deCode Versus Arthur Caplan PhD.

To attempt to sort out the hype from the hope, Sherpa Style. I will review each and every SNP that deCode is using for it's Breast Cancer Test. This weekend I will cover the first 2. But first some hype from both sides.

Dr Caplan from MSNBC

Genetic testing for all sorts of conditions is all the rage these days. Everywhere you turn, some company is urging you to spit in a cup, take some blood or swab your cheek so your DNA can reveal your health risks, know who your long-dead ancestors are, pick the right mate or help you design a diet that is perfect for your genetic makeup. But, "spitomics" has gotten way ahead of genomics.

Sadly, the tests Decode and other companies are offering are more likely to empty family pocketbooks and leave women with a false sense of security than they are to prevent breast cancer.

Dr Gulcher from deCode

Arthur Caplan stresses caution in the application of the new genetic risk tests for common diseases and I certainly agree that genetic testing should be applied with care. However, he goes too far when he says that the new deCODE BreastCancer genetic risk test is only useful for women who have two or more close relatives with breast cancer, is not based on large enough studies to be accurate, and is not regulated........Each of the genetic markers in this risk test have been replicated in between 5 and 30 different populations in studies by deCODE genetics, the National Cancer Institute, and UK Cancer Research.

These studies have been published in the most prestigious, peer-reviewed journals, including Nature Genetics and the New England Journal of Medicine. Altogether almost 100,000 patients and controls have been studied to define the marker risks. We made this test available for physicians to order for their patients through our reference laboratory which is regulated under CLIA by the US Federal government.

There are two major types of breast cancer: the rare, early onset form that occurs in certain families and for the detection (for which the Myriad Genetic test is well suited), and the common form which accounts for 95 percent of breast cancer.

Well, Dr. Jeff, you are making the case for BRCA smaller than the data shows.....So right off the bat I am a little suspect.....The number for familial breast cancer is 10-12% and BRCA has the majority of that......Oh and you do read the economist don't you? Famous is not always better buddy.

Ok, so who is right. The chances are high that they both are. But let's go to the tape!

What are the SNPs they test for? On limited weekend hours I will review 2 SNPs.

1. rs13387042 when looked up in a pubmed search only shows one article in Nature, by guess who? deCode.....still waiting for this "Well replicated SNP"

What does this SNP reveal and for whom?

Population: Icelanders, replicated on Northern Europeans (Sweden, Spain, Holland, US MEC)

Prevalence: 25% of Europeans, widely varied in other ethnicities

Function: Unknown, no genes known in this linkage disequilibrium block.

Penetrance: Unknown, OR is 1.2 for ER positive and 1.06 for ER negative

This study isolated 10 SNPs and only 2 SNPs replicated, I don't see the unreplicated ones in the paper. Importantly, this SNP did not replicate perfectly in the Swedes.... The SNP varied widely between ethnicities in the Multi-Ethnic Cohort in the US.......They observed no interaction between the 2 SNPs that replicated in Caucasians.....The effect seems that it could be recessive.....

The study even acknowledges that this was a limited effort in finding risk SNPs....."However as the relative risks remain low, they (these SNPs) can only account for a small fraction of the familial clustering of this disease.

2. rs4415084 guess what, the same thing happened with this SNP. Only one article, by guess who? deCode. This time in the Brief Communications of Nature Genetics......I look forward to the Independant Replication...

Population: Iceland first, then replication in (Sweden, Spain, Holland, US MEC). It flopped in Nigerians!

Prevalence: Not reported in this one and only paper on this SNP

Function: Unknown, but maybe linked to FGF10 which is amplified in 10% of breast cancers. Also MRPS30 is in this area....but really, we have no freakin' clue.

Penetrance: Unknown, but the OR for ER positive breast cancer is 1.27, for total breast cancer is OR of 1.14

So let me translate. These are 2 of the seven SNPs DeCode claims will help show risk of common (Read as not BRCA related) breast cancer. If this is any indication of the rest, I am sad to say that they are out on a limb here.

Several clinical questions come up when I want to order this test.

1. Who do I test? In the case of these SNPs, I would guess white women.

2. How common is this risk? Not very common in the case of Asians or Africans. In fact in one of these papers, a SNP being tested for didn't show increased risk, it actually showed protection from breast cancer.

