Weekend of Firsts

Today at ScienceRoll Bertalan Mesko gives me my first Blogterview. This follows hosting my first Gene Genie Carnival

I am very excited to have joined the ranks of those who he has interviewed.


Personalized medicine is a passion for me. The true dream is to not have to call it personalized medicine or personalized genomics. The real name should be Medicine.


I put this cartoon here because it represents the "part-time" work I do for my blog, my training, and lastly my new medical practice. Let me tell you about what is so revolutionary at Helix Health of Connecticut (sorry, I am waiting to release the website).

1. We follow you for life (Something clinical geneticists rarely do). This is necessary given the rapid changes in genomic discovery. Your risks change as we learn more.


2. We are available for consultation anywhere you are (I can't share how). Just Call 1-914-954-6406. Soon we will have online booking :)


3. We put Geneticists together with Internists, OB/Gyns, Genomic Counselors and Pediatricians (when needed) to make care plans one patient at a time. We go over them with the patient to make sure they understand the plan. More importantly, we frequently "check-in"

All of these things require web 2.0, and I am a huge supporter of technology in medicine.

The Gene Sherpa Says: This blog post says it all. Personalized Medicine is US.

Gene Genie for 19 May 2007

In honor of my first Gene Genie

"It's a hundred times faster than the best serial supercomputer. It's a billion times more energy efficient. It's a trillion times denser than the best storage media. It's a teaspoonful of DNA that's a computer! And Leonard Adleman invented it."

Where is this supercomputer? Well, a group of Israeli scientists in 2004 published in Nature they had perfected the same thing where a DNA computer could detect cancer changes in cells and release a chemotherapy when positive.

Such is the same for our new "genomic revolution" Where will we be in 12 years?

This revolution is mentioned by The good folks at DNA Direct where they post twice on the subject The issue is clear, not enough trained specialist in genetics. But the question remains, is the 24th medical specialty really only restricted to metabolic diseases, developmental delay, and prenatal testing? I don't think so.......

Still we must never forget the roots of genetics. I am all too aware of the struggle people with metabolic diseases go through every day. We hear about this at Fight Pompe I am not surprised by the struggle to keep up with costs of this horrible disease.

Want to learn more about storage disease? Take a look at Sandwalk where we get 9 for the price of 1

Hsien Lei at Eye on DNA commented on the topic as well . She thinks we all can just get along. I say yes, patients and providers should get along. But patients and lab reps, just like pharmaceutical reps need to play nice too. Most of the time ;)

She also mentions the ugly side of testing at the Trinidadian Police Service where " lie detector tests would generate greater opposition than DNA testing" True, no lie :)

Future Pundit talks about the role of Preimplantation Genetic Diagnosis and its ever expanding uses. The specter of looks and intelligence for PGD rears its ugly head. Do I think this is a slippery slope, you bet. Especially when at the REI conference this April there were comments such as "We are the new geneticists" and "We determine mankind's fate" were heard by my Specialist friend. Yikes here comes Aldous........

Highlight Health reminds us that the beat moves on. The post quotes George Weinstock as saying 2007 is the year of Personalized Genomics. The full article can be found on the post. The Sherpa agrees. This year IS the year of the personal genome, from ARCHON to ILLUMINA we are moving there very quickly. I agree, that is why 2007 is the year I have launched the first personalized medicine clinic in the Greater New York City area.....soon to come out West.

Controlling our gene expression is important, and the sooner we figure out how to do it effectively we will start to see some "cures" for disease. Biosingularity points out a study working on the master PPAR, PPAR delta. We already have drugs for PPAR alpha and gamma. I used one just the other day to "cure" a woman's anti psychotic induced metabolic syndrome. Now that's effective use of your OWN DNA!

We too must remember we ARE what we eat. Our DNA is modified my our foods every day. The Agouti/Choline mouse study told us our food might also be affecting our offspring's' genes too. Scientific Blogging posts a study which is in concordance with that.

With all the debate surrounding the "utility" of web 2.0 pedias. Evolgen asks "Is scientific outreach good if facts are wrong" Something I question every day when I read the lay press regarding discovery.

These facts are often misunderstood and that's the problem. Even more likely, is what Rummy says. There are things "we know we know", things "we don't know we know", things we know we don't know" and lastly "things we don't know we don't know"

I can think of two big ones blown up over the last 2 years. The dual role of fibrillin in Marfan's disease, and Copy number variation. These two posts at Genomicron bring up that interesting content. The ideas are transmitted through road-kill.....uh I mean the opossum.

What's the solution to all this confusion? Well, at sites like Genetic Genealogists Ask the Geneticist we have some answers. More likely this type of site will bring up collaboration and communication.

That's why Rick Vidal has done a great thing by linking us together at the DNA Network

We will be able to debate, educate, and connect. That's what's amazing....

Let's flash back to 1995 and see what they say............

"By forcing the connection between computers and life, Adleman is making us rethink the meaning of both. Clearly, we have a lot of figuring left to do - but we also have new means for doing it."

