Endo - Genetic Clinic as a Tool for Better Clinical Yield in Genetic Evaluation of Endocrine Cases
2Human Genetics Institute, Lady Davis Carmel Medical Center Clalit Health Services
Introduction:
Endocrinopathies may have a genetic origin. Identification of the genetic basis of endocrine diseases can shorten the workup process and ameliorate therapy. There is paucity in data regarding the potential effects of integrated clinic in which both endocrinology and genetics specialists see the patient together.
Aim:
Evaluation of endo-genetic clinic impact amongst endocrine patients, on the rate of genetic etiology diagnosis.
Methods:
This is a retrospective trial, of endocrine patients consulted by endo-genetic clinic in Carmel Medical center during 2017-2021.
Results:
During 5 years 210 participants were seen in the endo-genetic clinic. This group had a higher yield of genetic diagnosis compared to the yield of the genetic clinic (20% vs 10%).
Conclusions:
Amongst endocrine patients, endo-genetic clinic is associated with higher genetic diagnosis rate. Further research is needed to assess endo-genetic clinic effect on larger scale data.