Monday, April 30, 2007

Personalized Medicine in Hepatitis

From Stanford today a study results released showing the effectiveness of a genetic test indicating which patients infected with the Hepatitis C virus will progress to cirrhosis (destroyed shrunken liver). Until this study gastroenterologists had to guess which patients would develop this condition. None of the clinical factors including alcohol use or age at infection could accurately predict cirrhosis. This signature panel of 7 single nucleotide polymorphisms predicted risk better than clinical factors. Does that mean this test co developed by Celera Genomics is useful for all? Well....

  1. We need validation studies
  2. This was just evaluated on Caucasians
  3. We are getting closer
  4. Now if we could just get one of these for hepatocellular cancer

Hsien-Hsien Lei

Just a brief post today to tell you that there is an excellent blog being started by Hsien Lei PhD. She has been at the helm of a highly successful genetics blog called Genetics and Health. She is now posting on her new blog Eye on DNA
I am looking forward to this new start. We all wish her the best.
On a not so light note, I have been embroiled in a hot debate with Lisa Lee from a direct to consumer company. She has been extolling the benefits of predisposition testing for TCF7L2. When I posted this she had no response:
From Genetics and Health

"Last one I promise.The TCF7L2 is involved in signalling and may very well represent what we
call a developmental predisposition. The family of proteins it plays a role in is Wnt signalling. This is involved in the development of the gut. It is fishy to raise the possibility without mentioning that the damage could have already been done in utero. Similar predisposition may be involved with COPD (emphysema).

From NEJM Volume 355:306-308 July 20, 2006 Number 3“Does this new genetic information have any practical health implications? At first glance, TCF7L2 is not the most attractive of drug targets, since it is closely involved in fundamental developmental processes. The main effect of the high-risk single-nucleotide polymorphisms in relation to diabetes may be developmental and may not be amenable to therapeutic manipulation in the adult patient.”

Do you see how confusing the data is? I sure do.The jury’s still out.
At least in my mind.

Sunday, April 29, 2007

More Than DeCODE found!!

In one of the most comprehensive evaluations of diabetes risk genes "researchers from the University of Michigan, the National Human Genome Research Institute, the University of Southern California, the University of North Carolina, and Finland's National Health Institute, have identified at least four new genetic variants associated with increased risk of diabetes and confirmed existence of another six.

The findings will be posted today in the online edition of the journal
Science" This news was in Medical News Today. The findings include several genes which were not found by the DeCODE company. The Science papers confirmed six other genetic regions that others had previously identified as having a connection to type 2 diabetes.
Kári Stefánsson, the chief executive officer of deCODE, notes that a smaller sample size may help explain why his team didn't report two of the three new variants found by the three groups that pooled their data.
The story is not over for diabetes. I will maintain that any genetic testing being offered to the public right now is premature. We have replication studies. But what is really needed is analysis of a risk panel.

Dave Altshuler quoted in
Science Now and the Gene Sherpa agree :"The findings are just the beginning of what GWA studies will accomplish, notes David Altshuler, the director of the program in medical and population genetics at the Broad Institute in Cambridge, Massachusetts, who helped lead one of the teams reporting results today. The next step is to sequence these regions and confirm the relevant genes. Figuring out how they work "is going to take great creativity and insight," says Altshuler, as will determining how and when to apply the results to patients." So would I run out to take the Direct to Consumer TCF7L2 test?...NO. It likely will just confuse the situation.

Friday, April 27, 2007

Night Owls Unite!!!!

In an interesting "Non medically Related" study....for now
The Telegraph reports of a mutation causing circadian rhythm (activity vs. rest) problems. The gene called F-Box L3 which has been found to be responsible for degradation of proteins responsible for inhibiting or controlling our "internal clock". The effects of the proteins called Cry1 and Cry2 are essential for the oscillatory movement of our cycles. The studies were carried out at New York University and Europe and of course in conjunction with Merck. Heads up Ambien!!
What this study brings to the table is more important than the study itself. Media headline here is: "Gene explains why people are night owls"
No it doesn't! It explains why mice may have altered sleep wake cycles. As my old program director used to say "Mice are NOT humans"

The Gene Sherpa says: Be careful what you read in the press about genetics. Most of it is hype, much of it is not pertinent to humans....yet, and even worse some of it just ain't true. So leave the translation to me :)

Thursday, April 26, 2007

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.

