Ever since I was diagnosed with multiple myeloma five and a half years ago, hardly a day goes by when I don’t read some breathtaking headline about the promise of “personalized medicine” in the treatment of cancer.

News article after news article declares that breakthroughs in unlocking cancer's genetic code will lead to new, highly individualized, highly effective treatments.

Sounds great.  How could it not make your heart race a little faster knowing a cure is right around the corner?

Yet, when I go to talk to my doctor, none of this ever seems to be come up in our treatment discussions.

There is a disconnect here that needs to be looked at a little more closely.

In the big picture, the idea of personalized medicine is simple enough.  Even though we may carry the same label or diagnosis -- “multiple myeloma” in our case -- every one of us is different.

Myeloma is a heterogeneous disease with widely varying behaviors. On top of that, each one of us has our own individual characteristics.

Personalized medicine aims to tailor treatments to an individual’s circumstances and their specific disease.  In other words, instead of giving a person with multiple myeloma a drug because “this is what we give multiple myeloma patients”, the treatment is personalized based on certain criteria.

Of course, to some extent, this is already being done and is factored into decisions as a matter of routine.  Certain treatment decisions are made based on age, general health, kidney function, stage of disease, etc.

In addition, some multiple myeloma patients have chromosomal abnormalities that are considered to be “high risk” -- signs of more aggressive disease. Genetic testing is available that can find these abnormali­ties, and patients who have them become candidates for more aggressive treatment.

The idea of genomics is to take this personalization even further.

Ten years ago, the Human Genome Project succeeded in mapping the entire human genome.  This was heralded as the dawn of a new age of medical treatment in general and cancer treatment in particular, which would be based on targeting specific genetic mutations.

But science often moves slowly, in fits and starts.  There are lots of blind alleys, and things generally turn out to be way more complicated than originally thought.

Still, things have progressed.  The technology for gene mapping has become much cheaper and more accessible.  In certain cancers, including breast and colon cancer, specific genetic markers have been found that respond to particular medications.

In March of this year, six years after the Multiple Myeloma Research Foundation launched its Genomics Initiative, researchers published an article in the journal Nature announcing the genome mapping of 38 patients with multiple myeloma (see related Beacon ^[1] news).

The results were announced to much fanfare in the myeloma community.  The findings revealed genetic changes in multiple pathways of cell regulation, some of which were expected and some of which were not. One of the unexpected findings was that 4 percent of the patients had a mutation in a gene called BRAF, seen in patients with malignant melanoma.

All of this is very important and exciting stuff.  Breaking down multiple myeloma into its specific genetic code and figuring out which genetic pathways are involved in the disease will hopefully lead to more specific drugs that target and disrupt those pathways, giving us more ways to treat the disease.

More importantly, by identifying in a particular myeloma patient the specific genetic abnormalities he or she has, treatment of that patient could focus on the drugs that target the pathways especially relevant to the patient.

But none of this is quite as simple as it sounds, and there are several steps in the process that need to be considered.

First, since myeloma is not really one disease, there are many abnormalities.  Some of these may be clinically significant, but many may not be.  This has to be sorted out.

Next, drugs have to be developed to target the abnormalities.  Some drugs that can do this are out there, but we have probably barely scratched the surface.

It then has to be proven that these drugs actually work in people.  Clinical trials have to be carried out that not only test efficacy and safety, but also address issues of drug sequencing, combinations, and dosing.

All of this takes lots and lots of study and time.  The notion that results are just around the corner is misleading.

We also have to keep in mind that, at present, all of the testing and sequencing of the genome in multiple myeloma patients is done anonymously, strictly as a research tool.  Since it has not been validated as a diagnostic test for individuals, there is currently no way to have your genes sequenced as an individual.

What about the 4 percent of patients who may have the BRAF mutation?  There is currently no way to be screened for the mutation, and there are no clinical trials looking at drugs targeting this mutation in multiple myeloma patients.  I’m sure there will be down the road, just not now.

So let’s get down to what’s really important here: me.

I am starting to relapse again after my salvage stem cell transplant.  I know I have options.  There is an alphabet soup of drugs in clinical trials: new proteasome inhibitors, histone deaceytlase inhibitors, Akt inhibitors, monoclonal antibodies, and others.

But which one will work?  At this point, it’s like shooting in the dark. 

It sure would be nice to be able to have my genes sequenced to figure out what specific abnormalities I have, and then choose one or two of the experimental drugs based on the sequencing results.

Five years ago, that’s where I thought we would be today.  Unfortunately, it may be further off than we are often led to believe.