3. How do I counsel a positive test? Tough to say. We don't know the penetrance, we know an odds ratio for a certain group.

4. Can I see deCode's data on their magical risk calculator thingy that includes these SNPs? Or is that a trade secret?

5. How reliable is this science? Not very, the studies were replicated by deCode and not by other groups.....

6. Is this "test" validated? I would love to review the seven panel test publication....oh wait, I couldn't find it.....

Not all of these SNPs are that thoroughly validated or as "replicated" as Dr Gulcher said. So this is the case of rushing to market with a test.

The Sherpa Says:

This test is Hype until proven otherwise. I await the future studies on these SNPs. Dr Jeff does a good job on deCode's blog of promoting it though. I know early detection is key and pre-disease is the new disease, but a clinician has to have confidence in their tools. This one is a little primitive for me.......and at worse could give patients a false sense of security. So guess what......Jeff and Art, you are both correct.

Burrill Report....deCoded

Consumers are worried about developing genetic based diseases, but remain reluctant to use genetic tests that will provide early warning signs.





That is the lead statement in the executive summary from the Burrill and Company Personalized Medicine and Wellness report issued last week. Many may ask "What's this report have to do with me?" many have even doubted the validity of the report in favor of the blogosphere......In the arena of Genomic Medicine, I would say the blogosphere is pretty one sided.....IN fact, that is why the Sherpa is popular. Until I started blogging, this place was pretty much a mutual admiration society. Further proven by the backlash I received when I said that governmental regulation was coming and then came.


So let's go back to the poll.....


Second Line

Companies need to make the case for the benefits of testing, allay privacy concerns, and would be wise to work through doctors.


We have known this in Medical Genetics for a very long time. If you have counseled anyone, you know these concerns to be true.....


Only one in five consumers said it was very likely (5 percent) or likely (15 percent) that they would get a test in the next few years to measure their genetic risk for certain diseases.


This is a point of contention between Daniel and Me.......He says 20%......I say 5%....


Why? Only the very likely will get the test. It is just like a referral to see another doctor.....if you aren't feeling ill, only the very likely will ever go see that specialist.....It is called the attrition rate and is commonly understood in medical care......only 20% of your "presymptomatic ill" ever go see the referral.


So, I remain certain, the market for these tests is 5%

Just 4 percent of those surveyed said they have ever had a genetic test to determine their risk for a particular disease, but two-thirds of those who did so because it was recommended by a doctor.


My guess is that these patients received BRCA testing. What this doesn't say is who ordered the test and was it done DTC versus through a physician. Did the other one third "Ask" a physician for the test? The most likely reason a physician orders a genetic test? You Guessed it "Patient Request"


I don't believe all of this self reported survey (Physicians never like to look out of the loop) but the most likely reason to test is pretty strong.


Factors associated with ordering or referring included practice location in the Northeast [odds ratio (OR), 2.30; 95% CI, 1.46-3.63%],


feeling qualified to recommend CSTs(cancer susceptibility tests ) (OR, 1.96; 95% CI = 1.41-2.72),


receiving CST advertising materials (OR, 1.97; 95% CI, 1.40-2.78%),


and most notably, having patients who asked whether they can or should get tested (OR, 5.52; 95% CI, 3.97-7.67%).


It Trumps Feeling Qualified!!!! Even Myriad knows this!


So with this in mind, let's go back to the Burrill Report.


What About GINA????

only just over a quarter of respondents (28 percent) said the passage of GINA made it significantly more likely (7 percent) or somewhat more likely (21 percent) that they would undergo genetic testing. A total of 68 percent said the passage of the law would have no effect on their decision to get a genetic test.


Remember the rule of attrition......that to me states only 7 percent feel more likely to test.....But the physician recommendation may alter that a little bit....not alot, but a little. We saw a spike at Helix Health of Connecticut....so I know this must be influencing some....


SO Who did the report?

The survey, conducted through ChangeWave’s proprietary network between May 27 and May 30, 2008, is based upon responses from 550 consumers.


AND THE NETWORK CONSISTS OF?????

