Consumer Genomics Spin

Thank God for Dan Vorhaus AKA @GenomicsLawyer on Twitter and a nice wrap up by Emily Singer

But like a groupie believing everything one reads, I want to caution those who attend that conference.

I heard major exaggerations and one might even say misstatements from the people presenting.......

The biggest one upset me. I am a fan of Jeff Gulcher's. I think he is a great guy. And his 1 in 100,000 story about finding aggressive prostate ca because of his SNP risk is very real. But, he claimed something which had been proven incorrect.

It had been proven incorrect months ago...... Maybe he did what DTC does best.....they imply things...... Jeff implied that their SNPs for CVD actually reclassify women's risk......

In order to prove that he would need a cohort and he would have to control for all other things AND he would have to have been studying this cohort for about 20 years.....which to my recollection has not happened with deCode.....

More importantly, the SNP they discovered was not found to add ANYTHING useful to the current classification system for risk of heart attack....

However, there is something which reclassifies approximately 40% of women and 17-20 percent of men......the Reynolds Risk Score, studied by Paul Ridker et.al. up at Harvard....

In this great example, clinical risk factors are combined with genetic factors, in this case Family History and it outperforms Framingham Risk Stratification........

But to state that their tests perform the same or even to insinuate this, well, that's just intellectually dishonest and I wouldn't expect that from Jeff......which means he "must have been mistaken"


So today I look forward for more exaggeration at CGS as I call in to the ICOB meeting for the Coriell Personalized Medicine Collaborative......I implore others to follow Dan @genomicslawyer and look for the same.

The Sherpa Says: We must always listen with a critical ear to what is said by people with money or power or both......

Consumer Genomics Show

Is off and running. If you have a twitter account Dan Vorhaus @genomicslawyer, pound for pound the best twitterer around in this conference twittering space is covering the conference at #CGS

I won't make any further mention of the conference except to regret not being able to sit across the table from Linda, Jeff, Dietrich et.al.

Prior Authorization for a Medically Necessary Test?

As if this couldn't get any worse for genetic counselors, who BTW get paid next to nothing by insurers........ United Healthcare is now requiring Prior Authorization for BRCA testing. In their policy bulletin from May, Volume 31.......

The coverage determination made regarding BRCA testing for your patient will be based on the UnitedHealthcare medical policy for BRCA testing, which is based on the clinical evidence and is closely aligned with the criteria developed by the organizations listed above. This coverage determination will be conveyed to you promptly by either phone, or letter or both. Of course, adverse determinations are subject to all applicable appeal rights.

Add that to the list of scut work which the counselor will get stuck doing.... So much for same day testing in a timely fashion! At least you get an appeal!

My guess is that this set of patients will get the services they need, in a very, very delayed fashion. I sure hope we don't see a cancer develop in one of this patients while their testing is "awaiting approval"

A huge loss for cancer genetics, but also a stopgap from the misuse of testing which has been going on for a couple of years now, while Myriad has profited handsomely......MYGN...

Buttressed next to this claim is the fact that United will proved you with access to an "independent" genetic counselor..... How's that for lipstick on that pig.......which has me wondering, will that counselor be from DNADirect or Informed Medical Decisions.......DNADirect, BTW went from online test supplier to care provider........a sound business decision which I hope Navi will come to shortly.....

The Sherpa Says: Increasing barriers to prevent abuse is likely what will happen with healthcare reform....which is what shouldn't happen. What should is in the NYT Sunday....Hey, we do that!

rs2200733 ok, now what?

I am busy pouring through all sorts of association studies which I had let sort of slip through my fingers. I have been cue'ing a lot of these and only in the last few days have been able to get to them. Most of the SNP that the press put out there now seems to be dying off pretty nicely.

Although there are bits of useful data out there, most is just noise......but one of the SNPs which caught my eye was rs2200733 studied in Icelandic, Italian and other Caucasian populations with a small replication in an Asian population as well......What does rs2200733 predispose to?

Atrial Fibrillation. A condition that can lead to unannounced strokes, syncope, and heart failure (at times) Atrial fibrillation is the most common arrhythmia in the United States.

About 2.3 million Americans have atrial fibrillation (Go, 2002). Men have a 50% higher incidence than women at any age (Benjamin, 1994). Among individuals 50 years of age and older, the prevalence is higher for Caucasian individuals than African Americans.

The prevalence of atrial fibrillation is 0.1% for individuals under age 55 and 9.0% for individuals over the age of 80 (Go, 2002). HT CPMC.....

Here's why I am revisiting it? It popped up on my screen as a SNP with a study which purported an Odds Ratio greater than 2...... In my mind, no SNP should be even looked at without having this.....why?

