Impact of Genetic Testing in Endocrinology Practice: A Single-Center Experience Focused on Lipid and Monogenic Diabetes Disorders
Authors' conclusion
In a real-world academic endocrine practice, genetic testing frequently provided clinically meaningful information and led to direct changes in management. Utility varied by condition and available therapies.
Study context
- Population
- Probands in an adult academic endocrinology practice who underwent clinically indicated genetic testing (NGS panels, targeted Sanger sequencing), mostly for familial hypercholesterolemia, hypertriglyceridemia or monogenic diabetes216 tested
- Participants
- 187 probands
- Outcome
- Clinical utility of genetic testing
Methodological detailssingle-center
- Single-center
Main finding
As reported in the abstract
Genetic test results considered clinically helpful
92.5%
95% CI 87.8–95.5
Specific new clinical action beyond baseline management
17.6%
95% CI 12.9–23.7
Observational data: associations, not effects.
Further findings
Genetic findings
- Pathogenic or likely pathogenic variant and/or high polygenic risk score (≥75th percentile)
- 123 (65.8%)
- Pathogenic or likely pathogenic variant
- 24.6%
- High polygenic risk score (≥75th percentile)
- 46.5%
Indication for testing
- Familial hypercholesterolemia
- 48.1%
- Hypertriglyceridemia
- 35.3%
- Monogenic diabetes
- 21.9%
Original publication
Impact of Genetic Testing in Endocrinology Practice: A Single-Center Experience Focused on Lipid and Monogenic Diabetes Disorders. Endocr Pract. Published 9 April 2026. doi:10.
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