Thank You

Today I received a phone call that made my month. One of my wonderful readers called and said "I love reading the Sherpa everyday! You have some way of fitting in really interesting and insightful information that I don't get anywhere else. Trust me, I am on the Internet all the time. No one has this stuff but you! So keep it up Sherpa!"

Let me tell you a little bit about the Sherpa and his (my) day. I usually get up around five am. I hit the snooze button but it never seems to work. Mainly because my daughter has decided to get up as well. I get the baby, change the diapers and turn on the computer. These days I turn on the Treo 700wx as well. I see what emails have transpired while I was sleeping and I get an invoice from my employees overseas.

My S.O. heads to work and I am left alone with my extremely vigorous child. I feed her the bottle while checking the DNANetwork as well as turn on the "news" (what I mean here is the propaganda machine run by PR specialists)

I usually field 2 to 3 phone calls in the morning from my residents. They tell me about how things went overnight in the hospital. Then I hit the shower (yes, even Sherpa's shower)

When I get out, my RSS feeder has finished updating and my daughter has had enough of the PnP (pack and play).

I feed my lovely daughter her bottle and scan the RSS while she is eating, making notes on my Treo. I then take a 5 minute break to give her TOTAL attention. It's 7:15 am, then the phone rings, it is the sitter. I buzz her in (Thank God)

Then the day begins.....I won't share more here. But let me tell you, that part of the day has been a breeze so far.

So I want to thank all of you who read the Sherpa. I appreciate all of your time and attention. Today I want to put something out there for your digestion. AlterNet has posted on something that had worried for sometime (see here). I don't mean to upset the well intentioned people at Google (They are ALWAYS the biggest viewers of The Sherpa according to feedburner) but there are some significant concerns that medical professionals have. Now it is getting some significant play.

Google has been in the info gathering game and has been doing it very well. Unfortunately HIPAA came along and I think the guys in Mountain View have bit off more than they can chew. Do you have any idea how expensive EMRs are? I chalk it up to the HIPAA and billing code abilities that an EMR must possess. Privacy is a big issue even if GINA passes (which it will). GINA does not cover life insurance, secondary schools, potential mates.....etc

The Sherpa Says: I thank you all for listening to my morning. I hope you find as much enjoyment in reading the Sherpa as I do posting it. As for private information moving out of your control, whether you are a utilitarian or an autonomist you have to admit there is something fishy to this type of power grab.

Media Hype in Genetics??? Blame the Geneticists

First, I would like to say thank you once again to GTO.

A recent article published in Nature genetics reviewed some research done by Bubela & Caulfield. This study indicates that the journalist "hype" was actually in agreement with the original source's "hype". The story entitled "How geneticists can help reporters to get their story right" is also covered at Uncommon Ground




Scientists have a social responsibility to talk knowledgeably with reporters, and to do so is in the interest of science in an era when public funding and control over science is significant. However, some scientists avoid this task because it is onerous. At a minimum, it requires the same level of preparation that one would give to a platform presentation at a scientific conference. Such time and care are warranted, because the reach of the reporter is larger than that of the academic conference.





Well, I wonder if when pressed for a deadline, the journalist will rely on the press release written by the company/institution/PRrep.Or perhaps they will take the time to track down these scientists and physicians.....Maybe a savvy journalist can help me. Misha????






The enthusiasm of scientists for their work can feed such hype (as can the demands for grant funding). For example, in 1993, medical geneticist W. French Anderson predicted that soon, “…any physician can take a vial off a shelf and inject an appropriate gene into a patient.”18
The enthusiasm for the prospects of gene therapy among some members of the
scientific community drove a tidal wave of optimistic reporting that suggested a 10-year
time frame for gene therapy as practically cure-all. The optimism was immensely
overstated, at least for the time period for which it was predicted.





True enough......Maybe we do have to quote Pogo





The Sherpa Says: As long as scientists and journalists want to hype, I will be there to debunk. Just for you. Oh and by the way, MikeLeavitt and the HHS has just posted their report on Personalized Healthcare Prospects. The future, its here.

Personalized Medicine Creates Personalized Injury Attorneys

This excellent article written by B.J. Evans enititled Finding a Liability-free Space in Which Personalized Medicine can Bloom. points out some new potential areas of litigation that physicians who practice personalized medicine will be subjected to. I think that this article raises some good concerns and I advise all physicians looking to make the jump into Personalized Medicine read.

Interesting points included

1. There is no litigation precedent for failure to identify non-responders. There is a well defined system for adverse drug reactions. But what happens if we detect injury at a molecular level? I don't remember ever seeing a lawsuit for mildly elevated liver enzymes with a cholesterol lowering agent. But could there be? I would say that is a detector of drug injury. From the article:

Consider the hypothetical question, ‘‘Would you refuse to prescribe a drug
if a screening test predicts that the patient will be a non-responder who will not benefit from the drug, but not be harmed by it? Assume no alternative therapy is available
and the patient expresses a strong desire to attempt treatment with the drug.’’
Many physicians indicate they would be fairly likely to acquiesce with the patient’s request to try the drug. Similar acquiescence is seen in studies of how direct-to-consumer drug advertising affects prescribing decisions.

Interesting the same effect is seen in genetic testing. Which is why Myriad is shelling out for the campaign. Despite older studies showing that testing was not increased back in 2003. They hope that the newer data holds true. We'll see.

2. There is only a small risk of being sued if a drug demanded by the patient proves ineffective. There is a greater perceived risk of being sued by a patient whose condition worsens after a strongly desired treatment has been withheld. I personally know that this is an objection by several practitioners I have spoken with. "Why put myself out there?"

