w00t! Personalized Genomics + Personalized Therapies

Genome-Gased Therapeutics

I’ve been trying pretty hard in this blog to focus on the story rather than all of the amazing information, research articles, tools and toys and so forth that I am collecting. The whole idea of personalized genomics or personal genomics is, well, a pretty hot topic right now. Still I didn’t realize how hot until I saw this new report from the Institute of Medicine released today.

Genome-Based Therapeutics: Targeted Drug Discovery and Development – Workshop Summary http://iom.edu/Reports/2012/Genome-Based-Therapeutics-Targeted-Drug-Discovery-and-Development.aspx

It is all about context. In more ways than one. Context is part of what makes one therapy work or not for a specific person, but it is also a big part of how we note information. While I routinely track the IOM publications and those from the National Academies Presses (NAP), since I wasn’t blogging about PGEN yet, I had failed to really take notice of the Roundtable on Translating Genomic-Based Research for Health.

Roundtable on Translating Genomic-Based Research for Health http://iom.edu/Activities/Research/GenomicBasedResearch.aspx

The report that came out today is exactly the reason WHY I am doing this. Personalized therapies are just at the very beginning, but they are what I am dreaming of having β€” finally understanding why certain treatments don’t work for certain people, or why the standard treatment causes weird side effects in some people and not others, or when does a treatment work BETTER than expected. All my life, I’ve been saying, “Fit the tool to the task.” We haven’t really been able to do that in a very dependable way in healthcare, but we are getting closer, much much closer.

I just downloaded the free report, and am skimming. Portions I am happy to see so far include:

– case studies showing conditions where personalized treatments are having significant impact, such as cancer, mental health, and cystic fibrosis;
– emerging tech, ESPECIALLY the section brainstorming potential and actual uses of genomic information;
– thoughts on how regulation and policies may hinder or aid uses of genomic information
– the focus on COLLABORATION.

I just have to share a brief quote from the opening to the section on collaboration.

“Translating genomic discoveries into patient benefits is a β€œteam sport,” Dunsire said. No one organization has all the capabilities and resources needed to realize the promise of personalized medicine. Only through partnerships can success be achieved. This collaboration needs to extend from the research laboratory to the clinic, Dunsire added. As such, collaborations can involve a very wide range of stakeholders, including industry, academia, regulators, health care providers, and patient organizations.” p. 37-38.

I am delighted to see this early mention of potential partnerships with patient organizations, and hope that this eventually extends to recognition of the patient role in sharing information both directions as part of their own health care team.

The Roundtable on Translating Genomic-Based Research for Health (RTGBRH) is doing more, of course. Here are just a couple other activities or reports from them that interest me.

New Paradigms in Drug Discovery: How Genomic Data are Being Used to Revolutionize the Drug Discovery and Development Process: A Workshop http://iom.edu/Activities/Research/GenomicBasedResearch/2012-MAR-21.aspx

Genome-Based Diagnostics: Clarifying Pathways to Clinical Use – Workshop Summary http://iom.edu/Reports/2012/Genome-Based-Diagnostics-Clarifying-Pathways-to-Clinical-Use.aspx

Integrating Large-Scale Genomic Information into Clinical Practice – Workshop Summary http://iom.edu/Reports/2011/Integrating-Large-Scale-Genomic-Information-into-Clinical-Practice.aspx



Muruga's saint, blurred

Life has been a blur lately. I spent the last part of the summer frantically trying to finish various projects associated with our home renovation. It was REALLY frantic, so I haven’t been here much. That doesn’t mean, however, that nothing was happening on the PGEN front. More puzzles and mazes being negotiated, more clues leading to quirks in the path.

Remember when I first started this, and talked about being an MTHFR carrier? I’m circling back to that. When I first looked into it the gist of the overviews I found on the topic were along the lines of, “Meh, not such a big deal. Don’t worry about it.” Folk in the PatientsLikeMe forum were talking about it, though, and seemed more concerned. Frankly, I thought they were worrying over nothing, and initially didn’t give it a second thought. Then one day I saw a comment about MTHFR deficiency being associated with autism, which runs in my family. And depression. And osteoporosis. And anemia. And … well, you get the idea. Basically, it seems to be associated with as many conditions as celiac disease, and an equally broad range of conditions. Oh, and by the way, it is also associated with celiac. Hmmm.

I thought, well, the other stuff I read said it wasn’t a big deal, so these web sites much be just flakey folks making things up. Let me go check Pubmed, just to verify. I tried a number of different searches. MTHFR is pretty wild! It is being researched in many different areas as potentially significant. I then thought, wow, it seems to almost be a fad in research right now. Well, not exactly.

Pubmed results for MTHFR by year (3 in 1990, steady rise to mid 400s in 2011)

This chart shows how many articles were listed in Pubmed for MTHFR by year, for the past twenty years. You see very little to virtually no interest in MTHFR twenty years ago, according to the publication rates in the professional biomedical literature, rising to a fairly steady number of publications in the mid-400s for the past five years or so. There is no big spike, just a growing awareness along the lines of, hmmm, this might be something rather interesting.

To make a long story short, I’ve started to look into it more closely. Just as with some other elements of the genomics scans, the information I’m learning is causing me to go back and look at some of my personal stories through a different lens.

One of the first questions I asked myself was about the core “folate deficiency” bit. Should I be supplementing with folate or folic acid? I took a look for what foods are naturally high in folate. OH MY GOODNESS!!! Darned if the list isn’t comprised of foods I usually crave. This includes foods my docs have told me I eat too much! But since I’m craving them, they get eaten.

I started thinking back, and suddenly put two and two together. The first time in my life that I felt absolutely wonderful was when I was pregnant for the first time. I had always attributed this to actually being pregnant, but you know what? When a young woman is pregnant, doctors prescribe pregnancy vitamins, which include folic acid. That was the first time in my life I had folic acid. What if … oh, wow, what if the reason I felt so incredible was because of the vitamins, not because I was pregnant? I had the same kind of “wow, see how great I feel” reaction when I started eating lots of quinoa, which is a folate rich food.

When I figured this out, I was tempted to run out and just buy pregnancy vitamins or folic acid vitamins. Dutifully, I checked first if it was safe to self-prescribe. Sigh. They recommend talking with a doc first and having your B12 levels checked. So, now I’m making that long-put-off appointment with my new doctor. I’m trying to make sense of this, but it seems to all be getting more confused rather than more clear. Blurred. πŸ˜‰