Friday Jul 12, 2024

#297 Exome Reanalysis with Ambry Genetics

In this episode, we are exploring Ambry Genetics' groundbreaking “Patient for Life” proactive exome reanalysis program. This unique initiative offers lifetime support to patients with rare and undiagnosed conditions, continuously updating their exome testing findings as new scientific discoveries are made.

 

Joining us are two distinguished experts from Ambry Genetics who will shed light on this innovative program and its impact on patient care. Dr. Elizabeth Chao is a board-certified geneticist and the Chief Medical Officer at Ambry Genetics and alongside her is Kelly Hagman, the Vice President of Medical Affairs and a seasoned Genetic Counselor.

 

On This Episode We Discuss:

  • Ambry Genetics' Patient for Life program offers lifetime support to patients with rare and undiagnosed conditions, continuously updating exome testing findings to improve patient care.
  • The program addresses disparities in genetic testing by reducing the impact of underrepresentation of non-European ancestries in variant classification and lowering the dependency on provider-initiated requests 
  • Provider-initiated reanalysis and the potential impact on therapeutics are important considerations in the context of genetic testing and patient care.

 

Resources about Patient for Life:
Webpage

White paper

Interview with a GC customer who has had patients impacted by the program (blog)

 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 295 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

 

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