Swine Flu Concerns

From Wikipedia

Several complete genome sequences for U.S. flu cases were rapidly made available through the Global Initiative on Sharing Avian Influenza Data (GISAID).[104][105] Preliminary genetic characterization found that the hemagglutinin (HA) gene was similar to that of swine flu viruses present in U.S. pigs since 1999, but the neuraminidase (NA) and matrix protein (M) genes resembled versions present in European swine flu isolates. The six genes from American swine flu are themselves mixtures of swine flu, bird flu, and human flu viruses.[106][107] While viruses with this genetic makeup had not previously been found to be circulating in humans or pigs, there is no formal national surveillance system to determine what viruses are circulating in pigs in the U.S.[108] The seasonal influenza strain H1N1 vaccine is thought to be unlikely to provide protection.[109]

However, this type of H1N1 Influenza can be treated with Oseltamavir and Relenza. By the this time next week Helix Health of Connecticut will have an adequate stockpile for its patients and employees. We are prepared. Are you?

The Sherpa Says: This genetic "Mongrel" is spreading rapidly and my guess is that the United States Government may be ready. But the towns and states may not be as ready. You can be ready by washing your hands, staying home when you are sick, covering your mouth when you cough and keeping people home who can't do those things. If you have fevers, go to your doctor or to the Emergency Room. But remember, those at highest risk have had contact with those from or returning from Mexico.

Why Family History Matters

I am often asked by my patients why I take such an extensive family history. They also often ask, why their other doctors have never done so before.

The short reason, you very rarely find anything you that aren't looking for. True there are incedentalomas of CT scans that end up saving someone's life. But those are the rare cases.......True, there are some doctors who are so busy that they order a zillion tests in a shotgun approach because they are too busy to think through a case, let alone take a 10 minute family history.

But I am not one of those doctors.

Just yesterday patient comes in with increased thirst and increased urination......this case was classical diabetes. But I also decided to take a family history.......

It turns out he has early onset cancers in the family. A stomach and an ovarian. 2 very rare cancers which most doctors would not have caught. Why? No one teaches you about Lynch Syndrome in Internal Medicine residency. More importantly, they wouldn't have had the time to work out the pedigree if they were double booked seeing 20 patients a day.

So in addition to the diabetes work up this patient is getting, he is also getting a cancer genetics evaluation by myself. Something I am very good at. Something I teach my residents about everyday. Why? Because I know they won't get this stuff anywhere else.

So when I see a blog post from a DTC company that says Family History isn't enough, I laugh. Compared to the testing that this company is offering, Family History IS everything and more than a 2500 USD test could offer.

"Navigenics assesses genetic risk for many common health conditions, including Alzheimer’s disease, breast cancer, type 2 diabetes, prostate cancer and heart attack."

As you can see from the links...genetic testing here just isn't that useful.....Which is why it is a shady practice to misrepresent it as USEFUL.

Family History as well as a good physical exam with our current risk algorithms does a far better job than a non-clinically validated SNP scan that costs 2500 USD does......

The clinical ramifications of this man's family history make SNP scan testing foolish, but Tumor sample and Germline testing the STANDARD OF CARE. No SNP scan would lead me to do either of those tests.........But the right family history? You bet your bippee.....

In a world where Comparative Effectiveness Research is taking place, we will soon see the SNP scan placed in a lower level of test and probably not be in the clinicians armamentarium.......unless of course the results (good, bad or useless) can get patients to do something that a good relationship with a doctor has not been able to do......i.e. quit smoking, lose weight, etc.

The Sherpa Says: I am sick and tired of journalists hired as "Health Writers" hyping a false product to improve sales.....This is a crappy thing to do to vulnerable people reading your swill....

Why the hullabaloo about Swine Flu?

I already wrote a little bit about it here. But if you would like I can recap for you.

