Longevity Gene Study, The hype cycle must die!

You know what I love. I love a good story.

Magic research discovers Longevity genes, now humans live to 900. Just like Methusaleh.

Great headline. Unfortunately, this may not exactly turn out what it was cracked up to be.

From the WSJ 1 July 2010

"Scientists discover keys to long life"

"By analyzing the DNA of the world's oldest people.......They expect soon to offer a test...."

Tranlsation, here is why you should read this story about this amazing discovery, because soon you can take a test to discover if you will live a very, very long time.

Ok, this assumes

1. The study is correct
2. The statistics are correct
3. The findings are replicated

What's worse about the article is that there isn't even One Iota of, this is a preliminary and needs to be backed up.

Instead!

Instead, they say

"The free test will be available through a public website maintained by the New England Centenarian Study"

Come An' Get It!

Well, the website doesn't have the free test. But I bet it had a million hits the day the WSJ article and the press hype came out.

One may ask, as I am now, Once the afterglow fades, what will be of this test? Further, will the paper now stand the test of scientific scrutiny.

Just this week, despite the hype machine again rearing its ugly head like it did with Time's invention of the year in '08 or the blimps and Oprah. "An Age Old Problem Solved"? Really Globe and Mail?......We are met with discourse and doubt

There are some issues with the paper. Some skeptical about the effect size. Other's, like myself are skeptical because the SNP chip used for controls and cases was not EXACTLY the same. This can at times produce noise and false positive variants....

I am going to ask the hype machine again. Before running with an AMAZING Story, Mr. Hotz and everyone else in the press. Please take the time to get both sides and an analysis of the study BEFORE publishing the story.

The Sherpa Says: I hope this does pan out though, it sure would be interesting to have an estimate, in this case 77% accurate if you would live to 100. I use family history for this and it is not as accurate as 77%. Who gets that number anyways?

Death Knell to DTC Genomics?

I was sent this article 6 times in the last 6 hours by friends and colleagues.

What's the article? "Genes Show Limited Value in Predicting Diseases"

I say deathblow to the DTC Genomics, because this article points out the issues surrounding using this limited information......

"This method, called a genomewide association study, has proved technically successful despite many skeptics’ initial doubts. But it has been disappointing in that the kind of genetic variation it detects has turned out to explain surprisingly little of the genetic links to most diseases."

What are the majority of reports you can get from 23andME or Navigenics or DecodeMe?


Reports which rely on "GENOMEWIDE ASSOCIATION STUDIES"


Not that there aren't any great genome wide associations......I think of Age Related Macular Degeneration for one.......but for every great study, there are 20 crappy studies. Which, to the unskilled observer could be made to look just as powerful. And then Silicon Valley Style Hyped, to make it to market.


I repeat, the utility of GWAS studies in Public Health NEED to be studied. Just like they are with the Coriell Personalized Medicine Collaborative.



But selling this information to people at a cost of 400 to 2500???? Sketchy at best!

From the NYT article...

"These companies are probably not performing any useful service at present, said David B. Goldstein, a Duke University geneticist who wrote one of the commentaries appearing in the journal.
“With only a few exceptions, what the genomics companies are doing right now is recreational genomics,” Dr. Goldstein said in an interview. “The information has little or in many cases no clinical relevance.”


Which is why I am aligning myself with some good People from Long Island who have been shouting this from the rooftops for about it.

A great example is this perspectives article precisely about this topic in the New England Journal of Medicine this week!!! (Only 3 this time Daniel)

Useless DTC Genomics? Not exactly. Someone is making money and has some use for it.......


The Sherpa Says: A good clinician saw this coming from a mile away. Why couldn't Venture Capital? Or the Public? Or the Scientists???? Funny, I just gave the same lecture to medical underwriters for the life insurance industry on the 14th,,,,,,

GINA will PASS! Thanks GTO!

I was eating lunch today at the Lotos Club with a good friend and mentor from SF today. This gentleman sits on corporate boards and is a tremendous advisor. Do you know what he said to me? Mind you, he always seems to have an answer and the experience to back it up. Today he said "I don't know" That's right, he said those 3 words. I was blown away. He and I agreed that the only reason was simply because.....No One Knows. I liken our venture into genomic medicine much like the microsoft and internet ages. No one knew...they were making up the rules as they went along.

Today, it is the same. Try to play with fire? You get burned. Try to find money for the perfect model and you get beat by someone rushing to market with something less than perfect....who then ends up buying a competitor. Jeez, genomics is the wild west. But I am back East!