Tuesday, April 24, 2007

Heart Risk Genes in Question

In the April 11th issue of JAMA Tom Morgan and Rick Lifton report a large "Replication" Study intended to identify at risk polymorphisms. I remember Tom running all over Yale collecting samples while I was a medical student rotating through genetics there. Personally I am surprised that the press did not jump all over this study. They evaluated 85 previously studied markers and found absolutely none were linked to increased risk of heart attack.
However family history of MI was higher in cases than controls, the racial subtype was Caucasian, the study identified each gene polymorphism individually. What this alerts me to is the shortcoming of candidate gene analysis (looking for genes based on mechanism of disease process). More importantly it puts an ALERT out that testing for MI predisposition is not ready for prime time quite yet, at least in a pan screening form. Perhaps nuanced testing in specific groups like ALOX5AP in Icelandic and Scottish patients will be the best way to stratify care.
The Gene Sherpa says- Hold on to testing for MI for now. Subgroup analysis will need to be done....again. Soon we will have whole genome analysis of risk genes and that will help solve this mystery. I hope Tom is doing well at Wash U St Louis. If anyone sees him tell him Steve Murphy says hi.

Monday, April 23, 2007

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

Neat content in San Jose

On rare occasion I will make mention of a great resource that a town or website has. The Tech Museum of Innovation located at 201 South Market Street San Jose, CA 95113 (408) 294-TECH has a great exhibit where you can explore the technology available to geneticists and counselors. In addition it raises the awareness about the Ethical, Legal And Social Implications of genetics and ourselves.

Sunday, April 22, 2007

Drug overcomes mutations

Today in the Times Online an article introduces a new type of medication. Called PTC124, this medication allows ribosomes to "pass-over" nonsense mutations, allowing for fully transcribed protein. The functional properties of PTC124 are similar to the aminoglycoside antibiotic gentamicin, but the two compounds are chemically distinct and PTC124 does not exhibit any antibiotic characteristics. In vitro experiments showed PTC124 to be superior to gentamicin at ribosomal read-through of nonsense mutations. Currently the drug has passed Phase II trials of Duchenne Muscular Dystrophy and of Cystic Fibrosis

If we look at disease burden in rare genetic diseases, nonsense mutations(mutations coding for a stop sequence in the middle transcription, resulting in a truncated protein/mRNA) make up a significant amount of afflicted patients. Here is a press release from the company. It does turn out that this company is privately held, but I am sure Genzyme or another company is looking for a new M&A target.

Here's what the Gene Sherpa says, PTC124 could hold tremendous promise however I will await phase III trial results. There are always unanticipated outcomes, possibly tumorigenesis(cancer creation). Trials are currently recruiting if you are interested.That being said, we may see the development of other molecules designed to overcome our genetic shortcomings.

Lastly I just want to be perfectly clear about what I had said in a previous email. It may alienate me from other blogs, or hired gun blogs for certain DTC testing companies. Just look for the Gene Sherpa link. If it's gone on your favorite blogs, then chances are we have a shill.
When Han Solo told Luke that travelling through Lightspeed isn't like dusting crops I am certain he was talking about genetic testing. In home testing has no place in this world, unless it is guided by a TRAINED professional. I hope too many people will not be harmed by this senseless promotion of testing without counseling. No offense to other doctorates, but I took an oath to help or at least do no harm. Primum Non Nocere Unfortunately, most of the professionals marketing these tests have not. The physicians employed by them perhaps have forgotten this oath.

More on colon cancer.

