Author ORCID Identifier

0009-0005-7766-415X

Date of Graduation

5-2026

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Jordan Zeiger, MS, CGC

Committee Member

Kathryn Leal, MS, CGC

Committee Member

S. Shahrukh Hashmi, MD, PhD

Committee Member

Laura Farach, MD

Committee Member

Paul Hillman, MD

Committee Member

Ann Theresa Wittman, MS, CGC

Committee Member

Tomika Harris, DNP

Abstract

Genetic testing technology is ever evolving. Before 2005, testing consisted primarily of Sanger sequencing and chromosomal studies, but there are now broader technologies like Exome Sequencing (ES) and Genome Sequencing (GS) used regularly in the clinical setting. These technologies have already been evaluated by various groups across the nation, including the pediatric intensive care unit (PICU) and neonatal intensive care unit (NICU), but there have been no studies published describing the efficacy of ES and GS in a multidisciplinary (multi-D) clinic. This study aimed to determine the diagnostic yield of genetic testing methodologies within an outpatient multi-D follow-up clinic for patients with complex medical needs (High Risk Clinic [HRC]) associated with a large academic pediatric group. Using a retrospective chart review of patients enrolled in the HRC on or before December 31, 2024, charts were collected backwards chronologically until 500 charts were collected. Patients were excluded from the study if they were only enrolled in the HRC for research purposes, did not have any phenotypic data in their chart, or were enrolled for non-genetic purposes. Information collected included patient demographics of age, sex, race, insurance status, socioeconomic status, types of genetic testing ordered, results of genetic testing, and involvement of a genetics team with the patient’s care. The diagnostic yield of genetic testing in the HRC was found to be 28.8%. When utilizing both genetic appointments documented in the electronic medical record (EMR) and incorporating a genetics team for variant review, this yield increases by 9% to 37.8%. We also aimed to identify any barriers to genetic testing within this clinic by comparing demographic features of patients who received genetic testing to those who did not. Sixty-one percent of patients did not have genetics involvement in their care.  We found that 27% of patients with private insurance had testing compared to 64% of patients with private and public insurance. The majority of known barriers to medical care did not impact whether someone received genetic testing, nor did they impact whether genetics was involved in their care. These findings indicate the outpatient multi-D population benefits from genetic testing with a high diagnostic yield and the inclusion of genetics specialists increases this yield, highlighting the value of genetic involvement in the care of patients with complex medical needs.

Keywords

genetic testing, diagnostic yield, pediatric genetics, barriers to genetic testing

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