Well, most clinical scenarios have
1. Good risk prediction tools already, as with the 9p21.3 issue
2. No true benefit of presymptomatic detection, i.e. no effective prevention (Parkinson's)
3. No ability to guide therapeutic decision making..... This is true in 99% of cases, aside from pharmacogenomics that is.......


So why am I looking again at rs2200733? Because this may actually be a case where I think it may augment my other clinical tools of prediction......Maybe.

Why only maybe?
A. Most of my patients get annual physicals with annual EKGs.....and often AFIB manifests with symptoms....
B. Most of the patients with AFIB are elderly and in the studies some indicate earlier AFIB pops, some don't which may be confounding in the study
C. Most of the people with AFIB that I see report a family history of some sort of arrythmia, most often AFIB.....

That being said, there is a population <10% who end up with No family history, Present Early and present with a stroke....It is rare, but does happen.....so I naturally would want to watch that population more than not......But does that mean I should do "More" for them?

In the age of Comparative Effectiveness, I may not be allowed to..........There is no ICD9 code for genetic predisposition to Atrial Fibrillation......

But maybe people would pay more than the 20 dollar copay for care???? Probably not that often, but maybe.....And for what? A home monitor to be hooked up on them 24/7?

It turns out

DeCode sells a test with this SNP, Is on the Affy and Illumina Chips, I.E avail for 23andM- and Navi.............
None of these are actually valid clinical tests yet though.....Similar to other "clinical" detection tools we have today.

So what I am going through is in essence mental acrobatics while I await a company to do a study which proves that there is some benefit and some action to be taken here.......

The Sherpa Says: While a promising SNP is out there, it is just that a promising SNP. Most of these things won't affect me clinically for another 5 years. I wonder what the public will do with this data? Will they go see a doctor? Who ultimately would be asking the same question I am.....and waiting for the same data

GAPPNet, Hacked Records and ICOB

Happy Donut Day Everyone!

"Wha?"

That's what I said as I walked into my Dunkin Donuts across the street from our new HQ. The guy saw me coming in, prepped my coffee, Large Blueberry, Milk and Sugar......

As I went to pay, he said, "Happy Donut Day" I barely understood what he said when the manager said "Pick your donut, FREE"

OMG, as if I wasn't fat enough. How many other of my readers took the free Donut today. I looked around in my DD and it seemed everyone took the donut.

People certainly are game for free......... Speaking of FREE, the Coriell Personalized Medicine Collaborative is in essence a Navi/23andM- scan for FREE. I just got some more results this week. I don't have Hemochromatosis HFE type, Hooray! This can be yours as well.....

That is if you are willing to participate in the study. Which BTW, will be covering some markers which are NOT covered by any DTC company.........And these markers ARE CLINICALLY RELEVANT!

So what I am getting at is that the early adopters should not be paying anything for these services........

While the donut fills my sense of hunger for food, the SNP scan fills your hunger for knowledge. Either way, it should be free. Yes, only on Donut Day, but on non-Donut day it is only priced at 99 cents.....which is where the SNP scan will be soon enough....

Speaking about the SNP scans, I am sitting here pouring through literature for the CPMC's next ICOB meeting, which I will be attending via satellite from my outpost on the Gold Coast......

We have some interesting SNPs to debate about........It seems as if we aren't the only ones doing this......EGAPP does it as well and it sure is nice to have an EGAPP member on the ICOB......

But now the CDC has created GAPPNet. Huh? GAPPNet? "Mind the GAPP." Get it? What is it?
From the Site:

"GAPPNet aims to accelerate and streamline effective and responsible use of validated and useful genomic knowledge and applications, such as genetic tests, technologies, and family history, into clinical and public health practice."

I wonder why they didn't call us.
At Helix Health of Connecticut we do this everyday.....Never mind the website, we are rebuilding it, just like the offices....... I really hope they do, as the inaugural meeting is on my birthday........I won't hold my breath though......

Come on Muin, just email me.......PUHLEEEEEZZZZ!!!!! There, enough begging for the day.

So you can read about GAPPNet in the ACMG journal Genetics in Medicine, provided you have a subscription, at 1k per year, sorry blogosphere......

As I close on this Donut Day, I want to say, not everything that is "Free" is ok. Remember that when it comes to storing your medical records........From Forbes on the 3rd, UC Berkley medical records hacked...... To protect your records, we are investigating NSA level encryption tools......You can never be TOO PARANOID......(Devilishly Crazy Laugh)

The Sherpa Says: To charge a price, you must prove value, to demonstrate value you can't go on Oprah and say it has value, you have to PROVE it has value.......You do that by "Just Doing It".......

The power of Twitter and why blogging matters.

I am certain there must be a million stories like this out there. Devoted Twitterer attends conference that others cannot, recaps the talks via twitter as physician/new papa/blogger/entrepreneur virtually attends the conference via twitter and can give color commentary......

