What is molecular profiling?

What does sequencing genes mean? Your genes consist of DNA, and DNA is a series of nucleic acids that we summarize as GATC. And sequencing is just a way of converting the molecule DNA into a series of letters that we can GATC that we can analyze on the computer. How do you know if you have a wrong sequence? Are they compared to normal sequences? The best thing to do in sequencing is to compare the sequence of the tumor DNA to normal DNA from the same person. And then you look to see if there's any differences. Sometimes it's not practical or cost effective to sequence the normal DNA from the same person and then you base your findings based on the frequency of any given change. If it's never been seen in a normal person before, then you can assume that it's probably in the tumor. Is molecular profiling the same as DNA testing and next generation sequencing? There's many different things for the same thing. So DNA testing, molecular profiling, next generation sequencing, they're all talking about the same test. Is next generation sequencing or molecular profiling done in the clinic or only through research centers? It is done through the clinic, but it varies, it depends on where you practice. It's not, I would say most hematologists do not use it for multiple myeloma, whereas it's quite common, say many solid tumors and leukemia for instance. But depending on where your doctor practices, they may have a panel that can be used for all of hematologic malignancy, probably be the most common. Sometimes a panel that's really specific for multiple myeloma, although that's less common. And it's relatively straightforward. But I would say most of the times the doctors don't order it and it's not always covered by insurance. A patient can certainly ask to have sequencing done. And as I said, I think it's important to know if someone has a 17P deletion, you'd really like to have the sequence to know do they also have a P53 mutation. But typically you would need to ask to have it done before you know if the patient has a 17P deletion. But what can be done is you can tell your doctor hold some sample aside and then if need be later send it off for sequencing. But it tends to be a little bit tricky I think for a patient. What does a next generation sequencing report look like? What can you do with that information? Let's say for instance that you do have a 17P deletion. If you got back a sequencing report, it would list the mutations which are present in the myeloma tumor and presumably are not present in the normal cells in that patient. And they would say, you know, there's a P53 mutation. They might say there's a KRAS mutation. It would list a number of genes that are mutated in the tumor. And it makes quite a big difference. For a patient who's got 17P deletion but does not have a P53 mutation, their prognosis is the same as a patient who doesn't have a 17P deletion. And in contrast, if they've got the 17P deletion and a P53 mutation, they have very high risk disease and the approach to that patient tends to be much more aggressive. You'd consider tandem transplants, increased consolidation, really doing everything possible to get and maintain a complete response. So it can make a big difference in how a patient's treated. I guess I could add, so currently we're probably over treating some patients with 17P deletion because we don't know which one has the P53 mutation and which one doesn't. But we know by statistics only two-thirds have got the P53 mutation. So one-third of them don't and we could presumably save one-third of patients the excess toxicity from over treatment.