Nearly 3 out of every 5 members have advanced degrees and 93 percent have at least a four-year bachelor’s degree. This is a proprietary network of more than 15,000 highly qualified business, technology, and medical professionals in leading companies of select industries—credentialed experts who spend their everyday lives working on the frontline of technological change.


IS THERE MORE TO COME?????


These results represent the first part of a three-pronged benchmark personalized medicine and wellness survey that is being undertaken by Burrill & Company. Companion surveys of physicians and industry professionals will be joined with this study for the final report, which will be made available this summer.

I found this article in 2007 by David Ewing Duncan very useful. The Quote from Lee Hood and then from David Altshuler both physicians.....

David asked Lee who has met with Google and has long been a maverick bridging the worlds of biology and I.T., "do Web entrepreneurs truly understand the limitations and pitfalls of this science?"

“They absolutely do not,” Hood says. “The heart of predictive medicine is in getting clinical validation and working out the fundamental biological systems—how genes and proteins and other elements interact. I don’t think that most of the Web 2.0 crowd entirely gets this.”

The he asked David what value do you see?

Critics also see little value in testing healthy people for a wide range of possible diseases. “We don’t take an M.R.I. for everything, and I don’t order every test for every person,” says Harvard geneticist and physician David Altshuler, a key figure in the Human Genome Project. “Those who do are scamming people. It’s the idea that just knowing something is useful—well, maybe, maybe not.”

I wonder what the physicians poll will show????

The Sherpa Says:


The writing is on the wall....Despite what the blogosphere says.....if these guys have 15000 members, why poll just a paltry 550? Because all they needed for an effective sampling WAS 550....We are not talking about a study to establish linkage here ladies and gentlemen...we are talking polling....much like political polling they only need a good sample....unlike(No offense) the skewed sample in the blogosphere. To Industry I say, get to know your doctors. There is a reason why Myriad is so successful......

Ball's in Bush's Court and Why I Love Genome Technology Online!

I hope everyone who reads this will subscribe to Genome Technology Online (This is not a paid advertisement this is my opinion).

Why? If you are asking this, it is likely because you have never received the email newsletter.


I am always impressed by their ability to capture the essence of what is going on in the Genome World Daily. They have excellent reports for purchase as well. But frankly, just getting the email everyday makes my heart twitter (I can't get sued for using that word can I?)


Today they poke fun at Corporate Genomics and make mention of 2 very well written articles. One over at the Wall Street Journal. Yesterday I took Marilyn Chase to task. Marilyn, please don't get mad. Just give me a call next time you are writing about genome studies.


And another story at Portfolio. The WSJ article will be lifted by me or maybe they lifted the Sherpa.


Despite heavy marketing by some genetic-test makers, the wide use of genetic tests has been held back by a variety of factors, including questions about the tests' usefulness and concerns that results could be used by employers and insurers to discriminate against people. Critics argue that many tests can't accurately identify which people are at risk for various illnesses.


Tests are often pricey, costing hundreds of dollars. "In the common diseases, there's more predictive information today in knowing family members had it than knowing" the results of the newly developed genetic tests for such conditions as Type 2 diabetes, says David Altshuler, a professor at Harvard Medical School.


Anna, I loved the article. Well written and balanced. Maybe you could get together with Marilyn?


Even better is the article from Portfolio, where KK at The Quantified Self/Wired contributor and David Ewing Duncan go over corporate genome scans. It is funny, but in KK's blog he finds 23 differences in the genome scans between 23 and Me and DeCodeMe....Get it? "23" David also points out several differences. Gentleman, your risk differences from companies is simple.....Unless viewed in the light of family history, these scans are not relying on much in the way of science. One or two very large studies does not equal good medicine. I am sorry to say that, but it is the G_d's honest truth. You need medical guidance to truly determine these risks.

Hmmm...that's funny. I have only been saying that for the last year.....



To give equal time to these parties...We recently saw a wonderful patient who had one of the Navigenics scans. Here's what we found. The patient had a much higher risk for heart disease based on family history. In addition, may have a familial hypercholesterolemia. I am certainly glad that the patient came to us for a family history. We are seeing more and more of these patients. I think it is because of articles like these.