Swine Flu normally doesn't spread to humans, but this type does. Even crazier is that this type can be spread between humans. To quote the CDC

"The viruses contain a unique combination of gene segments that have not been reported previously among swine or human influenza viruses in the U.S. or elsewhere. At this time, CDC recommends the use of oseltamivir or zanamivir for the treatment of infection with swine influenza viruses. The H1N1 viruses are resistant to amantadine and rimantadine but not to oseltamivir or zanamivir. It is not anticipated that the seasonal influenza vaccine will provide protection against the swine flu H1N1 viruses. "

New viruses are formed when a minimum of two viruses merge. Pigs are known to be especially efficient genetic recombinators. The new swine virus has gene segments of the bird flu, one gene segment from a human flu and two gene segments from a pig virus.

But when I hear everyone talking about bioterrorism tests I tend to chuckle nervously. Why?
Well, for one even though this may be a "Never Before Seen" Virus, we have only been surveilling very aggressively over the last few decades....

The second reason I chuckle is because it makes all this Personalized Medicine for prevention and DTC Genomics look REAL silly. As in not nearly as important as stopping a pandemic......

The Sherpa Says: If you haven't been to Mexico or in contact with the people from San Diego, Kansas, NYC, TX, or the 1 case in Ohio. Stop, take a deep breath and relax. Wash your hands and call your doctor if you feel ill......

Buying a lab? Selling a lab? Someone's not being kosher....

First,

Happy DNA Day! I will be teaching the younglings about Bases and Epigenetics. Just like I did on Thursday at Danbury. What are you doing for DNA Day?

What I am doing other than the teaching is pointing out some fishiness in the Sequencing space. Mind you Affy is a public company......

Read carefully here.

"Navigenics said that the move to acquire in-house screening capabilities was driven in large part by a growing interest in the company's genome testing services, through increased online sales to consumers and physicians as well as expanding enrollment in clinical study programs with partners such as Scripps Translational Science Institute and MDVIP."

"Vance Vanier, chief medical officer of Navigenics, said: "Acquiring our own clinical laboratory gives Navigenics the flexibility and capacity to better respond to the growing demand for our genome testing services."

Now, that these guys are so convinced about how great the space is.......let's here the story from a publicly traded company's CEO, who ultimately could go to jail if he "lies"

Quintin Lai - Robert W. Baird & Co., Inc.
And then Kevin, in March we saw an announcement that you were handing over the CLEO Lab stuff to Navigenics. How does that change any revenues that you once had in 2008 that you won’t get in 2009?

Kevin King *CLEO IS A MISTRANSCRIPTION OF CLIA*
"The CLEO Lab revenues weren’t really that significant for us. The big learning that we had here and the big reason for starting the CLEO Lab a couple years back was really to enable our partners to get to a test, right, a lab developed test and then ultimately too a path for FDA clearance. Initially we thought that this could actually be a big recurring revenue stream for us. So, we had lots of partners, 15, 20, 30 partners that we would be working on projects. Often times the projects were fairly small and when the projects were over and they had their test validated the first thing they said to us was they wanted to open their own CLEO Lab.

So, it really wasn’t much of a recurring revenue stream for us, it was more of a job shop, which was fine, because we are enabling our partners to use our consumables and so forth. But, it really wasn’t going to turn out to be the big multi-million dollar business model that I think at one point in time we thought it might be."

The Sherpa Says: It seems to me that someone is not being honest to themselves and the public here and my guess is that it isn't AFFY. Happy DNA Day!

The argument maybe defused. Quacksalvers?

Ok,

So what happened in the DTC market was a fractionating of services with different "legal" arguments for what they were doing in attempts to avoid regulations which comes with all sorts of health care practice.

At that time I argued that these firms WERE DOING healthcare and should be regulated as such.

Astute legal times from Navigenics and 23andME said.....we aren't doing medicine. We are only using algorithms to process results of biospecimens .....Despite receiving cease and desists

They even said, we don't NEED CLIA because we aren't doing clinical testing.......