While preparing to give a lecture on colon cancer for my curriculum study I came across another piece of evidence that should give most patients pause. I hope my readers take this to heart and begin assembling their own family histories. This week in the Journal of General Internal Medicine there is an article surveying patients about their experiences and screening offered for colon cancer prevention. The first survey identified patients with a family history of colon cancer and the second survey evaluated the care they received by their internist. The care was given at a Harvard affiliate! Here's what they found:

  1. Only 39% of patients under 50 were asked about family history
  2. Only 45% of patients with a significant family history had been screened appropriately
  3. Only 46% of patients knew that family history of colon cancer can indicate a need for earlier cancer screening!

These averages might be good in baseball, but we are talking about human life here!

I am sure that with the database options in these new electronic medical records we will see more of our shortcomings. Especially when it comes to genetic care. That is if tracking family history is an option for an EMR. Most programs have woefully inadequate genetic options.

Here's what I will tell these young doctors: You better ask for family history, because the patient will not tell you they are at risk!

Here's what I will tell you: Please take your family's history and give it to the doctor, because they likely won't ask! More importantly, educate yourself about screening at the United States Preventative Services Task Force(USPSTF)

Thursday, April 19, 2007

Hormone Replacement and Your Heart

This past month in the journal Blood an article caught my eye. Primarily because I had just finished speaking with my mother in law about hormone replacement therapy (HRT). She asked me why estrogen causes heart disease. She had been told by her PMD years ago that it would protect her from a heart attack. The advice was prior to the WHI study. Confusing I agree but if you read my blog posted earlier about giving some risk stratification for HRT and heart disease, then you would know what I am going to tell you now......

Platelets (the bricks of a clot) have proteins which sit on their outside layer. The proteins allow platelets to become sticky(like mortar). Well, It turns out that certain genetic polymorphisms of these proteins can actually increase risk for heart disease when in the presence of hormone replacement therapy(estrogen/progestin)! I knew it was about to be published, I just couldn't spill the beans....Until now! The proteins called glycoprotein 1B alpha, and VI are involved in clot formation, and these polymorphisms actually increase the risk of heart disease either alone or together. More importantly the women who had "normal" genes when placed on HRT actually had a reduction in chest pain, heart attack, or angina! This is a tremendous example of the power of pharmacogenomics and personalized medicine! Imagine being able to give the right drug to the right woman at the right time! This is what I mean by clinical utility. There is no reason to do a genetic test unless you have some utility. Whether that utility is prevention, diagnosis, or guidance you must be able to act on the results of a genetic test. This is why everyone should have a Gene Sherpa!

Wednesday, April 18, 2007

Personalized Medicine is coming

I am back! What a fun week in San Diego. I was at a conference for Program Directors (Responsible for training resident physicians) in Internal Medicine. During my absence a few things have come up. But first I want to talk about the conference and how almost all program directors acknowledged that they do not teach genetics in their curriculum. Moreover, several expressed interest in our curriculum. I am so excited that these teachers are now realizing the power of genomic medicine.
That being said.....Appropriate use of the genome brings great results. Misuse and blatant promotion such as that done by a direct to consumer testing center in San Francisco (I will not say their name) will only lead to sullying of the geneticists' reputations.
On Genetics and Health there is a post which lead me to a website that was promoting risk factor testing for diabetes. Like any other path I will lead you through, there is good, bad, and unknown. First the good.
Diabetes is an awful disease and the longer it is untreated the worse the outcomes. So naturally I am excited about being able to diagnose it quicker. BUT this test does not diagnose, it only shows increased risk.
Here comes the bad.
In fact, the risk of carrying this gene polymorphism is not even half as much as having a sibling with Type 2 diabetes. Why would a company promote this test rather than promote taking a family history? The answer is simple, because they make MONEY off the test or interpretation and not off taking a family history and counseling in person. I have no respect for that. In fact, people will be amazed to know that this company makes all of its profit from marking up test costs or non face to face services, and serving as an "educational" resource. What education leaves out that the best screening test for hemochromatosis is iron studies? Shame on them.
Lastly, the unknown.
Now that I know this risk, how do I use it clinically. There is no study showing that metformin or a PPAR gamma here will prevent the onset of diabetes in this risk group. What I am saying is....before we go down this road 3 things need to be done

  1. A 3 generation family history
  2. Research on prevention in this high risk group
  3. Companies looking to make a quick buck off of you on testing without clinical utility need to be punished. Or at least I can lead you away from that confusing and dangerous path.

