management recommendations based on a diagnosis. Statistical data analysis was completed to identify differences between inpatient and outpatient groups. The results indicated the outpatient group had nearly twice as high diagnostic yield and a 6-month diagnostic delay compared to the inpatient group. Management recommendations did not differ between the groups suggesting a subsequent delay to changes in care for the outpatient group. In addition, public insurance holders took 3 weeks longer to attend the outpatient clinic and private insurance holders were 28% less likely to be approved for inpatient genetic testing. Inclusion of genetic providers in the review of inpatient genetic testing requests should be considered to improve inpatient and outpatient outcomes.
Keywords
inpatient, outpatient, diagnostic yield, case management, approval, denial, genetic tests request, diagnostic delay, impact to care, management recommendations