Genomics Into the New Year

What will the New Years bring genomics. Well, I have had my ear to the ground and have some ideas.

First the obvious
1. GINA will be passed by hitching a ride on another bill. How sad is that?
2. Navigenics will enter the fray and telemedicine will have a whole new face. What that face will look like is yet to be completely determined.
3. One of these companies will get sued

Next the less obvious
1. Academia will start to market personalized medicine
2. Helix Health of Connecticut will not be the only face to face private (non-Academic center) personalized medicine service...and they will be welcome friends. There are so many out there who need this.
3. Oprah will have her Genome sequenced ( I swear it will happen)...Obama too

Finally the inconceivable
1. Jim Watson will pass from this earth
2. A little unnamed startup will win the X-Prize
3. Mark Cuban will buy the rights to all of 23 and Me's genome database

The Sherpa Says:
To know the future we must look at the past. And if we fail to learn the mistakes from our past, we can always blame our genes. Or at least have the journalists tell us we can.

Hooray for Francis!!!!

I am so glad that the United States has decided to award Francis Collins with the Presidential Medal of Freedom. It is about time we pick up the pieces from Watson :(

On another note, has anyone noticed how expensive it is to subscribe to all these wonderful journals? I read voraciously and am thankful for my institutional subscriptions. But what if you had to pay for your information? An example is the excellent Journal Pharmacogenomics. Bundled with Personalized Medicine(Its sister journal) you end up paying 1595 USD. This is the same for many journals out there. I only pick on these journals because I deem them mandatory subscriptions for the future of quality medical care.

I would like to congratulate Dr Robison over at Omics Omics who has made it to the one year landmark with his blog. If you do not know who he is, you should. His blog is a daily read of mine and I love to listen to him discuss current topics. One of my favorite posts illustrates the power of personal genomics. Congrats Keith, Here's to another wonderful year....or ten :)

There is a neat site which I have discovered, despite not being from Chicago. The site is from the Chicago Public Radio and is called "The DNA Files" Recently they have been featuring me on their site as a "File" I would like to thank CPR (cute acronym). Everyone should take the time to look at this site. It has some very useful links, I happen to like the link to Dr Kittles work on the genetics of prostate cancer. Something near and dear to my heart...

Lastly, I would like to invite you all to review/comment/copy on Helix Health of Connecticut's new shiny website at www.helixhealthofconnecticut.org/index.htm

LRP8 and Familial MI....Ho Hum

This month in the American Journal of Human Genetics we have some interesting publications. Including an association study identifying a gene known as LRP8. So what is LRP8? It is a receptor for bad cholesterol. When bad cholesterol binds this receptor, platelets (the bricks in your blood that build a clot) become sticky making it easier to thrombose (form a clot).





I am interested in this study for several reasons. First, it has been shown that platelets get stick even after ingesting a Big Mac. That's correct. Just one fast food hamburger can theoretically precipitate a heart attack. So naturally we would love to know who. Think Personalized Diet/Nutrigenomics. I wonder if Salugen can hear me now? I still haven't received their "Scientific Data" yet. I will publicize it if they do.





Back to the study. So what was studied is a group called the GeneQuest families of familial MI, the control group was some white men who were given cardiac catheterization and found to have no atherosclerosis burden (OOPS). Well, that control does not mean they did not have atherosclerotic burden, because catheterization cannot identify 30% occluded vessel plaques.





In addition their findings were replicated on an Italian cohort of familial heart attack as well. So why do I say Ho Hum?





Let's see: No Odds Ratio was greater than 1.43 This 43% increase in heart attack and coronary artery disease is still less than the family history risk itself. The only good thing was that this risk persisted even when controlling for plasma total cholesterol levels, triglyceride levels, hypertension, and diabetes, in addition to age and sex.





What is your odds ratio for heart attack if your father had one prior to 65?


The Answer: 5.8 according to Maren Scheuner's article on familial risk for MI.





Do you now see why I say HO HUM about this gene? When will we see the gene card panel for MI??????

The Sherpa Says: Listen to all of this hulabaloo about Ventner's Genome. Even Men's Health magazine says you should bank your parents DNA if they die. What good is all of this if we don't have a key to the map? The map will make no sense! LRP8, APOE4, I could go on and on. What good is a genome map, without a guide? What good is the guide without the studies? Why did you buy the iPOD early, only to have late adopters get it cheaper? For the rebate? Doubtful. This is why primary care physicians are late adopters. If you want to get your genome (and I do) then you better be prepared to find someone who will help you understand it...becasue cliff notes, or Navigenics just won't do. Nor will scarfing down Big Macs....

Personalized Medicine since 1986???

First I would like to apologize for the lack of postings on interesting topics lately. I am glad that others have picked up my slack. Notably Hsien and Bertalan's interesting posts this week. Or for an in depth post on the politics of health care and the reform movement check out VentureBeat

What I want to pay attention to today is the question I inevitably get asked when I speak to other physicians. "Is what you say feasible in a 7 minute consult world?" The answer is inevitably NO. I do not feel in my heart of hearts that we will ever be able to practice personalized medicine in a 7 minute consult world.

What's needed is a Revolution. We need a place where the patient has access to their records and their physicians 24/7. We need a place where the patient is given the skills to understand and manage their disease. My friend's 12 year old son can quite effectively manage his diabetes, how come a 45 year old venture capitalist cannot? Support is the key and learning is the motion required to open the lock. How do we make these things easier? How can we get doctors to teach their patients? What ever happened to true continuity of care? These are big questions that need answers. I don't have them all. But I am working with some great people who will find those answers.....

So the next question is "How can we have the knowledge to practice these things?" I often tell physicians to go back to college or read a book on genetics. If you don't have the time to do that, then you will fail your patients. This often meets an uproar of disbelief......I am pretty good at pissing people off. Just ask Lisa Lee at DNADirect ;)

In all honesty, we need some clinics who offer personalized medicine consultations. These specialists need to guide care in collaboration with PMDs. I am building this model in NYC! We will be seeing patients in July. Give me a call and we can arrange to start the relationship.

But there has been someone doing this since 1986!!!! Wha??? The HGP was only 3 years in and they were providing these services. Yes that is correct. Greats such as David Rimoin and Maren Scheuner helped form and develop this practice. It goes by the "trademarked" name GenRISK Adult Genetics Program. It has been in practice since 1986 offering several tests that you can see on their site. I have been critical of predisposition tests unless clinically indicated. This is an example of how a personalized medicine practice can be run.

The Sherpa Says: Genomic and Personalized Medicine need to be given in a continuity of care. Family history changes, medical history changes. A one time consultation cannot deliver that kind of service. Oh and what about pharmacogenomics?