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Reporter's Notes: Personalized Medicine

 

Lauren Sommer by Lauren Sommer  September 11th, 2009
37.769196, -122.39106

You've probably heard about some of the breakthroughs in personal genome sequencing, where companies take a look at your DNA and send back your risk profile. That can be confusing information to have (check out this post from Quest blogger Dr. Barry Starr for his take on it). But there's a flip side to all this genetic research that doesn't have to do with risk: personalized medicine. That's where doctors can customize medical treatments to fit your genetic profile.

Right now, there are only a handful of drugs that are labeled with genetic information, so doctors can take it into consideration. (Here's an article from the New York Times that gives an overview).  But that doesn't mean existing medications are left out.  I spent some time with Deanna Kroetz in this story, who studies pharmacogenomics at UC San Francisco.  She explained that differences in our DNA can cause some of us to process drugs at different rates. We all metabolize drugs with enzymes in the liver, but based on expression of our DNA, we may have different levels of enzymes or our enzymes may not function as well.

There are plenty of other things that affect how we process drugs, like our diet or other drugs we're taking. But these genetic differences mean some people metabolize drugs quickly and others metabolize them slowly. One example that many people are familiar with is codeine.  Codeine is converted into morphine by our bodies and it's the morphine that actually has an effect — but that conversion depends on a particular enzyme. Some people have very low levels of the enzyme that's needed, so codeine doesn't do much for them.

They're also studying another drug response mechanism at UCSF and it has to do with our cells. Many drugs have to go inside our cells in order to have an effect, but if you think back to high school biology, you might remember that cells are protected by membranes.  It takes transporters – those special gatekeepers sitting on the cell membranes — to allow things in.  They also can spit things out of cells.

I spent some time in the lab with Rachel LaFond, a graduate student at UCSF.  She was running experiments on one particular transporter known as ABCG2. This transporter is particularly good at spitting things out of cells. Normally its job is to kick toxins out, but some cancers have been able to hijack this machinery.  Cancer cells with an over expression of this transporter can spit out chemotherapy drugs, which means they aren't helping the patient.  LaFond is working to understand this variation better, so they could one day develop a genetic test for it.

Listen to the Personalized Medicine radio report online.


Taking the Plunge: Diving Into my DNA

 

Dr. Barry Starr by Dr. Barry Starr  July 20th, 2009
37.33161018170129, -121.89019918441772

Hopefully this DNA analysis data will be better at telling my future than tea leaves or goat entrails.Well, I have finally decided to do it.  I have ponied up the money and signed up for 23andMe's DNA test.

This is a test that will look at over 500,000 different spots on my DNA.  From the results I'll be able to learn about my future health and my past ancestry.  Well, as much as I can learn given the current state of genetic knowledge.

And there's the rub.  I have held off on doing this for quite awhile because I am just not sure how useful it will be.

Most of the DNA studies on the big diseases like schizophrenia, autism, diabetes, heart disease, etc. have not been that conclusive.  They tend to find bits of DNA that have a very small effect on risk.

Undoubtedly as more studies are done, we'll find lots of bits of DNA like this and we'll be able to figure out our risk more accurately by adding them all up.  But we're not there yet.  In fact we're probably years away from being able to do this.

I have also been a bit squeamish about sending my DNA to a company.  Yes, I know they'll be careful but still…it's my DNA.  You can't get any more personal than that!  I would hate for someone to get that information and use it against me (think insurance agent).

So why did I finally decide to go through with it?  One reason is that I get a lot of questions from people at the Ask a Geneticist site about how useful or good the test is.  Right now I have to tell them I don't know.  I'd like to be more helpful than that.

I also think that it will be fascinating to see all of my bits of DNA.  This is the stuff that is a big part of making me who I am.  It will be so cool to look into that crystal ball even if the future I see is a bit murky.

Of course as a big old science geek I'll be interested in that stuff…it's my bread and butter!  What I also want to do is try to imagine what the test is like for someone who doesn't go all gaga for genetics.  How is it for people who aren't necessarily mesmerized by the beauty of DNA and instead are mostly interested in diseases, traits, and ancestry?

I guess I'll find out soon.  I sent my spit in last week.  I'll keep you updated in future posts.