ONCE UPON A GENE - EPISODE 210

GeneDX - A Genetic Diagnosis Matters with Gay Grossman and Paul Kruszka

If you're passionate about the evolving landscape of genetic testing, this episode is for you. Gay Grossman, Patient Advocacy & Engagement Lead, and Paul Kruszka, Chief Medical Officer, are a wealth of knowledge and bring so much experience, shedding light on the crucial work being done at GeneDX. 

EPISODE HIGHLIGHTS

What is the importance and benefits of genetic testing?

The most obvious benefit is knowing and understanding the why. Also, it's finding other individuals affected so you can get access to resources and support. Families can then come together to move treatment efforts forward. Without a diagnosis, you don't have a plan and you can get ahead of treatment options and treatment potential. 

What are the differences in the genetic panels and tests?

Panels are tests with a limited amount of genes— genes that are known to be associated with the condition you're looking for. Panels are obsolete almost as quickly as they're developed because new genes are associated with diseases and syndromes so often and so much can be missed. The advantage of using broader exome or genome testing is that it's always up-to-date with a higher likelihood of diagnosis. Genome testing is the more comprehensive test.

What is GeneDX doing to educate clinicians and reach families about WES test over a panel?

We have the resources and medical literature that supports using exome and genome testing. We have guidelines from the American College of Medical Genetics, the National Society of Genetic Counselors and The American Epilepsy Society. Everything is in our corner to decrease the diagnostic odyssey, but people are still using lesser testing. We do a lot of implementation science and education to get the message out there through our GeneDX Medical Science Liaison Team. This group goes out and educates clinicians, leads webinars and attends conferences. We also partner with advocacy groups to help test their community and find more patients. 

What is the insurance coverage for testing?

You're a customer of your insurance company, so you can call and ask why something wasn't covered if that's your experience. Request your certificate of benefits— the booklet that tells you what is covered. Read it and highlight what you may need so you are educated about what's covered and what's not and what the requirements are. 

What is your advice for families who have a long wait time for genetic testing?

You need to build your team with multiple clinicians. If you're hitting walls, add someone to your team, like a geneticist or other specialty. A specialist doesn't have to order testing, it can be your primary physician or pediatrician. Ask for support to get testing, access the resources from our website, print them and take them to your appointment and advocate for yourself to get genetic testing. 

LINKS AND RESOURCES MENTIONED

ONCE UPON A GENE - EPISODE 166 - A Focus On Patient Advocacy - Participation In Research and the Importance of an Engaged Patient Advocacy Group with Wendy Kay Chung, MD

https://effieparks.com/podcast/episode-166-a-focus-on-patient-advocacy

Epilepsy Awareness Day at Disney

https://epilepsyawarenessday.org/

GeneDX Website

https://www.genedx.com/

GeneDX Billing Resources

https://www.genedx.com/provider-billing/

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