Maybe I am wrong...

So after talking with a pretty amazing reader today. I was brought to some interesting conclusions. The first of these.

1. Maybe Corporate Genomics is not so bad after all.
I know...after all this railing.....you must begin to say. "Is this Sherpa crazy?"
No, this is a critical assessment. What is the risk of using these services? Discrimination? Well, health insurance discrimination is a fallacy. Very few employers have discriminated genetically.
Changing a behavior to a more deleterious behavior? Well, the McD's fries might get eaten more often if you don't think you are going to get heart disease is a reality. Will this set of tea leaves be perceived as strongly as a physician's interpretation? Or will this get treated like it is......a suspect set of data. That is the real question. If the answer is that the public treats the computer the same as the trained professionals, then we will have true risk. This has not been proven yet. Nor has the benevolence of these companies. But I can't say guilty until proven innocent. Especially because I have 10 readers from Mountain View daily (on average)

2. Maybe Primary Care Physicians can learn to perform genetics
Huh? I know. I have data which states that it takes more than a year to learn these topics. But, I don't have data for year 2 yet. Maybe in year 2 we see a tremendous uptick in knowledge and skills. Maybe not. But, I cannot make sweeping claims without this data.

3. Maybe Google, Kleiner Perkins, Genentech, NEA are in this for the benefit of mankind.
Ok, now I am strecthing. But maybe they are? Google has been investing in earth-friendly companies, education companies....KP is investing in Personalized Medicine, We know how Genentech has revolutionized some parts of medicine.......

You see. Socrates is correct. We need to challenge that which is taken as fact.

The Sherpa Says: Doctor Oliver Wendell Holmes said "Man's mind stretched to a new idea, rarely takes it's original form" Maybe I am wrong.....Maybe I am not.....But you have to take both as possibilities.

A little Knome fact!

Well, after fighting to keep the name Helix Health of Connecticut. I have realized that just because you have a catchy name does not mean someone else doesn't have it too.

Thus is the case with Knome. I could ramble on about how whole genome sequencing is superior to the limited SNP analyses currently available. This superiority is very important for personalized medicine, but not quite important for a cocktail party. I could have posted some of the press release, but Hsien, Berci and the rest of the DNANetwork do a great job of covering this sort-of new entry to corporate genomics.

Instead, I wanted to focus on the fact that another Knome exists. In fact several Knomes exist. Some even have vice-presidents. Well it turns out Knome has been around a little while before this. In fact a company called Cambridge genomics has filed an application for trademark of the name Knome in August of this year. Smart, unfortunately I did the same thing and have met challenges. Well, they should be ok, so long as their aren't any other software apps out their with knome in their knome...oooops

The Sherpa Says: With the decreasing gene count, clearly the secrets in the genome lie in other places. These include copy number variation, methylation, and other epigenetic changes. You see, the genome is constantly in flux and change. This is why a genome without a solid knowledge set behind it is as useless as a map without a key. But it's just about as much as 2 Ferrari F430s. Living in Greenwich CT, believe me, I have seen my share of his and her Ferraris. Why not his and her genomes.....What a great Christmas present for the person who has everything else, including 17th Century Samurai Swords...p.s. Why hasn't anyone mentioned SmartGenetics yet?

Aetna and Informed Decisions

Amazing today I have had to make the time for a second post. I received an email from Heather L. Shappell, M.S., CGC. She is the founder and COO of Informed Medical Decisions, Inc. The newsworthy event is that they have partnered with Aetna to delivery informed consent for genetic testing for cancer.

What is this company? Well......

From the site:
Informed was created to increase access to experts in cancer genetics for people at risk for hereditary cancer. Genetic counselors help people and their doctors make the most informed genetic testing, cancer screening, and cancer prevention decisions

This is precisely what they are now doing.
From the press release:

Aetna (NYSE: AET) today announced that effective immediately it will offer members confidential telephone and web-based cancer genetic counseling services as a component of health benefit plans which include coverage for genetic testing. The services will be offered through Informed Medical Decisions, a national genetic counseling company staffed with board-certified genetic counselors with expertise in cancer genetic counseling.

The GTO has also just put this on their post. I feel bad replicating data, but there are some people who may not get the GTO newsletter. If you don't, your missing out.

The Sherpa Says: Telegenetics has been around for a while. The Military has been using it and there are places such as Harvard which are trying out video genetics. It is a shame that their are too few people in the field. I think that Myriad is actually helping out physicians with this task. However, a word of caution. According to my research.....the more confident a non-genetics physician is at counseling, the less likely they are to do well on a genetics knowledge test. This is where Informed comes in....at least for cancer counseling....To do more than that you need more
Although this sounds great it is too bad Aetna has one of the most retrictive testing policies for BRCA out there....

4 days too long!

I have had to sit out of the blogging game for 4 days. This was a self imposed punishment to help me get re-oriented. I have been working hard on the practices and have been talking to many different people about our next steps. So I apologize.

There are some neat things going on in the field of Personalized Medicine lately. My old friend The Mount Sinai Hospital will be offering CYP 2C9 and VKORC1 testing for Warfarin dosing. This is in addition to the other corporate labs which are already offering it, such as LabCorp, Kimball, Genzyme....

Why? I think this is part of a greater play by academic centers. Notably, Mt Sinai has a Institute of Personalized Medicine. This department was endowed by Samuel Bronfman's Philanthropic Arm. They have a mission which is to bring personalized medcine research to a point where it is ready to launch.....

They are also setting up a bio bank, offering money for people's genomes. Sound familiar? I had just talked about 23andMe possibly using their data in a similar way.....Except the investigators would be making money off of the research subjects...