Yes, in hindsight these arguments did seem silly......they seemed silly to me at the time as well. But then these businesses fell in line, sort of..... Paired with CLIA labs and then we all moved on. But what they didn't do is submit their algorithms to regulation as well. We now see this problem getting larger. Especially as Muin Khoury and the CDC argue for complete transparency of what these "algorithms" are.

Why? Because the CDC, like me feels that they are providing some sort of healthcare service. One that will likely exist in the future as well. So much so that it needs to be regulated now, to prevent all sorts of shenanigans like those that existed even in 20th century healthcare.....

Cocaine for headaches and depression?

Traveling medical shows where women all sat in a train car and......

Mercury to sure mania? We saw that all of these things were used without regulation or guidance, exposing people to significant harm.....

Like the financial industry, the argument that regulations will prevent us from being the world leader in genomic technology is pure B.S. Just like it was with Finance

In fact, I do remember all of these money making brokers saying the exact same things I hear now from Genomicists mouths......

Scary, if you ask me.

So what about these "algorithms"?

Well, a few people confirmed that in California we have some new drafted legislation which could affect all players in this DTC and lab space.....

• This bill would require an entity that provides post-CLIA bioinformatics services, as defined, to contract with a licensed clinical laboratory to process biological specimen collection kits, except as specified.


• The bill would require an entity that provides post-CLIA bioinformatics services to employ a specified expert for approval of the algorithms used in the interpretation of the biological data of a customer.


• The bill would further impose on an entity that provides post-CLIA bioinformatics services specified privacy, recordkeeping, disclosure, and audit requirements, and would impose specified duties on the State Department of Public Health in that regard.


• The bill would also subject those entities to specified provisions of existing law prohibiting unearned rebates, refunds, and discounts, a violation of which constitutes a crime.


• Because the bill would expand the scope of a crime, the bill would impose a state-mandated local program. The California Constitution requires the state to reimburse local agencies and school districts for certain costs mandated by the state. Statutory provisions establish procedures for making that reimbursement.


• This bill would provide that no reimbursement is required by this act
  for a specified reason.

We will see if this bill passes. But if it does, it may mean the end of Auctioning Off Genome Scans......

Which puts this technology right in line with the rest of healthcare, where it is ILLEGAL/Ethical Violation to discount, rebate, guarantee or refund.

The Sherpa Says: In my mind, this argument seems to be: "You are healthcare or you are Novelty. You cannot chose both" If this law passes it would be in line with the government of California as well as New York......

Surprise, Surprise, Genetic risks in Diabetes and Melanoma!

The Annals of Internal Medicine has a great article this week on genetic risks so does the ACMG Genetics in Medicine Journal for May.


The take home point is something which people may find interesting and it is something I feel is very real. I have begun to think that these Genomic tests act a lot like a placebo. They often don't add anything clinically. Hell, they may not even do anything to guide therapy (Pgx and high penetrance genes aside)


But they often act psychologically, either for good, or for bad.


First in the Annals of Internal Medicine; People have been arguing that perhaps testing only ONE snp and representing its risk is for disease is silly and in fact taht the REAL way to represent these risks is with a multiSNP panel. In Fact, this is what has been perhaps the selling point of some DTC genomics companies.


Even with this possibilty, the CDC and NIH are not satisfied with what the DTC companies are representing as risk.......Psychologically, that could be devastating to the would be consumer. Lack of public trust is a BIG DEAL......even in this era of lack of trust in everyone.


So let's look at what a multiSNP panel would do. The deCode/DNADirect T2 test looks at TCF7L2 (rs12255372), CDKAL1(rs7756992), PPARG( rs1801282),, CDKN2A(rs564398)





The Annals did a scientific study looking at these SNPs as well as loci including HHEX (rs1111875), IGF2BP2 (rs4402960), SLC30A8 (rs13266634), WFS1 (rs10010131), CDKN2A/B (rs564398, rs10811661) and KCNJ11 (rs5219).





What did they find?

