Exome & General Genetics

Session # B-290

After 6 years: Diagnostic Exome sequencing expands to the non-geneticists and is becoming a first-line test

  • Study to aimed to assess whether such a shift is also occurring in exome ordering patterns, which would suggest the need for GCs to broaden provider education, communication, and collaborations
  • This study shows an increasing number of non-specialists are ordering DES, which may indicate a need for GCs to collaborate beyond their departments and institutions.
  • The trend towards testing patients with more organ systems involved indicates that DES is increasingly utilized for more multifaceted phenotypes, perhaps prior to the development of all features and younger patients which may indicate that exome is becoming a first-line test.
  • The types of patients undergoing DES are changing as testing becomes more widely known and available, creating a demand for expanded roles of GCs.

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