If you do wish to do in home testing without the help of a TRAINED genetic specialist who examines you and takes a full family history, then you risk the difficulty of test interpretation, appropriate follow up, and possibly improper care as a result. I hope you choose wisely.

Sunday, April 15, 2007

San Diego

I will be away for a few days. Just like Hsien Hsien I will be in California. Southern Cali for a conference. I will be presenting my findings on medical residents and their lack of genomic knowledge. Our group is a collaborative effort of Yale, Harvard, and Mount Sinai Schools of Medicine. What we found so far is scary, but not surprising. Especially after the story I told you yesterday. Residents with the most confidence in doing testing and family histories are the least knowledgeable about the subject with their average knowledge scores around 40-50%!!!!!
So beware residents asking family histories as well......Until I finish teaching them :)
See you on Wednesday!!!!

Friday, April 13, 2007

Beware doctors bearing genetic tests!!!!

Today I am back on the soap box.
But I will also give a little worthwhile and scary data as well.
Yesterday I was at a cocktail party for the physicians in my upscale new england/new york town. I was speaking with an "educated" gastroenterologist. In fact this physician has been in practice for 29 years, went to medical school at Cornell, and is now part of a large practice in suburban NY. He told me that some "lab reps" from Myriad were now going to offices of Gastroenterology, Hematology/Oncology, and Primary Care physicians extolling the benefits of genetic testing for cancer predisposition. This physician said that because of this they are now testing younger patients for Hereditary Non-polyposis Colon Cancer/Lynch Syndrome
He went on to talk about a 37 year old woman who had early polyps, was tested, and was positive for a mutation in a DNA repair gene called MLH1. I told him that was great. Then I asked him who he uses for genetic counseling. His eyes glazed over, seeming not to understand the question. Slowly as if to save himself he said "What does she need that for? She's not having any kids." OMG, I almost lost it. Slowly I said "If you fail to counsel a positive test result, you will get sued." Then his eyes lit up "I better go tell her to get counseling" he said.

  • Beware non-genetic doctors bearing genetic tests. 1 in 3 misinterpret tests for colon cancer.
  • GI doctors maybe more likely to elicit cancer history in the family, but are less likely to notify AT RISK family or even let the patient know family is at risk
  • In my education study that I will be presenting at the Association of Program Directors in Internal Medicine in San Diego I found some scary things as well.
  • Residents in academic and community programs consistently fail genetics knowledge exams
  • The confidence of an Internal Medicine resident physician in performing family histories is inversely proportional to their performance on knowledge exams!
  • Physicians in practice now are even worse than the training physicians today
  • But the scary thing is, the ones who have the confidence to DO genetics, actually have no knowledge in how to do it correctly.....That's why we need gene sherpas.

Thursday, April 12, 2007

Skip the ritalin, get a genotype!!

This week in the American Journal of Psychiatry there is a study which links a specific haplotype(a few changes in the same copy of a gene) to ADHD onset. It is a confirmatory study(which is needed to draw any conclusions). The gene in question is the dopamine transporter DAT1. There has always been a familial risk of ADHD with identical twins being 70-90% likely to have the disease if their twin is afflicted. So naturally we have thought that this disease is primarily genetic. However, until lately the data did not indicate a significant role in DAT1 changes. But this literature is not very strong. Now there is a significant study, but this too needs some further investigation. Do I go out and get my kid tested for DAT1 polymorphisms? No. Does it give us hope for early identification of ADHD and other therapies besides a stimulant that stunts growth? You bet it does. Are there other ways to get ADHD without this gene change? You bet there are. That being said......
If there is a test and it is useful I will be the first to let you know.
Would you take the test?

