I am a 69-year-old female and was diagnosed with polycythemia vera in November 2023. I have been taking hydroxyurea since the middle of November it has helped my numbers and my symptoms. I am seeing a very reputable oncologist/hematologist - there are no MPN specialist in my area. I am JAK-2 positive & I have had a bone marrow biopsy, however, my doctor has not ordered a JAK-2 allele frequency test. I asked him about it and he seemed to feel that it was not very helpful or conclusive. He offered that he is in touch with colleagues who are MPN specialists and that he would reach out to them and get their input, which I appreciate. I see him on February 5. I am looking for your thoughts on the need to know my JAK-2 allele frequency/burden so I can have a constructive conversation with him.
JAK2 Allele Frequency/Burden: I am a 69-year-old... - MPN Voice
JAK2 Allele Frequency/Burden
You will hear different opinions. I feel JAK2 VAF is a valid biomarker to monitor MPN status. My MPN care team agrees. We monitor VAF on an annual basis. Not all agree. I think the posted question by Dr. Kiladjian, a leading MPN expert, sums it up nicely.
"Please experts, help me... are there hematological malignancies where reducing the driver mutation is not clinically beneficial? I'm confused, this is disputed for PV and JAK2 mutation, so finding another example could be helpful... I can also take examples in solid tumors..."
The recent article by Dr. Moliterno et al is one of the better summaries regarding VAF. ashpublications.org/blood/a...
There is no risk or downside to monitoring your VAF. There is no reason not to follow VAF is you wish to. It is true that not all agree and that not all hematologists know what to do with this information; however, it is your prerogative to consider VAF if you believe that it is in your best interests. It is up to you to decide what treatment endpoints and biomarkers you wish to use.
Note that it is important to compare apples to apples, Whichever JAK2 Quantitative Analysis you use, be sure to use the same measure for comparison.
Wishing you all the best moving forward.
Thank you.
I've been told that this is a very expensive test. And in some cases insurance may not cover it.
So the patient could be stuck with a very large bill.
That certainly is a reason to think twice about it..
My insurance has paid it every time without question. Note that I have Medicare A/B primary and a secondary insurance provided by my former employer.
Cost of the test varies based on which test is ordered. There is more than one type of JAK2 Quantitative Analysis.
Molecular testing has revolutionized the diagnosis of polycythemia vera, but is associated with substantial costs, ranging from about $350 for JAK2 V617F targeted assays (e.g., qPCR) to $1000 for screening assays by NGS panel. ncbi.nlm.nih.gov/pmc/articl....
It is relatively straightforward to find out in advance if it will be covered by Medicare or insurance. Note that each plan varies.
I have medicare and a medex supplemental that will pay the 20%
that medicare doesn't pay. However my doc who is an mpn specialist at a major hospital has warned me many times that she will order the test if I insist.
But it may NOT be covered and it's a big bill.
Your's may be covered because you're on inteferon,
Medicare can work in mysterious ways.
Medicare can be a challenge to figure out. My Standard Medicare A/B did cover the JAK2 Quantitative Analysis. SUggest you contact Medicare and inquire directly.
I also have Medicare and a supplement. I will call and find out if the test is covered. Thank you for your input
Hi,
Here's another data point.
When I first being diagnosed for MPN (high PLT), the Dr ran the serious of
molecular/genetic tests. And of course it cam back Jak2+. A couple of months
later, I got the notice from Medicare claim denied (Medicare does not cover molecular testing). It was pretty large charge. I never paid it, I'm assuming the hospital ate the charge.
Let us know what you find.
Thanks
Note that the denial can be appealed. The hospital may have done this in the background without you knowing. One of the issues that comes up is how the bill is coded when submitted. As you can see from this guidance from CMS, it can be complicated. cms.gov/medicare-coverage-d... If the documentation is not precisely correct, then it will not be paid.
Medicare did pay for all the JAK2 Quantitative Analysis we have submitted we submitted. Note that I have Traditional Medicare. Some of the other types of plans may deny coverage offered by this form of Medicare.
You also have the option to file your own appeal. Sometimes the patient has avenues for appeal that providers do not. In the world of insurance and Medicare, NO does not always mean NO. It just means you need to work harder.
Wishing you success moving forward.
"NO does not always mean NO. It just means you need to work harder."
Good luck with that when it comes to medicare.
Medicare can be a challenge at times. It is unfortunate that the definition of "Medically Necessary" can be so arbitrary and capricious. Even for services that are covered, accessing the service is a different matter.
