DTC Testing: The Good, The Bad and The Raw Data

  • The explosion of direct-to-consumer (DTC) genetic testing over the last few years has created a lot of interest  -- beyond ancestry, health traits and wine preferences. Many of these DTC labs also release raw data to the consumer; this often leaves many individuals interested in what these findings mean and the potential impact on their healthcare management

    Ambry Genetics conducted a study, recently published in Genetics in Medicine to assess how often alterations detected in direct-to-consumer testing (DTC) were found to be false positives. Our results demonstrated a 40% false positive rate, highlighting the importance of confirming DTC raw data alterations in a clinical laboratory that is experienced in complex alteration detection and classification, especially prior to making any medical management recommendations.


Stephany earned her bachelor’s degree from Purdue University in 2000 and worked in academic research labs for five years before attending graduate school at Arcadia University where she earned her degree in genetic counseling. After graduate school, Stephany worked both pediatric and cancer clinics for Southern California Kaiser Permanente. Stephany joined Ambry Genetics in the beginning of 2012 and is currently a supervisor of the genetic counselor cancer reporting team.


Founder of Chicago Genetic Consultants, LLC, a private genetic counseling practice.  He has over 15 years of experience with a focus on adult genetics. He is a Clinical Faculty member at the Northwestern University Graduate Program in Genetic Counseling. He has been an active member of NSGC where he has worked on a variety of committees and held positions as the Co-Chair of the Familial Cancer Risk Special Interest Group and Liaison to both the Commission on Cancer and the National Accreditation Program of Breast Centers.

  • Tue, April 3, 2018
  • 11:00am PDT
  • Duration: 1 hour
  • C.E.U. --
  • P.A.C.E. --

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