Flu and Personalized Vaccines

As I sit here shivering, febrile and with myalgias, I had a thought. "Hey wait a second....I got the flu shot this year". Yes, it is true. For the first time EVER in my adult life I had received the flu vaccine. It's funny, becuase if you think about it, Flu Vaccine IS personalized medicine/Genomic Healthcare.

You may be saying, HUH? But it is the truth. The flu vaccine is a combination of two genes...well the protein products of those genes. Yes, much like humans there are several different types of the "flu" Influenza virus. They are classified according to these genes Hemagluttinin and Neuraminidase.

Hemagglutinin also called H and then subtyped by number, is useful for the little influenza to stick to the cells it wishes to invade.

Neuraminidase also called N and then subtyped by number is used for the "little bastard" (sorry, it is just the cytokines in my body speaking) to escape from infected cells and spread to other cells.

So when a vaccine is made they actually put components of these subtypes together with their "Best Estimate" of which viruses are likely to infect during a given year. Hence "Personalized Vaccine Medicine"

Well this year guess what. Our best guess was.....WRONG and now I sit here with the flu. This is not the only thing wrong in personalized medicine land. We have long known that sometimes we make a mistake in subtyping a woman's breast cancer for the Her-2 protein. Now we are finding a better way....through chickens. So how's that Chicken Soup for the Genomic Soul. Her-2 is used to direct therapy of a Her-2 Monoclonal antibody. For more, see the Personalized Medicine article.

The Sherpa Says: The best laid guess is as good as anybody's This is why we need to always view these technologies very carefully. Imagine getting a flu shot thinking you will have better protection, only to get the flu for the first time in years. Now imagine taking herceptin only to find out it doesn't work for you. We have to be careful and double check what we are given and what our results are. Too many people take printed reports AND clinicians at face value. While usually a good thing (Only if we understand the language) it can have some bad outcomes. Including my own illness ;)

SACGHS and DTC testing

The SACGHS met this month and alloted 15 minutes to the CDC presentation on awareness to DTC tests. The CDC funded three states to study awareness of DTC testing as well as utilization of DTC testing. They also performed a national study. The presentation reviewed this data and of note there were some intersting findings

1. Only 0.6% of the national population has used DTC tests (BTW that's 1.8 milllion people)


2. 14% of the US population is aware of DTC testing


3. 73% of those who were aware, heard through the media


4. Yet over 60% who used the tests were directed by DOCTORS!!!!!!

In addition a survey was administered to physicians. This DocStyles study had 555 physicians who were aware of DTC testing. Of Those

1. Only 4% of MDs report >10% of their patients asking for DTC testing


2. And an amazing 93% of physicians report <1%>
   
3. 96% of physicians report Journal Articles as the most trusted source for Genetic Testing Information. ONLY 6% report that other health professionals are a trusted source for Clinical Testing! (Does this include CGCs or Geneticists?)


4. The majority of info physicians receive on DTC testing is from the media, not Journals.

The Sherpa Says: There are some limitations with the public studies. One thing is for sure.....The media has a powerful lock on distribution of this information. Did you hear that Mr Murdoch? I am truly scared that the physicians do not find other physicians knowledgeable or trustworthy. YIKES!!!!

Sherpa Posts Total 100!!!!

No I am not nearly as prolific as some of my contemporaries, but hey I have only been at this since March ;)

I hit the milestone of my 100th post today. In my championing, flaming, arguing, almost getting sued (Thanks San Fran!), and just plain out bashing quacks I have discovered some amazing people and some amazing sites. The following is a running tally of blogs I love. Some genetic, Some medicine, Some not so much.

• Scienceroll by Bertalan Mesko soon to be MD



• Bad Science by Ben Goldacre MD



• Eye on DNA by Hsien Lei PhD



• Highlight Health by Walter Jessen PhD



• Revolution Health's CMO Jeff Gruen MD



• The DNA Network and its littany of great blogs!



• Mashable the blog for social networks



• Buddhist thought by James Ray



• The Entrepreneurial MD



• Great Pics from around the World at Cosmos



• The latest and greatest at Science Friday



• The Wall Street Journal's Health Blog



• Wired's Science Blog



• NPR's On The Media
  

I know that this only 14 blogs but each is worth its weight in gold. It is Thursday and July so forgive me but I have to deal with some new interns :)

The Sherpa Says: Thanks to all of you. I look forward to the announcement when I hit 500 posts! Let's keep our eyes open and realize that there are a whole lotta people out there trying to oversell genetic tests. Or even worse. Knowledge is just a set of unorganized facts. Wisdom is knowing where to find the answer. I will strive to give you that answer or at least have the wisdom to find it.

June comes Crashing In!

I am sorry it has been 2 days since my last post. Things have gotten crazy recently. I started with the launch of my personalized medicine practice. We are busy dotting the i's and crossing the t's. We have a truly "flat" organization and are able to grow at a moment's notice. This is great news for the patients! Several things are happening in this week and I want to share all of them with you.