The message is simple. Don't expect much from these scans and in fact you should have some evaluation by a trained medical professional to make the most out of your results. Not to say these companies can't do great things. They just need a litlle collaboration. In fact Our Values mirror theirs.


As for the WSJ quote by Keri Stefansson. Does he think I am an idiot? You may be able to slip this past the public, but not me.......Obviously all that training in neurology made him forget the 1 year of training he did in internal medicine, Or gave him dementia.


Kari Stefansson, chief executive of deCODE genetics Inc., an Icelandic company that markets an array of genetic tests as well as a broad genetic scanning service, says tests for such conditions as Type 2 diabetes are important, partly because negative results may convince consumers to try healthier behaviors. "All preventative medicine is based on the assumption that you can raise concerns," he says. "Are these guys telling me it hasn't been worth measuring cholesterol all these years because other factors also affect heart disease?"


Well Keri....maybe you forget to tell the paper that an elevated LDL or a Low HDL or a high triglyceride level are like way more predictive of risk for Heart Attack than your TCF7L2 genetic test is predictive of Diabetes. At least by a factor of 10 if not 100. In fact his statement just pisses me off. How dare you, as a medical doctor, compare these things! It is disingenuous. You obviously want to confuse the public and have only one agenda. Selling your test! Shame on you... You are supposed to be a scientific physician. What kind of comparison is that? Do you remember your hippocratic oath? I would expect that hyperbole from non-physicians, but from you???? I am embarrassed.

"In every house where I come I will enter only for the good of my patients, keeping myself far from all intentional ill-doing"


The Sherpa Says:


I hate saying that I have big news when the television journalist drops my interviews in the end. But I have some even bigger news. Stay tuned, I will be able to tell you about it in 2 weeks. It does look like the United States will have big news too, since GINA has now passed in the House. So I say President Bush...."Ball's in your court" As for these articles on corporate genomics. Like Senator Obama, scrutiny is not doing the corporate genomics companies any good.

The New BRCA and SubSegments of a Segment

First and Foremost,
To all women who have hereditary patterns of Breast Cancer, but have a negative BRCA work up....there is new information which deCode has released in Nature Genetics. I was very excited about this and look forward to some significant replications.

From a recent MarketWatch report
Common variants previously discovered by deCODE on chromosomes 2q35 and 16q12 are together involved in an estimated 25% of ER+ breast cancers. The analysis in today's paper also reveals that a fourth known set of variants, located on chromosome 10q26 and accounting for approximately 16% of breast cancers, appear to confer risk exclusively of ER+ tumors. deCODE is applying these variants as the basis for a DNA-based reference laboratory risk-assessment test the company plans to launch in the coming months

The rationale for such testing is all the more compelling in ER+ cancers, since drugs such as tamoxifen have been shown to be successful in preventing as well as treating these cancers, and other drugs now in development may prove to be safe as long-term prophylactic therapy as well.

This is huge news. Imagine being able to pinpoint risk for ER+ breast cancer. We already have medications which can reduce the risk of these cancers!!!!

I think the excitement was there until......I looked at the Odds Ratio! So to recap, "New genes for breast cancer, but the increased risk is only 20% above the population". In fact, that was the largest effect. So I want to say Ho-Hum about these tests and probably will. But, the American Cancer Society is recommending MRI for those who have an increased risk for breast cancer. Notably once that risk is 25% about the population risk. This MIGHT put people into this category....I say MIGHT!

So this leads me to my next question is this a medical test? Or a recreational genomics test?

A report by BioArray News..

By Justin Petrone
Hoping to insulate themselves from regulatory pressures from at least one state health agency, some direct-to-consumer genetic testing services may position themselves as disease-risk testers while others may focus more on recreational genetics, such as determining genetic ancestry.

Thus, I ask what testing company could insulate themselves when it is obvious that even ancestry testing can reveal medical data!!! Personally, I feel that when applied...any genetic test can identify medical risk.

So is all genetic testing medical? To subsegment in a hope to protect from legislation is disingenuous at best. The government is going to come down hard on these companies... All in the name of protection of the public. Why? Because the public like the physician is not quite ready for this.

