I have a consult scheduled with a new doctor (on the ACOR CLL Expert list) who asked me if I were interested in genomic sequencing of my CLL, which is routine for new patients. It seems obvious to tell him yes but not so obvious as to why. Can anyone remind me of the benefits of this type of testing?
Thanks
(mutated) Gene
**Updated**
Probably the major benefit of you having whole genome sequencing done will come from your results aiding our understanding the future prospects of others with similar genome errors with regard to the risk of developing CLL.
This testing can also be expensive - see the comments on cost below, so anyone contemplating having this done should carefully check what their out of pocket expenses will be. Also, per the Wikipedia article referenced by Chris below, the cost of completing whole genome sequencing is falling at an unprecedented rate for a new technology, so costs are expected to continue to fall noticeably - with some suggestions it may be cheap enough to use as a GP doctor's standard tool in the not too distant future.
Per the Wikipedia article : "In principle, full genome sequencing can provide raw data on all six billion nucleotides in an individual's DNA. However, it does not provide an analysis of what that information means or how it might be utilized in various clinical applications, such as in medicine to help prevent disease. Work toward that goal is continuously moving forward." It was thought that the process of determining what errors in the DNA structure led to which genetic disease susceptibilities would be far more easily determinable than has been the case. A significant reason for this was the discovery that there are less genes than expected in the human genome, with our body's complexity achieved through the clever reuse of nucleotide sequences by changing how sequences are read, i.e. code reuse for different purposes. See the Wikipedia article on Epigenetics: en.wikipedia.org/wiki/Epige... Also a significant proportion of our genome once considered to be non-coding or colloquially 'Junk DNA', i.e. DNA without a known purpose, has now been found to be used. The different ideas regarding its importance reflect on the challenges of understanding how errors in our genome influence our development and the potential development of diseases with a genetic factor.
Neil
**My first reply incorrectly assumed more traditional testing for prognostic factors, not capturing of a patient's complete genome to build a database of CLL patients for future database mining with the hope of identifying genome errors that may predispose the patient to develop CLL. Thanks go to Chris/Cllcanada for identifying my mistake per his reply below.
After your first paragraph I began to conclude that the "good" part was what you mention in your last paragraph - it's good for the scientists and so then ultimately for the community - to which I say "good enough".
Good on ya, mate
Hooroo, Gene
[PS as in the past I look for your cultural approval when it comes to a North American using one of the dozen or so Australian idioms that has traveled the 10,000 miles needed to break through into my consciousness - 'good on ya, mate' - when communicating with an Australian citizen….. Does it make me sound cool, pathetic, or like an ugly American?]
I'll give you a cool rating 
Good on me!
****************
BTW, this is the 2nd opinion appointment I mentioned to you in my private email to you a few months back. Another BTW is that the 1.5 ANC on my November test which caused my current doc to predict 2016 as the year I'd need to start treatment went up to 3.6 in January and 4.5 last week - the exact range - 3.6 to 4.5 - it had been over the past 3 years.
With no CLL symptoms and no illness at the time of the 1.5 test result, my original guess that the manual count was off due to clinician error seems as good an explanation as any (manually count 1,500,000,000 cells & you're bound to lose count).
So next time I see this doctor I'm going to remind him about his prognostication for 2016 and then say, "Wrongo Chemo-Sabe, perhaps a bit tonto of you"? … though being originally from India he might not get this "Lone Ranger" reference (even though Tonto himself was an Indian which is further confused because tonto is a Spanish noun meaning fool or adjective for dumb; while Kemosabe is loosely translated from Spanish is 'he who doesn't know' (as I said, those 50's were quite the politically incorrect times).
I get it. Great sense of humor. We all need some of that!! Carole
Just make sure it will be paid for by your insurance. I have a friend with ovarian cancer and, after her surgery, the hospital sent her tumor cells out for sequencing. Her insurance has refused to pay for it (close to $50k in her case) because there is no medical evidence that the genetic information gleaned from the sequencing would influence the selection of her frontline treatment.
I have to second that answer. I forget the exact US dollar price -- but it was substantial and I did end up eating a significant hunk of the cost. I do believe that I should have been told the cost up-front -- which was NOT done.
I have to agree with LeoraH & Neil. I received a bill of $33,000 for my FISH test. Fortunately, the insurance did cover it.
When I talk with my hematologist/oncologist about the cost. He was also surprised. They did 75 separate chromosone tests. 'Something' must have triggered the extra tests. But the analysis report was only on 13q deletion.
When I mentioned the cost to my primary, she said that's probably the negotiated cost and HALF of what was originally charged.
I can understand AussieNeil's frustration, and one of the things that has been most eye opening to me is how lousy our insurance systems are. I no longer take for granted having access to good insurance. But speaking to the point of your post, if I didn't have access to genomic sequencing, I'd be off to FCR chemo and statistically, I'd dead before 50 because I have the dreaded 17p deletion among other things. I have a 16 year old, and I am glad that I have a fighting chance to extend my runway thanks to the availability of this type of testing. You are most likely not in the high risk CLL pool, but you never know, so if you have access to the testing and you are insured, I'd recommend do it and figure out how to pay for the co-pay.
