Genetic testing

Unreal.

Final thing that I love, which I think will pick up speed, will be proper genetic testing.

So Intellex DNA is who you guys use that Lisa's put me through.

A little bit expensive.

Mm-hmm.

So if this was all the information I had, I would be considering Lynch syndrome and would be talking about genetic testing for that.

Okay.

But we actually have a little bit more information, and that's where we bring back to the testing that was performed on your cancer.

And I can go through my logic on that.

Suffice to say, that's what checks out most right now, um, than anything else.

But when we talk about genetic testing, I do wanna talk about testing for other conditions and mutations in other genes as well.

Okay.

And I would say a place where I've really seen multidisciplinary care changing, especially considering my role, is around tumor genetics.

So more and more doing genetic testing of tumors for treatment purposes, but also kind of using that information while we have it to try to identify families with inherited risk factors.

I'm going to ask you more questions about that in a moment because I think it's fascinating.

But Ajay, let me turn to you.

And also some fascinating topics that we're going to get to pull on in a moment.

But because we started with Pam, let's start off with genetics and hereditary risk assessment for a moment.

I wonder if you wouldn't mind just starting by actually distinguishing for us the role of genetic testing from genomic testing and tumor testing and how those two concepts come together and apart in the clinic for our patients with neuroendocrine tumors.

Yeah, that's a great question because it can be confusing for folks.

In this episode, at number one, we are going to discuss long-term stimulant safety, long-term outcomes, common side effects, and how they are typically managed.

Medication holidays, how medication decisions should be made, and why genetic testing is not useful for selecting ADHD medications.

In part two, we'll discuss the different categories of ADHD medications, including methylphenidate versus amphetamine-derived medications, alpha agonists, non-stimulants like Stratera and Kelbury, as well as SSRIs, and why pediatricians and nurse practitioners prescribe many medications today for children with ADHD rather than psychiatrists.

Our goal is not to convince anyone to use medication or not use it.

And then if it is, then we have to have a bigger discussion about that.

So the key takeaway here is that children should always be heard and they should not be expected to carry a medical decision that requires adult foresight and clinical expertise.

So the next one is why genetic testing does not tell us which ADHD medications will work.

Parents are increasingly offered pharmacogenic testing panels.

And, like, that, I saw, like, that in, in the, in the early days, even though it didn't come to fruition.

So then we d- obviously decided to get genetic testing, and I think once again in that room on a morning, think it was, like, a Friday morning in October, we kind of hugged each other and cried when we learned that I had this C9 repeat expansion in the genetic counselor's office.

But it was something that we kind of knew.

But-

And he had brisk reflexes and his head would drag when they pulled him up.

So, Anand, who's amazing, Dr. Anand, ordered genetic testing for him.

So, he had to have a poor thing, couldn't get a site, couldn't get access.

So, he had to go back the second day.

And your story, if I can jump in, because I think one of the other aspects that makes Sharla so incredible to spread just awareness and continue advocating for all aspects in the fertility world is shortly after... she had the loss of her son, her sister-in-law came to live with her and she became a guardian to her sister-in-law who has Huntington's disease.

And Sharla, like, I'm going to let you tell more of that, but genetic testing is a huge part of the world that we live in.

And I know that you've been huge on that too.

Yeah, my husband, obviously his mom passed away his freshman year of high school of Huntington's disease.

And, you know, obviously my, my husband and I, we still got stood up and like we became her, I became her guardian.

Um, my husband supported me and, um, she actually just lost her life this past June, June 7th.

Um, yeah of Huntington's at 40 years old so it was definitely a long journey and we she experienced getting pregnant with Garrison my now youngest I'm almost five starting school next week like what the heck um and so she experienced all that you know delivery at birth all that stuff she lived with us she moved in for a while and then we had to ultimately put her in a facility that because her care became too much for us but um still really it's huge to advocate the fact that genetic testing is a thing and if i would have known or been more educated on at a younger age i probably would have went straight to ivf to have my kids and i'm happy with the boys I have now, my children now, and I will figure it out.

I think that at the end of the day, you know, there's testing out there that can help prevent that heartache and that, that frustration and, you know, all the things that comes with it.