DNA Testing-Cytogenics ?

[Chris Ballmer]

I’m about 4 months into an MDS low-risk diagnosis. Is there any benefit to finding separate vendors who will test my DNA specifically for diseases, family genetics, and specifically MDS-related details? Or, does it help to pursue this with my doctor and health plan provider. I know it can’t hurt to be as proactive, but DNA testing isn’t cheap and not exactly sure how beneficial it would be… but if it’s not covered by health care plan, it may be cost prohibitive? Sorry if there is a thread about this somewhere?

[Sherry Pratt]

Chris, in my experience with MDS and a stem cell transplant, the disease is not understood to be genetic. However
I did do some genetic testing with my
Doctors and the Cancer Treatment Center of America to search for certain genetics associated with the disease itself. And if you progress to a stem cell transplant your DNA will become that of your donor (mostly) so it would be a waste of money to do that now.

[Chris Ballmer]

Thanks Sherry. Did knowing more about your DNA help in your case? Makes sense about wiping out the DNA with a transplant. I would do anything, however, if it gave more insight into how to treat, cure.

In your experience, does using an outside “Center of Excellence” help, and how are they covered or not by insurance, if my primary service (Kaiser Permanente) is already caring for me.

Chris

[Donna]

Hi Chris……….I started with one MD at a Center for Excellence and then went to another Center for Excellence for a 2nd opinion. I’m lucky that there are two hospitals considered Centers for Excellence within an hour from home. I had the expensive genetic blood testing that my insurance did not cover but the hospital did cover it. I did not have to pay for it. It showed 4 mutations that I believe are markers of importance for MDS. I am considered pre-MDS because my bone marrow biopsy said I do not have full MDS but that it is evolving into MDS or another type of blood cancer. My doctor said I will start treatment with probably Dacogen when my platelets go down to 50,000. They were 67,000 last check. These mutations are ones we pick up during our lifetime…..not like family genetics. I don’t know if this information is any help to you, but I wish you well. I have been watch and followed with blood work for several years and the MDS talk just started about a year ago. Donna

[Malissa Kirszenbaum]

Hi Donna. Looks my husband is similar to you in this journey. They are not able to identify origin of anemia after running all the obvious tests, including organs. He has always been anemic, mildly, but now it appears his WBC is a bit below the lowest normal. We go next week for 2nd round of blood tests before meeting with his hematologist/oncologist on the 17th. His doctor said that should his counts dip lower they may want to do another BMB. Our plan is to go to a care for excellence at Johns Hopkins for a solid 1st opinion. He is a pharmacist and works long hours. On his days off, he is so tired and really paces himself. He is only 61. I have noticed a huge change in energy levels over the last two years. Pre-MDS was discussed. I am going to inquire about the genetic testing as it was not clear whether this was included in the cytogenics testing. Hope you are well.

Lyssa

[Donna]

Hi Lyssa………You are the first person I have heard of that even heard the term pre-MDS. I can’t find it anywhere when I look on line. I have a lot of questions next time I see my doctor. My WBC runs between 1.4 and 2.6; platelets about 67,000; RBC go just a little low and hemoglobin about 10. They have been watching me for years. I do seem to have way less energy then previously. Sometimes I get bruises and I know not to take any Advil when that happens. I also have osteoporosis, just diagnosed and they are talking about Fosamax infusion, but that endocrinologist wants to talk with my hemo/oncologist before any treatment. The Advil really helps with the back ache. Does your husband work full time? Let’s hope that your husband has a long time with the watch period (although it is still difficult not knowing when it will all change). I do not have the true anemia, so I guess I am lucky, but it is my platelets that have gone consistently down for a few years. In 2014 they were 181,000 and then they just went gradually down….170,000, 151,000……down to now at 67,000. I have 4 mutations that seem to be of some importance (I don’t think they are good). Well, I hope you both stay well for a long time to come. Donna

[Donna]

Lyssa………..I saw an article where “pre-MDS” was mentioned. It said they differentiate between..1) No, you don’t have MDS and your blood counts are normal for you; 2) Pre-MDS where it is evolving into a clonal hemoatopietic disorder such as MDS or a blood cancer like leukemia; or 3) full MDS. So, I take from this that I am heading toward something but they are not sure what…probably MDS. My doctor called it MDS until my bone marrow biopsy…now it is called pre-MDS. I hope the “pre” stays for a long time. Donna

[Ray Vaughn]

Donna, what were the genetic abnormalities they discovered? Can you PM me? I also have been discovered to have one, too

[Donna]

Ray……I don’t know how to PM but I can tell you that my mutations were: ASXL1, SRFS2, TET2, RUNX1. Donna

[Donna]

Ray………..What is your mutation and do you know what it means?

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