I think there is some confusion in this thread...
Yes FISH panel is a genetic test using probes often 6 or 8 these days. Other tests use PCR or Sager
Genome sequencing either whole genomes, WGS or exome, looks at every gene not just a few chosen ones... like FISH
Currently the reason for doing this is primarily to build a CLL genetics database, to better comprehend the complexities of this cancer, which as of this moment are poorly understood.
People should use Wikipedia more it is surprising good these days on many topics
en.m.wikipedia.org/wiki/Who...
~chris
yes, it is a bit confusing, semantically. I was thinking genetic testing at first, not genomic testing (sequencing). As Neil says it is probably something the research hospital, Moffitt in Tampa, is doing to advance their understanding of the disease. On the insurance front, maybe I'll find that Moffitt has a grant to pay for this and it is free for all (and perhaps because of that it's a free-for-all too).
The way the doctor asked me using the word 'routine' (he wrote, "though you're not a new patient you can get this done as it's now routine for all new patients) makes me think it's more likely not a financial burden for most or any patients. Otherwise I would think he would have added a caveat like, "by the way, it's also routine for insurance companies not to cover this at all so it'll probably cost you $40,000 to $50,000 out-of-pocket.. what do ya say… should I put you down for the deluxe service?"
Gene
The physician is the expert? and you are the patient. For any of these procedures, best to talk to the billing department as well. Carole
lol back at you. For my current doctor I'd use the word expert very loosely. However, the doctor I will be going to for the first time next week is one who actually is a CLL Expert as listed on the ACOR listserv.
Perhaps billing can refund a portion of the past bill given the less than stellar test interpretation. I'll look into this to check if the center has a "100% satisfaction or money back" guarantee policy. (If some money is coming to me, I'll send you a 15% finder's fee)
Gene
Hi Gene,
Like you, I immediately thought genetic testing, not genome sequencing, when I answered your post. Your statement that it was 'routine for new patients', put me on that track. So my answer needs editing to remove the confusion along (with your permission) a title change. I suggest 'DNA testing, FISH and genome sequencing'.
My final statement still stands; you'll likely be helping others more than yourself with testing done well before any treatment you may need in the future, which is hopefully a long time off if ever.
What testing were you actually offered? Given the cost warning from other members, do find out the cost first!
Thanks,
Neil
Do whatever you think is appropriate.
****
Here is the question on the email the doctor sent me and my answer:
Dr Pinilla asks: Last are you interested in genomic sequencing of your CLL? We are now doing as routine in new patients
Gene Mitchell answers: I believe this research would benefit the research community and ultimately the CLL patient community as much or more than it might benefit me. But even if it didn't uncover anything of value for me, to have it of value for your research and for others in the future would make it valuable enough for me to have done.
However, my only concern is that my insurance wouldn't cover it and it would cost me extra hundreds of dollars (or could it be thousands extra?). I'd have to make sure the cost was minimal.
Gene
I've now updated my initial reply to cover only genomic sequencing, not prognostic testing.
I hope you can afford the cost and that you'll hear of some good work resulting from 'donating' your genome read-out to CLL research .
Neil
**Abridged version of this message
I will happily take the test but first need to find out to what extent my insurance company will cover it and that will be very hard to do given my past attempts to contact them from which I've developed the condition of contact-corpophobia - the fear of calling up a huge bureaucracy & spending an inordinate amount of time in attempts to get information only to come away empty from one's efforts except for the anxiety & trauma (guess while I'm at it I should try to find out if my insurance covers the counseling needed to deal with the phobia).
I will also mention (translate as I will waste a bit more of your time) by telling you that this condition resulted from my 3 month attempt to appeal a misguided prescription denial & culminated this week in a 5 hour phone marathon in which I never even got to talk with a person in the right department. This left me a broken, whimpering under the covers in a fetal position, so that now I can't seem to get myself to dial (do we say "push" yet) that number again.
Phew… feel better having shared and admitting that my health insurance is making me sick! I must attempt to utilize Brian Koffman's sign-off mantra, "stay strong", to see me through.
** Abridged version - I want to first find out how much the test will cost, but It's hard to get through to my insurance company.
I agree and would emphasize that clarification. EVERYONE should have FISH.
The genomic sequencing is something else.
Not outside the U.S. the clinical protocols are 'if required' for FISH to separate out 17p- prior to treatment, it is pretty much up to the doctor.
Genomic sequencing is still mostly a research tool, but may reveal some newer indicators that FISH misses. How it influences clinical decisions is much less clear.
Yes, thanks. This will take place at the H. Lee Moffitt Cancer Center and Research Institute (in this case, emphasis on the institution in which research is done). If insurance covers it I'll have it done as the results will be useful to Dr. Pinilla, a CLL Expert, myself, or both.
Dr. Pinilla is an excellent choice as a CLL doctor. The CLL Society is setting up a support and education group at Moffitt. Check out the banner on cllsociety.org for our survey to assess the level of interest.