1. My wife, daughter and myself were involved in a car crash. I want to remind everyone to please wear your seat belts. If you have children please make sure they are in the appropriate car seat for their age. These simple things allowed us to walk away unharmed. Sometimes it is all about the prevention.
   


2. At Brown University there is a conference being held, Frontiers of Medicine. My team from Helix Health of Connecticut will be up there listening to notable speakers, including Dr. Francis Collins. I look forward to him accepting a position on our scientific advisory board.
   


3. Hsien has posted on a subject I feel very passionate about, predictive, preventative medicine. If PTC-124 works out the way everyone feels it will, then we are looking at adjusting environment to avoid disease. I think this is precisely why the co-funding at NHGRI and NIEHS is so important. Because once we find predisposition we need to find out all the environmental effects. Otherwise we just know you are at risk.
   
4. Lastly, the Gene Genie is coming. I would like to thank Hsien for hosting this month's edition and Berci for motivating me to post. Have a look at Eye on DNA!

The Sherpa Says: Buckle up. June is gonna be one heck of a ride!

Gene Genie for 19 May 2007

In honor of my first Gene Genie

"It's a hundred times faster than the best serial supercomputer. It's a billion times more energy efficient. It's a trillion times denser than the best storage media. It's a teaspoonful of DNA that's a computer! And Leonard Adleman invented it."

Where is this supercomputer? Well, a group of Israeli scientists in 2004 published in Nature they had perfected the same thing where a DNA computer could detect cancer changes in cells and release a chemotherapy when positive.

Such is the same for our new "genomic revolution" Where will we be in 12 years?

This revolution is mentioned by The good folks at DNA Direct where they post twice on the subject The issue is clear, not enough trained specialist in genetics. But the question remains, is the 24th medical specialty really only restricted to metabolic diseases, developmental delay, and prenatal testing? I don't think so.......

Still we must never forget the roots of genetics. I am all too aware of the struggle people with metabolic diseases go through every day. We hear about this at Fight Pompe I am not surprised by the struggle to keep up with costs of this horrible disease.

Want to learn more about storage disease? Take a look at Sandwalk where we get 9 for the price of 1

Hsien Lei at Eye on DNA commented on the topic as well . She thinks we all can just get along. I say yes, patients and providers should get along. But patients and lab reps, just like pharmaceutical reps need to play nice too. Most of the time ;)

She also mentions the ugly side of testing at the Trinidadian Police Service where " lie detector tests would generate greater opposition than DNA testing" True, no lie :)

Future Pundit talks about the role of Preimplantation Genetic Diagnosis and its ever expanding uses. The specter of looks and intelligence for PGD rears its ugly head. Do I think this is a slippery slope, you bet. Especially when at the REI conference this April there were comments such as "We are the new geneticists" and "We determine mankind's fate" were heard by my Specialist friend. Yikes here comes Aldous........

Highlight Health reminds us that the beat moves on. The post quotes George Weinstock as saying 2007 is the year of Personalized Genomics. The full article can be found on the post. The Sherpa agrees. This year IS the year of the personal genome, from ARCHON to ILLUMINA we are moving there very quickly. I agree, that is why 2007 is the year I have launched the first personalized medicine clinic in the Greater New York City area.....soon to come out West.

Controlling our gene expression is important, and the sooner we figure out how to do it effectively we will start to see some "cures" for disease. Biosingularity points out a study working on the master PPAR, PPAR delta. We already have drugs for PPAR alpha and gamma. I used one just the other day to "cure" a woman's anti psychotic induced metabolic syndrome. Now that's effective use of your OWN DNA!

We too must remember we ARE what we eat. Our DNA is modified my our foods every day. The Agouti/Choline mouse study told us our food might also be affecting our offspring's' genes too. Scientific Blogging posts a study which is in concordance with that.

With all the debate surrounding the "utility" of web 2.0 pedias. Evolgen asks "Is scientific outreach good if facts are wrong" Something I question every day when I read the lay press regarding discovery.

These facts are often misunderstood and that's the problem. Even more likely, is what Rummy says. There are things "we know we know", things "we don't know we know", things we know we don't know" and lastly "things we don't know we don't know"

I can think of two big ones blown up over the last 2 years. The dual role of fibrillin in Marfan's disease, and Copy number variation. These two posts at Genomicron bring up that interesting content. The ideas are transmitted through road-kill.....uh I mean the opossum.

What's the solution to all this confusion? Well, at sites like Genetic Genealogists Ask the Geneticist we have some answers. More likely this type of site will bring up collaboration and communication.

That's why Rick Vidal has done a great thing by linking us together at the DNA Network

We will be able to debate, educate, and connect. That's what's amazing....

Let's flash back to 1995 and see what they say............

"By forcing the connection between computers and life, Adleman is making us rethink the meaning of both. Clearly, we have a lot of figuring left to do - but we also have new means for doing it."

Wired got it right. We do have a lot of figuring left to do and we do have a new means for doing it. Web 3.0, Medicine 2.0, and the people of the world.