Or this one: Conference presenters hamstring regular news, while blogger gets strategic advantage by not registering as a journalist. Thus scooping the press...... Well, I have now seen and appreciated both in real time.

This weekend while I was recovering and taking care of our newborn I was able to attend a conference the AAAS hosted a conference entitled "Personalized Medicine, Planning for the Future" it was a scientific freedom, responsibility and the law program......... The microblogger was Dan Vorhaus Esquire and the venue was Twitter.....I know I would have loved to watch the streaming webcast, but alas I had dirty diaper and feeding duty, so I could not get to my laptop.......which led me to the next best thing......my iPhone.

What an amazing invention that IS actually worthy of Time's invention of the Year.......

The next story is a slap down of Daniel MacArthur (Pound for pound the best genomic blogger out there) Welcome back from 2 weeks away Daniel, take your beating! Credit Science Insider

June 2, 2009

Cold Spring Harbor Wants Scientist Bloggers to Follow Media Rules

At a recent meeting at the Cold Spring Harbor Laboratory (CSHL) in New York state, Daniel MacArthur from the Wellcome Trust Sanger Institute in Cambridge, United Kingdom, brought into focus how fuzzy the line between journalist and scientist is becoming. In addition to reporting on genetic variation in a gene that is active in fast muscle fibers at The Biology of Genomes meeting, MacArthur wrote several on the spot blog posts covering advances discussed by the participants. Francis Collins also mentioned results on his new Web site.

A specialized Web-based news service, Genomeweb, complained. Apparently there is some rule regarding when journalists can release information. Usually they are allowed to do so AFTER the meeting.......but Daniel did it before the journalists could, thus scooping them.......

As a blogger who has been sued in the past due to blogging, let me tell you.....this could be scary business..... More importantly, it raises the question about Twitter.....Is twitter a microblog? Or is it a super fast SMS txt?

You see where I am headed with this.

In order for personalized medicine to progress, we all need to be in constant contact to let the flow of new ideas move........Could we actually be legally held to restrict its flow? Personally I think blogging and twittering is not exactly journalism, but it could be......even FoxNews has a twitter feed.

So who is and who isn't a journalist.....this could get almost as tricky as internet startup companies pretending to play doctor by running tests on your DNA and reporting results as if they were actually predictive of something.........

The Sherpa Says: Have to run, patients all morning. But as you drink your coffee and look at your DTC test results and analyze your CYP1A2....think about how much more that ability to microblog at a conference will affect your life than some 1 million SNPs will.........

Wonderful Weekend! The Consumer Genomics Show Surprise!

First, a little personal info. I am the proud father of yet another Murphy Daughter! This weekend has been amazing for me. Even better, as we went into the hospital I received an email. Normally the only people emailing at this time are my patients or I am getting results from lab tests I ordered.

So, I felt obligated to look when the iPhone buzzed.

It was an email from John Boyce....... Who is John Boyce? From his website: John recently served as Head of Business Development for Helicos BioSciences, where he was responsible for identifying new market opportunities in which the company was able to develop new applications that gave it a substantial competitive advantage.

John founded Delphi Bio a strategic consulting group for genomic start ups.......

So about a week after I got done trashing the Bubble Con known as the Consumer Genomics Show I received this email from him and Bob Green over at Harvard.

Why did I bash the conference? Well, from the line up of speakers, it looked like a wonk fest attempting to hype Consumer Genomics even more than Oprah could possibly do, BTW did you see the Newsweek article stating that Oprah should stick to talk shows and stay away from Medicine?
Further adding fuel to my cynicism......

But when I read the request it blew me away. They were trying to make Bob's panel, Fair and Balanced.

You see, I think the big problem here, no offense Francis, is that the scientists we have on the cautious optimism side are actually pretty quiet and can get pushed around by the larger than life scientists and business people (GMC? Linda, et.al.) Which on a round table makes for a one sided conversation........

Thus, Enter the Sherpa or as Jeff Gulcher calls me "The Howard Stern of Genomics" But, alas, I had to respectfully decline. Why? Why would the Sherpa shun this opportunity?

Well, I just told you in my first line. Number 2 has just arrived and I am calling in for an ICOB meeting while feeding the baby...... So, I take back a lot of what I said about the Bubble-Con, it appears that there are some people striving to give the show a balanced feel. But my guess is, the pragmatic optimists like myself, will be in small number. Which is exactly what happened with mortgages, financial derivatives, .coms, I could go on and on here.......... So when the VC enter the halls, just remember, I would have if I could have........

The Sherpa Says: A consultancy group in Boston is now offering tickets for the show at 6 USD, and even deeper discount than DNA123........I would have loved to see this show play out.....I guess I will just have to send my crew......

HT-Genomicron for the b-day cake