The GRS significantly improved case–control discrimination beyond that afforded by conventional risk factors, but the magnitude of this improvement was marginal: Addition of the GRS increased the AUC by only 1%.






This is why I love science. The Journalists and Public read the word SIGNIFICANTLY different than I. In this case, statistical significance (which this word connotes) is essentially a useless guidepost. Becaue the enhanced effect was ONLY 1% better rates of prediction.....But my guess is that a crafty PR propaganda firm would USE the word Significantly in a far different way to manipulate the public.






Hence, placebo effect by hyped study results. The result? Buying more tests? Ask DeCode or DNADirect about that one.







But in this case if the results caused a patient to lose weight and exercise, that would be great. I am STILL waiting for that study.






It seems though as if the genetic risks gods have answered my request, at least with melanoma.

What if we could identify risk and the clinical or medical things we could do to prevent offered no benefit?






Hence the case with testing for Melanoma risk genes. Myriad said that Melaris testing would cause a patient to get more skin exams which would ultimately "reduce incidences and detect melanoma earlier." The data for that are not there to make any judgement on its ability to reduce disease.

But what about the psychological effects? Well, in an article to be published in May's edition of Geneitcs in Medicine it turns out that people with a family history of the skin cancer melanoma show reductions in anxiety and depression after getting tested for a high-risk gene mutation.

Over one hundred patients with a FAMILY HISTORY of melanoma were offered testing for CDKN2a, yes one of the diabetes genes.....







Myriad has this test and it is called Melaris. It turns out ONLY 25 got tested.....so this is not exactly what I call a very powerful study...nonetheless....patients who found they carried the high-risk gene had a significant reduction in scores for anxiety at two weeks after testing. Depression scores were also decreased, and remained so at one-year follow-up.






The Australians are particularly sensitive about Melanoma and it turns out it this case like to "feel" proactive.







Hence, Placebo effect, as we aren't sure if clinical exams prevent disease. But also perhaps some therapeusis if the begin to start wearing sunscreen. Something you hoped they would have done based merely on their family history...If the risk was ever conveyed to that member







The Sherpa Says: Placebo effect works, we know this in medicine. The real question is whether it is worth 99,000 USD.......or even 399?

The Genome App Store.....

I was reading an article in the economist the other day, a good article mind you. It turns out that Drew Y was correct. It appears that the hype for DTC Genome scans is waning......

That being said, in the article George Church says something which sticks with me:

"Dr Church even argues that genome sequencing “will in effect be available free” because companies will give away sequencing to sell other services, such as genetic interpretation—much as mobile operators “give away” handsets to get customers to sign up for lucrative service plans. And when this happens, he reckons, “it will be just like the internet: once all this information is floating around, a lot of creative people with PCs will nose around and develop applications.”

Daniel over at Genetic Future put this out there. But it seems that the only discussion is about when the APP store will come to be.....Not if and how....

When I imagine genome applications for the next 5 years, the majority revolve around researchers......Why? That's where the market is. If you want to look at what Google thinks is a cool app, just look at the 23andMe site. They are doing precisely that. Developing apps.

I think GenomeApp is a good name here. Genome Tools on the other hand is a horrible name here. Why? Well, most of these things aren't really tools. They don't help you get work done by expending less energy.....

A programmer friend of mine tells me a story about the guy who created a facebook App which tells you your IQ. You answer some questions and voila! IQ score. It turns out that this guy just picked random questions, didn't scientifically validate his design and put out an APP, which tells EVERYONE, that they're a genius.

It turned out millions of people took the APP......Millions

Is that what we can expect from the genome APP store?

“it will be just like the internet: once all this information is floating around, a lot of creative people with PCs will nose around and develop applications.”

Yeah, just like the IQ App.....

What is the DTC SNP app that is being sold right now? Risk prediction about heart disease, stroke, diabetes etc....

But, it turns out that these "APPs" add absolutely nothing to the clinical predictive models for these diseases......

