Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).
Eggermann ThomasMiriam ElbrachtIngo KurthAnders JuulTrine Holm JohannsenIrène NetchineGeorge MastorakosGudmundur JohannssonThomas J MusholtMartin ZenkerDirk PrawittAlberto M PereiraOlaf Hiortnull nullPublished in: Orphanet journal of rare diseases (2020)
The decision on genetic testing in the diagnostic workup of endocrine disorders should be based on their appropriateness to reliably detect the disease-causing and -modifying mutation, their informational value, and cost-effectiveness. The future assessment of data from different omic approaches should be embedded in interdisciplinary discussions using all available clinical and molecular data.