Non-Clinician Misinterpretation of DTC Genetic testing

Ok,

In case you haven't all figured it out. Blogs are dead. Mine is too, sorta. I have less and less time to blog as my practice explodes. But there are some things that just merit a blog post.

I am on twitter, you can follow me there @genesherpas

But now I am on the Sherpa. Yes, the blog that nearly got me on 60 Minutes and definitely won me the hearts of USA Today to be interviewed...BTW the practice got super busy after that......

Today I want to talk about something more serious.

The FDA hearings have laid the course clear. Direct To Consumer Genetic testing will be regulated.

Why?

1 part potential harm

2 parts irreverence for laws and medical regulation

3 parts flagrant misrepresentation of what genetic tests can do.......

See Kari S. Disavowal of his company's stupid tag line.......

Today on twitter Shirely Wu @shwu retweeted something that was the picked up by @dgmacarthur..... great geneticist, but not a medical geneticist........

That was:

A thoughtful and eloquent case-study petition to keep genetic testing DTC:http://bit.ly/dL3qar from @celticcurse#FDADTC

The problem?

I respect Shirley a lot, but this article is not thoughtful, nor is it eloquent.

Instead it is full of misinterpretation and IMHO an ignorance of the role of genetic testing in hereditary hemochromatosis.....

In no way is HFE genetic testing required or indicated to pick up a person with hereditary hemochromatosis.

USPSTF says the harms outweigh the risks of genetic testing for screening

There are multiple genes involved in hereditary hemochromatosis only testing HFE and thinking you are "off the hook" is stupid.....

There are also modifier genes likely too.....

In other words, perhaps the cheerleaders for DTCG are misinformed about the true utility of this type of testing. Further, if they knew the literature, perhaps they would be less angry that the FDA(who know the data BTW) want to regulate against these types of misinformed claims that could lead to misinterpretation by consumers and end up fleecing their pockets for fools gold.

Let's take this little gem from @celticcurse

"A simple genetic test is all it takes to know if hereditary hemochromatosis, the most common genetic killer in America, is in your genes."

Bull$h!t buddy.....less than 30% of HFE variant persons ever develop the disease. Do me a favor, partner with a doctor to hack your health next time please......

In case you wondered, iron studies are the key to screening. I get them in every northern european or any family history of liver disease, gonadal failure, arthritis, etc......

But, the lab heads wouldn't know that. Which is why lab heads shouldn't release discoveries into the wild......

The Sherpa Says: This retweet blog post by CelticCurse is an eloquent reason WHY DTC genetic testing should be regulated for claims and use......regulate the medical as a medical test, let the ancestry buffs do their thing sans FDA. End of story guys.....

Neglected Diagnoses: Putting you at risk!

I have decided to let the rest of the Forbes article analysis rest for today. Instead I wish to relay to you a story which deeply troubled me.

Today I saw a patient that was referred to me for the diagnosis of Osler Weber Rendu. Also Known As Hereditary Hemorrhagic Telangiectasia (HHT). What blew me away was not that it was picked up. Although alot of physicians may miss this if they fail to look in a mouth or carefully investigate nose bleeding in a patient. Trust me, these 2 things are very, very commonplace in medicine.

But what flabbergasted me was that this patient had all over his chart "May have Osler Weber Rendu"

So you may be asking yourself...Why does this matter? The answer is forthcoming. First a little bit about HHT. There are 3 types of this disease

• Type 1 is due to a mutation in the gene endoglin, there are significant problems including masses of maldeveloped blood vessels in the body. The worrisome ones are located in the brain and lungs. If these bleed, then you can have some really bad problems including death


• Type 2 is due to a mutation in the gene ACVRL1 and often have involvement of the liver. Unfortunately these patients need liver transplantation.


• Type 3 is not associated with a gene mutation........Yet

The outcome in most of these diseases if left untreated is death. Either by heart failure, liver failure, or bleed in your brain.

My point and why I am so frustrated is that you can detect these AVMs and treat them BEFORE you get the horrible outcomes!!!! How? MRI of the head, CT scan of the chest, Abdominal ultrasound, and Echocardiogram.

When I spoke with the referring physician and asked why none of these studies had been done. "The answer was I didn't know to do that, neither did my colleague. I thought these things only happened in childhood. Shouldn't it have been done there?" My response was......"well you should do it now and adults have genes too." This man has a daughter and grandaughter, he has familial implications that could have been addressed prior to the birth of his grandaughter.

The Sherpa Says: No you do not have HHT if you have a nosebleed.....But you might if you have funny things on your tongue and chronic nosebleeds. Please don't assume your doctor knows how to do the right thing. Be proactive, take charge of your healthcare. And if you need to email the Sherpa.

Hemochromatosis stories.

Lisa Lee posted about "House" last night. It made me laugh. I couldn't help but think how the media really portrays health care. It is down right scary. Most, like the media over-hype the non-dramatic and fail to catch the essence of medical culture. It is also scary how they miss the REAL issues. Did you know that in real life if you are "coded" you have less than a 15% chance of leaving the hospital? On TV it is over 75% And the way they portray disease......don't get me started :(

But what's even scarier is having to suffer through disease. I always like to check out the support blogs and this is one I feel strongly about. They express their difficulty with phlebotomy, the traditional treatment for Hemochromatosis.

Which brings me to my last comment. The American Gastroenterological Association recommends Iron Studies to evaluate for Hemochromatosis, not genetic studies. There are some shortcomings to this approach.....What if you are a pre-menopausal woman? Sure your iron will be lower than most with Hemochromatosis. But it will be elevated. The moral of the story, know your ethnicity, know the symptoms, and stay aware.

Lastly thank you to all that have visited The Sherpa's Shoppe. I am not looking to make any money, I just wanted a shirt that said "The Gene Sherpa" and didn't feel like buying 20.