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The Genetic Testing USAGE (Utility Survey in an Adult Genetics Environment) Study

Health Services and Implementation
  • Primary Categories:
    • Clinical-Adult
  • Secondary Categories:
    • Clinical-Adult & Pediatric
Introduction:
As genetic and genomic medicine rapidly evolves, there is an increasing need for dedicated Adult Genetics clinics, as more adult patients seek genetics evaluations for diagnosis of new-onset genetic diseases, predictive testing for family histories of genetic disorders, transition from pediatric to adult care, and family planning. However, research on the impact of genetic testing has primarily focused on pediatric patients, with limited studies addressing adult populations. This has led to disparate availability of evidence to support coverage of genetic testing in adults compared to pediatric populations. This study aims to evaluate the clinical and personal utility of genetic testing in adult patients to inform patient care approaches and advocates for broader insurance coverage based on comprehensive utility measurements.

Methods:
Participants were recruited from patients who completed genetic evaluations at the Adult Genetics and Preventative Genomics Clinic (AGPGC) at the University of California, San Francisco, a large tertiary- and quaternary-care academic medical center, between January 2022 and December 2024. Demographic and diagnostic information was collected from the electronic medical record. Participants completed an online survey including questions that were adapted from validated tools on clinical and personal utility to evaluate outcomes related to diagnostic thinking, therapeutic efficacy, and patient outcomes, self-knowledge, reproductive planning, and practical benefits. Data analysis included descriptive statistics for demographic and clinical data as well as comparative analysis of scores for clinical and personal utility outcomes.

 

Results:
While data collection is ongoing, preliminary data from 111 eligible participants show the majority are white (68%), female (64%), and possess at least an undergraduate degree (64%). Most participants (83%) utilized genetic testing for diagnostic purposes, with the most common diagnosis category being neurological/neuromuscular (21%). The primary genetic testing methods were panel testing (53%) and whole-exome sequencing (21%). Initial analyses of survey responses illustrate that patients with a diagnosis report statistically significantly higher average scores in both clinical and personal utility than undiagnosed patients (diagnosed: p=9.3E-11, undiagnosed: p=1.3E-16). The correlation between clinical utility and personal utility is moderately positive for diagnosed patients and weakly positive for undiagnosed ones. Domain averages of personal and clinical utility, covering diagnostic thinking, therapeutic efficacy, and patient outcomes, self-knowledge, reproductive planning, and practical benefits, show that diagnosed individuals have higher scores across all domains, especially in the self-knowledge and practical benefits domains.

Conclusion:
Results of the Genetic Testing USAGE Study indicate that adult patients receiving a genetic diagnosis have enhanced perceived utility, and that personal and clinical utility align more closely for those with a diagnosis, compared to those who did not obtain a diagnosis through their genetic evaluation. This trend suggests that a diagnosis not only enhances clinical understanding, but may also increase patients’ personal insights and the practical relevance they attribute to genetic testing. However, even without a diagnosis, patients still report meaningful levels of personal utility in relation to their genetic testing, highlighting the broader value of genetic testing for adult patients. The study results also suggest that patients’ appreciation for the personal benefits of genetic testing may be growing over time. By providing insight into the dual aspects of utility in genetic testing, this study contributes to the understanding of the adult patient experience and supports ongoing policy discussions around insurance coverage for genetic testing. This research adds to the limited literature on adult genetic populations and underscores the necessity of evaluating both clinical and personal utility in genomic medicine.

Agenda

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