That being said, there are some non-medical uses that people find excellent. These predominantly lie in the realm of ancestry tracing. A very cool and perhaps useful tool. But this APP took years to create, not just a bunch of programmers hacking around and making "APPs"

I think George is a little naive here, or he seriously thinks it is ok to create Crap APPs and put them out there for consumption.

In this case, I wonder if these new Genome disease prediction APPs will be just as good as the IQ app....

The Sherpa Says: Everyone is free to make crap, everyone is free to buy it. But it is also the responsibility of the public health officials, press, medical and scientific communities to scream from the rooftops when the Crap could be harmful. Rather than play the game "All Ships Rise with the Tide"

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,,,,,,

Death Knell to Cancer Genetic Counseling?

ACOG has finally come around. They are now beginning to realize that it IS the responsibility of the OB/GYN to evaluate cancer risks. In this case BRCA1/2. Soon I imagine they will learn to appreciate the risk of Lynch Syndrome with their Endometrial cases.

All of this could spell trouble for the cancer genetic counselors in this country. OR it could mean a bunch of referrals. It all depends........

ACOG practice bulletin 103 recently published says

"Women may wish to discuss their personal and family history of breast and ovarian cancer with their physician in order to determine whether any further genetic assessment is warranted."

Well, with Myriad in your office saying, "Doc, you can do this test. And SHOULD do this test" It is going to be hard not too. Especially with ACOG now saying that OB/GYNs should do some evaluation.

So my question is "Now that their are guidelines, who is going to teach the OB/Gyns to do this work?"

My initial guess is the genetic counselors. Predominantly a female field it has done a great job of counseling these patients. But OB too is filled with women and they also have done a great job with other counseling. They do order genetic tests. So is this a big jump for them?

Probably not. In fact, I just spoke with a GYN who routinely orders the test and calls us for back up when the tests are positive or are variants.

Is that what will happen to CGCs in cancer genetics? Will they serve as "back up?"

If that happens, we may see a huge drop in referrals. Or we may see a busy OB not want to do this despite pressure from their patient AND the Myriad rep.

My guess, the cancer genetics programs who bill for physician consultation with a physician will likely suffer. So will those who bill appropriately for genetic counselor services. But this puts even further pressure on clinics to bill illegally, have no physician in the building with the counselors and then do a "quick" chart review on 40 patients in 30 minutes. With a flurry of signed notes.....you know who you are.

So, my guess, the "bread and butter" of Cancer genetics the BRCA evaluation will begin to fall further in the la of physicians who have had little training in genetics. Which scares me a little, but it should scare the hell out of the Genetic Counselors......What is their practice made up of? 75% BRCA? Probably.

The Sherpa Says: While community physicians are incorporating this ok, the mandate is now placed on the OB/GYNs. And when they have a mandate, you can sure as hell be certain that they will follow it. Hell, maybe they'll order the 23andME "Clinical Test".

Finally!

Finally our headquarters are being built out. After 2 months of fighting with the Town Hall we are slowly moving towards our new HQ. We will be in NYC for sure, but our HQ will be located in Connecticut. HOORAY!!!

A week away.

It really is amazing how a week away from things can help bring clarity to what is important in personalized medicine. So often I find myself getting wrapped up in what the press has botched or what PR firms have planted into "news"papers only to be further convinced that the press is dying a slow death relying on these PR types to fill empty space on the pages of their prints.....

So what is important to personalized medicine and its future? I have come up with a short list. Including a question to spark your thoughts.... For those business types who read this blog.....maybe you have been thinking about a startup....here's your chance.

1) Patient Centered Tools that matter.

Everyone ooooowed and awwwwed at these at home spit kits as a means to gain insight into one's innards......but that is a load of $h!t. The best tools include things like at home BP monitoring, Glucometers, and access to clinically validated risk calculators, like the Reynold's Risk or Framingham risk calculator for Heart Disease or the UKPDS and CDC diabetes calculators

Even with these things, who will teach patients how to interpret them?

2) Access to physicians who get it.

