Up-front vs. post-reporting parental co-segregation analysis: Is one approach superior?

Post-reporting analysis resulted in a VUS reduction rate of 39%, nearly double the rate of VUS reduction from up-front analysis (19%), likely due to additional available resources subsequent to the original report, such as newly published literature and database info; however, this results in an extended TAT of 8-12 weeks.

•Up-front analysis provides comprehensive results in a single report within the clinical reporting TAT (3-10 weeks, depending on test panel); however, variant assessment is limited to the resources available at the time, including absence of the second parent’s sample (approx. 40% of cases).

•Providing multiple options for obtaining parental co-seg analysis increases provider and patient access to this service and allows for the highest yield of informative results

 

  • Type: Platform
  • Title: Up-front vs. post-reporting parental co-segregation analysis: Is one approach superior?
  • Speakers: Elaine Weltmer
  • Collaborators:
  • Tradeshow: National Society of Genetic Counselors (NSGC)
  • Date: Saturday, Sep 16, 2017 12:30pm-12:45pm