The Genome App Store.....

I was reading an article in the economist the other day, a good article mind you. It turns out that Drew Y was correct. It appears that the hype for DTC Genome scans is waning......

That being said, in the article George Church says something which sticks with me:

"Dr Church even argues that genome sequencing “will in effect be available free” because companies will give away sequencing to sell other services, such as genetic interpretation—much as mobile operators “give away” handsets to get customers to sign up for lucrative service plans. And when this happens, he reckons, “it will be just like the internet: once all this information is floating around, a lot of creative people with PCs will nose around and develop applications.”

Daniel over at Genetic Future put this out there. But it seems that the only discussion is about when the APP store will come to be.....Not if and how....

When I imagine genome applications for the next 5 years, the majority revolve around researchers......Why? That's where the market is. If you want to look at what Google thinks is a cool app, just look at the 23andMe site. They are doing precisely that. Developing apps.

I think GenomeApp is a good name here. Genome Tools on the other hand is a horrible name here. Why? Well, most of these things aren't really tools. They don't help you get work done by expending less energy.....

A programmer friend of mine tells me a story about the guy who created a facebook App which tells you your IQ. You answer some questions and voila! IQ score. It turns out that this guy just picked random questions, didn't scientifically validate his design and put out an APP, which tells EVERYONE, that they're a genius.

It turned out millions of people took the APP......Millions

Is that what we can expect from the genome APP store?

“it will be just like the internet: once all this information is floating around, a lot of creative people with PCs will nose around and develop applications.”

Yeah, just like the IQ App.....

What is the DTC SNP app that is being sold right now? Risk prediction about heart disease, stroke, diabetes etc....

But, it turns out that these "APPs" add absolutely nothing to the clinical predictive models for these diseases......

That being said, there are some non-medical uses that people find excellent. These predominantly lie in the realm of ancestry tracing. A very cool and perhaps useful tool. But this APP took years to create, not just a bunch of programmers hacking around and making "APPs"

I think George is a little naive here, or he seriously thinks it is ok to create Crap APPs and put them out there for consumption.

In this case, I wonder if these new Genome disease prediction APPs will be just as good as the IQ app....

The Sherpa Says: Everyone is free to make crap, everyone is free to buy it. But it is also the responsibility of the public health officials, press, medical and scientific communities to scream from the rooftops when the Crap could be harmful. Rather than play the game "All Ships Rise with the Tide"

British Eyes are Smiling........Or Degenerating

This week in the New England Journal of Medicine we have a study from Cambridge. This is a new player in the established Age Related Macular Degeneration risk polymoprhisms.

Age-related macular degeneration(ARMD) is the leading cause of visual impairment in the elderly and the most common cause of blindness in Western countries. It affects the macular region of the retina. The macula has a high density of photoreceptors and provides detailed central vision.

In the early stages of the disease (referred to as age-related maculopathy), deposits develop. Later, the disease is manifested as either extensive atrophy of the retinal machinery. These conditions can lead to a loss of central vision.

The pathogenesis of age-related macular degeneration is poorly understood. As with other late-onset chronic diseases, susceptibility is influenced by age, ethnic background, and a combination of environmental and genetic factors. Smoking status and family history are well-established determinants of risk.

According to the study which evaluated SNPs from the C3 and C5 genes there was a significant association between C3 polymorphism S/F (Arg80Gly) and ARMD in addition the homozygote carrying 2 FF types actually had an Odds Ratio of 2.6 combined for both Scots and English. For the Scots the risk is higher at 2.9 This is where we really see some risk. If this would be published in the media, they would say "New Gene Increases risk by 290%"

The Sherpa Says: Now this study has some teeth. Personally I feel that if we use a Richter Scale to judge studies and findings my Gestalt would be 4 on the PGP Richter Scale!!! Now we need some prevention studies with these linkages. Any Takers? Lastly, I received a message from Salugen. I vow that I will post the data they have. But I also will review the data prior to posting.

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?