This may seem like a no-brainer, but with 2% of the most recent graduating medical school class going into primary care and nearly a third of PMDs contemplating retirement, we could have a big problem. Some solutions include NPs and PAs, but they will both tell you emphatically that they are not trained like an internist/pediatrician/OB/FP is...... We could have a huge problem delivering care in the next decade if we don't fix this problem.....no amount of at home tests will allow you to prescribe Benicar to yourself...That being said, most doctors don't get this field either, so we have a double shortage coming up.......How can we fix that?

3) Patient Centered Communications with your physician.

Yes, we have a guy like Jay Parkinson M.D. out there twittering about what clubs he's at or what patients location he is at, but I am talking serious communication, like email consultations, telemedicine services, etc. Yes, I am certain Jay does that too....but we need a whole lot more of this: "Email to keep you healthy and OUT of the doctor's office." Unfortunately, most 80 year olds don't have email, let alone twitter.....How do we help the elderly???

4) Presymptomatic Tests that work.

Yes, finally, we need genetic testing done in a smart way. A way that affects patients directly, by helping them get the right drug or find their risk for disease. The other day I was giving BRCA results to a patient, she initially was in tears, devastated by her results. When I reminded her that she didn't have disease, she was healthy and going to live a long life AND HAD INSIGHT INTO HER GENETIC RISK FOR CANCERS........AND HAD CLINICALLY PROVEN OPTIONS TO PREVENT IT.......Emphasis on the last part........She walked out, head held high and felt very empowered.....By having all the DTC tests in the press, we often forget that there are a whole class of clinical tests that have some of this capability. We NEED more of these tests to bring this to fruition.....and it doesn't just have to be DNA......it could be radiology, or protein, or even just a DAMN GOOD FAMILY HISTORY.....

What happens when we can't get these things????

5) Medicines which are paired effectively with tests which identify who these drugs will work for.

After my round table with Aidan Power, I took away a great point he made. "We need to classify disease properly if we are ever to expect targeted treatments for these diseases"

I think that's roughly what he said in his Irish Accent.....

How do we effectively classify diseases? How can we do it quicker?

These are in essence, the blocking and tackling of Personalized Medicine. There are a lot of other nuances....but without these, this flower known as personalized medicine will die on the vine rather than bear fruit.

The Sherpa Says: Notice I didn't say 1) 100 USD genome scans 2) DTC SNP Scans 3) Social Networking sites 4) Preimplantation Genetic Diagnosis 5) an Electronic Medical Record.....

Why? These are the things being hyped in the press, but they are the furthest from the basics of personalized medicine.....Yet in the forefront of most of the publics thoughts about personalized medicine.

Family History beats fancy Genetic Test! Again!

I was talking to the president elect of the ACMG the other day about something that could be pretty useful. I told him that even though we disagree about the role of DTC, I laud his efforts towards education.

Our teaching point should be plain and simple. The family history is the best addition to the geneticist's history and physical. It separates them from other specialities. It is a help towards clinical judgement and use of testing. This is precisely the thing that will keep geneticists from being replaced by eager self-testers and Online "web apps" to teach patients about their 6 billion base pair report.

In genetics we all know of benign variants in genes and hell, even chromosomes. Changes which in the grand scheme of things may never make a difference......that's because clinical always trumps basic science.

I was presenting with Aidan Power on Friday at Yale, when a "entrepreneur" said, "My friend a cardiologist from Cornell says that there are 'validated' markers for heart disease that no doctors are using." I told her that most "validated" biomarkers often add very little to the predictive abilities and algorithms we already have as clinicians.

I then mentioned the case with 9p21.3 where it adds absolutely no information to risk prediction when compared to framingham risk.....But is highly statistically significant for association with MI. So the statistically bamboozled non-clinician thinks that this is an amazing tool, while the physician sees this for what it is, useless information to help them predict disease risk, which is why I keep hating on these SNP chip testing companies.......They make science the lead, rather than the clinical utility.......which inevtiably will produce genohype! But I can't blame the two undergrads in Mountain View. Neither of them are clinicians......unlike Agus and Vanier.......

