Common genomic diagnostic tests

[hunter5582]

Another from our friends at MPN Hub. Not a lot of detail, but a very nice outline of the types of genetic tests available.

mpn-hub.com/medical-informa...

[SoledadBarcelona]

Talking about gene test. I am writing to ask for information about some papers in Besremi gene test to MPN patients. When do we test the genes on Ropeginterferon alpha 2b? Do you know anything about these publications? Researches? Etc. Thanks

[hunter5582 in reply to SoledadBarcelona]

I am not familiar with what gene tests your are referring to. Are you talking about the genomic profile of people who respond well to ropeg?

[SoledadBarcelona in reply to hunter5582]

No. I am talking about some recomendations for people on Besremi when to test the genes: only VAF of JAK2 or maybe the whole panel because there are people on Besremi with more than one gene affected. I know when the MPN experts recommended to do it, but I would like to read about this issue in some papers what I dont find. FharmaEssentia dosent know too.

[hunter5582]

Understood. Rechecking the JAK2 VAF periodically is a good idea. It is important to compare apples to apples when rechecking VAF. Different techniques can yield different results. Checking the broader array of driver and non-driver mutations can also be useful.

Here are a few of the resources I have used.

frontiersin.org/articles/10...

researchgate.net/publicatio...

labcorp.com/tests/451953/in...

[SoledadBarcelona in reply to hunter5582]

Hunter5582, I am talking about post Besremi traitment. Nothing I can read about this. My hospital says that nothis is publucated to test genes on Besremi. I want to discuss this point but I dont find any research, publication or something. Two years without test.

[hunter5582 in reply to SoledadBarcelona]

From published studies.

"The median JAK2V617F allele burden declined continuously during ropeginterferon alfa-2b treatment, from 37.3% at baseline (before treatment in PROUD-PV) to 8.5% at 60 months." nature.com/articles/s41375-...

Reduction in VAF

[saltmarsh]

Hunter. I have a huge request. A few days ago you posted a list of discussion items for meeting with a doctor. It was exceptional but I can't find it. Any chance you could post it again as I have an appt with a new gastro and I want to be totally prepared. Thanks, Saltmarsh

[hunter5582 in reply to saltmarsh]

Treatment goals:

Define for your doctor what your priorities are. Can be very specific at times.

Treatment Approach

Define what your approach to treatment will be. Make this specific to your treatment preferences. ALWAYs tell your providers all the interventions you use

Updates/Issues/Questions

Write out the symptoms and issues you are having and a list of your questions. Always include a holistic review of what is going on, particularly with specialists. Only give updates/changes to an existing provider. Do focus on what is relevant for this appointment

Treatment

Review all treatment options – let the doc know what you are doing now and seek input on what else to do next. Ask about ALL options, not just the one the doc recommends. Ask the doc to explain why the recommended option is better than other choices. Ensure that it is your goals and preferences that drive the decision about your treatment. This includes your own risk tolerance and what risks you prefer to take.

[saltmarsh in reply to hunter5582]

Thanks. Have a great day

[dmiller1961]

Hunter-thank you for that information. I was looking to find out whether Lab Corp performs NGS genomic testing & your link shows that it does. Do you happen to know which test Lab Corp uses to test VAF for Jak2?

[hunter5582]

That depends on whether you want a PCR, NGS or some other genetic test. They do the JAK2 V617F Mutation Analysis by Real-time PCR and the Intelligen Myeloid Panel, both of which I have had done.

Here is the list

labcorp.com/tests/481020/i-...