3. A few states do treat drug labeling as the standard of care, but many states treat it as just one factor to consider (see ref. 19, y7). Being the first to embrace a new technology carries risk, if there is no clear regulatory standard for courts to apply, and if the professional standard of care is mired in traditional practice. Today’s malpractice rules reward conformity, placing individual physicians in a poor position to lead the charge in applying efficacy biomarkers.

4. Clinical translation of pharmacogenomics may ultimately be a long, phased process that begins in niches where favorable legal conditions can be found. ERISA provides a favorable
niche that may make insurance reimbursement decisions the initial locus of clinical translation.

The Sherpa Says: This is an excellent written article illustrating the unknowns out there. I feel that there is even more out there that are "unknown, unknowns". While we are moving at light speed towards a personal genome, we need to step back and think about all of the legal implications that we may create.

I want my Genome!! What about your cholesterol?

Today I read something that blew me away! While Myriad is hammering away on NYC TV to get your BRCA test. 10-15% of all breast cancer patients have BRCA mutations in either 1 or 2. These tests cost over 3000 USD a piece, even worse, there are very few clinical changes that result from positivity of either mutation.

The stat that hit me like a punch in the nose was "80 per cent of women in the US between 18 and 44 don't know their cholesterol level" I couldn't believe it! This according to a recent survey by the Society for Women's Health Research (SWHR). This non-profit agency "encourages the study of sex differences between women and men that affect the prevention, diagnosis and treatment of disease".

This is what I find funny. A patented gene test can have a multi-million dollar ad campaign, but women's heart health gets barely a whisper. Despite heart disease being a much bigger killer in women. If you thought carrier status for breast cancer was a big deal. Having an elevated cholesterol is the closest thing to having a heart attack. Even worse, there are some simple preventative things you can do for cholesterol and it doesn't include surgery or medications.

So while we all bask in the glory of The Personal Genome Project and 23andMe, we need to get a grip. Just because you can get your genome sequenced, doesn't mean it will tell you your cholesterol level. Clinical acumen is what is required for personalized medicine, not technology alone.

The Sherpa says: According to this study "More than half of the women 18-44 surveyed were concerned about cholesterol, but the vast majority weren’t aware of their personal cholesterol level and one-quarter did not even know how cholesterol is tested" Why? Because we don't have Quest lab reps stopping by your PMDs office telling you that you MUST test women's cholesterol. That means asking your physician to check your cholesterol is up to you!

Readers' Corner

I just wanted to highlight a comment made by one of my readers. I think it illustrates the point of screw your safety, we're taking this Prime Time

From my comment section:


I don't disagree that there is and will be a "gap phase" but the assertion that "overselling genomics could ruin the promise of personalized medicine" is ludicrous! The technology is going wherever it can no matter what - the more "wild west" the approach, the more tracks get followed, then darwinism (and capitalism) takes over and the worst ideas die off anyway. Otherwise, why don't we still have people with red flags walking in front of our cars? Where is the grand thinking that took the US to the moon nearly 40 years ago? "Nanny-state" thinking and unnecessary caution is this country's worst enemy.

Nanny State?

I guess child labor laws are nanny state.

What about making sure children's toys don't have lead paint on them? Oh, but that would be nanny state too. Clearly interfering with the progress of corporate america...




The Sherpa Says: I hope this comment puts this square in your face. Let the buyer beware, because the seller isn't going to. I imagine they did a boatload of calculations and assurances of safety PRIOR to ever launching that rocket. You always should when human safety is on the line. But heck, why should we with genomics in medicine? That would just be a nanny state. The lack of regard for human safety and medical malpractice is disgusting........ To this esteemed reader. I agree to disagree.

Thanks to Dr Bettinger

I would like to thank Blaine over at Genetic Genealogy. He brought up a good point that I decided to clarify. The good folks over at Genome Technology Online thought so too.


September 14, 2007
Slow Down, and Mind the Gap

At Gene Sherpas: Personalized Medicine and You, Steve Murphy writes that overselling genomics could ruin the promise of personalized medicine. He defines the "gap phase" in between genomics and medical application of genomics as having "to do with literature and evidence based medicine. In medicine, doctors try not to do anything without good data that shows long term outcomes." The problem, he writes, is that there needs to be more physicians trained in genetics, or more geneticists available to them to interpret all that new genomic data."

In reading the link, I realized that several members of the DNANetwork have been quoted. I am so glad that we have this wonderful group. Even though we all may not agree, all the time. I think we all can agree that to get the best information on the bleeding edge of genetics, health, and science all you have to do is tune in to the network.

Lastly, I wanted to make a plea for Bertalan Mesko over at ScienceRoll. He is looking for donations to have his genome sequenced. I only can imagine the ebay implications........ If you thought auctioning off your baby's name was unique. Wait till they start auctioning off genomes!!!

The Sherpa Says: Berci, Helix Health of Connecticut will pay for your genome once the cost is 1000 USD. Although we don't recommend using the WHOLE genome for healthcare decisions quite yet.

Up To Date meets Illumina!!

If you aren't aware of what UpToDate is, chances are you are not alone. But if you are a physician, I am certain that there is no way that you have not heard of this valuable resource. This website was originally conceived of and designed by Burton Rose and has revolutionized medical practice. For a subscription fee you get access to articles written on almost any subject of medicine (Very little on genetics though)

It allows physicians to practice on the fly Evidence Based Medicine. It is very informative and worth the subscription fee.

Imagine if there was a genomic resource which would allow physicians to translate genomics into the practice of personalized medicine. My answer is.....soon such a tool may exist. I have just finished a brief conversation with the physician who may be the next Dr Rose.....

I can't reveal much without his permission. But that gap we're minding may just be closing a little bit!