That being said, there is one thing that does add quite a bit.......Family History. Now in another, "Of course it does" moment a study from the home of Factor V Leiden

People used to use Factor V testing all the time. Now it has fallen out of favor. Even so you can see that sites such as DNADirect still offer it. Why? Who knows, maybe they don't follow the hematology literature so well......

From the study:

Frits R. Rosendaal, M.D., Ph.D., of Leiden University, and colleagues reported in the March 23 issue of Archives of Internal Medicine.
The risk quadrupled when family history included more than one affected member, and the relative risk soared to 64 with a positive family history and a genetic or environmental risk factor versus no family history or other factors.

Investigators found that 505 patients (31.5%) and 375 controls (17.3%) reported one or more first-degree relatives with a history of VTE. The difference translated into an odds ratio of 2.2 (95% CI 1.9 to 2.6). The association was stronger when only family members who had venous thrombosis before age 50 years were considered positive (OR 2.7, 95% CI 2.2 to 3.4) or when several relatives were affected (OR 3.9, 95% CI 2.7 to 5.7). The OR for venous thrombosis when several relatives were affected, at least one of them before age 50 years, was 4.4 (95% CI 2.8 to 6.9).

It sounds like we have some more clinical criteria which remains WAYYYYYY better than a Factor V Leiden gene test.

From the study.....

"Environmental risk factors together with a positive family history strongly increase the risk of venous thrombosis. In the absence of a known genetic risk factor, the risk is already increased more than 15-fold. Genetic testing to identify additional risk would then not seem useful."

The Sherpa Says: In another study, which will not be splashed all over the WSJ and NYT, we find, Family history has more power than gene tests.........

April Fools

So here come the insults.......

Do you really think I could be bullied? Just Google me.........

I will never stop being the counter point and the system of checks and balances.

Rest Easy....or Uneasy, depending on who you are.

-Steve

p.s. Do you think Kari would align with me??? At least Somali's would.

Sherpa's Farewell

I am afraid that my time here is shortly coming to an end. I am writing today to say goodbye. Why?


Like Joe Black said.....




"It will be revealed in due time."





I can no longer blog. I started this blog nearly 2 years ago to educate people on the promise of personalized medicine. I have helped point out some shortcomings in the medical system and the medical education system. I have complained about medical fraud, uneducated providers inappropriately ordering tests, malpractice, genetic counselors acting like physicians, physicians acting unprofessional and even acted unprofessional myself a time or 2.



I have pointed out impartiality in the press. I have indicated the lack of journalistic integrity that pervades the system.


That being said, my last year has been especially hard on corporate genomics. I have railed against research done on subjects without IRBs, I have complained about illegal activity with the promotion of tests in states whose laws forbid such testing, I have gotten pissed about the manipulation of vulnerable subjects and the despicable acts of using a spit kit to collect a child's sample against their will or without proper consent. I have laughed about the way in which these companies pretend to be medicine without taking any of the responsibility. I have even told you that these companies in their current incarnation will hinder personalized medicine's growth.


It is with that clarity, honesty and vigilance which I have been brought to a screeching halt.





These companies have way more money and power than I. They will continue to fill the echo chamber with platitudes of their superiority. In the end, they will convince you that they were the saviours of medicine, when in fact all that they did was pay a PR firm millions of dollars to sell you on the "next big thing"


I despise when a scientific study is hyped, but I understand why it is. The work is often the life's work of that scientist, who often has no ability to clinically translate it. But these companies took these scientists' work, they jumped the line and are using non-clinical science and making insinuations that it could be used in a clinical manner without nearly any more than 2 years of work.


It is precisely because of my warring against these tribes that I have to say goodbye to blogging. They have more money AND more lawyers......


The Sherpa Says: Goodbye blogosphere, Goodnight and Good Luck.