One of the biggest challenges has been Medicare Part D, prescription coverage. I had quite the battle initially getting Besremi approved when it had just received the FDA label. It took a lot of work, but I prevailed.
We have to be our own best advocates.
Thank you.
I'm not a doctor, but in my view a priority of a 69 year old PV patient, besides avoiding blood clots, should be to try and avoid disease progression to post PV myelofibrosis because only a small % of 70+ year olds qualify for the only potentially curative option available - a stem cell transplant.
Two different large retrospective studies have have found that the drug Pegasys interferon can usually substantially slow or prevent progression whereas other treatments only relieve symptoms. If your doctor lacks prescribing experience with Pegasys he/she may not offer it to you or even mention it.
Study #1: In a retrospective study of 348 young adults (age < 25) with ET & PV, who were followed for up to 20 years, none of those who received interferon as a first line treatment progressed to myelofibosis whereas 25% of those who used other treatments did progress within that 20 year period: ash.confex.com/ash/2023/web...
Study #2: The Silver MPN Center in New York City treated 470 middle to older aged PV patients over a 30 year period and this is how their outcomes differed depending on their treatment: 20 years after diagnosis:
95% of PV patients who had been treated with interferon were still alive and 15% of them had progressed to post PV myelofibrosis
63% of PV patients who had been treated with hydroxyurea were still alive and 41% of them had progressed to post PV myelofibrosis. Source: tinyurl.com/544sybph
This post is a bit misleading, when you say other treatments to Inf only relieve symptoms, this isn’t correct, Rux has been shown to reduce allele burden and overall survival (Clair Harrison 2023) , my BMB after 6 years on Rux according to analysis at Mount Sinai by expert shows no MPN detected. The second study you mention by silver is a misleading report because again according to my expert at Mount Sinai the patients on Interferon were low risk and those on HU were high risk, hardly a fair comparison. You say that “Interferon can usually substantially slow or prevent progression”. That’s simply not correct, there is a possibility that Inf might slow progression for a small minority, that’s all.
Interferon is likely the best drug we have currently in terms of possible disease modification for a subset assuming it can be tolerated, it would likely be my drug of choice if I could tolerate it but let’s keep it real about what it can and can’t do.
You wrote: “there is a possibility that interferon might slow progression for a small minority, that’s all.”
But the authors of Study#1 wrote: “importantly our data demonstrate that interferon specifically compared to other cytoreductive agents yields significantly better Myelofibrosis Free Survival compared to other treatments;” i.e. 100% MFS within a 20 year treatment period vs 75% for the other treatments.
And the authors of Study#2 wrote in the title of their peer-reviewed medical journal article:
Thank you. I agree that preventing blood clots and stopping progression are my two major goals. I was unaware but it is not surprising, that older adults are not candidates for transplant. I certainly would prefer to prevent getting to that stage.
I had to push for mine but they did do it for me and hopefully will get test done again in a year. I am hoping to use the results to see if allele burden swaying up or down as a marker of how meds are working
my view is it is useful to get a baseline allele burden and a NGS and a BMB, that way you can monitor progress etc
Hi Flannel PJ, When I was in your shoes in late 2022, and had no MPN specialists or medical schools within easy reach, I got a video appointment at the Mayo Clinic with a specialist. I talked out all my questions and got information verified/seconded. He sent recommendations, etc. to my doctor, and that helped pave the way to assorted tests and to the medicine I ultimately chose. Again by video, I checked in with the Mayo doc a half year later with more questions. It is one way of extending your team. Best of luck to you!
Thank you. Is it difficult to get a video consultation scheduled? I called one doctor about this and, his nurse or receptionist told me that the first appointment always has to be face-to-face. I have waited to proceed further with this quest until after my next appointment with my doctor.
my understanding is that almost everyone was willing to do video visits during Covid but that many places stopped doing it once Covid wasn’t as much of an issue and things were open again. I tried calling Stanford in California, and was told that no places in California would do video visits without an initial in person visit. I also would love to hear of any places that will except a video visit for the initial and follow up sessions.
You may wish to try Memorial-Sloan Kettering (MSK). I do all my visits with my MPN specialist via video. I've never been face-to-face with him and it's worked out just fine.
Thank you so much I will look into it
Thank you!
I don't know if the Mayo moved away from video consultations. Perhaps others who have had them elsewhere can chime in. I simply called the Mayo and the staff were very efficient in locating a specialist and scheduling.
Thank you. I appreciate the information.
Allele Burden -- Polycythemia Vera
Good news re allele burden
Pegasys not working to lower Allele burden
Rechecking JAK2 V617F Allele Burden
Allele fraction and Medicare