Wired got it right. We do have a lot of figuring left to do and we do have a new means for doing it. Web 3.0, Medicine 2.0, and the people of the world.

Thanks for letting me host. The next Genie will be at Eye on Dna

Ex Myriad Backlash

OMG,

Today I was called a genetic elitist. See Beware Doctors

Let me state equivocally. I am not a genetics elitist, I am simple man from the US who has seen his share of genetics tragedies. I would like to give you an example here.

A 45 year old man in my ICU dies after a Whipple. Why? He had let his weight loss go for several months. He hadn't seen a doctor for 3 years. He knew it could be his cancer, because the doctor told him FAP was cured by colectomy. Even better, he just had a one year old daughter. When I told the primary care physician there was PGD available, he said PG what?

I am not an elitist. I am trying to teach ALL comers genetics and personalized medicine. This guy who posted is clearly a disgruntled "ex-myriad" employee. I am sorry to have hurt his feelings so bad that he needed to call me an elitist. But I put it out here to serve as a warning.

These companies are coming and they are looking for your dollar under the guise of "genetic populism" Don't be fooled. If they were reasonable, then they would want to educate and empower physicians. They would help me design tools other than hand out cards which often get thrown in the trash. The education they choose to portray is not the NORM. "Your patient could have a 100% chance of developing hereditary cancer". That is alarmist!

The Gene Sherpa Says: Mr Wisconsin I am sorry, but you portray/assume too many people as genomic savvy. That is DANGEROUS! We have to keep our defenses up. I am here to guide you, to show you the risks of following the pack, testing without context, and acting on fear. The public needs to be wary of inappropriate testing. Especially until proper genomic non-discrimination law is passed

Lastly, I am hosting Gene Genie tomorrow. Stop by in the afternoon and see what I have in store for you :)

Great Blog, Great Man

On occasion I like to make note of some person, event or thing that contributes to the future of health care and ultimately personalized medicine. One of these people is Bertalan Meskó.

He is a medical student at the University of Debrecen, Hungary (4th year of the 6). He has set up an amazing blog at Scienceroll whose aim is to make medicine, genetics more readable even for those who are not too interested in these.

If he were just to do that it would be a great thing. However, the soon to be Dr M is planning to help deliver the tools of Web 2.0 directly to physicians as he has to myself. He describes this synergy as Medicine 2.0. I currently am pointing all of my medical students and residents directly to his blog. I highly recommend it.

He has been interviewed several times and presents some great material.

I for one am extremely thankful to have a person willing to translate the technology of today allowing all of us to create the medicine of tomorrow.

Thanks Berci, I look forward to your exciting news.

This week in NEJM

This week Kathy Hudson Ph.D. opines on the difficulty of prohibiting genetic discrimination, detailing the hurdles that this legislation has had. If you have been asleep at the wheel, HR 493 passed the house 420-3.

This article also points out the huge loopholes in the Health Insurance Portability and Accountability Act, including its lack of addressing genetic information for underwriting purposes. Currently 35 states have some limited form of discrimination in employment, 47 with health insurance, leading to an inconsistent approach to prevention of discrimination. The states' legislation are swiss cheese like and difficult to apply. For example, some laws exclude genetic tests from "routine lab tests". Given that many genetic tests are "routine" these laws are now outdated and do not apply.

I would like to take a closer look at this proposed legislation now.

First what the legislation does:

1. Prohibits group and individual insurers for using genetic info in setting premium or contribution amounts



2. Prohibits insurers from requesting/requiring a patient undergo a genetic test



3. Prohibits employers from using genetic information to make employment decisions



4. Prohibits employers from requesting genetic information about an employee or their family

What it does not do:

1. Does Not prohibit medical underwriting based on CURRENT health status



2. Does Not mandate coverage for any genetic tests or treatments



3. Does Not interfere with a physicians ability to request a patient or their family members undergo genetic testing



4. Does Not create special remedies for employers other than those outlined in the Americans with Disabilities Act



5. Does Not prohibit workplace collection of genetic information for genetic monitoring programs such as wellness programs, state and federal medical leave programs, and in cases of inadvertant acquisition of this information, But Does prevent the employer from disclosing or using this information.

The Gene Sherpa says: The bill has passed one Senate subcommittee and now sits poised to become law by the fall. I for one am very excited about the possibilities this legislation brings.

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!

Save a Life!

In a recent publication in Lancet it was found that those who received chest compression only CPR actually had better outcomes if performed in the first 12 hour. It appears there is a "golden window" of 12 minutes which perfusion is much more important than oxygenation. This has turned the CPR world on its head. I am posting this here, not because there is some genetic twist. I post it to hopefully save a life or two. There have been several publications linking fear of catching a transmissible disease and decreased desire to perform CPR. Here's the good news: Compressions work just as well if not better initially.

The Gene Sherpa says: Scared of mouth to mouth? Just give compressions and call 911.