Webinar Series Episode 11

I Have a Genetic Mutation, Now What?
special thanks to progenics for making this webinar series possible through an educational grant.

The information presented on this webinar is for educational purposes only and should not substitute the advice of your doctor(s) and medical team because they have in-depth knowledge of your medical history and current situation.

Download slides here.

See list of questions and video timing below.


  1. 33:40 Can you provide important points to emphasize, when explaining the genetic mutation SDHB of pheo/para to one’s family that keep the facts and risks in perspective?
  2. 36:00 What is difference between SDH mutation versus RET C634 mutation? It was explained to me that my pheo is the result of this mutation and related MEN 2A diagnosis.
  3. 39:24 Is there a way to do genetic testing anonymously so it’s not on my permanent EMR?
  4. 42:10 If someone was tested years ago shown to have no genetic mutation, should they get tested again?
  5. 44:36 I have a 5-year-old just diagnosed with SDHB. Your slide suggested screening starting between age 6-8. I’m confused about whether that means I should start at age 6 or…?
  6. 47:10 I face challenges in connecting patients to resources, for imaging and support. My local hospital does not have protocols for screening patients. If I have no local resources, how do you suggest I start?
  7.  49:23 I was tested 4yrs ago after my brother had a para, 3 out of 4 of us siblings have SDHB. Would you recommend cousins to be tested even if their parents haven’t been?
  8. 51:14 How do I convince my siblings to be tested?
  9. 52:48 If I have an FH mutation of unknown significance.  The genetic counselor said there is no action to take but I keep hearing otherwise
  10. 54:50 If I have already been diagnosed with pheo and I have a genetic mutation, does that mean there’s a higher chance for the tumor to recur? If it recurs, does having a genetic mutation mean higher chance it will metastasize?
  11. 56:59 Any suggestions on how to handle, who to speak to, regarding a family member who’s did metastasized.  We’re not getting the best care for him or return calls to assist.  Any suggestions.