BMB Next Generation Sequencing Test

[steve_ky]

My father's new doctor at an MDS center of excellence recommends a test called "next gen sequencing." Anyone else ever hear of it? Please elaborate if you know. Thanks.

[Neil Cuadra]

Steve,

It's a new method for DNA sequencing. Where they used to analyze DNA one strand at a time, next generation sequencing does batches of DNA strands at once, "in parallel" as they say.

This can produce 1000 times as much data as old-style sequencing. It's remarkable that the first human genome sequencing took a decade, and now they can analyze your DNA in a couple of days or even in hours.

This brings up the obvious question of why they want to sequence your father's DNA.

One answer is that they are collecting data for research. For example, they look for common genetics in people with similar types of MDS, so they can correlate genetics to learn which patients will respond to which treatments.

The other answer is that they may be able to use the research data they already have to help your father.

Here and here are reports on this type of research, which has really taken off in recent years.

[steve_ky]

Thanks so much Neil. Spot on, this is the type of information I need.

The doctor said this test would help them identify the genes involved with his MDS. They expect to prescribe treatment based upon the result.

[steve_ky]

This test identified mutations in genes EZH2, RUNX1 and TET2. Doctor says the mutation of EZH2 is responsible for platelet production. Bone marrow test again showed < 3% blasts and was described as stable. He's still doing weekly platelet and red blood infusions, however, his center of excellence doctor recommended restarting dacogen. Basically he needs something to fix this gene. I'm researching the options for EZH2, but not finding anything. I'm thinking we could involve another specialist to assist the hematologist/oncologist.

Question: What type of doctor specializes in genetic mutations?

[bailie]

Steve, It is my understanding (and I could easily be incorrect) that these mutations will not go away without having a stem cell transplant. That was my situation. After transplant I developed another mutation referred to as the "Philadelphia chromosome" which combined the 9 chromosome with the 22 chromosome (9;22). These appear to be random events. I think it has much to do with the shortened telomeres that come with older age. There is an interesting discussion of this on about page 8 of the archives in the MDS thread in this forum. It is worth reading.

[Data]

Steve,
I recently had a BMB at Moffitt Cancer Center in Tampa, FL. They did the NexGen testing and identified a mutated ASXL1 gene. It has a negative prognosis for MDS but it is good to know.
Best wishes!!

Data