I think we are well on our way. But legislators are stepping in and making the playing field bumpy for the non-medical types. Just as they send out threatening letters, the NY Times posts that Doctor No is going to say Yes. It is reported that GINA will have it's day in the Senate!

I have been saying forever that if you pass GINA, all the physician misconceptions of genetic discrimination will be washed away. That being said, there is some good advice here. Always consult your geneticist or counselor regarding these implications.

So as my poll closes tomorrow, it is pretty clear the majority lies with GINA getting passed next year. I voted for next month.....To quote my Friend Happy Gilmore "Somebody's Closer ;)"

So with GINA on its way, it is only a matter of time before we have more people enter this industry. Speaking of industry? Who is going to the Beyond Genome Conference in June?????

I will be speaking there about the fusion model of genomic medicine. Don't miss it! All 20 minutes of it ;)

To close on a Snarky note

My friend and I were eating and I said. Imagine what it will be like in 20 years? We will be the old timers. He said "Yeah, it'll be just like the internet crowd. You will probably be saying 'Man back then it really was amateur hour!'"

The Sherpa Says:

GINA is merely one hurdle.....now we really have to start with education.....of everyone. We must not let our curse of knowledge lead us into thinking everyone can do what we do. Who wants to help me start teaching? Call me. Oh, and Misha....I hope this pic meets your approval.

The Sherpa Reaches 20,000

Thank you to all of my readers. I hope we have hit a significant landmark. I know the climbing will be tougher now. I hope you too are prepared for the next phase of this ascent. Remember, getting there is only part of the battle.

The 24th edition of the Genie is up. 24 is my lucky number and this edition delivers, so check it out.

The news that I will announce has to be delayed until Thursday. Sorry, but the legal dept. just won't budge. As for the news....here's a hint. National exposure.

I am dying to deliver my message and have been speaking to the public and the press about this topic. Lee, if you can hear me. Please give a call.

Some great things have popped up over the last week

• The prostate cancer risk genes and Family history. Guess what? Family history doubles the risk which the genes confer. Big surprise!


• EGAPP issues its guidance on ONCOTypeDX. Close to ready for prime time. MammaPrint, too soon to tell.


• Six new genes and Cholesterol? Get the genetic tests? No. Go get your cholesterol checked.


• Searching for your ancestry? Wind up finding cancer! If this happens to you give Helix Health of Connecticut a call


• The Gene Count drops to 20k! Should be easy for Google to catalog that.

Stay Tuned!

Google Innovation? Google Conspiracy? You Decide

In reading through my RSS feeder I stumbled across an interesting video at Testing Hiatus. It comes from the website Master Plan the Movie. Before you watch this YouTube video I first would like you to take a gander at an excerpt from

"The Google Story"

Sergey Brin and Larry Page have ambitious long-term plans for Google's expansion into the fields of biology and genetics through the fusion of science, medicine, and technology. . . .One of the most exciting Google projects involves biological and genetic research that could foster important medical and scientific breakthroughs. Through this effort, Google may help accelerate the era of personalized medicine, in which understanding an individual's precise genetic makeup can contribute to the ability of physicians and counselors to tailor health care treatment, rather than dispensing medications or recommending treatments based on statistics or averages.

"We need to use the largest computers in the world," Venter said. "Larry and Sergey have been excited about our work and about giving us access to their computers and their algorithm guys and scientists to improve the process of analyzing data. It shows the broadness of their thinking. Genetic information is going to be the leading edge of information that is going to change the world. Working with Google, we are trying to generate a gene catalogue to characterize all the genes on the planet and understand their evolutionary development. Geneticists have wanted to do this for generations."Over time, Venter said, Google will build up a genetic database, analyze it, and find meaningful correlations for individuals and populations. . . . Google's data-mining techniques appear well-suited to the formidable challenges posed by analyzing the genetic sequence.

It has begun work on this project, but has not been required to disclose any information about it publicly since the work has no impact on its current revenue and profits."People will be able to log on to a Google site using search capacities and have the ability to understand things about themselves as they change in real time," Venter said. "What does it mean to have this variation in genes? What else is known? And instead of having a few elitist scientists doing this and dictating to the world what it means, with Google it would be creating several million scientists.

"Google has empowered individuals to do searches and get information and have things in seconds at their fingertips," he went on. "Where is that more important than understanding our own biology and its connection to disease and behavior? With Google, you will be able to get an understanding of your own genes. Google has the capacity to do all of this, and it is one of the discussions I have had with Larry and Sergey."

Ok, So now you can watch the movie at Testing Hiatus

Let me know what you think. Does Don't be Evil mean Be Good? Or Does it mean something else?