Date of Award
5-2024
Document Type
Thesis - Closed Access
Degree Name
MS in Human Genetics
First Advisor
Katie Gallagher
Second Advisor
John Greally
Third Advisor
Monisha Sebastin
Abstract
This study aimed to assess the attitudes of genetics providers regarding a clinical decision aid designed to assist in genetic diagnosis of rare pediatric disease. User experience, expectations, and opinions were investigated related to clinical decision and AI-driven software in healthcare diagnostics. Six participants employed at Montefiore Medical Center, who have experience ordering whole genome sequencing, were selected to participate in a semi-structured interview assessing their opinions and expectations for a clinical decision aid, GenomeDiver, designed to improve lab-clinician communication. Responses were assessed via manifest and latent content analysis, which was mutually reviewed for coder consensus. While all participants believed GenomeDiver could be helpful for genetic diagnostics, particularly in the case of complex patient presentations or variants of uncertain significance, they expressed concern about the risk of misinterpretation by untrained individuals, risk to patient-provider relationships, and the logistics of setting up and using the tool in a clinical setting. The results of our study highlight important considerations to be made in the development of software designed to improve diagnosis through genetic testing and help providers harness the power of “big data” in genomic diagnostics.
Recommended Citation
Reiter, Ariella and Inman, Kristina, "An Assessment of Genetics Providers’ Attitudes and Expectations for a Reverse Phenotyping Clinical Decision Aid" (2024). Human Genetics Theses. 126.
https://digitalcommons.slc.edu/genetics_etd/126
Included in
Applied Ethics Commons, Artificial Intelligence and Robotics Commons, Diagnosis Commons, Diseases Commons, Genetics Commons, Genomics Commons, Medical Genetics Commons