Answer to GenomicsLawyer's Question. What the FDA will do with DTCG.

Dan Vorhaus JD on his blog says "The path of least resistance may be to simply agree with the FDA....The viability will depend on how the FDA intends to categorize the specific product...."

I agree, these companies have big choices to make. If it is any indication, Counsyl (full of smart people) and now, Pathway Genomics (full of smart people) have both decided to go the route of Medical test.

Perhaps it is because they think the burden will cost less to investors than fighting the "Man"

Well, in guessing what the FDA will do, it is always best to see what they have done to a "similar" product. In this case, they have a great product that is very similar. That would be the FDA's approval of AmpliChip.

A friend of mine in Canada argues about the holes in this platform, but unfortunately it is the only FDA approved platform.

You can read the letter for the FDA approval here

This was cleared in 2005! I wonder if the DTCG companies ever looked at AmpliChip as a model before?

In the letter it is clear, microarray technology used for drug metabolism prediction is considered a Class II medical device. The letter indicated that this applied not only to AmpliChip, but also to similar devices.

It also does not waive premarket submission.

Both of these are very important points in how the DTCG groups evaluate their future business models and potential market.

The Sherpa Says: Why Conjecture? Just look at what the FDA decided for AmpliChip. It will be a similar template.

2D6 Rears its ugly head.....

Ok, I have been to hell and back......but I am back.......

I am working on a video you all may soon love to hate, I am also working on a poster for GAPPNet which you too may also soon love to hate......

Well, for all you Amplichip fans, the data from a recent retrospective analysis of German and US cohorts reveals that null function 2D6 may actually portend a worse prognosis for those taking adjuvant (after surgery) chemotherapy for breast cancer. These are women who had hormone receptor positive breast cancer stages I-III, without metastases and without chermotherapy.

At 9 years of follow up, patients who had null 2D6 CYP 450 enzymes ended up with a 29% recurrence rate instead of those who had active 2D6 enzymes. This compared to 14.9% for extensive metabolizers.

Why does this matter?
1. Tamoxifen is used a lot
2. Aromatase inhibitor therapy (Another Drug) is another option for this type of cancer
3. This test is easy to do
4. This follows the Plavix model......

My guess, Roche is about to make a lot of money on the Amplichip shortly.......

Why is this study important? It is the first sufficiently powered study to assess 2D6 genotypes and outcomes.....

Even more importantly, Tamoxifen is a Pro-Drug.....just like Plavix. This time it requires conversion to Endoxifen which is the active drug derived from Tamoxifen.......

The hazard ration for recurrence with poor metabolizers is 2.12. That is a useful thing, which may prompt refined endocrine therapy for these postmenopausal breast cancers......

The Sherpa Says: I am back!!!

The Wicked Witch? Or Not?

Ok, so everyone knows now that ACMG et.al. is suing Myriad for patents on BRCA1 and BRCA2 testing...........

Let me be the first to say that patents stifle research. At the same time patents don't stifle innovation. In fact they actually reward it. And they also give lawyers a job.....aside from Congress, these days this may actually be the only business lawyers can get steady work from......

Myriad has built quite a company out there in Utah in case you have missed it. The stock is trading at a decent 32 dollars a share, they have money in the bank and are most importantly delivering a very needed service.

In addition, they are helping patients discover risk and have some very useful sets of information and patient support. They also do philanthropy BTW.....

So I have to ask myself, should we punish someone who is doing good? The answer is a resounding yes. Laws exists and courts of law exist to hash out differences.....whether they are hairbrained or not.....

Trust me, I have seen hairbrained differences.........and accusations.......

What the ACMG is bringing is not exactly hairbrained......

That being said, if the monopoly on this test is removed, we will soon see the true and complete race to the bottom for ALL MOLECULAR TESTS......for those that think this will ONLY affect Myriad, think again.

My guess is that this move is designed to bring BRCA testing in house in a whole host of academic labs....where the send a bundle of these tests of each year. I know, I saw it first hand.......our Ashkenazi Mutations were sent off to Allen Bale's lab, NOT Myriad....

I am still trying to figure out how he saw all of those patients.....

Anyways, I digress......If the patent is removed, then this will be a deathblow to things like APOE testing and the like......Clinical DX and the 5000 USD familion panel will be destroyed AND more importantly, this may prove to be a huge disincentive to have a small boutique lab doing rare diagnosis.....i.e. GeneDx

What we would soon see is the huge shift of these labs into large academic centers and the roll up of these little labs into the big guys who can then deliver testing at a cheaper rate....not necessarily better, but cheaper.

The legal challenge here is whether gene patents are uncostitutional or not. It turns out that the USPTO is part of the lawsuit as well. Yes, correct. The very body which issues patents is being challenged......My initial gut says.....when you fight the government and the administration is pro-gov't.....you will likely lose. But in this case, we could see the opposite.

In addition to several individual women patients and researchers, plaintiffs in the case include: the Association for Molecular Pathology; the American College of Medical Genetics; the American Society for Clinical Pathology; the College of American Pathologists; Breast Cancer Action; and the Boston Women's Health Book Collective.

