Resident Western University Western University Toronto, Ontario, Canada
Disclosure(s): I do not have a relationship with a for-profit and/or a not-for-profit organization to disclose
Blinded Abstract: Impact of Genetic Testing in Clinical Endocrinology Practice
Advances in genetic testing have allowed for increasingly personalized health care; while many endocrinological conditions are sporadic and impacted by environmental factors, there are several conditions which have strong genetic determinants. This single-centre, retrospective descriptive study aimed to characterize the use and impacts of genetic testing in endocrinology clinical practice.
216 adults and children underwent genetic testing using next generation sequencing (n=183) or Sanger sequencing (n=33). After excluding individuals not seen clinically, family members of included probands, and those with incomplete results, 187 individuals were included in the analysis. Tested conditions were most commonly familial hypercholesterolemia (48.1%), severe hypertriglyceridemia (35.3%), and monogenic diabetes (21.9%). Other tested conditions included lipodystrophy, elevated high-density lipoprotein, familial hypocalciuric hypercalcemia, thyroid hormone resistance, and familial pheochromocytoma and paraganglioma syndromes. 57.2% of included individuals were female, and 77.0% of individuals had a positive family history of relevant health conditions. 70.6% of individuals had positive genetic findings, including pathogenic rare variants, high polygenic risk for hypercholesterolemia and/or hypertriglyceridemia, or variants of uncertain significance. 84.5% of genetic test results were considered clinically useful, and specific clinical action was taken in 23.5% of cases as a result of genetic findings. Actions taken included intensifying or de-intensifying treatment regimens and qualifying for drug coverage
These findings indicate that more widespread testing would inform clinical practice in many cases, help with selecting and accessing the most appropriate treatment options, and provide patients and families guidance on potential health risks.