Wednesday, April 11, 2007

Genes predict metastases

Today in the Journal Nature it is reported that there is a panel of four genes that when expressed enable breast cancer cells to metastasize to the lungs. Those genes EREG, MMP1, MMP2 and Cox2 when shut off have dramatic effect. These results make us question the utility of pulling drug like Vioxx (a COX2 inhibitor) off the market. Perhaps we can find a way to give this drug to those who need it and will not have adverse drug reactions. I am betting Vioxx will see the light of day again.
What do you think?

Is nutrigenomics ready for prime time???

In May's edition of the American Journal of Human Genetics there is an article positing researching whether polymorphisms in MTHFR affect homocysteine/folate/one carbon metabolism. If so, does vitamin status play a role. B vitamins are essential for the remethylation and transsulfuration of homocysteine, which is an important intermediate in one-carbon metabolism.
What they found is that persons with a polymorphism in the MTHFR (I know what you are thinking....sounds like) namely the change at base 677 from a C to a T, had difficulties with this metabolism when low on B vitamins.
So is Nutrigenomics here? You know, the right vitamin for the right person at the right time...
Not so fast.

  1. Homocysteine is only poorly linked to heart disease in asymptomatic patients
  2. There is some literature which states that B vitamin supplementation in patients with prior heart attack can cause WORSE outcomes.
  3. This is a replicated study, but not on a heterogeneous population...........

All things considered I would do 3 things.

  1. Continue with my multivitamin
  2. Only supplement with B vitamins if I have NOT had a heart attack
  3. Go over the results of any Nutrigenomic test I took with a geneticist

Tuesday, April 10, 2007

Kidney Disease and your Child

This week in the official Journal of the American Academy of Pediatrics a study reveals that at least 2/3rds of nephrotic syndrome in the first year of life is caused by mutations in 4 genes. Those genes are NPHS1, NPHS2, WT1, LAMB2.
What does this mean for The Gene Sherpa? Well, incidentally it was found that these types of nephrotic syndrome are not responsive to steroids (No not the Barry Bonds type!). These medications are really strong types of anti-inflammatory. This is an example of personalized medicine! What would the non-savvy pediatrician do? Treat all nephrotic syndrome with steroids. Why? Because that is what she/he is taught. Unless you followed this literature you would be practicing trial and error medicine!

Monday, April 9, 2007

The Human Variome Project

Genes are like shoes, we each have a pair. Or in some instances (Homage to Imelda Marcos) several pair. As is the case with copy number variation(CNV). Let me explain, sometimes we have more than one pair of the same gene. It is a tough concept to get, primarily thanks to our "friend" The Monk. This is even more important than the idea of single nucleotide polymorphisms (SNPs). Simply put, with SNPs we differed approximately .1% millions of base pairs. Still there had to be more to the variation in humankind, and that's where CNVs come into play. This may lead to dosage effects of a certain protein or two. But how many copies does the average person have of each gene? Perhaps this will be discovered in the variome. The Wha?

The lead article in Nature Genetics this month describes the Human Variome Project. Much like the Human Genome Project, it will be a collaborative work. Much like the HGP, it will be another jumping off point for disease discovery and prevention. The project describes itself as " A global initiative that will catalogue all human gene variations – and will make that information freely available to researchers, clinicians and patients everywhere. "

I am excited about what this means. I have often been plagued by the dreaded Variant of Uncertain Significance. What that means in lay terms is "You're not quite normal, but you're not quite ill........Yet." It is one of the toughest things to counsel patients about and I hope the HVP will remedy that.

Thursday, April 5, 2007

Google your genes part deux?

