HFE testing for stroke.

After reading Dr Lei's post regarding the article on a gene variant that codes for hemochromatosis (an iron overload syndrome) and stroke I decided to delve into the article.
Here are my take home points.

• This finding needs to be replicated and should not be used for screening, unless you are of the homogeneous (genetically speaking) Danes represented
• This 3 fold risk for stroke could be due to things other than iron. Therefore iron studies may not be the way to evaluate for this stroke risk
• Genetic testing for this could be confusing and I would NOT, repeat would not get Tested without talking to a geneticist or genetic counselor.

Thanks again to Dr Lei at Genetics and Health

This Week in New England Journal of Medicine

This week in NEJM Armanios et al post a study on telomere repair and Idiopathic Pulmonary Fibrosis. They found that <10% class="blsp-spelling-error" id="SPELLING_ERROR_7">telomere repair genes hTERT/hTR. This condition, as the name idiopathic (or as I like to call it IDIOT-Pathic) states has no known etiology, and no effective treatment. Even worse, by the time you are symptomatic it is nearly too late, as median survival is 3-5 years after diagnosis.

In January the specter of short telomeres was brought up implicated in heart attack. Perhaps telomere testing is the new marker. These studies require replication, but I am convinced that the system of telomere repair is involved in both disease processes.
Stay Tuned.

New Gene for Alzheimer's

A report in Nature Genetics implicates a gene SORL1 involved in the processing of amyloid (the substance that accumulates in the brain of Alzheimer's patients) for a significant amount of familial Alzheimer's. These results were replicated in a pan-ethnic group (this means that the result is applicable to a broad population). This elegant study still requires some follow up to determine exactly what percentage of AD is SORL1 related, and to identify the disease causing agents. But the writing on the wall is clear, if we can identify the carriers prior to disease expression, we will be able to prevent this type of Alzheimer's........hopefully soon.

The Promise of Pharmacogenomics

Sorry I have been offline for so long. I had some serious lecture commitments that had me swamped :(

But during my time off the Secretary's Advisory Committee on Genetics, Health and Society just published for "Public Comment" (that means you!) their report on how the promise of pharmacogenomics (adjusting medications according to your specific disease type and metabolism status) can be fulfilled! Please take the time to look at it and give them your opinion. They are in session right now if you want to watch the webcast

As for some more interesting news and to give props to the genomics and health bloggers. Dr Lei at Genetics and Health was given some PR time on Fox News. That's good news for all of us. If anyone needs some "expert" opinion feel free to email me @ thegenesherpa@gmail.com

Lastly, did you know that we have an epidemic of retiring geneticists? According to a report given at SACGHS, the average age of geneticist is 52, and over 20% plan to retire in the next 5 years. Couple that with the fact that there are only half of our training spots filled 72 of approx 140 and we are headed for the iceberg. Personally I am terrified. Given the fact that there are recommendations for psychiatry use of pharmacogenomic testing Yet none of the psychiatrists I know have training in genetics. How can we implement this technology with no one able to translate this clinically. For the PhD the tech is great, but for the MD the knowledge chasm is even greater. And DTC testing? Don't get me started.

The meeting for SACGHS will return at 1:45 pm EST

Should you see a geneticist?

Dr Lei at Genetics and Health has posted this great video from UCSD on when it might be good to see a geneticist/genetic counselor (I like Genomic Counselor better).

In addition I just received and email from a friend of mine (Info available upon request and his approval). He has sent me a good editorial and review of the concerns of PGD. It is entitled.
NATUREVol 4451 February 2007 "The First Cut" The risk is there but so is the benefit.

"Meanwhile, patients are left in a quandary
about whether the small, unproven risks are
worth taking. To avoid having a child with a
severe genetic disease, it is probably well worth
undergoing PGD; but for aneuploidy screening
the decision is less clear. At the very least,
experts say, practitioners should spell out the
risks and benefits of the procedure to would-be parents"

SACGHS?

Sorry for the short post but I wanted to get this out to you. The Secretary's Advisory Committee on Genetics, Health and Society has released the agenda for its March 26th and 27th meeting. What is the SACGHS? Well, it is a group of doctors, scientists, lawyers, ethicists, etc that have been asked to serve the Secretary of Health and Human Services. They advise HHS on genomic matters. In other words they help shape policy. As a matter of fact they played a big role in the GAO investigation into DNA Direct, and other direct to consumer testing sites. I'll bring the transcripts as soon as the meeting is over. Have a good weekend.

Preimplantation Diagnosis and Good Morning America!

Today on the 8:45 spot of Good Morning America they spent 5 minutes with Dr Tim Johnson (An Internist with no formal genetics training) discussing "designer babies"
The spot presented a family who was afflicted with colon cancer and how they had their "embryos" (fertilized eggs) tested for this genetic colon cancer. This testing also known as pre-implantation genetic diagnosis (PGD) has been available for a certain type of familial colon cancer since 2003. The technology brings up all sorts of ethical, legal and social issues regarding genetic technology. As a gene sherpa I must tell you that this technology is excellent, however their are some bumps, just like with IVF

• The rate of implantation with an IVF embryo is 20%, better than a single coitus
• The cost of the IVF is up to 30,000 USD/round
• The broth which is used to grow your little embryos is not standardized i.e. the broth can affect the genes.

A more interesting point is that the Internist who was discussing this, if like the others in his field misinterpret the test for familal adenomatoid polyposis (familial colon cancer) 1 in every 3 tests!!!!

Well....what would you do? What if the cancer was 100% guaranteed? What if it was only a 40% risk, but the cancer was fatal?

Day Zero

Ok,
So I have no idea where to begin. Which is why I will just start with the Stats.......

• Only 17% of patients with familial colon cancer risk were referred to appropriate genetic counseling according to a study at Harvard.
• Prenatal counseling is not offered 9 of 10 women who meet indications!
• Only 37% of MDs know that BRCA genes can be passed by the father!

We have a lot to cover and I look forward to sharing my solution to this huge problem. How in the world can we expect to implement Personalized Medicine in all its glory without having some Genome Savvy physicians? Oh....Those geneticists? Too bad almost 90 percent are pediatricians and have no clue what ischemic heart failure is.