Exome & General Genetics

Session # C-291

Challenges of Diagnostic Exome Sequencing: A Patient for Life and Implications for Genetic Counselors

  • At Ambry, when a potential finding is found in an exome case over a year old, providers are contacted to supply updated clinical information and new samples for Sanger confirmation, if needed. This study is the results of our lab’s DES reclassification efforts and shows how time consuming it is for labs and providers.
  • The additional information needed for accurate reanalysis and reclassification of novel candidate genes provides challenges to both the laboratories and providers who have seen these patients.
  • While reclassification is beneficial for proper diagnosis, and treatment and counseling of patients and a legal obligation, the data suggests that the need for a simplified method of recontacting the patient directly, so as not to further burden busy providers.

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