Here's the difference....The Mount Sinai School of Medicine will be doing research on their own. Notably they have been doing it already. Despite some scuttlebutt about turf wars at a big institution they have started to play nice in the sandbox and put out some good research. This article I find especially timely. we have always known that genotypic variation plays a role in the metabolism of certain drugs. In this case, 2D6 metabolism has an even more important in the Ashkenazi Jewish. Here they find twice as many persons af Ashkenazi heritage have ultrarapid 2D6 metabolism. This enzyme is the key player in many psychiatric medications....

The Sherpa Says: I am absolutely certain that ethnicity will play a huge variable in the frequency of these ultra-rapid metabolizers of any medication. Pharmacogenomics may be meeting genealogy sooner than we think....Thanks to Sherpa Hsien for helping me with a SNP issue the other day......

Minding Shop

With all of this hullabaloo about genome sequencing companies and what they might do with your genome, including possibly selling the "de-identified" data to pharma companies. A great business plan, but NOT personalized medicine. I actually received 3 emails pointing out the same idea. I do know a friend of mine who sold his plasmapheresis company to the British Government, not because of the need for products in the UK, but because Bayer was this company's biggest customer.

So the whole selling data/product to pharma is a plan which can make tons of money. Which could be the reason why the"genome" service is so cheap. Last time I checked, the best bet at the craps table is the pass line, provided you are on a come out roll. It's the proverbial hook.

With that being said, I want to come back to personalized medicine and a recent study published in the American Journal of Human Genetics in the December issue. We frequently counsel patients that BRCA positivity does not mean you will absolutely get breast cancer. In fact the likelihood is less than 90%

So what modifies this risk? Well, we know for certain of 1 gene called RAD51. This gene interacts with the BRCA genes and is required for a certain type of DNA repair, known as recombinational repair of double stranded DNA breaks. It is known to predispose patients to a blood cancer called AML.

To investigate the role of RAD51 common changes/SNPs in the modification of BRCA risk, these researchers investigated the results of 19 studies from very diverse populations. The results were decent. Not a home run per se, but they gave us some insight into the roll of SNPs in modifier genes. The study indicates that your risk for BRCA related breast cancer is increased with a SNP called 135 G to C.

The carriers of two copies of this change have a 3 fold increased risk if they are BRCA2 carriers. The increase 2 fold for BRCA1 carriers. Which brings me back to my interview with Bertalan Mesko at Scienceroll. The world of personalized genomics is here, we now have the tools to say why 100% similarity in expression. So what's next for this finding? Maybe it will find its way to an Illumina of Affy Chip? This certainly would be useful information prior to prophylactic mastectomy......

The Sherpa Says: Ahh, it feels good to tell you about data leading us up to the personalized medicine revolution. We must not take our eyes off the prize here. Party tricks with an algorithm not validated is NOT personalized medicine. But the results of this study once further replicated could be. Imagine reflex testing for RAD51 SNPs after you have the BRCA results. This could put the decision process into a less ambiguous path.

Giving Thanks

In the US, today is Thanksgiving. A day where family and friends come together and appreciate what we have. We consume massive amounts of food, drink, some smoke, and not surprisingly get admitted to the hospital the next day.

This year I would like to offer up the one healthy thing you can do. Take your Family History. Started in 2005, the Surgeon General has named today, National Family History Day. So visit the HHS website and find out who has what, who died, how young.....it may end up saving your life. When your done and if you are concerned about it, Come See Us! We even do home visits!

The Sherpa Says: Happy Thanksgiving to all. Today I am thankful for YOU, my readers. Have a great Holiday!

Staying Positive

I was showered with a host of emails from my readers today. The GTO highlight, The Issue feature, Scienceroll's commentary all the readers had to say one thing. Sherpa, take it easy. You beat up on DNADirect and their questionable questionnaires, You picked on Forbes giving hype to deCODE, You pointed out that Navigenics had some sketchy ethics, Slammed Salugen, Attacked Myriad, and Now little 'ol 23 and Me. Did you have to sink this low?

Sink this low?

Wow! Ok, so I have been known to blow my top a time or 2. Can you blame me? Have I stated any incorrect facts? Maybe some, which I have quickly amended. Including the fact that DNADirect does not "mark up" test costs. Even though I am still unsure of how a company who sells tests at cost and charges 75 USD for phone consultation (even less than an academic center that is losing money on counseling pays a genetic counselor) makes any money.

So why did my readership feel this way? The answer. "Why won't you endorse us using suspect science data to give us suspect risk assessments?"

Huh?

Yes, it is true. Even the educated are intrigued by this little black box known as the Gene Journal and Risk calculator. Fine, I like the magic 8 ball too. So here it is. I am putting it on the record. I will not hate you if you use 23 and ME. In fact, I suggest you use it after taking a family history and having the familial risks evaluated. If these SNPs give you more insight than a family history....I applaud you. Here's my last appeal, please realize that this data will not be considered medical records if you use a non-healthcare company to screen your genome.

If you want the BEST coverage, you should use deCODE, 23andME, AND Navigenics services. This is the only way you will get ALL the SNPs your little lemming heart can desire.

Then, when you want to make your genome a medical record and protect it, ask your physician to review the data. If they rebuff, go see a geneticist. Helix Health of Connecticut can interpret the SNPs in concert with your family history. Your Genome In Context........ ;)

The Sherpa Says: Please don't hate me for the aggressive commentary. I am not a hateful guy. I just call it like I see it. Maybe you see it differently and that's the great thing about the Blogosphere. Different viewpoints, Different ideas, The Same Passion.