Blaine points this out over at The Genetic Genealogist.
Some concept questions were failed by over half of participants. Which only reinforces the public's lack of understanding and susceptibility to hype. Much like the WSJ hype on this finding. Shame on Marilyn over at the WSJ for not reporting the mild increased risk and instead lumping this in with the BRCA gene risks!

The Sherpa Says:
The public is anxious to buy into hype. Companies are anxious to build hype and it seems all too convenient that the press is willing to help. The path is getting complicated. Let's use the principles on this one. 1. Await replication 2. An Odds Ratio less than 2 is not that impressive 3. Don't believe the reports, unless translated by a professional.

Just saw the BRACanalysis Ad on ABC 7

First off, please vote on my site. "How Much Would You Pay For Your Genome!

For those of you who live in the Greater New York Metropolitan Area. You are in for a treat! I just saw the confusing, puzzle like ad for BRACanalysis (The BRCA tests by Myriad)

Do you remember those tile shifting puzzles where you have to move all the pieces the right way to get a clear picture. This is actually a perfect metaphor for this ad. It shows women of every race and age all in blocks. The boxes look exactly like the aforementioned puzzle.

Each woman says a different thing and they all blend together. From "My mother has breast cancer" to "my father's sister has breast cancer" they make it seem that all breast cancer can be detected by this test. The commercial states BRACanalysis B. R. A. C. "Be Ready Against Cancer" Too bad they don't give their aunt's age, and no one says "everyone in my family has breast cancer" This ad portrays sporadic breast cancer as an indication for BRCA screening.

This paper describes the past ad campaign. My gut says this is the same as before. Guerrilla marketing does state that you do have to be consistent and have commitment to be successful. SO IF AT FIRST YOU DON"T SUCCEED.......

This type of advertising creates an opt-in, directing you to the website BRACnow which is actually a pretty useful site. The problem I have is when you are searching for a provider. They list several physicians who have not had cancer genetics training. Which is ok.....if you have a NEGATIVE test. But what if you have a Variant? Also my question is....... why are there so few genetics providers in the Tri-State Area? I know my group at Helix Health of Connecticut can do these services, but where are the other providers?????

The Sherpa Says: Here it comes New York.....I hope you are ready. Too bad most NYC genetics providers are booked for 6 months in advance......

Forbes and Genetics Part 4

Ok,
Sorry I took off Sunday. I just want to take the time to make a public service announcement. Please talk with you loved ones about your wishes if you were to have a terminal illness. Sometimes these wishes can not be conveyed and this will lead to horrible outcomes. So please, please have a living will.

Thanks.

Now back to the slugfest!
I have received even more emails about these postings. Luckily none from Lawyers yet ;)

Round 4 BRCA1 and BRCA2:
From the article-One in 500 women have mutations in one of these genes, which normally keep tumors from growing. That gives them a 50% to 80% lifetime risk of breast cancer and a higher risk of ovarian cancer, too. The test costs $385 for women of Jewish ancestry who know they are at risk for a particular mutation. A broader test looking for any defect costs $3,120.
Succinct, accurate, and applicable. However, they did not get into BART testing as I had posted about in my Blame Portugal segment. The also did not point out that BRCA testing can detect pancreatic and prostate cancer risk as well. This could have been much more informative and useful............Sherpa 3 Forbes 2

Round 5 OncotypeDX:
From the article-This test looks at 21 different genes that can be out of whack in a breast cancer tumor and predicts how likely cancer is to come back after surgery. That helps women decide whether or not to get chemotherapy, which can cause side effects such as nausea, hair loss and numbness. The test costs $3,500 and is covered by MediCare, UnitedHealthcare and Aetna.
I am not so sure "out of whack" is the best way to describe this testing. Perhaps, "whose expression leads to poor outcomes and recurrence" is a better way to describe it. Well, I am one to mince words myself so I can't get too picky. But the answer is...Absolutely an important test. This has been proven, validated and replicated.
No doubt this round goes.....Sherpa 3 Forbes 3!