My husband has been under Dr Pinilla's care since 2011. He has been excellent and is always proactive and listens to the patient.
Great to hear it. I am not surprised to hear the positive review. If you are interested in out CLL support group at Moffitt, let me know or check out the banner on our website: to cllsociety.org
Hi Doc,
Good to see you here. I always appreciate your knowledge. However, my experience with Dr Pinnela were mixed.
You see him in the beginning and then before treatment. Otherwise, you speak to his PA. Now she is very knowledgeable but she is of course not him. My problem was he was not very accessible.
My current CLL doc did say he did a phenomenal work up on me, however.
Jeff
Not to be an apologist, that is a problem with many of the tier one CLL doctors. There are too busy and very often on the road.
Thanks Dr. K & Jeff
I'll have to bring this up at my initial consult. It could wind up being the deciding factor whether I switch doctors, especially if it winds up I'm traveling an extra couple of hours NOT to see him. I'm currently being seen at UF Health Cancer Ctr @ Orlando Health which 2 yrs. ago was MD Anderson, Orlando, so there's some good expertise in that building. But there are reasons beyond finding a "CLL Expert" why I may want someone new (and actually have wanted another doctor since Dx in 2012).
Gene
Gene,
I felt I was lost in the shuffle at Moffit. They are so big and had much sicker people to tend to.
The name of the game is really clinical trial availability. Moffit had none to offer me amazingly.
I found a clinical trial close to home with a CLL doc who is incredibly intelligent, always available in a smaller hospital.
I can only compare it to like a cruise ship. The biggest ships don't have enough staff compared to a midsize ship.
I traveled to Moffit and Sylvester Cancer center before finding Dr Alvero Alencar at Memorial Hospital in Hollywood Florida. He gave me his email address in the beginning of treatment and while getting sick I emailed him on the weekend. It seems I always get sick on a Friday night. 🤒😷😩
He was on vacation in Brazil it turns out. Yet he still emailed me back in 10 minutes. That is priceless. I love this Doctor. He is up to date with all the treatments as he was a principal investigator on the clinical trial I chose.
He has followed me at hospitals he doesn't have privileges at. I feel like he's always ready to help
I am very lucky to call him my Doc. Choose wisely.
Jeff
I've been lucky that it's been 5 yrs since Dx and I still feel good. I've always been poised to "jump ship" (but not on to a undermanned cruise ship) because my original doctor was not ideal. When he confidently predicted I would start treatment in 2016 (for a bogus reason) I decided to look for alternatives. The reason he cited was a sudden drop in neutrophils which for years had been around 4 to 4.5 and in November was 1.5.
I couldn't explain that number but I also couldn't explain the doctor playing Kreskin based on that. I had no CLL symptoms, my ALC has been just inching up and my nodes have been just millimetering up. Pretty stable. Add to that he's previously told me my treatment WILL be FCR and I would like to discuss alternatives especially now that they exist.
Anyway 2 more blood tests since and my numbers are very stable with my ANC jumping back up to 4.5… so now I've gone from not feeling compatible with him to not trusting him.
But now that my numbers are back to where they were a year ago, I feel no pressure to change doctors immediately. The precipitating event for me to make that move was always going to be when I saw myself nearing treatment. So I'll get a 2nd opinion consult from Pinilla, but don't feel the need to make any commitment any time soon…. at least not in 2016.
Thanks for the reports of your first hand experience. Being in Orlando I wouldn't really think about traveling to Hollywood, but your time at Moffitt gives me pause about making the move there. I'll check it out and then figure it out. Glad to hear that all has worked out so well for you.
Gene
I am the IT guy that set up the Next Generation sequencing high performance computer with MD Anderson. I have also been diagnosed with CLL. It is important to help others with this disease to understand what biomarkers effect treatment longevity excetera
Nice swissnology. I had the MD Anderson genetic panel. The cost they billed insurance was very reasonable. Nothing like the large numbers mentioned above.
That's good to hear I've been wondering what it's going to cost me there online colleges visit at Yale was $800 ent was a grand
Thanks
Here's an example of what we'll eventually be able to achieve with genomic sequencing:
gizmag.com/impact-matches-c...
Moffitt & Dr. Pinilla will be my go-to "expert" when I start getting closer to needing treatment. I saw him yesterday (and per Jeff also his NP, who I thought was great and who explained their tag-team approach which I felt very comfortable with) and we made up that I'd continue to monitor disease at UF Cancer Ctr @ Orlando Health & go to Tampa once a year until "it's time"
But right now all the concern from back in November is on the back burner as my numbers are still relatively stable and my nodes & CLL symptoms are relatively miniscule.
Thanks for all your support during this time
Hooroo
Gene
oh … I forgot to include the part about genomic sequencing.
So I will get that done in the future too (probably a year from now when I go to Moffitt)
Gene
Newly Diagnosed CLL, Anxious and scared
IGVH Hypermutation test.
Lookibg for CLL SPECIALIST
Newly Diagnosed Age 49
Why is CLL mainly a disease of older people?
