The Number of Gene Mutations Doesn't Matter—Yet!

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Topics include: Understanding

In the wake of the Human Genome Project, researchers bring us a steady flow of news about newly discovered genetic mutations seen in various cancers. This raises hope for targeted therapies with fewer side effects that can effectively beat back the cancer you or a loved one may have. But how hopeful should we be in the short-term? Dr. Charles Schiffer, a respected expert from the Barbara Ann Karmanos Cancer Institute at Wayne State University in Detroit says it can be a long road from the discovery of a gene to the availability of an effective medicine. In an interview with Patient Power's Andrew Schorr, he puts genetic discoveries in perspective for cancer patients.


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Transcript

Please remember the opinions expressed on Patient Power are not necessarily the views of our sponsors, partners or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That’s how you’ll get care that’s most appropriate for you.

Andrew Schorr:

Andrew Schorr on location in Barcelona, Spain, where hematologists around the world are here discussing the latest, particularly in blood-related cancers.  And of course now so many more genetic mutations have been identified in cancer, and the question is what’s significant?  We patients hear little snippets of news about new mutations and run to our doctors and say, is this a big deal?  Dr.  Charles Schiffer helps put this in perspective. 

Dr. Schiffer, in recent years so many gene mutations have been identified in cancer, now people hear, well, they’re going to a cancer center and they may be worked up to see their whole genetic profile.  People start learning about the names of these different genes, but is it always significant, where we are now with what we can do about it? 

Dr. Schiffer:

Well, I can imagine how confusing it is for patients because it’s equally if not more confusing for physicians and even people who specialize in these fields.  There are certain mutations that have had dramatic impact on the way we treat patients. GLEEVEC (imatinib mesylate) for Bcr-Abl or CML.  JAK2 inhibitors, although it may really affect JAK2, for people with myelofibrosis, etc.  Certain of the inhibitors that have come out for melanoma recently have really turned that disease dramatically around in terms of responses. 

There are also discoveries of, not quite gazillions, but dozens and dozens of other genes in different types of cancers.  For example, in AML (acute myeloid leukemia), which is my specialty, there have—and I don’t know how to quantify it—but many dozens mutations which have been discovered, some of which are present alone, some of which are present with other mutations, some of which are going to be present with other mutations that we haven’t yet discovered, etc.  Some of these are associated with prognosis, that is, people who have these mutations do more poorly.  Others are associated with somewhat better responses to chemotherapy. 

What I think is critical is, with the exception of very, very few of the mutations that have been discovered, we really don’t know the mechanism by which they make things better or, unfortunately, usually worse.  And we don’t have rational ways at the moment of developing specific pharmacologic inhibition or enhancements of these mutations.  While gene discovery has become prevalent, the technology is literally breathtaking, the hardest step is figuring out what these genes do functionally, what’s missing or what’s overexpressed, and then of course developing compounds that affect that.  And that is really the tough slog.  I think the genetics, not completely but largely, have been done, for example, in a disease like AML. 

Andrew Schorr:

So when a patient hears, reads in the paper, whatever, new gene discovered for this or that, and they go running off to their doctor, really the question is, is this significant for me. 

Dr. Schiffer:

Well, it may be, but there’s a lot of hyperbole that comes with these discoveries.  Probably a couple times a month we hear about new genes, and I don’t mean to trivialize these discoveries.  What to do about them is a very, very formidable scientific task. 

Andrew Schorr:

However, those answers you expect will come? 

Dr. Schiffer:

Well, I think they will come for some diseases.  I think in some the complex of mutations may be very difficult, may be impossible to combat with one drug or two drugs.  But we have the potential with this type of discovery to become less empiric.  By less empiric I mean throwing different cytotoxic chemotherapies at tumors and have a more rational path to drug development. 

Andrew Schorr:

Wow.  I hope that’s the progress we make.  Thank you so much for your comment. 

Dr. Schiffer:

Oh, I think it will be. I think it will happen.  It’s happened already.  It’s just not going to be easy. 

Andrew Schorr:

So as we look through the newspaper or hear something on the news, new gene identified in this cancer or that, take a deep breath because we’re not at the point in most cases as you heard, where this makes a difference in what treatment you should have.  In a few cancers, but certainly not in all. 

On location in Barcelona, Spain, I’m Andrew Schorr.  Remember, knowledge can be the best medicine of all. 

Please remember the opinions expressed on Patient Power are not necessarily the views of our sponsors, partners or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That’s how you’ll get care that’s most appropriate for you.

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Page last updated on December 28, 2013