Forbes and Genetic Part 3...The Genes

So after that long and drawn out search I am most interested with the genes that these guys chose and why they chose them. I am surprised this article wouldn't have been written by a scientist or maybe a clinician. They would probably be in a better position to say how these gene polymorphisms/tests will perform.

1. Complement Factor H LOC387715; In people with bad copies of these genes, chances of macular degeneration progressing from an early, mild form to a severe one increase 10-fold to almost 50%, according to a study in the Journal of the American Medical Association. Ok so this is true. There is another gene HTRA1 that should have been included. Together these two gene polymorphisms increase your risk of AMD by 40 fold! Also there should have been some mention of the fact that there is some preventative measures you can take now with this disease including eye drops, antioxidants and diet (Fish). Also carotenoids (so eat your carrots!) Or you once you get AMD you could get injections into your eyeballs to prevent progression...Carrots are sounding a whole lot better! 1st round.......Forbes 1 Sherpa 0
2. The next up Apolipoprotein Epsilon 4 variant. The problem...Alzheimers Disease, we have gone over this problem before here. Jim Watson PhD knew that this predisposition was iffy at best. But as I state in my previous post perhaps with analyzing GAB2 we can come up with a clearer picture. But if Dr Watson doesn't want the results....Why should you. I gotta say this pick is pretty poor...for now. Especially because they don't even mention the possibility of modifier genes or Prevention (any ideas?) Round 2......Sherpa 1 Forbes 1
3. Number 3 isn't even a gene. It is a linkage locus. Chromosome 9p21 and the name deCODE shows up! OMG, this one has got me hopping mad. There are so many other linkages, why does this one show up? This increases your risk by 30% only if you are a Caucasian Perhaps a genetic panel should be mentioned. Well, I could name 4 polymoprhisms that show greater risk. And a family member with a heart attack at any age increases your risk 250% take that deCODE! Round 3 goes to the Sherpa, ....Sherpa 3 Forbes 1

The Sherpa Says: I think breaking these up into groups of 3 will be better for all of us. Tomorrow I will write about 4-6. Are you already getting the sense that these guys had no clue what they were talking about?

Dr Collins reports from the Front Lines

In the second of my 3 maybe 4 part post I will detail Dr Collins' report from the Front Lines of the Revolution!


First some notable quotes

• "2007 is going to be a landmark year in Genomics and Medicine"


• "We all have ticking timebombs in our genome, you could guess most of them from family history.........But not all of them"


• "We shall have the major genetic risk factors for common diseases in 2-3 years or less"

Without further ado I will break his talk down into sections. Dr Collins', feel free to correct anything in this.

"Notes From the Front Lines"

1. DNA sequencing is undergoing a revolution. I almost felt that he had been reading The Sherpa prior to giving this lecture. I had commented on 454 recently. On powerpoint he showed the technology behind 454 and Illumina. he did not comment on nanopore, but I think that's because it is not ready for prime time. In addition he did not comment on RainDance..............I feel he knows something big is going to happen in sequencing real soon.


2. Common Disease gene discovery is skyrocketing. In this subset Dr Collins draws our attention to several great discoveries. He talked about GWAS (genome wide association studies). He even mentioned the numbers and power required to get a decent study. I am always amazed by how the public and physicians think this type of stuff is easy! He made mention of the macular degeneration studies which implicate 2 gene polymorphisms in over 50% of the disease!!! He spoke about Diabetes, something that he has been studying for 14 years. He did not metion DNADirect and DeCode's TCF7L2 testing via DTC........ I think this is a hot topic. Especially because Sharon Terry was at the conference. A great woman who is now advising DNADirect. She is a patient advocate in the truest sense. Without her GINA would not be around.


3. Diagnostic capability is advancing. In this subgroup Dr Collins mentions Abacvir toxicity and pharmacogenomics testing. He also give us some insight into the pharmacogenomics process and how we can use these tests. By this time my teams' heads are spinning. I am reminded of my prior post. Coumadin was mentioned by Dr Collins too, the 1 hour test was not. Trust me, this flank is moving full speed ahead!


4. ELSI needs to be addressed “Will we increasingly think of ourselves as hapless victims of our genotype?.......Attention to ethical, legal and social issues is more important than ever,” Dr Collins aptly points out the fact that we have some serious loopholes in our legal protection. In addition, we have to think about ALL of the uses and misuses of this information. Later on I'll tell how Representative Kennedy is super focused on this topic.

The Sherpa Says: Ok, this is too much info. Let's digest this and move on later today..... Oh and Francis is the Man!!!