Round 6 TCF7L2 testing.
From the article-This variant, in a region called TCF7L2, doubles the risk of adult diabetes if you have two bad copies of it--10% of people do. It is the strongest diabetes-promoting gene yet discovered. DeCode Genetics sells a test for $500 via online test provider DNA Direct.
Ok, before I go slicing into this test several caveats. 1 I absolutely abhor testing for the sake of testing. Especially when the result is not definitive. It leads to confusion, poor compliance and a false sense of security. I am disgusted by this type of testing. Especially when just one sibling with diabetes gives you greater information.

Now to the dissection of this claim. First, this polymorphism is a good and replicated polymorphism. But not everyone with diabetes has this change. The gene is about risk and there is no study available which show there are significant steps you can do to mitigate this specific gene risk. True you can diet and exercise just like you would to prevent diabetes anyways. In addition, the increased risk given by just this one polymorphism is not that significant. What is more likely to change your life is a panel such including genes identified by Dr Collins et. al. This study was published before the Forbes article and they easily could have mentioned all of these genes in one part. But they did not. Why? I think it has to do with the ties to deCODE. But that's just the conspiracy theorist in me.

I have an issue with this quote-"It is the strongest diabetes-promoting gene yet discovered."
Wow!! In what population? There are other genes in populations not northern European that have higher risk. This statement is almost false!!! Frankly I think we should take a point away from Forbes for this. But I won't.

Sherpa 4 .... Forbes 3

The Sherpa Says: I love how the media mixes true things into their agenda. It is a sneaky way to appear factual and credible. If they would have to submit these things to peer review before publishing, then we would have a different story. How come no one holds journalists to scientist standards? Especially when writing about Science!!

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!

Mammography at 40

Recently the American College of Physicians (The Organization of Internal Medicine/ACP) released guidelines regarding mammography at 40 years of age. Until now the ACP guidelines were everyone 40 and over gets mammography. There is very little good literature that supports this previous recommendation, yet the American Cancer Society, ASCO, and ACOG still recommend that every woman 40 and above gets a mammo every 1-2 years. The ACP found that in their analysis the conclusion was "Although few women 50 years of age or older have risks from mammography that outweigh the benefits, the evidence suggests that more women 40 to 49 years of age have such risks." After reading the study and looking at the guidelines, they are not that drastic. Key Point Include

• Women 40-49 should have routine risk assessments for breast cancer risk. What is increased risk?
• 2 first degree relatives with breast cancer
• One with breast cancer and a previous breast biopsy(the patient)
• Previous breast cancer
• Previous noncancerous breast gland changes(DCIS, atypical hyperplasia)
• Prior chest irradiation (for cancers/not for a chest xray)
• BRCA1 or 2 mutations or family members with these mutations
• Physicians should inform these 40-49 year old women of the risks and benefits of mammography. What are the risks?
• False positive results (never shown to cause psychiatric problems:anxiety, depression etc.)
• Radiation exposure
• False reassurance from missed tumor
• Clinicians should base their screening mammography decisions on the woman's preference and risk profile.

The Gene Sherpa says: If you are younger than 50 mammography should be a collaborative choice between the physician and the patient. The problem?....When has a physician used a risk assessment tool to evaluate a patient for breast cancer? Sure cancer geneticists do this. But Internists? Sounds like we need some education for the internist, and for the patient. Would you get the mammogram?

Pancreatic Cancer miRNA This week in JAMA

Earlier this month an article in JAMA studied the expression pattern of miRNAs (microRNA) in pancreatic cancer. What they found was pretty important.
From Medical News Today May 5th 2005

"Pancreatic cancer is a lethal disease, with the annual deaths nearly equaling the incidence of 33,000 in the United States, according to background information in the article. In humans, aberrant expression of miRNAs contributes to carcinogenesis by promoting the expression of proto-oncogenes (a normal gene that has the potential to become an oncogene) (a gene that can cause a cell to become malignant) or by inhibiting the expression of tumor suppressor genes"

From JAMA 2007 May 2;297(17):1901-8

CONCLUSIONS: Pancreatic cancer may have a distinct miRNA expression pattern that may differentiate it from normal pancreas and chronic pancreatitis. miRNA expression patterns may be able to distinguish between long- and short-term survivors, but these findings need to be validated in other study populations.