Thanks for letting me host. The next Genie will be at Eye on Dna

Direct To Physician Testing... Myriad re-enters the fray.

According to my insider sources it appears that Myriad is going to launch a Direct To Consumer testing campaign for Hereditary Breast and Ovarian Cancers. Their quote is:

• "Because 1 out of 10 patients in your practice may be at risk for hereditary breast or ovarian cancer....Help Turn the Tide"
  

What happened the last time they campaigned? Demand for counseling went up 244% In addition there is a significant amount of literature that indicates the number one reason a "non-geneticist" orders a genetic test is patient request.

There are several ethical issues that need to be addressed with direct to consumer testing.

• A number of these tests lack data on their accuracy and reliability, making interpretation of results difficult.
• DTC genetic testing is undertaken outside the context of the physician-patient relationship and may lack appropriate individual and family genetic counseling,
• This often is leaving the consumer vulnerable to potential harms, such as misinterpretation of results, including false positive or false reassurance, with limited or no benefits

There are several solutions to these problems. None of which should exclude a trained health professional. Remember what I said before "beware the doctor peddling genetic tests"

The Gene Sherpa says: New York in October, the Avon Breast walk, Myriad and its DTC brokers will make some serious cash. Please make sure it is not at YOUR expense. Get the right follow up, get the continuity of care, and BEWARE NON-GENETICISTS SELLING GENETIC TESTS!

Too Far

So I have been reading another blog linked in my brand new DNA Network a Feedburner network set up by Rick at My Biotech Life. I was invited by the group and I am very excited about participating in the discussion. To have such a network encourages debate and solutions. I love the ability to communicate with other persons about the future of health care. That being said, I think this blog may have gone too far. They are talking about Direct to Consumer Testing

• "Not surprisingly, the genomic revolution has a lot of medical professionals who aren't geneticists* concerned about who's doing what, and how."

Not only Non-geneticists, but GIANTS in the field of genetics (Francis Collins, Margretta Seashore, Kurt Hirschhorn, Ed McCabe, Victor McKusick to name a few) have some serious concerns about how things are going. Including Gene Patents, Enzyme Replacement costs, and yes Direct-To-Consumer Testing. This blog goes on to say.....

• "It shouldn't be a territorial issue, but when money is involved, it inevitably raises this issue."

I would venture to say that these physicians and scientists are less concerned about money than they are the stewardship of their respective fields. Shame on this author for insinuating that they think like her. I know these people and money is the least of their worries. Lastly she finishes with

• What's the difference between a direct-to-consumer company that provides medical services and a for-profit physician group that provides medical services?

The answers are many let me start with the obvious ones first.

1. Medical practices do not get paid for the tests they order for patients. It is ILLEGAL by Stark II laws. Nor do they get paid for the interpretation of these tests.
2. The DTC company does not examine you, they may not even do a family history.
3. The physician group has a referral network to send you to when something is diagnosed.
4. The ideal group will continue to follow you even after the testing.

I could go on but I think you get the picture. Shame on this blog (which is part of my network) for foolishly trying to think they are even in the same category as a group of physicians who have ethical and legal obligations that DTC companies are not even close to being subjected to. Perhaps the physicians who are under their employ are subjected to these regulations, but do they even carry out medical care?

Must we have this argument? Collaboration is what is needed not the "framing of MDs as money hungry" I would say that perhaps there is some self-projection going on with this DTC company.

What do you think?

Of Media and Men...Down Syndrome Evangelists

Yesterday in the New York Times there was a front page story about first trimester screening for chromosomal diseases and the families of children with Down Syndrome. These families are inviting pregnant women who test positive to come meet their children with Down Syndrome. They do this in hopes of showing the pregnant woman what it is like to have a child with Down Syndrome.

I normally don't get too heated about the media. There are things I generally accept regarding the old media and genetics

1. They have people reviewing the science who have little if any genetic qualifications


2. They hype everything


3. They always look for a protagonist antagonist situation


4. They never look to support personal choice (Trust me they already have chosen for you)

So with that in mind I invite you to read this article if you haven't already. I would like to give you a little snippet here:

"The parent evangelists are driven by a deep-seated fear for their children’s well-being in a world where there are fewer people like them. But as prenatal tests become available for a range of other perceived genetic imperfections, they may also be heralding a broader cultural skirmish over where to draw the line between preventing disability and accepting human diversity."

Come on now NYT, word choice is everything here and it is clear that this paper feels strongly NOT in favor of these parents.

"They are pressing obstetricians to send them couples who have been given a prenatal diagnosis and inviting prospective parents into their homes to meet their children."

I have a hard time pressing obstetricians to refer for genetic counseling. I have a hard time believing that these parents are even given the time of day by the Ob/Gyn, let alone being influenced or bullied.

The Gene Sherpa says: In the spirit of non-directive genetic counseling (something I rarely see CGCs do completely and something I wonder if the public even wants) we should offer all options to the patient. This public forum/support group could be mentioned just as easy as a D&E. In fact I think all options should be on the table PRIOR to testing.

Read the article and let me know how you feel.