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Genetic Testing in Endocrinology.

Sunita Mc De Sousa1,2,3, Tristan Se Hardy3,4, Hamish S Scott2,3,5,6,7

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The genomic revolution necessitates better genetic literacy for medical professionals. Genetic testing in endocrinology, particularly for monogenic disorders, is increasingly vital and practice-changing.

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Area of Science:

  • Genetics
  • Endocrinology
  • Medical Science

Background:

  • The genomic revolution has increased genetic testing availability and genetic associations.
  • Next-generation sequencing reduces time and cost for genetic testing.
  • Endocrine disorders, stemming from defined pathways, offer insights into candidate genes.

Purpose of the Study:

  • To discuss genetic testing in contemporary endocrine practice.
  • To highlight the role of genetic testing in endocrine and multisystem disorders with endocrine manifestations.
  • To emphasize the clinical utility and expanding indications for genetic testing in endocrinology.

Main Methods:

  • Review of genetic testing principles in endocrinology.
  • Discussion of monogenic disorders as a primary focus.
  • Examples of endocrine genetic disorders and multisystem disorders with endocrine features.

Main Results:

  • Monogenic disorders constitute the majority of endocrine genetic disorders.
  • Genetic testing for these disorders is understandable, available, and practice-changing.
  • The clinical utility of genetic testing in endocrinology is often underestimated.

Conclusions:

  • Improved genetic literacy is crucial for medical scientists and clinicians.
  • Genetic testing has expanding indications across all areas of endocrinology.
  • Genetic testing results can significantly alter patient management.