I would love to hear the opinion of my legal experts here....In fact I have sent out feelers to the best IP and Personalized Medicine attorneys in the land......I will let you know what they say shortly.

In addition to the illegal nature of patents, they are also arguing that it is against the First Amendment to patent scientific knowledge...

This case is landmark and likely will go to the Supreme Court (My Guess)

The Sherpa Says: Beware the hand that feeds you.......and in this case, Myriad probably should have dropped the price just like 23and- did when the economy turned south. In a recession AND a healthcare crisis it is NOT, I repeat NOT a good idea to screw with Medicare by charging 3000 USD for a molecular test.....Or Drew covered in pink in a picture from over a month ago.....

FDA Warnings, Breast Feeding and Codeine

This is something I have been following for over a year now. There were several published reports of mothers taking codeine and their babies having problems.

First, let me explain how that could happen. Codeine is something called a pro-drug. That means Codeine essentially does nothing when taken. It only works by being converted to another substance in the body. In codeine's case, that substance is morphine. That's correct, codeine is really morphine.

So what happens in these new babies is due to the metabolizer status of their mothers. If dear old mom is an ultra-rapid metabolizer of codeine, then there will be higher than usual amounts of morphine in the blood, and in the breast milk.

Recently the FDA issued a warning regarding codeine consumption during breastfeeding.

"Codeine frequently is prescribed to women after giving birth for pain associated with episiotomies or caesarean sections, the Washington Post reports. In addition, codeine is a common ingredient in some forms of Tylenol and nonprescription cough syrups, the Los Angeles Times reports" from medical news today..."According to FDA, about 16% to 28% of people with North African, Ethiopian and Saudi dissent are ultra-rapid metabolizers. Labs usually charge between $500 and $1,000 for a Roche Diagnostics test that can determine how people metabolize several drugs, including codeine"

The Sherpa Says: So does this mean all nursing mothers should be genotyped for polymorphisms in their metabolizing enzymes? Not really. What should be done is 1. Less convoluted pain medications should be given 2. If mothers are taking this drug, then they need to monitor their child for signs of intoxication (slow breathing, sleepiness, failure to feed) 3. Watch the news, you are bound to find more out about personalized medicine there rather than from your MD.

Forbes and Genetics Season 5

Yesterday I was at the funeral for my grandmother-in law. I felt bad for her and the horrible diseases she had to suffer through. Yet I wonder, would she have smoked cigarettes if she knew that she would have to go through such misery in her last 9 years.

Notably she had 3 primary cancers, Lung, Colon and Renal. She had kidney failure and needed hemodialysis. She suffered from emphysema. She died with gangrene of her legs that was not operable and not treated by the strongest antibiotics known to man. Was that all due to smoking? Sort of....Smoking combined with her predispositions to disease put her in the hurt locker. Unfortunately she had to suffer for almost a decade. Why would anyone chose to smoke if they knew this was their future? I pose that question to you.

Without further ado. I will delve into the 7th round with the authors from Forbes.

What is wrong with these authors? Did they get any advice regarding these genes?

Round 7 FTO for Obesity

Yes, obesity is a horrible problem. We are getting fatter and sicker by the day. Except if you have a heart attack. There is an interesting piece of literature which says you are more likely to survive an MI if you are obese. Crazy, I know. But somehow it has to do with hormone signalling rather than the higher rate of correct medications being prescribed to them.

But we are here to talk about the risk of obesity with FTO polymoprhisms. True FTO is found in patients with obesity approximately 1 in 5. But how does that or could it change your life? If you had this gene would you eat less? If you had this gene could you take a medication? None are being investigated that will be ready in the next 20 years! This gene is also an at risk gene polymorphism for diabetes. Why didn't they mention that with the deCODE gene????

The gene called Fatso has so little published on its relevance in humans that it is obscene for them to include it here!!!

Sherpa 5.....Forbes 3

Round 8 Amplichip Testing for Pharmacogenomics.

Did anyone read the New York Times article on PGx this week? Hsien Lei had some nice coverage on it. The amplichip will be a key player in the role of psychiatric medications. This article explains this. More importantly it has received significant attention in the psychiatric journals. The American Psychiatric Association has issued guidelines for these tests already. Personally, we are going to speak with several psychiatrists about the implication in treatment that will take place today. Will this change your life? If you have depression....absolutely!

Forbes 4.....Sherpa 5

Round 9 IL-23 for Inflammatory Bowel Disease

From the article-A rare spelling change in immune-system gene strongly protects against developing this bowel disease, Yale University researcher Judy H. Cho says. No branded test is available, but some labs may test for this gene variant.

Will this gene change your life? If you have IBD, too little too late. The IL-23 receptor (IL-23R) has been found to be associated with small bowel Crohn's disease (CD) in a whole genome association study. Specifically, the rare allele of the R381Q single nucleotide polymorphism (SNP) conferred protection against CD. Another change actually predisposes to IBD. Did they explain that in the article? Did they even mention the other predisposition genes? NO. They failed you here and led you up a blind path. Likely to your detriment. Should you have the protective test? what about the predisposition test?

Forbes Failed....

Sherpa 6......Forbes 4

The Sherpa Says: Please stop smoking. If you want to avoid chronic disease, it's better than any genetic test.