Expression of miR-196a-2 was found to predict poor survival (median, 14.3 months [95% confidence interval, 12.4-16.2] vs 26.5 months [95% confidence interval, 23.4-29.6]; P = .009).

What does this mean? It means we may very well be on the way to the predictive part of personalized medicine in pancreatic cancer. Obviously replication needs to be accomplished.

But the results were pretty convincing as far as statistic goes. By predicting survival time we can help the patients and their families with this horrible and most often fatal cancer. More importantly perhaps this signature pattern may allow us to develop molecular therapies to target the tumors associated with the worst outcomes.

The Gene Sherpa says: If you have family members with early breast cancer (younger than 50) you may be at risk for pancreatic cancer. You should speak with your doctor about having genetic counseling.

Breast cancer and genetic discrimination, relics of the past

Sorry so long since the last post.
2 MAJOR things came across my radar yesterday. Unfortunately I was giving a lecture on DNA Day to some medical students, so I could not post. Without further ado

Number 1 Congratulations to The United States House of Representatives, they finally passed GINA. If you don't know, this bill has been trying to be passed in some form or another for over 10 years. Some say that this is one of the major limitations to everyone getting their genes tested. Even the Harris Poll from 2002 documents this. So what does that mean for genetics.....Well, it is on to the Senate, where in 2005 a form of this legislation passed unanimously. Given the department of health and human services/Presidential push for Personalized Medicine it is likely to become a reality this year.

Number 2
Given the atmosphere in the US, there seems to be a similar push in the UK. This time it is for pre-implantation genetic diagnosis and breast cancer. Yes I agree a horrible disease and personally I feel that we must have early detection and prevention of breast cancer. In the UK there is application being presented to the Human Fertilisation and Embryology Authority to test for BRCA1 in embryos. What do you think? Is this technology going to come to the US?

Gene Sherpa says.....REI specialists very often do not have training in Medical Genetics per se. That makes me a little leery. Especially when they have yet to standardize the medium in which they grow the embryos. Why is this an issue? Because environment plays a key role in telling DNA what to do. At the same time, to prevent other cancers it is already being done in the US.

Minor Retraction

I would like to post a minor retraction. After spending time reviewing a certain Direct to Consumer genetic testing website, I found mention of:

1. That not all hemochromatosis is caused by HFE. It was one sentence in relation to several paragraphs on the page.
2. That you could test for iron studies, "Doctors usually perform screening tests before moving on to genetic testing or liver biopsy. " No, ALL doctors test iron levels prior to genetic testing or liver biopsy. It is the standard of care. You would get sued if you did not test iron studies first.
3. On their HFE questionnaire there is no place to state "no/yes my iron has been tested"

So... sorry for failing to mention that this info can be found approximately 5 clicks away from the testing info.

By the way, Myriad just released their 10Q for December Gross profits have tripled since 2004. Perhaps it is due to the "lab reps" they send into swanky offices in Greenwich and Park Avenue? Or maybe it is their gene patents, stifling innovation and research. Shame on you Dr Henderson

Quest patents Cholesterol Test!!!!

In a bid to take over the world, Quest laboratories has patented the LDL(bad cholesterol) test. Now you cannot screen LDL (bad) cholesterol without going through Quest. Cardiovascular disease affects at least 65 million Americans and now through the miracle of patents, Quest owns the rights to all cholesterol testing! The cost for such testing...an Astronomical 5400 USD!!!! But you can get your cholesterol checked free of charge if you participate in a research study co-sponsored by Pfizer. The bad news, they will not tell you your results for 2 years. In addition you will be required to take an experimental medication or placebo for those 2 years.

April Fools!!!!!

No! We are the fools, if we don't stop gene patents this may soon be what our health care becomes. More and more genes are being found linked to common diseases like heart attack. Even worse, more and more labs are patenting these tests!!!! Soon to have a full evaluation for risk you may spend 30,000 USD!!! The reason why these companies say it hardly is an issue is simply because the genes they have patented are for rare diseases. But the same rules apply for Pfizer, or Quest! Who is keeping them from patenting the Long QT gene (Too Late, that's already been done), or the genes for breast cancer risk (Too late, Myriad has already done that) but what about heart disease (deCode is busy doing this right now!!!)