I thought that monitoring our JAK2 allele burden was a way of identifying potential disease progression so asked my Haematologist at my last consultation in Dec ‘22 if this was being done but was told that they (presumably the Health Board) didn’t have the funding for this. I got the feeling this could be done but they weren’t bothering to do it and so the excuse of not having the funding was an easy answer to give.
I am in the UK (Scottish Borders) and wonder if anyone else does have their JAK2 allele burden regularly monitored as part of their routine monitoring? I would be interested to know if you do and which Health Board you are under.
Many thanks for any replies in advance and for the daily posts, which I read every morning. As a newish member of this special club, I have learnt a lot from your input and am most grateful for the support.
David
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I doubt if any of the Scottish or UK health boards do it routinely, it would be interesting to hear if anyone has had it done on request, I would like to get mine tested but suspect NHS Lothian will not be over keen.
I am in Hertfordshire/London area and enquired about this on my last consultation with nurse who is looking into it. I will be following up on next consultation in feb. I feel this is important to get a guideline as to which way body is responding to treatment. Looking forward to hearing anyone else’s answers on this and thanks for raising the issue
You're right that monitoring allele is worthy. But it's still a novel idea for many practitioners. This thread is on that point, Dr. Harrison is proposing monitoring at least for some.
Maybe your health board would benefit seeing this presentation from Dr. Harrison.
I'm in the US to the procedures are different. But I seem to be on the path to have allele readings every 6 months. Since I'm on Besremi IFN we're looking for reductions, which I have had some so far. This recently recognized possibility of reductions is one reason for the new interest in monitoring.
Correct, there are a handful of names for how mutated we are. Variant allelic frequency (VAF) Mutant allele burden (MAB) alleleic burden (AB) ...
These terms are used for near every type of mutation found in blood or marrow as I recently discovered.
Jak2 mutation was found just in 2005, and the ability to reduce it was widely known starting only about the time this thread was 1st posted. We now know IFN and Rux can reduce Jak2 and that reducing it is useful. So the test you got is only recently routine in most practices.
If you have access you should also get tested for the various other mutations that can come with MPNs, known a nexgen (NGS) testing.
Hi, I am in South Wales and having had two BMB I asked my consultant about my allele burden . He said it wasn't routinely done and would involve my results going to Southampton hospital. He said that he suspected mine would be high and he believed that in the future he thought the allele burden would become part of our tests .
Hi, I am at Guy’s Hospital with Prof Harrison’s team. I had my first allele burden test in Sep 22 at my request (three years after diagnosis) . It coincided with starting Pegasys and I asked to have the AB checked again after one year and the haematologist suggested six months. It is clearly not a routine test but it can be done.
Your timing for the allele test is good, one reason this test is becoming more common is to check for reductions on IFN therapy. My Hem also seems to be going with 6 months. But it should be standard for anyone starting IFN.
I am 81 years old and was diagnosed with PRV and + JAK 2 V 617F 59 o/o in July 2016 and have been taking hydroxcabamide since [currently 11/ 500mg per week]I live in North Yorkshire and about a year ago asked my haematologist what was my current AB but was told it was not relevant and in any event was expensive to test.I would love to know what my current AB is.
"Not relevant" is now out of date. It is certainly relevant lately. The only question these days is in what particular way for each of us. We will esp want to have it for future reference as ways to do something about it are increasing.
I was diagnosed at the start of 2022 with JAK2 blood test & will be starting Pegasus in Feb. My consultant has requested the usual bloods & another JAK2 blood test prior to my next appt and the first Pegasus dose, I assume to monitor the AB but tbh I didn’t ask why, just assumed it was process annually (I’m Herefordshire)
While there is still debate about the value and significance of the JAk2 allele burden, the emerging consensus is that it does matter. It is not routinely done in most places at this point in time. Perhaps at some point it will be, particularly as the cost of the testing drops.
Things are bit different here in the States. With my health insurance, we can check the allele burden whenever there is a reason to do so. The plan with my MPN Specialist has been to check it whenever there is a change in disease status. We checked when I started on the interferons and then 18 months later. We found that my allele burden had dropped from 38% to 9%. It was definitely worth checking.
It may matter whether you are seeing a MPN Specialist or a regular hematologist. A MPN Specialist is more likely to be up-to-date on the thinking regarding allele burden and more likely to advocate for it. Also note that assertive patients receive higher quality care. Passive patients do not.
Suggest having a discussion with a MPN Specialist about the value of a JAK2 quantitative analysis for your case at this point in time.
I am under Guys, had jak2 at start of PV journey Apr 22, have been reluctant to start Pegysus as generally well with itching being main issue for me at my last visit in Dec saw Professor Harrison explained being hesitant due yo side effects but said did not want to put myself at risk either, she suggested another jak2 at next appt to see if it has gone up if it has said would think about starting meds, my GP would not entertain doing a jak2 at my request prior to heam referral due to cost
I was diagnosed with PV in 2016 and did not have an allele burden test. I started on hydroxy. I started having 6 monthly LDH checks 2 years ago, which I understand can be a means checking for progression. As I am weighing up whether or not to switch to interferon from hydroxy, I asked for an allele burden test -it's not something which is done at my local hospital, but it was arranged. I thought I would ask for this from time to time to see if there is any movement. (So far the LDH hasn't moved much) With the latest emerging research, it does seem that the allele burden could be a measure of the efficacy of the medication.
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