Not since Google partnered with Craig Venter in 2005 to start using the power of the genome have we heard a peep about the secrets that lie ahead for the two, well and possibly Ryan Phelan. CEO of that company which makes money off of testing people rather than a medical(yes genetics is medicine people) model. Stark II laws made it illegal for doctors to make profits from testing people, so why whould pseudo-medicine outfits be able?
Anyways, where was I? Oh Google.....
In this weeks HealthcareITNews there is an article on Google pushing for better health information on the web. Perhaps to harness the power of the two? Google your genes and then learn about the diseases you are predisposed to....All 50 of them :) This whole thing will not fly without doctors? Doctors are trained to build this list of 50 diseases and then whittle it down to 2 or 3. That being said, genetics is a different story. According the recent ACMG statistics the mean age of most geneticists is 52. There are also less than 1000 MD geneticists in the country! 20% plan to retire in the next 5 years. To fill their shoes? Less than half of the 150 training spots are filed. Google is starting to look like they have a chance. Even worse, in medical school the Association of American Medical Colleges ranks genetics as the 3rd most important topic yet none have a prerequisite of genetics in undergrad for entry. Your internist or pediatrician or Ob knows less about genetics than Google. Who will deliver the future and personalized medicine???? Not them. Maybe Google. Maybe cutting edge genetics practices that have specialized training?
What do you think?

Wednesday, April 4, 2007

Menopause, Hormones, and You

In the Wall Street Journal today there is a review article regarding recent literature published on menopausal hormone replacement. This article summarizes the debate regarding hormone therapy but does not get to the meat of an article published in the Journal of the American Medical Association(JAMA). The article has some controversy swriling around it. Mainly, that the p-value (likelihood of chance association) was adjusted after the analysis in response to a JAMA request. This is not usually standard practice for publishers as the p-value is usually accepted at 0.05. In this case it is 0.01. Either way the findings are what is interesting.

Traditionally the thought was that menopause and estrogen deficiency was a disease state. As such the "old time" doctors thought that hormone replacement helped prevent stroke and heart attack risk. This was flipped on its head in 2002 when the
WHI released some findings which stated that you are actually at increased risk of heart attack or stroke while on the therapy!
new study points out that there is a window of new onset menopause where therapy does lower risk, however in the elderly >70 years old there is an increased risk. I think that this study has some merit. However, the results can only be interpreted through a genomic eye. Recently data were released regarding ESR1(estrogen receptor alpha) and increased risk of heart attack in men. Currently there are no definitive data on whether estrogen PLUS some gene polymorphism put you at increased or decreased risk. When that data comes, rest assured that labs will be lining up the postmenopausal women. And when that data comes, you will hear it here First!

Tuesday, April 3, 2007

Genes for Heart Attack Risk/Prostate Cancer Risk

This week in the American Journal of Human Genetics 2 articles about genetic risk for heart attack are published. The findings raise hope of future therapeutic targets and identification of risks. The first study implicates the KALRN gene and an intronic(noncoding) SNP. This polymorphism(change in a gene) was found in almost all Caucasians with early heart attack. What does this mean? Very little so far. The results need to be replicated... But more importantly this gene operates in a totally different system than cholesterol in creating atherosclerotic plaques! The second study is more limited in scope and is less important for pan-ethnicity and only applies to French Canadians.

The news is just as exciting for African Americans as new studies implicated and corroborate other findings that a gene polymorphism could be responsible for up to 2/3rds of prostate cancer in this ethnic group. This set of data may lead to early detection or even prevention. This is the goal of all Personalized Medicine specialists....including myself!

Monday, April 2, 2007

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 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!!!)

Sunday, April 1, 2007

Sudden Infant Death Gene

Recently in the medical journal of the American Heart Association "Circulation" several articles appeared regarding Sudden Infant Death Syndrome (SIDS). Namely that a significant percentage 9.5% of all cases of SIDS can be attributed to Long QT syndrome and other congenital arrythmias.
Now before you go and get your child genetically tested!!!! Something that a DTC testing company would try and have you do. I suggest a screening EKG
This is a simple and more appropriate test to evaluate arrythmias (funny heart beats). The American Academy of Pediatrics is hotly debating whether to include this, just like including the newborn screen and hearing screen.
Either way you slice it, I am asking my daughter's pediatrician for an ekg!
Wouldn't you?